Incidental Mutation 'IGL02457:Cfap97'
ID 294463
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cfap97
Ensembl Gene ENSMUSG00000031631
Gene Name cilia and flagella associated protein 97
Synonyms 1110068E21Rik, 4933411K20Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # IGL02457
Quality Score
Status
Chromosome 8
Chromosomal Location 46615515-46648627 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 46623315 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 235 (C235F)
Ref Sequence ENSEMBL: ENSMUSP00000133211 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034048] [ENSMUST00000110376] [ENSMUST00000145229] [ENSMUST00000154040] [ENSMUST00000164504]
AlphaFold Q6ZPR1
Predicted Effect possibly damaging
Transcript: ENSMUST00000034048
AA Change: C235F

PolyPhen 2 Score 0.629 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000034048
Gene: ENSMUSG00000031631
AA Change: C235F

DomainStartEndE-ValueType
low complexity region 113 126 N/A INTRINSIC
low complexity region 176 201 N/A INTRINSIC
low complexity region 287 294 N/A INTRINSIC
Pfam:KIAA1430 352 457 4.4e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110376
AA Change: C235F

PolyPhen 2 Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000106005
Gene: ENSMUSG00000031631
AA Change: C235F

DomainStartEndE-ValueType
low complexity region 113 126 N/A INTRINSIC
low complexity region 176 201 N/A INTRINSIC
low complexity region 287 294 N/A INTRINSIC
Pfam:KIAA1430 353 456 1.4e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145080
Predicted Effect probably benign
Transcript: ENSMUST00000145229
AA Change: C235F

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000115734
Gene: ENSMUSG00000031631
AA Change: C235F

DomainStartEndE-ValueType
low complexity region 113 126 N/A INTRINSIC
low complexity region 176 201 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154040
SMART Domains Protein: ENSMUSP00000120522
Gene: ENSMUSG00000031631

DomainStartEndE-ValueType
low complexity region 113 126 N/A INTRINSIC
low complexity region 176 201 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000164504
AA Change: C235F

PolyPhen 2 Score 0.629 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000133211
Gene: ENSMUSG00000031631
AA Change: C235F

