Incidental Mutation 'A9681:Gm9943'
ID 18
Institutional Source Beutler Lab
Gene Symbol Gm9943
Ensembl Gene
Gene Name predicted gene 9943
Synonyms AC164957.2
Accession Numbers
Essential gene? Not available question?
Stock # A9681 (G3) of strain atchoum
Quality Score
Status Validated
Chromosome 17
Chromosomal Location 16151701-16152339 bp(+) (NCBIm37)
Type of Mutation
DNA Base Change (assembly) T to A at 16235254 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s):
AlphaFold no structure available at present
Coding Region Coverage
  • 1x: 85.7%
  • 3x: 64.9%
Validation Efficiency 85% (88/103)
Allele List at MGI
Other mutations in this stock
Total: 5 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 A G 19: 57,161,755 (GRCm39) probably null Homo
Ints1 T C 5: 139,755,894 (GRCm39) E538G possibly damaging Homo
Or52n1 T C 7: 104,383,610 (GRCm39) probably benign Het
Pakap A G 4: 57,855,358 (GRCm39) Q270R probably damaging Het
Pld1 C A 3: 28,139,981 (GRCm39) H600Q probably benign Homo
Nature of Mutation
DNA sequencing using the SOLiD technique identified a T to A transversion at position 256 of the Gm9943 transcript (please see Ensembl). The mutated nucleotide creates a premature stop codon at amino acid 38 (normally a leucine) deleting 48 amino acids from the C-terminus of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction
Gm9943 is an uncharacterized gene that is predicted to encode an 85 amino acid protein.  Analysis using the SMART program predicts that the polypeptide sequence contains a signal peptide at amino acids 1-21. 
Note

also present in stock# ZE80

Posted On 2009-11-10