Incidental Mutation 'R5482:Cfap57'
ID 434373
Institutional Source Beutler Lab
Gene Symbol Cfap57
Ensembl Gene ENSMUSG00000028730
Gene Name cilia and flagella associated protein 57
Synonyms Wdr65, 1110020C03Rik, C130004B06Rik, LOC384050
MMRRC Submission 043043-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5482 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 118554551-118620777 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 118569641 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 1067 (G1067R)
Ref Sequence ENSEMBL: ENSMUSP00000080592 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071972] [ENSMUST00000081921]
AlphaFold Q9D180
Predicted Effect probably benign
Transcript: ENSMUST00000071972
AA Change: G1067R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000071863
Gene: ENSMUSG00000028730
AA Change: G1067R

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: G1067R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000080592
Gene: ENSMUSG00000028730
AA Change: G1067R

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.4%
  • 10x: 94.5%
  • 20x: 87.6%
Validation Efficiency 99% (68/69)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430573F11Rik A T 8: 36,512,049 (GRCm38) M269L probably benign Het
9230109A22Rik T C 15: 25,138,950 (GRCm38) noncoding transcript Het
Abca15 T C 7: 120,369,147 (GRCm38) L801P probably damaging Het
Acap3 A G 4: 155,900,156 (GRCm38) D212G probably benign Het
Acsl6 G A 11: 54,327,138 (GRCm38) D166N probably damaging Het
Acy1 T C 9: 106,434,639 (GRCm38) probably benign Het
Adgrl3 A G 5: 81,794,513 (GRCm38) N1368S probably damaging Het
Akap5 T C 12: 76,328,826 (GRCm38) I344T probably benign Het
Aplp1 A G 7: 30,440,175 (GRCm38) F399S probably damaging Het
Arap3 A G 18: 37,974,674 (GRCm38) S1302P possibly damaging Het
Bik T G 15: 83,544,134 (GRCm38) V121G probably damaging Het
Birc6 A G 17: 74,662,690 (GRCm38) T4237A probably damaging Het
Birc6 A T 17: 74,641,782 (GRCm38) M3069L possibly damaging Het
Btn2a2 T C 13: 23,486,387 (GRCm38) N59D probably benign Het
Cabyr A G 18: 12,751,439 (GRCm38) S328G possibly damaging Het
Cryl1 A T 14: 57,313,012 (GRCm38) F132I probably damaging Het
Dnah8 G A 17: 30,800,547 (GRCm38) E3865K probably damaging Het
Dock3 G A 9: 106,978,738 (GRCm38) R741* probably null Het
Fam57b A G 7: 126,827,488 (GRCm38) T78A possibly damaging Het
Fam69a C G 5: 107,909,663 (GRCm38) C343S probably damaging Het
Fsip2 C T 2: 82,985,310 (GRCm38) L3796F possibly damaging Het
Gm10722 A C 9: 3,001,041 (GRCm38) Y39S probably benign Het
Gm5535 C A 2: 144,174,572 (GRCm38) noncoding transcript Het
Gmcl1 A T 6: 86,718,073 (GRCm38) M202K probably damaging Het
Hecw2 T A 1: 53,926,201 (GRCm38) M489L probably benign Het
Lrrk1 A G 7: 66,330,670 (GRCm38) I254T probably benign Het
Lrrn3 G A 12: 41,452,387 (GRCm38) L644F probably benign Het
Lrrn3 A C 12: 41,452,388 (GRCm38) C643W probably damaging Het
Nr2f6 A T 8: 71,374,538 (GRCm38) I373N probably damaging Het
