Incidental Mutation 'IGL01284:Cfap157'
ID 72644
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 # IGL01284
Quality Score
Status
Chromosome 2
Chromosomal Location 32667425-32674417 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32671491 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 105 (D105G)
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 possibly damaging
Transcript: ENSMUST00000102813
AA Change: D105G

PolyPhen 2 Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099877
Gene: ENSMUSG00000038987
AA Change: D105G

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
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 A T 6: 86,827,035 (GRCm39) M1L possibly damaging Het
Agr2 A G 12: 36,045,580 (GRCm39) D22G possibly damaging Het
C9orf72 A T 4: 35,218,808 (GRCm39) I17N probably damaging Het
Cck G T 9: 121,319,236 (GRCm39) N82K probably benign Het
Cdh23 A T 10: 60,301,876 (GRCm39) I402N possibly damaging Het
Dhx9 C A 1: 153,340,644 (GRCm39) L665F probably damaging Het
Dlg5 T C 14: 24,196,265 (GRCm39) E1621G probably damaging Het
Dst A G 1: 34,203,009 (GRCm39) Y713C probably damaging Het
Fbp2 T C 13: 62,988,099 (GRCm39) S271G probably benign Het
Gp5 G T 16: 30,128,028 (GRCm39) S215R probably benign Het
Kpnb1 A G 11: 97,056,928 (GRCm39) M647T probably damaging Het
Masp2 A G 4: 148,698,464 (GRCm39) E515G probably damaging Het
Mfge8 A G 7: 78,786,530 (GRCm39) S290P probably damaging Het
Negr1 C T 3: 156,851,854 (GRCm39) P219S probably damaging Het
Nkx2-6 T C 14: 69,409,326 (GRCm39) S26P probably benign Het
Or10a49 C T 7: 108,467,482 (GRCm39) R293K possibly damaging Het
Pdzd9 A C 7: 120,259,494 (GRCm39) Y165D possibly damaging Het
Pik3ca C T 3: 32,516,733 (GRCm39) A987V probably damaging Het
Pomp T A 5: 147,797,491 (GRCm39) probably benign Het
Rbm33 A G 5: 28,615,707 (GRCm39) T17A probably damaging Het
Skic2 T C 17: 35,058,664 (GRCm39) probably benign Het
Slc4a4 G A 5: 89,277,532 (GRCm39) A334T probably benign Het
Tecta A G 9: 42,256,916 (GRCm39) F1587L probably damaging Het
Tex29 C A 8: 11,894,231 (GRCm39) Y46* probably null Het
Tgm5 A G 2: 120,883,028 (GRCm39) S410P possibly damaging Het
Tmtc2 A G 10: 105,107,372 (GRCm39) Y714H possibly damaging Het
Tubgcp6 C T 15: 88,994,258 (GRCm39) R468Q 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
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
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 2013-10-07