Incidental Mutation 'IGL02315:Cfap157'
ID 287992
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cfap157
Ensembl Gene ENSMUSG00000038987
Gene Name cilia and flagella associated protein 157
Synonyms 1700019L03Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # IGL02315
Quality Score
Status
Chromosome 2
Chromosomal Location 32667425-32674417 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32668177 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 421 (D421V)
Ref Sequence ENSEMBL: ENSMUSP00000099877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066352] [ENSMUST00000066478] [ENSMUST00000091059] [ENSMUST00000102813] [ENSMUST00000125891] [ENSMUST00000161958] [ENSMUST00000161089] [ENSMUST00000161430] [ENSMUST00000161950]
AlphaFold Q0VFX2
Predicted Effect probably benign
Transcript: ENSMUST00000066352
SMART Domains Protein: ENSMUSP00000068850
Gene: ENSMUSG00000053746

DomainStartEndE-ValueType
Pfam:Pept_tRNA_hydro 22 200 6.3e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000066478
SMART Domains Protein: ENSMUSP00000068977
Gene: ENSMUSG00000039021

DomainStartEndE-ValueType
TPR 18 51 2.26e-3 SMART
TPR 52 85 4.09e-1 SMART
TPR 93 126 8.3e-2 SMART
TPR 161 194 4.44e1 SMART
TPR 208 241 3.69e1 SMART
TPR 242 275 1.08e1 SMART
Blast:TPR 288 321 2e-10 BLAST
TPR 322 355 1.02e-1 SMART
TPR 363 396 7.27e0 SMART
Blast:TPR 397 430 2e-12 BLAST
low complexity region 539 554 N/A INTRINSIC
low complexity region 565 577 N/A INTRINSIC
low complexity region 629 640 N/A INTRINSIC
low complexity region 725 750 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000091059
SMART Domains Protein: ENSMUSP00000088585
Gene: ENSMUSG00000039021

DomainStartEndE-ValueType
TPR 75 108 2.26e-3 SMART
TPR 109 142 4.09e-1 SMART
TPR 150 183 8.3e-2 SMART
TPR 218 251 4.44e1 SMART
TPR 265 298 3.69e1 SMART
TPR 299 332 1.08e1 SMART
Blast:TPR 345 378 2e-10 BLAST
TPR 379 412 1.02e-1 SMART
TPR 420 453 7.27e0 SMART
Blast:TPR 454 487 2e-12 BLAST
low complexity region 631 644 N/A INTRINSIC
low complexity region 666 679 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102813
AA Change: D421V

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000099877
Gene: ENSMUSG00000038987
AA Change: D421V

DomainStartEndE-ValueType
coiled coil region 32 191 N/A INTRINSIC
coiled coil region 301 371 N/A INTRINSIC
low complexity region 402 416 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123674
Predicted Effect probably benign
Transcript: ENSMUST00000125891
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150918
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192262
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138214
Predicted Effect probably benign
Transcript: ENSMUST00000161958
Predicted Effect probably benign
Transcript: ENSMUST00000161089
SMART Domains Protein: ENSMUSP00000124915
Gene: ENSMUSG00000039021

DomainStartEndE-ValueType
TPR 18 51 2.26e-3 SMART
TPR 52 85 4.09e-1 SMART
TPR 93 126 8.3e-2 SMART
TPR 161 194 4.44e1 SMART
TPR 208 241 3.69e1 SMART
TPR 242 275 1.08e1 SMART
Blast:TPR 288 321 2e-10 BLAST
TPR 322 355 1.02e-1 SMART
TPR 363 396 7.27e0 SMART
Blast:TPR 397 430 2e-12 BLAST
low complexity region 539 554 N/A INTRINSIC
low complexity region 565 577 N/A INTRINSIC
low complexity region 629 640 N/A INTRINSIC
low complexity region 725 750 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161430
SMART Domains Protein: ENSMUSP00000124031
Gene: ENSMUSG00000039021

