Incidental Mutation 'R4859:Cfap157'
ID 372293
Institutional Source Beutler Lab
Gene Symbol Cfap157
Ensembl Gene ENSMUSG00000038987
Gene Name cilia and flagella associated protein 157
Synonyms 1700019L03Rik
MMRRC Submission 042470-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R4859 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 32667425-32674417 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32667554 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 510 (F510L)
Ref Sequence ENSEMBL: ENSMUSP00000099877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066352] [ENSMUST00000066478] [ENSMUST00000091059] [ENSMUST00000102813] [ENSMUST00000125891] [ENSMUST00000161089] [ENSMUST00000161430] [ENSMUST00000161950] [ENSMUST00000161958]
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: F510L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000099877
Gene: ENSMUSG00000038987
AA Change: F510L

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: ENSMUST00000138214
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192262
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
Predicted Effect probably benign
Transcript: ENSMUST00000161958
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 89.5%
Validation Efficiency 100% (112/112)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 T A 8: 41,207,580 (GRCm39) V282E probably benign Het
Adam26b T C 8: 43,973,296 (GRCm39) T569A possibly damaging Het
Adam6a A G 12: 113,509,609 (GRCm39) N661D probably damaging Het
Adck1 G A 12: 88,407,865 (GRCm39) A199T probably benign Het
Adhfe1 A G 1: 9,628,438 (GRCm39) Y270C probably damaging Het
Aldh16a1 C T 7: 44,796,731 (GRCm39) R256H probably benign Het
Ap5z1 T C 5: 142,459,748 (GRCm39) M466T possibly damaging Het
Aspm C T 1: 139,397,131 (GRCm39) L908F probably damaging Het
Atp8b2 T A 3: 89,853,287 (GRCm39) T743S probably benign Het
Bag2 G T 1: 33,786,022 (GRCm39) T100K probably damaging Het
Camk2a A G 18: 61,076,246 (GRCm39) probably benign Het
Ccdc158 A G 5: 92,781,262 (GRCm39) Y848H probably damaging Het
Ccp110 T G 7: 118,324,653 (GRCm39) V725G possibly damaging Het
Cdh6 A G 15: 13,051,418 (GRCm39) V405A probably benign Het
Ces2g T C 8: 105,694,094 (GRCm39) probably null Het
Chd3 A T 11: 69,250,722 (GRCm39) M669K possibly damaging Het
Cnot10 C T 9: 114,456,532 (GRCm39) A168T probably damaging Het
Crybg1 A G 10: 43,868,565 (GRCm39) V1371A probably damaging Het
Dars2 A G 1: 160,872,560 (GRCm39) L547P probably damaging Het
Dis3 A G 14: 99,325,226 (GRCm39) C483R probably damaging Het
Dnah7b T A 1: 46,395,762 (GRCm39) L3888Q probably damaging Het
Dpysl2 A T 14: 67,066,888 (GRCm39) Y182N probably damaging Het
Eif4g1 T A 16: 20,500,923 (GRCm39) F509L probably benign Het
Evc T C 5: 37,458,253 (GRCm39) T85A probably damaging Het
Farsb T C 1: 78,444,609 (GRCm39) T283A probably benign Het
Fem1al G T 11: 29,775,178 (GRCm39) A93E probably damaging Het
Fgf14 C A 14: 124,429,845 (GRCm39) R30L possibly damaging Het
Gbe1 T C 16: 70,275,289 (GRCm39) L363P probably damaging Het
Gcg A G 2: 62,307,189 (GRCm39) V124A probably damaging Het
Glb1l A G 1: 75,176,963 (GRCm39) probably benign Het
Gm5431 T C 11: 48,780,409 (GRCm39) E449G probably damaging Het
Gon4l T C 3: 88,802,655 (GRCm39) S1089P probably benign Het
Hgd T C 16: 37,409,111 (GRCm39) L25P probably damaging Het
Hnf1a T C 5: 115,093,311 (GRCm39) H318R possibly damaging Het
Hsd17b7 A C 1: 169,794,826 (GRCm39) V71G possibly damaging Het
Hydin T C 8: 111,233,126 (GRCm39) S1742P possibly damaging Het
