Incidental Mutation 'IGL02327:Cfap97'
ID288536
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cfap97
Ensembl Gene ENSMUSG00000031631
Gene Namecilia and flagella associated protein 97
Synonyms4933411K20Rik, 1110068E21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.078) question?
Stock #IGL02327
Quality Score
Status
Chromosome8
Chromosomal Location46151771-46195590 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 46170142 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 190 (S190T)
Ref Sequence ENSEMBL: ENSMUSP00000106005 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034048] [ENSMUST00000110376] [ENSMUST00000145229] [ENSMUST00000154040] [ENSMUST00000164504]
Predicted Effect probably benign
Transcript: ENSMUST00000034048
AA Change: S190T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000034048
Gene: ENSMUSG00000031631
AA Change: S190T

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 damaging
Transcript: ENSMUST00000110376
AA Change: S190T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106005
Gene: ENSMUSG00000031631
AA Change: S190T

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 damaging
Transcript: ENSMUST00000145229
AA Change: S190T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000115734
Gene: ENSMUSG00000031631
AA Change: S190T

DomainStartEndE-ValueType
low complexity region 113 126 N/A INTRINSIC
low complexity region 176 201 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000154040
AA Change: S190T
SMART Domains Protein: ENSMUSP00000120522
Gene: ENSMUSG00000031631
AA Change: S190T

DomainStartEndE-ValueType
low complexity region 113 126 N/A INTRINSIC
low complexity region 176 201 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164504
AA Change: S190T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000133211
Gene: ENSMUSG00000031631
AA Change: S190T

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd9 A T 12: 110,977,415 C29S probably damaging Het
Ccdc66 G A 14: 27,493,386 A399V probably damaging Het
Ccl12 A G 11: 82,103,122 I68M possibly damaging Het
Cd244 T C 1: 171,559,341 V6A probably benign Het
Chic2 G T 5: 75,027,080 C106* probably null Het
Ctdsp2 G A 10: 126,996,382 D237N probably benign Het
Cyp2a22 A T 7: 26,934,781 M316K probably damaging Het
Cyp3a25 A G 5: 145,986,921 F304S possibly damaging Het
Ddc A T 11: 11,863,739 V209D probably damaging Het
Dhx16 A G 17: 35,883,825 K446R probably benign Het
Fgd3 T C 13: 49,285,798 K241E probably damaging Het
Hps1 G T 19: 42,756,345 probably benign Het
Inpp4b C T 8: 82,041,962 T700I probably benign Het
Kremen2 T A 17: 23,743,569 M157L probably benign Het
Lrwd1 T C 5: 136,123,464 Y582C probably damaging Het
Macf1 T A 4: 123,471,730 R1514S probably benign Het
Mex3c T A 18: 73,590,710 C625S probably damaging Het
Mical1 G A 10: 41,486,664 E932K possibly damaging Het
Ncf2 A T 1: 152,816,993 Y87F possibly damaging Het
Neo1 T C 9: 58,903,088 T1027A probably benign Het
Nfkbib G T 7: 28,759,143 P347Q probably benign Het
Nr1h2 G A 7: 44,551,500 probably benign Het
Olfr1158 A T 2: 87,990,257 I49F probably damaging Het
Olfr224 T A 11: 58,566,935 R137W probably damaging Het
Olfr384 A T 11: 73,603,155 T192S probably damaging Het
Oxct1 A G 15: 4,037,089 probably null Het
Pak1ip1 T G 13: 41,012,417 N308K probably benign Het
Prpf38a T C 4: 108,568,410 R224G unknown Het
Scfd1 T C 12: 51,389,317 V83A possibly damaging Het
Tmem131 C T 1: 36,799,022 G1545D probably damaging Het
Trav13n-4 A T 14: 53,364,110 probably benign Het
Ttc3 A G 16: 94,448,108 D1155G probably damaging Het
Unc80 G A 1: 66,641,673 V2143I probably benign Het
Vmn2r16 T C 5: 109,340,121 Y287H probably benign Het
Vmn2r59 A G 7: 42,012,231 V720A probably benign Het
Wars T A 12: 108,866,301 probably null Het
Wdcp A G 12: 4,851,115 K324E possibly damaging Het
Wdfy3 A T 5: 101,888,192 L2105H probably damaging Het
Xirp2 A T 2: 67,510,100 D895V probably damaging Het
Zscan10 A T 17: 23,607,572 probably benign Het
Other mutations in Cfap97
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00325:Cfap97 APN 8 46170185 missense probably damaging 1.00
IGL01335:Cfap97 APN 8 46170455 missense probably damaging 1.00
IGL02457:Cfap97 APN 8 46170278 missense possibly damaging 0.63
R4289:Cfap97 UTSW 8 46192661 missense probably benign 0.03
R4777:Cfap97 UTSW 8 46195297 nonsense probably null
R4844:Cfap97 UTSW 8 46169675 missense possibly damaging 0.85
R5369:Cfap97 UTSW 8 46169650 missense probably damaging 1.00
R5574:Cfap97 UTSW 8 46170142 missense probably damaging 1.00
R5914:Cfap97 UTSW 8 46181858 missense probably damaging 0.97
R6227:Cfap97 UTSW 8 46191732 critical splice donor site probably null
R6790:Cfap97 UTSW 8 46170076 missense possibly damaging 0.81
R7409:Cfap97 UTSW 8 46192696 missense probably benign 0.13
R7964:Cfap97 UTSW 8 46170200 missense possibly damaging 0.85
R8077:Cfap97 UTSW 8 46170445 missense possibly damaging 0.86
R8960:Cfap97 UTSW 8 46170568 missense probably damaging 1.00
Posted On2015-04-16