Nt5dc3 A G 10: 86,811,531 (GRCm38) Y130C probably damaging Het
Olfr1448 T C 19: 12,919,905 (GRCm38) T135A probably damaging Het
Olfr788 T C 10: 129,473,078 (GRCm38) Y129H probably benign Het
Otogl T A 10: 107,821,941 (GRCm38) I1043F probably damaging Het
Padi3 G A 4: 140,795,843 (GRCm38) T302I probably damaging Het
Pcdhgb5 A G 18: 37,731,532 (GRCm38) N127D probably damaging Het
Pign A G 1: 105,546,710 (GRCm38) F876L probably benign Het
Pip5k1c A G 10: 81,293,063 (GRCm38) E2G probably damaging Het
Ppp1r18 G A 17: 35,873,879 (GRCm38) E141K probably damaging Het
Ralbp1 A C 17: 65,861,568 (GRCm38) Y247* probably null Het
Ripply2 A G 9: 87,015,567 (GRCm38) E8G possibly damaging Het
Rufy3 TAAGCA TA 5: 88,637,332 (GRCm38) probably null Het
Skint2 T G 4: 112,625,879 (GRCm38) C160W probably damaging Het
Sun2 C T 15: 79,737,511 (GRCm38) R172Q probably benign Het
Syna A G 5: 134,559,174 (GRCm38) L307P possibly damaging Het
Trappc12 T C 12: 28,691,325 (GRCm38) K795R probably damaging Het
Ttll11 A G 2: 35,752,406 (GRCm38) S638P probably damaging Het
Usp2 G A 9: 44,089,183 (GRCm38) probably null Het
Vmn2r26 A T 6: 124,061,326 (GRCm38) E620V possibly damaging Het
Wdr36 A T 18: 32,841,904 (GRCm38) H103L probably benign Het
Wnt5b T C 6: 119,446,431 (GRCm38) T78A probably benign Het
Zc2hc1b C T 10: 13,153,526 (GRCm38) R146Q probably damaging Het
Other mutations in Cfap57
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Cfap57 APN 4 118,581,001 (GRCm38) missense probably benign 0.01
IGL00508:Cfap57 APN 4 118,581,170 (GRCm38) splice site probably null
IGL00857:Cfap57 APN 4 118,612,923 (GRCm38) critical splice donor site probably null
IGL01147:Cfap57 APN 4 118,589,001 (GRCm38) missense probably damaging 0.97
IGL01396:Cfap57 APN 4 118,610,595 (GRCm38) missense probably damaging 1.00
IGL01420:Cfap57 APN 4 118,612,940 (GRCm38) missense probably benign 0.21
IGL01615:Cfap57 APN 4 118,600,796 (GRCm38) missense probably damaging 1.00
IGL02154:Cfap57 APN 4 118,613,017 (GRCm38) missense probably damaging 1.00
IGL02161:Cfap57 APN 4 118,579,372 (GRCm38) missense possibly damaging 0.75
IGL02481:Cfap57 APN 4 118,581,105 (GRCm38) missense probably damaging 1.00
IGL02483:Cfap57 APN 4 118,581,105 (GRCm38) missense probably damaging 1.00
IGL02503:Cfap57 APN 4 118,569,348 (GRCm38) critical splice donor site probably null
IGL02800:Cfap57 APN 4 118,614,750 (GRCm38) missense probably damaging 1.00
IGL03083:Cfap57 APN 4 118,584,739 (GRCm38) missense probably damaging 0.96
IGL03146:Cfap57 APN 4 118,599,019 (GRCm38) missense probably damaging 1.00
IGL03246:Cfap57 APN 4 118,576,645 (GRCm38) missense probably benign 0.29
IGL03376:Cfap57 APN 4 118,584,720 (GRCm38) missense probably damaging 0.96
G1Funyon:Cfap57 UTSW 4 118,593,074 (GRCm38) missense possibly damaging 0.94
R0144:Cfap57 UTSW 4 118,584,705 (GRCm38) missense probably damaging 1.00
R0184:Cfap57 UTSW 4 118,599,012 (GRCm38) missense probably damaging 1.00
R0415:Cfap57 UTSW 4 118,569,431 (GRCm38) missense possibly damaging 0.89
