Incidental Mutation 'R7741:Cfap57'
ID 596537
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 045797-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7741 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 118554551-118620777 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 118614931 bp (GRCm38)
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 100% (53/53)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik C T 10: 76,454,717 (GRCm38) P118S probably damaging Het
Adgrl1 T A 8: 83,929,714 (GRCm38) D215E probably damaging Het
Afap1l2 T C 19: 56,914,482 (GRCm38) D755G probably damaging Het
Akr1c18 T A 13: 4,144,333 (GRCm38) D109V possibly damaging Het
Brdt G A 5: 107,358,886 (GRCm38) R445H probably benign Het
Capn2 C A 1: 182,479,723 (GRCm38) E517* probably null Het
Ccdc189 C A 7: 127,587,987 (GRCm38) V35L probably benign Het
Celsr1 A T 15: 85,979,102 (GRCm38) V1243E possibly damaging Het
Cenpe C G 3: 135,247,335 (GRCm38) probably null Het
Cep135 A G 5: 76,630,970 (GRCm38) E748G probably damaging Het
Col6a1 C A 10: 76,709,909 (GRCm38) A910S unknown Het
Cyp4a14 T A 4: 115,489,959 (GRCm38) probably null Het
Dot1l C T 10: 80,783,544 (GRCm38) R412W probably damaging Het
Dyrk2 T C 10: 118,859,689 (GRCm38) T555A probably benign Het
Foxn3 T C 12: 99,196,328 (GRCm38) N438S probably damaging Het
Gdpd5 T C 7: 99,453,794 (GRCm38) F320S probably damaging Het
Grn A G 11: 102,435,734 (GRCm38) H413R probably damaging Het
Gstm7 A T 3: 107,931,647 (GRCm38) M3K possibly damaging Het
Il17rd A G 14: 27,100,336 (GRCm38) E673G probably damaging Het
Klhl29 T C 12: 5,137,500 (GRCm38) D288G possibly damaging Het
Klk11 G A 7: 43,776,997 (GRCm38) A79T probably benign Het
Kmt2a A G 9: 44,808,062 (GRCm38) V3914A unknown Het
Map2k2 T C 10: 81,121,043 (GRCm38) V307A probably benign Het
Mgea5 A T 19: 45,776,062 (GRCm38) L213H probably damaging Het
Mst1r G T 9: 107,907,120 (GRCm38) probably benign Het
Nr3c2 A G 8: 77,210,646 (GRCm38) E834G probably damaging Het
Ogfod3 T G 11: 121,183,536 (GRCm38) probably null Het
Olfr1454 A T 19: 13,064,059 (GRCm38) Y216F probably damaging Het
Olfr924 T C 9: 38,848,318 (GRCm38) L68P probably damaging Het
Plscr4 A T 9: 92,482,640 (GRCm38) probably null Het
Pou2f1 A G 1: 165,875,875 (GRCm38) S749P probably damaging Het
Ppp4r3b T G 11: 29,205,701 (GRCm38) L556V possibly damaging Het
Psd4 T G 2: 24,401,096 (GRCm38) probably null Het
Rbbp4 T C 4: 129,334,563 (GRCm38) D33G probably damaging Het
Rif1 T A 2: 52,085,141 (GRCm38) M354K probably damaging Het
Rmi1 A G 13: 58,409,253 (GRCm38) K439E probably benign Het
Scgb2b7 A G 7: 31,705,029 (GRCm38) probably null Het
Sdc1 A G 12: 8,791,370 (GRCm38) D237G probably benign Het
Sel1l3 T C 5: 53,200,251 (GRCm38) Y133C probably damaging Het
Snx31 A G 15: 36,523,441 (GRCm38) probably null Het
Snx7 A G 3: 117,838,839 (GRCm38) F201S probably damaging Het
Tas2r131 C T 6: 132,957,475 (GRCm38) V124I possibly damaging Het
Tbx20 A T 9: 24,740,285 (GRCm38) probably null Het
Topbp1 A T 9: 103,320,557 (GRCm38) N445I probably damaging Het
Tpx2 T A 2: 152,867,343 (GRCm38) I31K possibly damaging Het
Trpv3 T A 11: 73,288,262 (GRCm38) V499E probably damaging Het
Tshr G A 12: 91,533,969 (GRCm38) W258* probably null Het
Usp32 G T 11: 84,987,281 (GRCm38) D1543E probably damaging Het
Usp39 A G 6: 72,338,538 (GRCm38) probably benign Het
Vac14 T C 8: 110,634,388 (GRCm38) S197P probably damaging Het
Vars2 A G 17: 35,660,943 (GRCm38) S497P probably damaging Het
Zfp462 C A 4: 55,008,637 (GRCm38) P201Q probably benign Het
Zkscan5 A G 5: 145,221,037 (GRCm38) Q783R possibly 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
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
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
Posted On 2019-11-26