Insyn2b A G 11: 34,353,154 (GRCm39) S399G probably benign Het
Kank2 T C 9: 21,691,078 (GRCm39) E552G probably benign Het
Kcnq4 C A 4: 120,573,810 (GRCm39) R217L probably damaging Het
Klrg2 T C 6: 38,604,540 (GRCm39) *201W probably null Het
Kndc1 T C 7: 139,501,821 (GRCm39) S953P probably benign Het
Lama2 TTTGCGCATT TTT 10: 26,919,639 (GRCm39) probably null Het
Lonp1 A G 17: 56,933,587 (GRCm39) V96A probably benign Het
Mgat4e T C 1: 134,469,478 (GRCm39) K189E possibly damaging Het
Msantd5f8 A G 4: 73,805,457 (GRCm39) S351P probably damaging Het
Msh2 G A 17: 88,026,187 (GRCm39) V722I possibly damaging Het
Mtcl3 A C 10: 29,026,390 (GRCm39) M491L probably benign Het
N4bp2 T C 5: 65,982,641 (GRCm39) Y1632H probably damaging Het
Nlrc4 T G 17: 74,743,032 (GRCm39) K862T probably damaging Het
Notch4 A T 17: 34,806,154 (GRCm39) Q1750L probably damaging Het
Obscn C T 11: 58,972,849 (GRCm39) V2066I possibly damaging Het
Or2v2 T C 11: 49,003,993 (GRCm39) K187E probably damaging Het
Or4c15 T A 2: 88,760,627 (GRCm39) I11L probably benign Het
Or4f14b A T 2: 111,775,156 (GRCm39) I215N probably damaging Het
Or52d13 A T 7: 103,110,243 (GRCm39) Y57* probably null Het
Or5m8 T C 2: 85,823,075 (GRCm39) S305P probably damaging Het
Pde7a T A 3: 19,295,655 (GRCm39) probably benign Het
Pign A T 1: 105,575,892 (GRCm39) Y249* probably null Het
Ppp1r17 A T 6: 56,003,449 (GRCm39) E87D probably damaging Het
Prss3 T A 6: 41,350,857 (GRCm39) Q211L probably damaging Het
Rapgef6 A G 11: 54,526,989 (GRCm39) E413G probably benign Het
Rnf150 A G 8: 83,590,712 (GRCm39) H25R probably damaging Het
Scamp2 T C 9: 57,488,934 (GRCm39) probably null Het
Scap T A 9: 110,203,410 (GRCm39) probably benign Het
Sdc2 A C 15: 33,032,602 (GRCm39) K175N probably damaging Het
Serpinb6d T A 13: 33,851,547 (GRCm39) probably null Het
Sh3tc2 A G 18: 62,146,164 (GRCm39) N1181S probably benign Het
Slc44a2 T C 9: 21,259,441 (GRCm39) I46T probably damaging Het
Slfn8 A G 11: 82,908,540 (GRCm39) M1T probably null Het
Slitrk6 T C 14: 110,989,315 (GRCm39) T131A probably damaging Het
Spata1 C G 3: 146,175,529 (GRCm39) D326H probably damaging Het
Tbck T G 3: 132,507,288 (GRCm39) S753R probably benign Het
Tdp1 A G 12: 99,876,070 (GRCm39) I340M probably benign Het
Tmprss6 T A 15: 78,330,877 (GRCm39) Y50F probably damaging Het
Trank1 T A 9: 111,194,078 (GRCm39) S701T probably benign Het
Trbv17 A T 6: 41,140,223 (GRCm39) N26I probably benign Het
Trip12 A T 1: 84,771,531 (GRCm39) S248T probably damaging Het
Vmn2r53 T G 7: 12,335,330 (GRCm39) Q110P probably damaging Het
Vmn2r75 A G 7: 85,797,611 (GRCm39) V734A probably benign Het
Wfdc11 A T 2: 164,507,415 (GRCm39) M14K probably null Het
Xcr1 T A 9: 123,685,712 (GRCm39) M17L probably benign Het
Zbtb40 A G 4: 136,716,070 (GRCm39) I965T probably damaging Het
Zfp760 A T 17: 21,942,511 (GRCm39) H562L probably damaging Het
Zfp760 A T 17: 21,942,516 (GRCm39) R564* probably null Het
Znf41-ps T A 4: 145,555,283 (GRCm39) noncoding transcript Het
Zyg11a A T 4: 108,067,387 (GRCm39) I41N probably damaging 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
IGL02315:Cfap157 APN 2 32,668,177 (GRCm39) missense probably benign 0.02
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
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
Predicted Primers PCR Primer
(F):5'- CAGAACTGCAATGACACAGTGG -3'
(R):5'- ATAGTTGGGTAGCCTCAGGG -3'

Sequencing Primer
(F):5'- TGCAATGACACAGTGGTACCC -3'
(R):5'- CCTCAGGGATATGGTGGAATCTC -3'
Posted On 2016-03-01