R0515:Cfap57 UTSW 4 118,620,402 (GRCm38) missense probably damaging 1.00
R0690:Cfap57 UTSW 4 118,569,727 (GRCm38) splice site probably benign
R0730:Cfap57 UTSW 4 118,612,920 (GRCm38) splice site probably null
R0737:Cfap57 UTSW 4 118,581,102 (GRCm38) missense possibly damaging 0.81
R0854:Cfap57 UTSW 4 118,561,872 (GRCm38) missense probably benign 0.04
R0880:Cfap57 UTSW 4 118,581,838 (GRCm38) nonsense probably null
R1085:Cfap57 UTSW 4 118,595,779 (GRCm38) missense probably benign 0.20
R1119:Cfap57 UTSW 4 118,606,676 (GRCm38) nonsense probably null
R1217:Cfap57 UTSW 4 118,606,652 (GRCm38) missense possibly damaging 0.67
R1294:Cfap57 UTSW 4 118,606,534 (GRCm38) critical splice donor site probably null
R1487:Cfap57 UTSW 4 118,614,781 (GRCm38) missense probably benign 0.01
R1676:Cfap57 UTSW 4 118,595,940 (GRCm38) missense probably damaging 1.00
R1688:Cfap57 UTSW 4 118,569,646 (GRCm38) missense probably null 0.20
R1709:Cfap57 UTSW 4 118,571,704 (GRCm38) missense probably benign 0.00
R1719:Cfap57 UTSW 4 118,606,631 (GRCm38) missense probably benign 0.04
R1782:Cfap57 UTSW 4 118,614,975 (GRCm38) missense probably damaging 0.98
R1791:Cfap57 UTSW 4 118,571,724 (GRCm38) missense possibly damaging 0.66
R1850:Cfap57 UTSW 4 118,599,894 (GRCm38) missense probably damaging 1.00
R1866:Cfap57 UTSW 4 118,599,927 (GRCm38) missense possibly damaging 0.49
R1912:Cfap57 UTSW 4 118,615,010 (GRCm38) missense probably damaging 0.96
R1978:Cfap57 UTSW 4 118,593,132 (GRCm38) missense probably benign 0.03
R2177:Cfap57 UTSW 4 118,606,688 (GRCm38) missense probably benign 0.00
R2322:Cfap57 UTSW 4 118,610,725 (GRCm38) missense probably benign
R3905:Cfap57 UTSW 4 118,595,839 (GRCm38) missense probably damaging 1.00
R4013:Cfap57 UTSW 4 118,593,143 (GRCm38) missense probably benign 0.01
R4079:Cfap57 UTSW 4 118,598,997 (GRCm38) missense probably benign 0.34
R4962:Cfap57 UTSW 4 118,613,065 (GRCm38) missense probably benign 0.21
R4970:Cfap57 UTSW 4 118,620,371 (GRCm38) missense probably damaging 0.99
R4974:Cfap57 UTSW 4 118,593,054 (GRCm38) missense probably damaging 1.00
R4999:Cfap57 UTSW 4 118,595,848 (GRCm38) missense probably benign 0.01
R5522:Cfap57 UTSW 4 118,595,888 (GRCm38) missense probably benign 0.41
R5626:Cfap57 UTSW 4 118,614,783 (GRCm38) missense probably damaging 1.00
R5685:Cfap57 UTSW 4 118,569,459 (GRCm38) missense probably benign
R5712:Cfap57 UTSW 4 118,614,795 (GRCm38) missense probably damaging 1.00
R5961:Cfap57 UTSW 4 118,571,745 (GRCm38) missense probably benign 0.00
R6244:Cfap57 UTSW 4 118,579,410 (GRCm38) missense probably damaging 0.99
R6268:Cfap57 UTSW 4 118,569,451 (GRCm38) nonsense probably null
R6271:Cfap57 UTSW 4 118,595,759 (GRCm38) missense probably benign 0.13
R6330:Cfap57 UTSW 4 118,569,396 (GRCm38) missense probably benign
R6439:Cfap57 UTSW 4 118,588,975 (GRCm38) critical splice donor site probably null
R6639:Cfap57 UTSW 4 118,554,712 (GRCm38) missense probably benign 0.13
R6722:Cfap57 UTSW 4 118,584,717 (GRCm38) missense probably damaging 1.00
