Incidental Mutation 'IGL02442:Cfap97d1'
ID 293478
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cfap97d1
Ensembl Gene ENSMUSG00000010841
Gene Name CFAP97 domain containing 1
Synonyms 1700006E09Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02442
Quality Score
Status
Chromosome 11
Chromosomal Location 101877882-101883090 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101881652 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 116 (V116A)
Ref Sequence ENSEMBL: ENSMUSP00000010985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010985] [ENSMUST00000107172] [ENSMUST00000107173] [ENSMUST00000175972] [ENSMUST00000176722]
AlphaFold Q9DAN9
Predicted Effect probably benign
Transcript: ENSMUST00000010985
AA Change: V116A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000010985
Gene: ENSMUSG00000010841
AA Change: V116A

DomainStartEndE-ValueType
Pfam:KIAA1430 35 130 1.1e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107172
SMART Domains Protein: ENSMUSP00000102790
Gene: ENSMUSG00000003518

DomainStartEndE-ValueType
DSPc 29 176 8.04e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107173
SMART Domains Protein: ENSMUSP00000102791
Gene: ENSMUSG00000003518

DomainStartEndE-ValueType
DSPc 54 201 8.04e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000175972
Predicted Effect probably benign
Transcript: ENSMUST00000176722
AA Change: V65A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000134890
Gene: ENSMUSG00000010841
AA Change: V65A

DomainStartEndE-ValueType
Pfam:KIAA1430 1 80 4.8e-22 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adap2 A G 11: 80,068,032 (GRCm39) E348G probably damaging Het
Ahnak G A 19: 8,981,380 (GRCm39) G888D probably damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Csde1 T C 3: 102,962,135 (GRCm39) C649R probably benign Het
Cym A C 3: 107,121,601 (GRCm39) D230E probably damaging Het
Dnah1 A T 14: 31,009,835 (GRCm39) I1911N probably damaging Het
Fat1 A G 8: 45,403,360 (GRCm39) H37R probably benign Het
Ggt6 T C 11: 72,327,632 (GRCm39) V146A possibly damaging Het
Glud1 T A 14: 34,057,395 (GRCm39) L54* probably null Het
Grk6 A G 13: 55,606,750 (GRCm39) probably benign Het
Gsta4 G A 9: 78,116,447 (GRCm39) V219I probably benign Het
Gucy1a2 G A 9: 3,865,385 (GRCm39) V620M probably damaging Het
Hspe1 T C 1: 55,128,201 (GRCm39) probably benign Het
Icmt T C 4: 152,383,173 (GRCm39) V76A possibly damaging Het
Ifrd1 A G 12: 40,266,316 (GRCm39) probably benign Het
Lgals12 T C 19: 7,584,019 (GRCm39) probably benign Het
Lypla1 T C 1: 4,902,610 (GRCm39) probably benign Het
Map1b A T 13: 99,644,706 (GRCm39) W66R probably damaging Het
Matn3 T A 12: 9,017,678 (GRCm39) C443* probably null Het
Mup8 T A 4: 60,219,695 (GRCm39) R191W probably damaging Het
Mycbp2 T C 14: 103,551,811 (GRCm39) K140R probably benign Het
Ndfip1 C T 18: 38,580,789 (GRCm39) S66L probably damaging Het
Neu1 A G 17: 35,153,445 (GRCm39) I323V probably benign Het
Nup205 A T 6: 35,167,003 (GRCm39) T341S probably benign Het
Or4f7 G A 2: 111,644,336 (GRCm39) T245I probably benign Het
Or5b112 T A 19: 13,319,484 (GRCm39) C121S probably benign Het
Or5b3 T A 19: 13,388,351 (GRCm39) N139K probably benign Het
Ovch2 T A 7: 107,395,755 (GRCm39) I88F possibly damaging Het
Pkd1 T A 17: 24,784,200 (GRCm39) S249T probably benign Het
Plekhg3 A T 12: 76,625,127 (GRCm39) Q1324L probably benign Het
Ppara T A 15: 85,685,344 (GRCm39) V431E probably benign Het
Prkaa1 T G 15: 5,206,369 (GRCm39) H408Q probably damaging Het
Sap25 T A 5: 137,640,257 (GRCm39) N108K probably benign Het
Setd5 A C 6: 113,087,341 (GRCm39) I81L possibly damaging Het
Sinhcaf A T 6: 148,830,005 (GRCm39) probably null Het
Sri T A 5: 8,112,411 (GRCm39) M78K probably damaging Het
Tyro3 A G 2: 119,639,349 (GRCm39) N352S probably benign Het
Ubr5 T A 15: 38,038,145 (GRCm39) E332V possibly damaging Het
Vmn2r19 G T 6: 123,286,621 (GRCm39) V85F possibly damaging Het
Vmn2r53 A T 7: 12,315,656 (GRCm39) V721D probably damaging Het
Vwa5a A G 9: 38,646,080 (GRCm39) M483V probably benign Het
Zfp786 T A 6: 47,798,301 (GRCm39) Q212H probably benign Het
Other mutations in Cfap97d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Cfap97d1 APN 11 101,881,646 (GRCm39) missense possibly damaging 0.75
R1802:Cfap97d1 UTSW 11 101,879,302 (GRCm39) missense possibly damaging 0.56
R1937:Cfap97d1 UTSW 11 101,877,989 (GRCm39) missense probably damaging 0.97
R2015:Cfap97d1 UTSW 11 101,878,044 (GRCm39) missense probably damaging 1.00
R3732:Cfap97d1 UTSW 11 101,879,278 (GRCm39) nonsense probably null
R3732:Cfap97d1 UTSW 11 101,879,278 (GRCm39) nonsense probably null
R3733:Cfap97d1 UTSW 11 101,879,278 (GRCm39) nonsense probably null
R3813:Cfap97d1 UTSW 11 101,882,314 (GRCm39) missense probably benign 0.01
R5804:Cfap97d1 UTSW 11 101,881,640 (GRCm39) missense probably damaging 1.00
R7351:Cfap97d1 UTSW 11 101,882,331 (GRCm39) missense probably benign 0.01
R7451:Cfap97d1 UTSW 11 101,882,283 (GRCm39) missense possibly damaging 0.85
R8546:Cfap97d1 UTSW 11 101,881,687 (GRCm39) missense probably damaging 1.00
R9391:Cfap97d1 UTSW 11 101,881,655 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16