Incidental Mutation 'N/A:Cfap92'
ID 42
Institutional Source Beutler Lab
Gene Symbol Cfap92
Ensembl Gene ENSMUSG00000089997
Gene Name cilia and flagella associated protein 92
Synonyms 1810020O05Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.364) question?
Stock # N/A of strain 294
Quality Score
Status Validated
Chromosome 6
Chromosomal Location 87652572-87699783 bp(-) (GRCm39)
Type of Mutation exon
DNA Base Change (assembly) A to T at 87667773 bp (GRCm39)
Zygosity Homozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s):
AlphaFold A0A571BDQ7
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162547
Coding Region Coverage
  • 1x: 88.7%
  • 3x: 76.0%
Validation Efficiency 91% (106/116)
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016P04Rik T A 6: 13,415,772 (GRCm39) noncoding transcript Homo
Aif1 A G 17: 35,391,496 (GRCm39) L7S possibly damaging Homo
Ankrd26 T C 6: 118,506,535 (GRCm39) D646G probably benign Homo
Cacna1s A G 1: 136,001,247 (GRCm39) I233V probably benign Homo
Chchd4 T C 6: 91,442,187 (GRCm39) Y77C probably damaging Homo
Crocc G A 4: 140,749,057 (GRCm39) R1419C probably damaging Homo
Cyp4f39 A C 17: 32,687,655 (GRCm39) M74L probably benign Homo
Fgf9 C A 14: 58,327,421 (GRCm39) probably benign Homo
Gimap6 T C 6: 48,679,349 (GRCm39) D229G probably damaging Homo
Glp1r T C 17: 31,150,257 (GRCm39) F393S probably damaging Homo
Lrrc7 T G 3: 157,865,977 (GRCm39) I1255L probably benign Homo
Mtrr C A 13: 68,723,516 (GRCm39) probably benign Homo
Pde6b A T 5: 108,576,969 (GRCm39) probably benign Homo
Rbm19 A T 5: 120,282,162 (GRCm39) I840F probably damaging Homo
Serpina3c A C 12: 104,115,864 (GRCm39) S227A probably benign Homo
Spag17 G A 3: 99,889,570 (GRCm39) probably benign Homo
Spmip3 G A 1: 177,561,100 (GRCm39) R13H probably damaging Homo
Zbtb8b T C 4: 129,326,361 (GRCm39) D268G probably benign Homo
Other mutations in Cfap92
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0840:Cfap92 UTSW 6 87,657,260 (GRCm39) splice site noncoding transcript
Nature of Mutation
DNA sequencing using the SOLiD technique identified a T to A transversion at position 2427 of the 1810020O05Rik transcript. The mutated nucleotide causes an aspartic acid to glutamic acid substitution at amino acid 809 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
 
Protein Function and Prediction
1810020O05Rik is an uncharacterized gene that is predicted to encode an 1182 amino acid protein. No similarity to known domain families is identified in the predicted protein sequence by the SMART program. The D809E mutation is predicted to be benign by the PolyPhen program.
Posted On 2009-11-06