Incidental Mutation 'R0730:Cfap57'
ID 67447
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 038911-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0730 (G1)
Quality Score 213
Status Validated
Chromosome 4
Chromosomal Location 118411748-118477974 bp(-) (GRCm39)
Type of Mutation splice site (4 bp from exon)
DNA Base Change (assembly) T to C at 118470117 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000080592 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071972] [ENSMUST00000081921]
AlphaFold Q9D180
Predicted Effect probably null
Transcript: ENSMUST00000071972
SMART Domains Protein: ENSMUSP00000071863
Gene: ENSMUSG00000028730

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 null
Transcript: ENSMUST00000081921
SMART Domains Protein: ENSMUSP00000080592
Gene: ENSMUSG00000028730

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 0.9755 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.8%
  • 20x: 96.1%
Validation Efficiency 99% (99/100)
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam9 A T 8: 25,486,774 (GRCm39) I168N probably benign Het
Adamts20 G A 15: 94,245,571 (GRCm39) A577V probably benign Het
Agtr1a A T 13: 30,565,279 (GRCm39) S115C probably damaging Het
Ankrd11 T C 8: 123,618,692 (GRCm39) Y1720C probably damaging Het
Ano6 A T 15: 95,818,252 (GRCm39) T353S probably damaging Het
App A G 16: 84,876,840 (GRCm39) F184L probably damaging Het
Arhgef38 T A 3: 132,843,232 (GRCm39) Y446F probably benign Het
Aspg T A 12: 112,078,693 (GRCm39) Y57* probably null Het
Atp1a4 G A 1: 172,067,774 (GRCm39) probably benign Het
Bdp1 G A 13: 100,195,459 (GRCm39) probably benign Het
Bicd2 T A 13: 49,531,717 (GRCm39) S246T possibly damaging Het
Brd10 T A 19: 29,695,381 (GRCm39) I1438F probably benign Het
Bsn T A 9: 107,984,011 (GRCm39) M3348L unknown Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Cacna2d3 T C 14: 28,704,322 (GRCm39) I820V probably benign Het
Cdc40 A G 10: 40,720,952 (GRCm39) probably benign Het
Cdh23 T C 10: 60,159,493 (GRCm39) E2094G probably damaging Het
Celsr2 T A 3: 108,305,922 (GRCm39) N2061Y probably damaging Het
Cfap206 G A 4: 34,711,391 (GRCm39) A502V probably benign Het
Cfap54 T C 10: 92,870,599 (GRCm39) T29A probably benign Het
Chd5 A G 4: 152,432,441 (GRCm39) E43G possibly damaging Het
Clk1 G A 1: 58,453,558 (GRCm39) H343Y probably benign Het
Cntn4 A C 6: 106,527,447 (GRCm39) K443T probably damaging Het
Csn2 G A 5: 87,842,811 (GRCm39) A72V possibly damaging Het
Ctdp1 T A 18: 80,493,457 (GRCm39) H346L probably benign Het
Ctif A T 18: 75,698,083 (GRCm39) N192K probably damaging Het
Ddr2 G A 1: 169,823,135 (GRCm39) A383V probably benign Het
Derl3 C T 10: 75,731,076 (GRCm39) probably benign Het
Dgkh T C 14: 78,821,919 (GRCm39) I865V probably damaging Het
Dip2b C T 15: 100,069,532 (GRCm39) A619V probably damaging Het
Elapor1 T A 3: 108,376,851 (GRCm39) H509L probably benign Het
Eml1 A G 12: 108,496,585 (GRCm39) T614A possibly damaging Het
Eogt G C 6: 97,092,970 (GRCm39) Y402* probably null Het
Erbb4 A G 1: 68,298,449 (GRCm39) V647A probably damaging Het
Esm1 G T 13: 113,350,036 (GRCm39) probably null Het
Fbxo31 A G 8: 122,282,103 (GRCm39) probably benign Het
Fbxw5 T A 2: 25,394,630 (GRCm39) D201E possibly damaging Het
Fgfr1 G A 8: 26,045,760 (GRCm39) D123N probably benign Het
G530012D18Rik A C 1: 85,504,757 (GRCm39) probably benign Het
Gnat1 G A 9: 107,556,662 (GRCm39) T29I probably damaging Het
Gtf2ird2 A T 5: 134,221,597 (GRCm39) R67* probably null Het
Il22b A T 10: 118,130,142 (GRCm39) D87E probably benign Het
Kcnq3 T C 15: 65,867,457 (GRCm39) T729A probably benign Het
Klrc2 A T 6: 129,635,659 (GRCm39) S156R probably damaging Het