DomainStartEndE-ValueType
TPR 75 108 2.26e-3 SMART
TPR 109 142 4.09e-1 SMART
TPR 150 183 8.3e-2 SMART
TPR 218 251 4.44e1 SMART
TPR 265 298 3.69e1 SMART
TPR 299 332 1.08e1 SMART
Blast:TPR 345 378 2e-10 BLAST
TPR 379 412 1.02e-1 SMART
TPR 420 453 7.27e0 SMART
Blast:TPR 454 487 2e-12 BLAST
low complexity region 596 611 N/A INTRINSIC
low complexity region 622 634 N/A INTRINSIC
low complexity region 686 697 N/A INTRINSIC
low complexity region 782 807 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161950
SMART Domains Protein: ENSMUSP00000123927
Gene: ENSMUSG00000039021

DomainStartEndE-ValueType
TPR 18 51 2.26e-3 SMART
TPR 52 85 4.09e-1 SMART
TPR 93 126 8.3e-2 SMART
TPR 161 194 4.44e1 SMART
TPR 208 241 3.69e1 SMART
TPR 242 275 1.08e1 SMART
Blast:TPR 288 321 2e-10 BLAST
TPR 322 355 1.02e-1 SMART
TPR 363 396 7.27e0 SMART
Blast:TPR 397 430 2e-12 BLAST
low complexity region 539 554 N/A INTRINSIC
low complexity region 565 577 N/A INTRINSIC
low complexity region 629 640 N/A INTRINSIC
low complexity region 725 750 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous knockout males are infertile owing to reduced sperm count and reduced and abnormal sperm motility as a result of abnormal sperm morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik T A 2: 35,266,185 (GRCm39) I162F probably damaging Het
Akap8 T C 17: 32,524,475 (GRCm39) D607G probably benign Het
Ap2b1 G A 11: 83,227,625 (GRCm39) V327I probably damaging Het
Bmpr1b A G 3: 141,563,290 (GRCm39) V218A probably damaging Het
Ctsm A G 13: 61,687,462 (GRCm39) V100A probably benign Het
Cwf19l2 C T 9: 3,410,030 (GRCm39) T53I probably damaging Het
Dst T C 1: 34,237,746 (GRCm39) C3663R probably damaging Het
Fbxo10 T A 4: 45,062,469 (GRCm39) H19L probably benign Het
Ghitm A T 14: 36,853,521 (GRCm39) N106K probably benign Het
Hivep2 T C 10: 14,006,983 (GRCm39) F1194L probably benign Het
Hpse2 A G 19: 42,955,386 (GRCm39) probably benign Het
Ighv1-67 C T 12: 115,567,687 (GRCm39) G56D probably benign Het
Ikzf4 A G 10: 128,470,014 (GRCm39) F502S probably damaging Het
Lrrc24 A T 15: 76,602,506 (GRCm39) F126L probably damaging Het
Mapt G A 11: 104,218,904 (GRCm39) R355Q probably damaging Het
Mug1 T A 6: 121,817,126 (GRCm39) V65E probably benign Het
Myh6 T C 14: 55,191,291 (GRCm39) E850G probably damaging Het
Myh9 C A 15: 77,654,173 (GRCm39) V1211L probably benign Het
Naip2 T A 13: 100,297,744 (GRCm39) D764V probably damaging Het
Or8d2b G A 9: 38,789,353 (GRCm39) V294I probably damaging Het
Parp6 A G 9: 59,549,021 (GRCm39) probably benign Het
Ppp4r4 C T 12: 103,566,620 (GRCm39) probably benign Het
Pramel11 T C 4: 143,624,498 (GRCm39) probably benign Het
Pxylp1 A G 9: 96,721,196 (GRCm39) L56P probably damaging Het
Rita1 C T 5: 120,747,858 (GRCm39) A147T probably damaging Het
Skida1 T C 2: 18,050,816 (GRCm39) probably benign Het
Slc35d2 A G 13: 64,254,849 (GRCm39) S210P possibly damaging Het
