|Institutional Source||Beutler Lab|
|Gene Name||zinc finger protein 952|
|Is this an essential gene?||Probably non essential (E-score: 0.108)|
|Stock #||0152 of strain feeble|
|Chromosomal Location||32993129-33005457 bp(+) (GRCm38)|
|Type of Mutation||splice site (135 bp from exon)|
|DNA Base Change (assembly)||T to A at 33003221 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000123066 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000087666] [ENSMUST00000157017]|
|Predicted Effect||possibly damaging
AA Change: C225S
PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: C225S
|Predicted Effect||noncoding transcript
|Predicted Effect||probably null
|Meta Mutation Damage Score||0.6190|
|Coding Region Coverage||
|Validation Efficiency||83% (65/78)|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Zfp952||
|Nature of Mutation|
DNA sequencing using the SOLiD technique identified a T to A transversion at position 772 of the C920016K16Rik transcript, in exon 4 of 4 total exons for the first isoform (Figure 1). In the second isoform, the mutation occurs in exon 5 of 7 total exons. Multiple isoforms of C920016K16Rik are found on Ensembl.
The mutated nucleotide is indicated in red lettering, and causes a cysteine to serine substitution at amino acid 225 in the 504 amino acid isoform and amino acid 226 in the 535 amino acid isoform of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 2).
|Protein Function and Prediction|
C920016K16Rik is an uncharacterized gene encoding a hypothetical protein product of 504 amino acids, which has general homology to zinc-finger binding proteins and contains nine predicted C2H2 zinc fingers in amino acids 251-497 (SMARTprogram). The predicted polypeptide also contains a KRAB domain (or Kruppel-associated box) at amino acids 10-73. The KRAB domain is present in about a third of zinc finger proteins containing C2H2 fingers, and is involved in protein-protein interactions. The KRAB domain is generally encoded by two exons with the regions coded by the two exons known as KRAB-A and KRAB-B. The A box plays an important role in repression by binding to corepressors, while the B box is thought to enhance repression by the A box (1). In the predicted protein encoded by C920016K16Rik, these regions are encoded by exons 2 and 3. KRAB-containing proteins are thought to have critical functions in cell proliferation and differentiation, apoptosis and neoplastic transformation (1).
C920016K16Rik is predicted to have another isoform produced by alternative splicing. This isoform is 535 amino acids long.
The C225S alteration does not occur in any known domains, but is predicted to be probably damaging by the PolyPhen program.