Krt76 A T 15: 101,795,784 (GRCm39) L462Q probably damaging Het
Lama3 C A 18: 12,589,907 (GRCm39) probably benign Het
Lin28a A T 4: 133,735,319 (GRCm39) S56T probably damaging Het
Macf1 A G 4: 123,276,323 (GRCm39) probably benign Het
Macrod2 C T 2: 142,059,594 (GRCm39) probably benign Het
Mansc1 C T 6: 134,594,424 (GRCm39) probably benign Het
Map1b G T 13: 99,566,274 (GRCm39) S2149* probably null Het
Mgst1 A T 6: 138,124,667 (GRCm39) T34S probably benign Het
Mlf2 C T 6: 124,911,354 (GRCm39) T123M probably damaging Het
Mospd2 C T X: 163,731,253 (GRCm39) probably benign Het
Mrpl15 A T 1: 4,847,834 (GRCm39) V155E probably damaging Het
Mstn A T 1: 53,100,953 (GRCm39) Y10F possibly damaging Het
Myo1g C T 11: 6,470,794 (GRCm39) V21M probably damaging Het
Myom2 T C 8: 15,149,326 (GRCm39) I599T probably benign Het
Ndc80 A T 17: 71,803,241 (GRCm39) N633K probably benign Het
Nhs C A X: 160,620,296 (GRCm39) V1487L possibly damaging Het
Npc1 T C 18: 12,352,382 (GRCm39) T106A probably benign Het
Nup133 C T 8: 124,675,747 (GRCm39) V57M probably benign Het
Nup98 T A 7: 101,809,923 (GRCm39) T536S probably damaging Het
Oprm1 T C 10: 6,782,652 (GRCm39) probably benign Het
Or5j1 T C 2: 86,879,492 (GRCm39) I29M probably benign Het
Or6c219 T A 10: 129,780,980 (GRCm39) H317L probably benign Het
Or8j3 A G 2: 86,029,069 (GRCm39) V9A probably benign Het
Ostf1 C T 19: 18,581,571 (GRCm39) V14I unknown Het
Pcdhb14 C A 18: 37,581,921 (GRCm39) D342E probably damaging Het
Pdia3 G A 2: 121,262,858 (GRCm39) G275S probably damaging Het
Pdpr T C 8: 111,852,387 (GRCm39) probably null Het
Plce1 G A 19: 38,705,135 (GRCm39) V847M probably damaging Het
Pon3 A G 6: 5,230,444 (GRCm39) M288T probably benign Het
Psd2 A T 18: 36,111,627 (GRCm39) D84V possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Ralgapa1 T C 12: 55,712,448 (GRCm39) K1808E probably damaging Het
Ramp3 T C 11: 6,626,476 (GRCm39) probably benign Het
Rasgrf1 T A 9: 89,833,062 (GRCm39) probably benign Het
Rictor A G 15: 6,803,467 (GRCm39) probably benign Het
Rptor A T 11: 119,775,780 (GRCm39) I984F probably benign Het
Slc1a6 C T 10: 78,631,842 (GRCm39) P223S probably benign Het
Taar8b A C 10: 23,967,924 (GRCm39) V90G probably damaging Het
Tbc1d21 A G 9: 58,267,160 (GRCm39) V327A probably benign Het
Tex21 T C 12: 76,250,940 (GRCm39) T499A probably benign Het
Tg A T 15: 66,550,638 (GRCm39) D256V probably damaging Het
Tmf1 A G 6: 97,153,453 (GRCm39) S207P probably benign Het
Tpr A G 1: 150,269,158 (GRCm39) probably benign Het
Ufd1 A G 16: 18,633,637 (GRCm39) T21A probably damaging Het
Unc13a T C 8: 72,108,929 (GRCm39) D115G possibly damaging Het
Usb1 T A 8: 96,070,669 (GRCm39) F198L probably damaging Het
Utrn A T 10: 12,573,902 (GRCm39) probably benign Het
Vars1 A G 17: 35,233,276 (GRCm39) N954S probably damaging Het
Wdr17 C T 8: 55,146,131 (GRCm39) A90T possibly damaging Het
Wdr33 C T 18: 31,968,429 (GRCm39) probably benign Het
Zfp236 A G 18: 82,658,369 (GRCm39) probably benign Het
Zfp445 A T 9: 122,690,823 (GRCm39) V124E probably damaging Het
Zfp616 A T 11: 73,975,648 (GRCm39) H639L probably damaging Het
Zfyve16 C A 13: 92,657,985 (GRCm39) S642I probably damaging Het
Zswim5 C T 4: 116,842,943 (GRCm39) T896I possibly 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
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
R8411:Cfap57 UTSW 4 118,472,128 (GRCm39) missense probably benign
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 PCR Primer
(F):5'- TGCTTGGATGCAGACAGATGCTG -3'
(R):5'- TCTCCGCTTTGCTGAAGGAACC -3'

Sequencing Primer
(F):5'- gtgtagtgcccgcagag -3'
(R):5'- TTTGCTGAAGGAACCCTAAAGC -3'
Posted On 2013-09-03