DomainStartEndE-ValueType
low complexity region 113 126 N/A INTRINSIC
low complexity region 176 201 N/A INTRINSIC
low complexity region 287 294 N/A INTRINSIC
Pfam:KIAA1430 352 457 4.4e-21 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16b A G 2: 181,136,127 (GRCm39) D343G probably benign Het
Acot10 T C 15: 20,666,229 (GRCm39) S171G possibly damaging Het
Actr3b T C 5: 26,054,160 (GRCm39) probably null Het
Adamts17 T C 7: 66,677,562 (GRCm39) M492T probably damaging Het
Akap4 A C X: 6,943,707 (GRCm39) N670T probably benign Het
Atrip A G 9: 108,894,299 (GRCm39) S55P possibly damaging Het
Bend3 A T 10: 43,385,946 (GRCm39) E113V probably damaging Het
Ccdc158 A C 5: 92,797,907 (GRCm39) I411S probably damaging Het
Chil4 T C 3: 106,121,715 (GRCm39) N45D probably benign Het
Cripto C T 9: 110,771,691 (GRCm39) C32Y probably damaging Het
D430041D05Rik A G 2: 104,079,690 (GRCm39) V1131A probably damaging Het
Defb38 T C 8: 19,076,552 (GRCm39) probably benign Het
Dnah10 T A 5: 124,866,860 (GRCm39) W2260R probably damaging Het
Ecsit A G 9: 21,989,500 (GRCm39) S14P probably damaging Het
Eif3l T C 15: 78,962,296 (GRCm39) F106L probably benign Het
Erich5 G T 15: 34,470,999 (GRCm39) G76V probably damaging Het
Evpl A G 11: 116,120,939 (GRCm39) L432P possibly damaging Het
Fbxw10 T C 11: 62,765,808 (GRCm39) F698L probably damaging Het
Frem2 A T 3: 53,428,470 (GRCm39) S2866T probably damaging Het
Fuca1 G A 4: 135,662,073 (GRCm39) V334I probably benign Het
Hprt1 T A X: 52,091,010 (GRCm39) H60Q probably benign Het
Kirrel2 T C 7: 30,152,165 (GRCm39) N481S probably damaging Het
Krt16 A T 11: 100,137,162 (GRCm39) probably benign Het
Lilrb4b T A 10: 51,357,334 (GRCm39) Y57N probably benign Het
Lix1l A G 3: 96,521,792 (GRCm39) Y126C probably damaging Het
Lox T C 18: 52,654,388 (GRCm39) D347G probably damaging Het
Mak16 C T 8: 31,654,753 (GRCm39) R147Q possibly damaging Het
Ndst2 G A 14: 20,779,622 (GRCm39) A206V possibly damaging Het
Or1ak2 A T 2: 36,827,760 (GRCm39) I210F probably damaging Het
Or2q1 T A 6: 42,795,176 (GRCm39) I257N probably damaging Het
Phldb1 T C 9: 44,627,771 (GRCm39) M225V probably benign Het
Pofut1 C T 2: 153,090,516 (GRCm39) Q137* probably null Het
Polr2a T C 11: 69,634,076 (GRCm39) probably benign Het
Prdm5 T A 6: 65,858,100 (GRCm39) L388Q probably damaging Het
Rad51c A G 11: 87,271,681 (GRCm39) S344P possibly damaging Het
Scart1 G A 7: 139,800,308 (GRCm39) G30S probably benign Het
Sdk1 C T 5: 141,938,771 (GRCm39) P398L probably damaging Het
Sec63 G A 10: 42,677,729 (GRCm39) probably benign Het
Sgo1 A T 17: 53,983,989 (GRCm39) L463Q probably damaging Het
Slc5a6 A G 5: 31,198,002 (GRCm39) L291P probably damaging Het
Smarcb1 T C 10: 75,757,205 (GRCm39) T9A probably benign Het
Sp3 A G 2: 72,801,813 (GRCm39) W67R probably damaging Het
Ssxb9 A C X: 21,041,234 (GRCm39) S23A probably benign Het
Syne1 A G 10: 5,292,167 (GRCm39) L1367S probably damaging Het
Tbc1d23 T A 16: 56,990,754 (GRCm39) I690F probably damaging Het
Tmed5 A T 5: 108,272,416 (GRCm39) S227R probably benign Het
Tnrc6c T A 11: 117,613,803 (GRCm39) S814T probably benign Het
Trbv2 C T 6: 41,024,905 (GRCm39) T107I probably benign Het
Trpm6 T C 19: 18,803,155 (GRCm39) V866A probably damaging Het
Trpm6 A T 19: 18,804,762 (GRCm39) K905* probably null Het
Ttn A G 2: 76,539,654 (GRCm39) V34444A probably benign Het
Vmn1r86 C T 7: 12,836,707 (GRCm39) M56I probably benign Het
Vmn2r17 A C 5: 109,601,012 (GRCm39) D770A probably damaging Het
Wnk4 T C 11: 101,160,389 (GRCm39) probably benign Het
Xaf1 T C 11: 72,194,257 (GRCm39) M46T possibly damaging Het
Other mutations in Cfap97
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00325:Cfap97 APN 8 46,623,222 (GRCm39) missense probably damaging 1.00
IGL01335:Cfap97 APN 8 46,623,492 (GRCm39) missense probably damaging 1.00
IGL02327:Cfap97 APN 8 46,623,179 (GRCm39) missense probably damaging 1.00
R4289:Cfap97 UTSW 8 46,645,698 (GRCm39) missense probably benign 0.03
R4777:Cfap97 UTSW 8 46,648,334 (GRCm39) nonsense probably null
R4844:Cfap97 UTSW 8 46,622,712 (GRCm39) missense possibly damaging 0.85
R5369:Cfap97 UTSW 8 46,622,687 (GRCm39) missense probably damaging 1.00
R5574:Cfap97 UTSW 8 46,623,179 (GRCm39) missense probably damaging 1.00
R5914:Cfap97 UTSW 8 46,634,895 (GRCm39) missense probably damaging 0.97
R6227:Cfap97 UTSW 8 46,644,769 (GRCm39) critical splice donor site probably null
R6790:Cfap97 UTSW 8 46,623,113 (GRCm39) missense possibly damaging 0.81
R7409:Cfap97 UTSW 8 46,645,733 (GRCm39) missense probably benign 0.13
R7964:Cfap97 UTSW 8 46,623,237 (GRCm39) missense possibly damaging 0.85
R8077:Cfap97 UTSW 8 46,623,482 (GRCm39) missense possibly damaging 0.86
R8960:Cfap97 UTSW 8 46,623,605 (GRCm39) missense probably damaging 1.00
R8968:Cfap97 UTSW 8 46,623,114 (GRCm39) missense possibly damaging 0.86
R9186:Cfap97 UTSW 8 46,644,665 (GRCm39) missense possibly damaging 0.91
Posted On 2015-04-16