Incidental Mutation 'R1978:Cfap57'
ID 221972
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 039991-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1978 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 118554551-118620777 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118593132 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 598 (S598P)
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: S598P

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000071863
Gene: ENSMUSG00000028730
AA Change: S598P

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: S598P

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000080592
Gene: ENSMUSG00000028730
AA Change: S598P

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.9%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T A 5: 63,898,537 (GRCm38) C205* probably null Het
2810474O19Rik T A 6: 149,326,432 (GRCm38) N325K probably benign Het
4921539E11Rik T A 4: 103,270,764 (GRCm38) T55S possibly damaging Het
Akap12 A G 10: 4,313,855 (GRCm38) D88G probably benign Het
Ankrd53 C A 6: 83,763,203 (GRCm38) F84L probably damaging Het
Apol7b A C 15: 77,423,339 (GRCm38) F319V probably damaging Het
Bsn A G 9: 108,114,549 (GRCm38) S1335P probably benign Het
Cep192 T C 18: 67,803,158 (GRCm38) probably null Het
Commd8 T C 5: 72,165,499 (GRCm38) H25R probably damaging Het
Crisp4 T C 1: 18,128,665 (GRCm38) I143V probably benign Het
Cyp4a12b A T 4: 115,438,145 (GRCm38) T483S probably benign Het
Dbx2 C T 15: 95,632,353 (GRCm38) M244I probably damaging Het
Dnah6 T G 6: 73,121,970 (GRCm38) H1982P possibly damaging Het
Fam220a C A 5: 143,563,127 (GRCm38) P98Q probably damaging Het
Ggnbp1 A G 17: 27,029,543 (GRCm38) K29E possibly damaging Het
Gm14569 A C X: 36,432,128 (GRCm38) M976R probably benign Het
Gm9573 T A 17: 35,622,965 (GRCm38) probably benign Het
Hck G T 2: 153,129,856 (GRCm38) W112C probably damaging Het
Heatr5a A T 12: 51,939,658 (GRCm38) S591T possibly damaging Het
Hhat A G 1: 192,717,107 (GRCm38) S242P probably benign Het
Hnrnpll A G 17: 80,044,518 (GRCm38) S333P probably benign Het
Hoxc6 T C 15: 103,010,007 (GRCm38) probably null Het
Inpp5j G A 11: 3,502,150 (GRCm38) P367S probably damaging Het
Lamc2 A G 1: 153,133,597 (GRCm38) probably null Het
Loxhd1 T A 18: 77,321,642 (GRCm38) I194N possibly damaging Het
Miga1 CCAGGGCAG CCAG 3: 152,335,304 (GRCm38) probably null Het
Mkln1 C T 6: 31,490,530 (GRCm38) Q60* probably null Het
Mybph C A 1: 134,196,996 (GRCm38) H185N probably benign Het
Myo1g T C 11: 6,520,829 (GRCm38) D9G possibly damaging Het
Myo6 A T 9: 80,228,925 (GRCm38) D110V probably damaging Het
Ncoa7 A G 10: 30,691,299 (GRCm38) V412A probably benign Het
Neb T C 2: 52,287,345 (GRCm38) K1328R probably damaging Het
Olfm5 T A 7: 104,164,741 (GRCm38) Q22L unknown Het
Olfr1106 C T 2: 87,048,835 (GRCm38) V134M possibly damaging Het
Olfr1328 A T 4: 118,934,184 (GRCm38) Y221* probably null Het
Olfr1355 A G 10: 78,879,280 (GRCm38) Y36C probably damaging Het
Olfr1414 C A 1: 92,511,777 (GRCm38) G84C probably damaging Het
Olfr1423 T C 19: 12,036,341 (GRCm38) T134A probably benign Het
Olfr414 T A 1: 174,431,091 (GRCm38) I221N probably damaging Het
P3h1 A T 4: 119,247,976 (GRCm38) Q717L probably null Het
Pclo T C 5: 14,713,795 (GRCm38) I4094T unknown Het
Pfdn6 G A 17: 33,939,077 (GRCm38) R73W probably benign Het
Phyhipl A C 10: 70,559,761 (GRCm38) M205R possibly damaging Het
Pitpnm1 C T 19: 4,107,973 (GRCm38) probably null Het
Plcg1 A G 2: 160,752,578 (GRCm38) probably null Het
Pnldc1 A G 17: 12,906,505 (GRCm38) S81P possibly damaging Het
Pno1 T C 11: 17,204,519 (GRCm38) I221V possibly damaging Het
Porcn A G X: 8,204,301 (GRCm38) V75A probably damaging Het
Prkcg T A 7: 3,305,346 (GRCm38) C69S probably damaging Het
Rbbp6 G T 7: 122,999,488 (GRCm38) probably benign Het
Rif1 GCCACCA GCCA 2: 52,110,324 (GRCm38) probably benign Het
Scly A G 1: 91,320,169 (GRCm38) D413G probably damaging Het
Scn11a G A 9: 119,780,795 (GRCm38) R996* probably null Het
Slc6a13 A T 6: 121,332,373 (GRCm38) D281V probably damaging Het
Slfn5 T C 11: 82,956,616 (GRCm38) V109A probably benign Het
Smyd1 A T 6: 71,312,719 (GRCm38) probably null Het
Snx29 T A 16: 11,367,724 (GRCm38) M57K probably benign Het
Stag1 T G 9: 100,888,086 (GRCm38) I603S probably benign Het
Svep1 C A 4: 58,097,292 (GRCm38) C1417F possibly damaging Het
Tbc1d23 T C 16: 57,189,351 (GRCm38) I392V probably benign Het
Tchh T C 3: 93,446,799 (GRCm38) L1182P unknown Het
Tle3 T A 9: 61,394,633 (GRCm38) V108E probably damaging Het
Tmem144 T C 3: 79,825,400 (GRCm38) probably null Het
Tpr T G 1: 150,419,907 (GRCm38) L894V possibly damaging Het
Trappc9 A T 15: 73,000,025 (GRCm38) V472E probably damaging Het
Trim38 T C 13: 23,791,098 (GRCm38) V340A probably damaging Het
Ttc37 T C 13: 76,134,815 (GRCm38) V752A probably benign Het
Ttn A T 2: 76,811,243 (GRCm38) L5176Q possibly damaging Het
Vmn1r12 T A 6: 57,159,509 (GRCm38) I197N possibly damaging Het
Vmn1r26 T C 6: 58,009,126 (GRCm38) Y26C possibly damaging Het
Vwa3a A G 7: 120,758,954 (GRCm38) I83V probably null Het
Xirp1 C T 9: 120,018,591 (GRCm38) E409K probably benign Het
Zc3h14 T G 12: 98,763,922 (GRCm38) I46R probably damaging Het
Zfp976 A G 7: 42,613,841 (GRCm38) C191R 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
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
R5482:Cfap57 UTSW 4 118,569,641 (GRCm38) missense probably benign
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'- TATGACTAGCCAGCAGGTGC -3'
(R):5'- TTCACATGCGGCTACTATACC -3'

Sequencing Primer
(F):5'- GCAACACAGAAACTGCTGG -3'
(R):5'- GCGGCTACTATACCAAATACTATAAG -3'
Posted On 2014-08-25