Incidental Mutation 'R8411:Cfap57'
ID 652666
Institutional Source Beutler Lab
Gene Symbol Cfap57
Ensembl Gene ENSMUSG00000028730
Gene Name cilia and flagella associated protein 57
Synonyms LOC384050, Wdr65, 1110020C03Rik, C130004B06Rik
MMRRC Submission 067881-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8411 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 118411748-118477974 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 118472128 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 84 (V84I)
Ref Sequence ENSEMBL: ENSMUSP00000071863 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071972] [ENSMUST00000081921]
AlphaFold Q9D180
Predicted Effect probably benign
Transcript: ENSMUST00000071972
AA Change: V84I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000071863
Gene: ENSMUSG00000028730
AA Change: V84I

DomainStartEndE-ValueType
Blast:WD40 44 88 3e-12 BLAST
Blast:WD40 95 137 1e-9 BLAST
WD40 140 181 1.77e2 SMART
internal_repeat_1 182 237 7.23e-5 PROSPERO
WD40 329 365 1.27e2 SMART
WD40 376 416 3.4e-2 SMART
WD40 418 456 1.59e1 SMART
Blast:WD40 461 497 4e-18 BLAST
WD40 500 539 9.67e-7 SMART
WD40 544 581 3.96e1 SMART
Blast:WD40 582 621 8e-16 BLAST
WD40 626 665 3.21e-1 SMART
coiled coil region 690 1056 N/A INTRINSIC
coiled coil region 1094 1166 N/A INTRINSIC
coiled coil region 1197 1222 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000081921
AA Change: V84I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000080592
Gene: ENSMUSG00000028730
AA Change: V84I

DomainStartEndE-ValueType
Blast:WD40 44 88 3e-12 BLAST
Blast:WD40 95 137 1e-9 BLAST
WD40 140 181 1.77e2 SMART
internal_repeat_1 182 237 7.23e-5 PROSPERO
WD40 329 365 1.27e2 SMART
WD40 376 416 3.4e-2 SMART
WD40 418 456 1.59e1 SMART
Blast:WD40 461 497 4e-18 BLAST
WD40 500 539 9.67e-7 SMART
WD40 544 581 3.96e1 SMART
Blast:WD40 582 621 8e-16 BLAST
WD40 626 665 3.21e-1 SMART
coiled coil region 690 1056 N/A INTRINSIC
coiled coil region 1094 1166 N/A INTRINSIC
coiled coil region 1197 1222 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member is thought to function in craniofacial development, possibly in the fusion of lip and palate. A missense mutation in this gene is associated with Van der Woude syndrome 2. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik A G 5: 113,285,588 (GRCm39) S89P probably benign Het
Aatf A T 11: 84,361,502 (GRCm39) M367K probably benign Het
Adam18 A T 8: 25,142,143 (GRCm39) I211N probably damaging Het
Angpt1 T C 15: 42,290,430 (GRCm39) Y478C probably damaging Het
Apba2 A T 7: 64,386,674 (GRCm39) I434F probably damaging Het
Arfgef1 T A 1: 10,286,759 (GRCm39) K50N probably benign Het
Arfgef2 A T 2: 166,715,903 (GRCm39) Q1397H probably benign Het
Ascc2 G A 11: 4,597,208 (GRCm39) R129Q probably damaging Het
Atxn1 A G 13: 45,720,032 (GRCm39) V621A probably benign Het
Catsperz A T 19: 6,899,930 (GRCm39) L192M probably benign Het
Cd5 G A 19: 10,697,585 (GRCm39) P465S probably damaging Het
Cfap61 A G 2: 145,789,103 (GRCm39) E94G probably benign Het
Chd1 A G 17: 15,982,711 (GRCm39) H1392R probably damaging Het
Csnk1a1 A G 18: 61,688,888 (GRCm39) I23V probably benign Het
Ctnnd2 C T 15: 30,647,179 (GRCm39) R292C probably benign Het
Dcaf6 T A 1: 165,216,244 (GRCm39) H453L probably benign Het
Dnah3 C A 7: 119,610,253 (GRCm39) D1728Y probably damaging Het
Dtx3 T C 10: 127,028,693 (GRCm39) K179E possibly damaging Het
Fam3b T A 16: 97,283,053 (GRCm39) Y74F probably benign Het
