Incidental Mutation 'R1123:Cfap157'
ID 95818
Institutional Source Beutler Lab
Gene Symbol Cfap157
Ensembl Gene ENSMUSG00000038987
Gene Name cilia and flagella associated protein 157
Synonyms 1700019L03Rik
MMRRC Submission 039196-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R1123 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 32667425-32674417 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 32667935 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 469 (V469M)
Ref Sequence ENSEMBL: ENSMUSP00000099877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066352] [ENSMUST00000066478] [ENSMUST00000091059] [ENSMUST00000102813] [ENSMUST00000125891] [ENSMUST00000161950] [ENSMUST00000161430] [ENSMUST00000161958] [ENSMUST00000161089]
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 possibly damaging
Transcript: ENSMUST00000102813
AA Change: V469M

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099877
Gene: ENSMUSG00000038987
AA Change: V469M

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: 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: 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: 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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.7%
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T A 11: 84,154,906 (GRCm39) M987K probably benign Het
Akap3 A G 6: 126,842,929 (GRCm39) D516G probably benign Het
Arhgap12 A C 18: 6,031,822 (GRCm39) V573G probably damaging Het
Ccdc122 T C 14: 77,305,351 (GRCm39) S2P probably damaging Het
Cel T C 2: 28,446,752 (GRCm39) Y473C probably damaging Het
Cyp2c40 C G 19: 39,801,121 (GRCm39) V45L probably benign Het
Dtx3l C T 16: 35,753,638 (GRCm39) A323T probably damaging Het
Erap1 A G 13: 74,821,762 (GRCm39) T706A probably benign Het
Esyt1 A T 10: 128,352,427 (GRCm39) V728E probably benign Het
Etnk2 A G 1: 133,301,010 (GRCm39) D259G probably benign Het
Evi5 T G 5: 107,968,444 (GRCm39) I184L probably benign Het
Fem1a G C 17: 56,564,791 (GRCm39) D295H probably damaging Het
Hectd4 T C 5: 121,424,799 (GRCm39) F83S probably damaging Het
Hephl1 T C 9: 14,991,436 (GRCm39) T601A probably benign Het
Isoc1 T C 18: 58,804,695 (GRCm39) V201A probably benign Het
Kcnt2 A T 1: 140,501,346 (GRCm39) D830V probably damaging Het
Lrfn1 G T 7: 28,166,544 (GRCm39) C646F possibly damaging Het
Nbeal1 T C 1: 60,299,428 (GRCm39) Y1255H probably benign Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Or4c120 A G 2: 89,001,212 (GRCm39) S115P possibly damaging Het
Or5k16 A T 16: 58,736,697 (GRCm39) Y102* probably null Het
Or9m1 A C 2: 87,733,248 (GRCm39) I257M probably damaging Het
Pik3r4 G A 9: 105,540,328 (GRCm39) A739T probably benign Het
Prpf8 T C 11: 75,386,111 (GRCm39) V920A probably damaging Het
Slc16a7 A C 10: 125,067,016 (GRCm39) S208A probably benign Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Slc35g2 A T 9: 100,435,047 (GRCm39) I208N probably damaging Het
Suclg1 A G 6: 73,233,210 (GRCm39) I51V probably benign Het
Thoc2l T C 5: 104,666,336 (GRCm39) L286P 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
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
Predicted Primers PCR Primer
(F):5'- AGAGATTCCACCATATCCCTGAGGC -3'
(R):5'- TGCAGCAACTGCTGGTATTGCTC -3'

Sequencing Primer
(F):5'- GGCTACCCAACTATAGCCTGG -3'
(R):5'- CTCAGGGGTGGTTTTGAAAACAC -3'
Posted On 2014-01-05