pCDNA3-Flag-SPRTN-Y117C
(Plasmid #110216)

• Purpose: Expression in mammalian cells of of full-length SPRTN protein carrying Y117C mutation, a catalytically-impaired mutant, and Flag-tag at N-terminus.
• Depositing Labs: Ivana Marinovic-Terzic, Kristijan Ramadan
• Publication: Vaz et al Mol Cell. 2016 Nov 17;64(4):704-719. doi: 10.1016/j.molcel.2016.09.032. Epub 2016 Oct 27.

Backbone

• Vector backbone: pCDNA3.1
• Backbone manufacturer: Invitrogen
• Vector type: Mammalian Expression
• Selectable markers: Zeocin

Growth in Bacteria

• Bacterial Resistance(s): Ampicillin, 100 μg/mL
• Growth Temperature: 37°C
• Growth Strain(s): DH5alpha
• Copy number: High Copy

Gene/Insert

• Gene/Insert name: SPRTN
• Alt name: C1orf124
• Alt name: DVC1
• Species: H. sapiens (human)
• Insert Size (bp): 1494
• Mutation: Y117C, P296L (see depositor comments below)
• Entrez Gene: SPRTN (a.k.a. C1orf124, DVC1, PRO4323, spartan)
• Tag / Fusion Protein:
  • Flag (N terminal on insert)

Cloning Information

• Cloning method: Restriction Enzyme
• 5′ cloning site: BamHI (not destroyed)
• 3′ cloning site: unknown (unknown if destroyed)
• 5′ sequencing primer: unknown

Terms and Licenses

• Academic/Nonprofit Terms:
  • UBMTA
• Industry Terms:
  • Not Available to Industry

Depositor Comments

According to the large datasets deposited in various databses like: dbSNP, 1000 Genomes, the ExAC and the gnomAD browser, the variant c.887C>T, p.Pro296Leu is found roughly in 50% of general world population. Moreover, according to the large-scale sequencing studies involving more than 135 000 healthy individuals deposited in The Genome Aggregation Database (gnomAD), it is more prevalent than the previously assigned reference allele in the European population, with a minor allele frequency of 0.69: http://gnomad.broadinstitute.org/variant/1-231488524-C-T
Taken this into account, this variant (P296L) is s actually the accurate reference (wild-type) allele, and thus this variant can not be the cause of any Mendelian disease. This is the reason why all our vectors bear this variant.