Gm5464 T C 14: 67,106,555 (GRCm39) L64P unknown Het
Gm5624 T G 14: 44,799,347 (GRCm39) N70T Het
Kcnh7 T A 2: 62,594,952 (GRCm39) H706L probably damaging Het
Kdm2b C T 5: 123,018,239 (GRCm39) R1067H probably damaging Het
Klhl28 A T 12: 64,996,864 (GRCm39) H492Q probably damaging Het
Loxl3 T A 6: 83,027,605 (GRCm39) C716S probably damaging Het
Ltbp2 A G 12: 84,833,187 (GRCm39) Y1474H probably damaging Het
Mcm3 C T 1: 20,886,980 (GRCm39) V142I probably benign Het
Mmp24 G T 2: 155,655,935 (GRCm39) V458L probably benign Het
Mpl C A 4: 118,303,306 (GRCm39) S502I Het
Nfatc1 A T 18: 80,710,257 (GRCm39) V503D probably damaging Het
Nim1k A G 13: 120,175,807 (GRCm39) I133T possibly damaging Het
Nr1d2 T C 14: 18,215,031 (GRCm38) Y327C probably damaging Het
Oma1 C T 4: 103,186,113 (GRCm39) R360* probably null Het
Oog2 T A 4: 143,920,743 (GRCm39) W59R probably damaging Het
Or4c109 T C 2: 88,818,409 (GRCm39) T46A probably benign Het
Pcdh10 A G 3: 45,333,974 (GRCm39) E96G probably damaging Het
Pcna T A 2: 132,093,850 (GRCm39) T98S probably benign Het
Pcnx3 C T 19: 5,729,618 (GRCm39) C899Y possibly damaging Het
Phf11d T C 14: 59,593,883 (GRCm39) N97S probably benign Het
Plekhg4 G A 8: 106,103,961 (GRCm39) W431* probably null Het
Plk4 A G 3: 40,767,901 (GRCm39) T815A probably benign Het
Pnma2 C T 14: 67,153,762 (GRCm39) T62I possibly damaging Het
Ppp1r9a C T 6: 5,057,568 (GRCm39) R548W probably damaging Het
Ptx3 A G 3: 66,132,201 (GRCm39) S241G probably benign Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Rplp0 A T 5: 115,698,823 (GRCm39) K26N probably damaging Het
Sec62 A C 3: 30,872,931 (GRCm39) E338A unknown Het
Sema6a T C 18: 47,382,022 (GRCm39) M842V probably benign Het
Serpina3j T C 12: 104,281,043 (GRCm39) V72A probably benign Het
Siglecf T C 7: 43,001,368 (GRCm39) F112S probably damaging Het
Slc29a4 A G 5: 142,705,880 (GRCm39) N455D probably damaging Het
Slc6a11 T A 6: 114,108,398 (GRCm39) F54Y probably benign Het
Spag6 G A 2: 18,715,394 (GRCm39) V80M probably damaging Het
Spic T C 10: 88,514,498 (GRCm39) E34G possibly damaging Het
Tecpr2 A G 12: 110,898,154 (GRCm39) K469E possibly damaging Het
Them7 T A 2: 105,128,190 (GRCm39) L57Q probably benign Het
Tlr3 G A 8: 45,849,978 (GRCm39) A897V probably damaging Het
Tnp2 A G 16: 10,606,372 (GRCm39) C32R possibly damaging Het
Trpm6 A T 19: 18,831,332 (GRCm39) Q1399L probably benign Het
Ttn C A 2: 76,677,015 (GRCm39) E11074* probably null Het
Ubash3b G A 9: 40,954,781 (GRCm39) A243V probably benign Het
Vash1 G A 12: 86,726,952 (GRCm39) R64Q possibly damaging Het
Vmn1r167 T A 7: 23,204,981 (GRCm39) M12L possibly damaging Het
Vmn2r111 T A 17: 22,767,562 (GRCm39) H645L probably benign Het
Vmn2r75 A T 7: 85,797,722 (GRCm39) I697K probably damaging Het
Vmn2r87 A G 10: 130,308,126 (GRCm39) I704T probably damaging Het
Other mutations in Cfap57
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Cfap57 APN 4 118,438,198 (GRCm39) missense probably benign 0.01
IGL00508:Cfap57 APN 4 118,438,367 (GRCm39) splice site probably null
IGL00857:Cfap57 APN 4 118,470,120 (GRCm39) critical splice donor site probably null
IGL01147:Cfap57 APN 4 118,446,198 (GRCm39) missense probably damaging 0.97
IGL01396:Cfap57 APN 4 118,467,792 (GRCm39) missense probably damaging 1.00
IGL01420:Cfap57 APN 4 118,470,137 (GRCm39) missense probably benign 0.21
IGL01615:Cfap57 APN 4 118,457,993 (GRCm39) missense probably damaging 1.00
IGL02154:Cfap57 APN 4 118,470,214 (GRCm39) missense probably damaging 1.00