Slit2 C T 5: 48,145,213 (GRCm39) T71M probably damaging Het
Spem2 A T 11: 69,708,191 (GRCm39) L258Q probably damaging Het
Stxbp2 C T 8: 3,685,607 (GRCm39) probably benign Het
Vit G A 17: 78,930,087 (GRCm39) V351I possibly damaging Het
Zwilch A G 9: 64,057,549 (GRCm39) S285P probably damaging Het
Zzef1 A T 11: 72,766,083 (GRCm39) R1537* probably null Het
Other mutations in Cfap157
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00338:Cfap157 APN 2 32,671,395 (GRCm39) missense probably damaging 1.00
IGL00852:Cfap157 APN 2 32,669,827 (GRCm39) missense possibly damaging 0.89
IGL01284:Cfap157 APN 2 32,671,491 (GRCm39) missense possibly damaging 0.69
PIT4810001:Cfap157 UTSW 2 32,671,444 (GRCm39) missense probably damaging 0.96
R0654:Cfap157 UTSW 2 32,669,954 (GRCm39) missense probably damaging 1.00
R0699:Cfap157 UTSW 2 32,669,022 (GRCm39) missense probably damaging 1.00
R1103:Cfap157 UTSW 2 32,671,410 (GRCm39) missense probably damaging 1.00
R1123:Cfap157 UTSW 2 32,667,935 (GRCm39) missense possibly damaging 0.93
R2165:Cfap157 UTSW 2 32,668,175 (GRCm39) splice site probably null
R4304:Cfap157 UTSW 2 32,669,054 (GRCm39) missense probably damaging 1.00
R4307:Cfap157 UTSW 2 32,669,054 (GRCm39) missense probably damaging 1.00
R4308:Cfap157 UTSW 2 32,669,054 (GRCm39) missense probably damaging 1.00
R4439:Cfap157 UTSW 2 32,667,877 (GRCm39) missense probably benign 0.00
R4859:Cfap157 UTSW 2 32,667,554 (GRCm39) missense probably benign 0.00
R4880:Cfap157 UTSW 2 32,668,261 (GRCm39) missense probably damaging 1.00
R4917:Cfap157 UTSW 2 32,669,965 (GRCm39) missense probably benign 0.19
R5808:Cfap157 UTSW 2 32,670,657 (GRCm39) missense probably damaging 1.00
R6052:Cfap157 UTSW 2 32,669,863 (GRCm39) missense probably damaging 1.00
R6405:Cfap157 UTSW 2 32,671,408 (GRCm39) missense probably damaging 1.00
R6502:Cfap157 UTSW 2 32,670,690 (GRCm39) missense probably damaging 1.00
R6647:Cfap157 UTSW 2 32,669,086 (GRCm39) missense probably benign
R6959:Cfap157 UTSW 2 32,674,260 (GRCm39) missense probably damaging 1.00
R7123:Cfap157 UTSW 2 32,669,413 (GRCm39) missense probably damaging 0.99
R7469:Cfap157 UTSW 2 32,670,696 (GRCm39) missense probably damaging 1.00
R7527:Cfap157 UTSW 2 32,669,890 (GRCm39) missense possibly damaging 0.86
R7573:Cfap157 UTSW 2 32,667,520 (GRCm39) missense probably benign 0.00
R7697:Cfap157 UTSW 2 32,669,765 (GRCm39) missense probably benign 0.01
R7911:Cfap157 UTSW 2 32,668,219 (GRCm39) missense probably damaging 1.00
R8338:Cfap157 UTSW 2 32,668,018 (GRCm39) missense possibly damaging 0.54
R8493:Cfap157 UTSW 2 32,669,752 (GRCm39) missense probably benign 0.06
R9597:Cfap157 UTSW 2 32,669,753 (GRCm39) missense probably benign 0.00
X0020:Cfap157 UTSW 2 32,669,867 (GRCm39) missense probably benign 0.35
Z1177:Cfap157 UTSW 2 32,668,219 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16