Incidental Mutation 'R6405:Cfap157'
ID 516240
Institutional Source Beutler Lab
Gene Symbol Cfap157
Ensembl Gene ENSMUSG00000038987
Gene Name cilia and flagella associated protein 157
Synonyms 1700019L03Rik
MMRRC Submission 044550-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R6405 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 32667425-32674417 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 32671408 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 133 (Q133K)
Ref Sequence ENSEMBL: ENSMUSP00000099877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066352] [ENSMUST00000102813]
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 damaging
Transcript: ENSMUST00000102813
AA Change: Q133K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099877
Gene: ENSMUSG00000038987
AA Change: Q133K

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: ENSMUST00000138214
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150918
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192262
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T C 16: 4,669,742 (GRCm39) V769A probably damaging Het
Abca4 A G 3: 121,967,311 (GRCm39) probably null Het
Ahnak2 A T 12: 112,739,771 (GRCm39) S628T probably damaging Het
Ano8 T C 8: 71,935,674 (GRCm39) T315A probably damaging Het
Arhgap32 T A 9: 32,159,784 (GRCm39) V267E probably benign Het
Asnsd1 A T 1: 53,387,154 (GRCm39) S158T probably damaging Het
Asxl2 T A 12: 3,543,758 (GRCm39) V309E probably damaging Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Ccdc110 T A 8: 46,394,734 (GRCm39) Y208* probably null Het
Cfap53 A G 18: 74,492,677 (GRCm39) E467G probably damaging Het
Csmd3 T C 15: 47,683,767 (GRCm39) I1688M probably damaging Het
Cyp3a11 A T 5: 145,799,230 (GRCm39) L319Q probably damaging Het
Dchs2 A G 3: 83,261,570 (GRCm39) I2613V probably benign Het
Dhx35 T A 2: 158,636,839 (GRCm39) W11R probably damaging Het
Dscam C T 16: 96,479,625 (GRCm39) G1174D probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fsip2 A G 2: 82,820,430 (GRCm39) T5388A possibly damaging Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Greb1l T A 18: 10,501,076 (GRCm39) I402K probably benign Het
Hectd3 A T 4: 116,857,821 (GRCm39) M585L probably benign Het
Inpp5k T C 11: 75,524,004 (GRCm39) probably null Het
Lalba T G 15: 98,378,632 (GRCm39) probably null Het
Lgals9 C A 11: 78,862,211 (GRCm39) V125L probably benign Het
Ncbp2 CGTCTGGATG CG 16: 31,775,161 (GRCm39) probably null Het
Or2g25 A G 17: 37,971,014 (GRCm39) I70T possibly damaging Het
Peg10 C CTCG 6: 4,756,453 (GRCm39) probably benign Het
Rab4b T A 7: 26,872,379 (GRCm39) D94V probably damaging Het
Rhpn2 A G 7: 35,071,864 (GRCm39) E243G probably benign Het
Rp1 T C 1: 4,415,994 (GRCm39) D1706G probably damaging Het
Slc29a3 A T 10: 60,551,805 (GRCm39) I413N probably damaging Het
Slc7a9 T C 7: 35,154,064 (GRCm39) L229P probably damaging Het
Tenm2 T C 11: 36,755,686 (GRCm39) H104R probably benign Het
Tmem87a A G 2: 120,210,231 (GRCm39) Y241H probably damaging Het
Trpv5 G T 6: 41,651,602 (GRCm39) T192K probably damaging Het
Unc79 T C 12: 103,134,595 (GRCm39) V2189A probably damaging Het
Vmn2r106 A C 17: 20,499,361 (GRCm39) S183R probably benign Het
Vmn2r112 G T 17: 22,837,216 (GRCm39) C559F probably damaging Het
Wdhd1 T C 14: 47,481,324 (GRCm39) D1031G possibly damaging Het
Wnt5b T C 6: 119,410,457 (GRCm39) S328G probably benign Het
Zcchc7 T C 4: 44,926,032 (GRCm39) Y344H 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
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
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'- AAGTGGCATACAGCTCTTATTACCC -3'
(R):5'- ATGGGATGAACTGGCTGTGC -3'

Sequencing Primer
(F):5'- AGCTCTTATTACCCAAGGGAGCTG -3'
(R):5'- AGAAGCTGTTCCATCAGGAGTTC -3'
Posted On 2018-05-04