IGL02161:Cfap57 APN 4 118,436,569 (GRCm39) missense possibly damaging 0.75
IGL02481:Cfap57 APN 4 118,438,302 (GRCm39) missense probably damaging 1.00
IGL02483:Cfap57 APN 4 118,438,302 (GRCm39) missense probably damaging 1.00
IGL02503:Cfap57 APN 4 118,426,545 (GRCm39) critical splice donor site probably null
IGL02800:Cfap57 APN 4 118,471,947 (GRCm39) missense probably damaging 1.00
IGL03083:Cfap57 APN 4 118,441,936 (GRCm39) missense probably damaging 0.96
IGL03146:Cfap57 APN 4 118,456,216 (GRCm39) missense probably damaging 1.00
IGL03246:Cfap57 APN 4 118,433,842 (GRCm39) missense probably benign 0.29
IGL03376:Cfap57 APN 4 118,441,917 (GRCm39) missense probably damaging 0.96
G1Funyon:Cfap57 UTSW 4 118,450,271 (GRCm39) missense possibly damaging 0.94
R0144:Cfap57 UTSW 4 118,441,902 (GRCm39) missense probably damaging 1.00
R0184:Cfap57 UTSW 4 118,456,209 (GRCm39) missense probably damaging 1.00
R0415:Cfap57 UTSW 4 118,426,628 (GRCm39) missense possibly damaging 0.89
R0515:Cfap57 UTSW 4 118,477,599 (GRCm39) missense probably damaging 1.00
R0690:Cfap57 UTSW 4 118,426,924 (GRCm39) splice site probably benign
R0730:Cfap57 UTSW 4 118,470,117 (GRCm39) splice site probably null
R0737:Cfap57 UTSW 4 118,438,299 (GRCm39) missense possibly damaging 0.81
R0854:Cfap57 UTSW 4 118,419,069 (GRCm39) missense probably benign 0.04
R0880:Cfap57 UTSW 4 118,439,035 (GRCm39) nonsense probably null
R1085:Cfap57 UTSW 4 118,452,976 (GRCm39) missense probably benign 0.20
R1119:Cfap57 UTSW 4 118,463,873 (GRCm39) nonsense probably null
R1217:Cfap57 UTSW 4 118,463,849 (GRCm39) missense possibly damaging 0.67
R1294:Cfap57 UTSW 4 118,463,731 (GRCm39) critical splice donor site probably null
R1487:Cfap57 UTSW 4 118,471,978 (GRCm39) missense probably benign 0.01
R1676:Cfap57 UTSW 4 118,453,137 (GRCm39) missense probably damaging 1.00
R1688:Cfap57 UTSW 4 118,426,843 (GRCm39) missense probably null 0.20
R1709:Cfap57 UTSW 4 118,428,901 (GRCm39) missense probably benign 0.00
R1719:Cfap57 UTSW 4 118,463,828 (GRCm39) missense probably benign 0.04
R1782:Cfap57 UTSW 4 118,472,172 (GRCm39) missense probably damaging 0.98
R1791:Cfap57 UTSW 4 118,428,921 (GRCm39) missense possibly damaging 0.66
R1850:Cfap57 UTSW 4 118,457,091 (GRCm39) missense probably damaging 1.00
R1866:Cfap57 UTSW 4 118,457,124 (GRCm39) missense possibly damaging 0.49
R1912:Cfap57 UTSW 4 118,472,207 (GRCm39) missense probably damaging 0.96
R1978:Cfap57 UTSW 4 118,450,329 (GRCm39) missense probably benign 0.03
R2177:Cfap57 UTSW 4 118,463,885 (GRCm39) missense probably benign 0.00
R2322:Cfap57 UTSW 4 118,467,922 (GRCm39) missense probably benign
R3905:Cfap57 UTSW 4 118,453,036 (GRCm39) missense probably damaging 1.00
R4013:Cfap57 UTSW 4 118,450,340 (GRCm39) missense probably benign 0.01
R4079:Cfap57 UTSW 4 118,456,194 (GRCm39) missense probably benign 0.34
R4962:Cfap57 UTSW 4 118,470,262 (GRCm39) missense probably benign 0.21
R4970:Cfap57 UTSW 4 118,477,568 (GRCm39) missense probably damaging 0.99
R4974:Cfap57 UTSW 4 118,450,251 (GRCm39) missense probably damaging 1.00
R4999:Cfap57 UTSW 4 118,453,045 (GRCm39) missense probably benign 0.01
R5482:Cfap57 UTSW 4 118,426,838 (GRCm39) missense probably benign
R5522:Cfap57 UTSW 4 118,453,085 (GRCm39) missense probably benign 0.41
R5626:Cfap57 UTSW 4 118,471,980 (GRCm39) missense probably damaging 1.00
R5685:Cfap57 UTSW 4 118,426,656 (GRCm39) missense probably benign