R7033:Cfap57 UTSW 4 118,613,126 (GRCm38) missense possibly damaging 0.67
R7143:Cfap57 UTSW 4 118,620,709 (GRCm38) unclassified probably benign
R7162:Cfap57 UTSW 4 118,614,931 (GRCm38) missense probably benign
R7174:Cfap57 UTSW 4 118,589,067 (GRCm38) missense probably benign 0.35
R7210:Cfap57 UTSW 4 118,576,703 (GRCm38) nonsense probably null
R7242:Cfap57 UTSW 4 118,593,096 (GRCm38) missense possibly damaging 0.50
R7244:Cfap57 UTSW 4 118,554,800 (GRCm38) nonsense probably null
R7359:Cfap57 UTSW 4 118,598,965 (GRCm38) missense probably benign 0.01
R7373:Cfap57 UTSW 4 118,614,931 (GRCm38) missense probably benign
R7394:Cfap57 UTSW 4 118,593,137 (GRCm38) missense probably benign 0.00
R7401:Cfap57 UTSW 4 118,614,931 (GRCm38) missense probably benign
R7412:Cfap57 UTSW 4 118,614,931 (GRCm38) missense probably benign
R7414:Cfap57 UTSW 4 118,614,931 (GRCm38) missense probably benign
R7452:Cfap57 UTSW 4 118,595,784 (GRCm38) missense probably damaging 1.00
R7457:Cfap57 UTSW 4 118,589,001 (GRCm38) missense probably damaging 0.97
R7559:Cfap57 UTSW 4 118,614,931 (GRCm38) missense probably benign
R7642:Cfap57 UTSW 4 118,614,931 (GRCm38) missense probably benign
R7741:Cfap57 UTSW 4 118,614,931 (GRCm38) missense probably benign
R7744:Cfap57 UTSW 4 118,614,931 (GRCm38) missense probably benign
R7745:Cfap57 UTSW 4 118,614,931 (GRCm38) missense probably benign
R7842:Cfap57 UTSW 4 118,554,755 (GRCm38) nonsense probably null
R7936:Cfap57 UTSW 4 118,614,931 (GRCm38) missense probably benign
R7940:Cfap57 UTSW 4 118,614,931 (GRCm38) missense probably benign
R7942:Cfap57 UTSW 4 118,614,931 (GRCm38) missense probably benign
R8074:Cfap57 UTSW 4 118,569,625 (GRCm38) missense possibly damaging 0.66
R8301:Cfap57 UTSW 4 118,593,074 (GRCm38) missense possibly damaging 0.94
R8411:Cfap57 UTSW 4 118,614,931 (GRCm38) missense probably benign
R8447:Cfap57 UTSW 4 118,614,931 (GRCm38) missense probably benign
R8491:Cfap57 UTSW 4 118,614,931 (GRCm38) missense probably benign
R8524:Cfap57 UTSW 4 118,614,931 (GRCm38) missense probably benign
R8670:Cfap57 UTSW 4 118,614,925 (GRCm38) missense possibly damaging 0.91
R8707:Cfap57 UTSW 4 118,593,006 (GRCm38) missense probably benign 0.04
R8790:Cfap57 UTSW 4 118,581,914 (GRCm38) missense possibly damaging 0.59
R8941:Cfap57 UTSW 4 118,569,602 (GRCm38) missense probably damaging 0.99
R9139:Cfap57 UTSW 4 118,554,851 (GRCm38) missense probably benign 0.02
R9212:Cfap57 UTSW 4 118,579,452 (GRCm38) missense possibly damaging 0.95
R9442:Cfap57 UTSW 4 118,606,534 (GRCm38) critical splice donor site probably null
R9525:Cfap57 UTSW 4 118,576,581 (GRCm38) missense probably damaging 1.00
X0022:Cfap57 UTSW 4 118,614,745 (GRCm38) missense probably benign
Z1088:Cfap57 UTSW 4 118,581,882 (GRCm38) missense probably benign 0.22
Z1177:Cfap57 UTSW 4 118,598,956 (GRCm38) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TGAGTTCAACCCTGCAATCTCC -3'
(R):5'- CATCTAGGTTTCTGTGCCCAG -3'

Sequencing Primer
(F):5'- TGCAATCTCCACCTGGCG -3'
(R):5'- CAGTCAGGTGTTCATCCCAGATG -3'
Posted On 2016-10-06