R5712:Cfap57 UTSW 4 118,471,992 (GRCm39) missense probably damaging 1.00
R5961:Cfap57 UTSW 4 118,428,942 (GRCm39) missense probably benign 0.00
R6244:Cfap57 UTSW 4 118,436,607 (GRCm39) missense probably damaging 0.99
R6268:Cfap57 UTSW 4 118,426,648 (GRCm39) nonsense probably null
R6271:Cfap57 UTSW 4 118,452,956 (GRCm39) missense probably benign 0.13
R6330:Cfap57 UTSW 4 118,426,593 (GRCm39) missense probably benign
R6439:Cfap57 UTSW 4 118,446,172 (GRCm39) critical splice donor site probably null
R6639:Cfap57 UTSW 4 118,411,909 (GRCm39) missense probably benign 0.13
R6722:Cfap57 UTSW 4 118,441,914 (GRCm39) missense probably damaging 1.00
R7033:Cfap57 UTSW 4 118,470,323 (GRCm39) missense possibly damaging 0.67
R7143:Cfap57 UTSW 4 118,477,906 (GRCm39) unclassified probably benign
R7162:Cfap57 UTSW 4 118,472,128 (GRCm39) missense probably benign
R7174:Cfap57 UTSW 4 118,446,264 (GRCm39) missense probably benign 0.35
R7210:Cfap57 UTSW 4 118,433,900 (GRCm39) nonsense probably null
R7242:Cfap57 UTSW 4 118,450,293 (GRCm39) missense possibly damaging 0.50
R7244:Cfap57 UTSW 4 118,411,997 (GRCm39) nonsense probably null
R7359:Cfap57 UTSW 4 118,456,162 (GRCm39) missense probably benign 0.01
R7373:Cfap57 UTSW 4 118,472,128 (GRCm39) missense probably benign
R7394:Cfap57 UTSW 4 118,450,334 (GRCm39) missense probably benign 0.00
R7401:Cfap57 UTSW 4 118,472,128 (GRCm39) missense probably benign
R7412:Cfap57 UTSW 4 118,472,128 (GRCm39) missense probably benign
R7414:Cfap57 UTSW 4 118,472,128 (GRCm39) missense probably benign
R7452:Cfap57 UTSW 4 118,452,981 (GRCm39) missense probably damaging 1.00
R7457:Cfap57 UTSW 4 118,446,198 (GRCm39) missense probably damaging 0.97
R7559:Cfap57 UTSW 4 118,472,128 (GRCm39) missense probably benign
R7642:Cfap57 UTSW 4 118,472,128 (GRCm39) missense probably benign
R7741:Cfap57 UTSW 4 118,472,128 (GRCm39) missense probably benign
R7744:Cfap57 UTSW 4 118,472,128 (GRCm39) missense probably benign
R7745:Cfap57 UTSW 4 118,472,128 (GRCm39) missense probably benign
R7842:Cfap57 UTSW 4 118,411,952 (GRCm39) nonsense probably null
R7936:Cfap57 UTSW 4 118,472,128 (GRCm39) missense probably benign
R7940:Cfap57 UTSW 4 118,472,128 (GRCm39) missense probably benign
R7942:Cfap57 UTSW 4 118,472,128 (GRCm39) missense probably benign
R8074:Cfap57 UTSW 4 118,426,822 (GRCm39) missense possibly damaging 0.66
R8301:Cfap57 UTSW 4 118,450,271 (GRCm39) missense possibly damaging 0.94
R8447:Cfap57 UTSW 4 118,472,128 (GRCm39) missense probably benign
R8491:Cfap57 UTSW 4 118,472,128 (GRCm39) missense probably benign
R8524:Cfap57 UTSW 4 118,472,128 (GRCm39) missense probably benign
R8670:Cfap57 UTSW 4 118,472,122 (GRCm39) missense possibly damaging 0.91
R8707:Cfap57 UTSW 4 118,450,203 (GRCm39) missense probably benign 0.04
R8790:Cfap57 UTSW 4 118,439,111 (GRCm39) missense possibly damaging 0.59
R8941:Cfap57 UTSW 4 118,426,799 (GRCm39) missense probably damaging 0.99
R9139:Cfap57 UTSW 4 118,412,048 (GRCm39) missense probably benign 0.02
R9212:Cfap57 UTSW 4 118,436,649 (GRCm39) missense possibly damaging 0.95
R9442:Cfap57 UTSW 4 118,463,731 (GRCm39) critical splice donor site probably null
R9525:Cfap57 UTSW 4 118,433,778 (GRCm39) missense probably damaging 1.00
X0022:Cfap57 UTSW 4 118,471,942 (GRCm39) missense probably benign
Z1088:Cfap57 UTSW 4 118,439,079 (GRCm39) missense probably benign 0.22
Z1177:Cfap57 UTSW 4 118,456,153 (GRCm39) critical splice donor site probably null
Predicted Primers
Posted On 2020-10-20