Incidental Mutation 'R7414:Cfap57'
ID 575280
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 045494-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7414 (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: 98.9%
Validation Efficiency 97% (98/101)
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: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110082I17Rik G A 5: 139,349,779 (GRCm39) T90M probably damaging Het
Abca4 T A 3: 121,896,387 (GRCm39) S540T probably benign Het
Adcy4 G A 14: 56,019,090 (GRCm39) L156F probably benign Het
Adcyap1 T A 17: 93,510,256 (GRCm39) L95M probably damaging Het
Ahctf1 T C 1: 179,611,670 (GRCm39) T567A probably benign Het
Ankrd26 T C 6: 118,485,741 (GRCm39) I1378V possibly damaging Het
Ankrd44 T A 1: 54,706,539 (GRCm39) H639L probably damaging Het
Arfrp1 C T 2: 181,001,307 (GRCm39) R189Q possibly damaging Het
Astn2 T C 4: 65,459,193 (GRCm39) D1126G possibly damaging Het
Bap1 G C 14: 30,975,572 (GRCm39) G139R probably benign Het
Bms1 C T 6: 118,360,706 (GRCm39) R1254Q possibly damaging Het
Ceacam15 A G 7: 16,407,235 (GRCm39) V94A probably benign Het
Cip2a T C 16: 48,821,998 (GRCm39) F209L probably benign Het
Clec2m T C 6: 129,302,596 (GRCm39) T144A probably benign Het
Clock T C 5: 76,410,611 (GRCm39) T87A probably benign Het
Cntrl A T 2: 35,055,479 (GRCm39) I1706L probably benign Het
Cr2 C A 1: 194,832,344 (GRCm39) V981L probably benign Het
Cxcr6 G A 9: 123,639,287 (GRCm39) W103* probably null Het
Dld A T 12: 31,385,525 (GRCm39) F272Y probably damaging Het
Dmrt2 T A 19: 25,650,950 (GRCm39) D45E probably benign Het
Eif2a T A 3: 58,433,502 (GRCm39) L8* probably null Het
Epg5 G T 18: 78,026,747 (GRCm39) R1246L possibly damaging Het
Ets1 T A 9: 32,664,153 (GRCm39) C350* probably null Het
Fam135b C T 15: 71,350,105 (GRCm39) R345Q probably damaging Het
Fbn2 C T 18: 58,229,122 (GRCm39) R696H probably damaging Het
Gbf1 C A 19: 46,271,797 (GRCm39) Y159* probably null Het
Gcsam T C 16: 45,437,301 (GRCm39) probably null Het
Gmpr2 G T 14: 55,910,259 (GRCm39) probably null Het
H2-T3 C A 17: 36,498,275 (GRCm39) V257L not run Het
Hadha A G 5: 30,331,610 (GRCm39) F449L possibly damaging Het
Haus3 T A 5: 34,323,477 (GRCm39) I378L probably benign Het
Hdac7 T A 15: 97,706,392 (GRCm39) H272L probably benign Het
Icam5 T C 9: 20,948,889 (GRCm39) V747A probably damaging Het
Ifrd2 G A 9: 107,467,370 (GRCm39) V81M possibly damaging Het
Insyn2a G T 7: 134,519,738 (GRCm39) A264D probably benign Het
Ipcef1 G T 10: 6,840,673 (GRCm39) C345* probably null Het
Ipmk T A 10: 71,217,124 (GRCm39) F223I probably damaging Het
Itpr2 A T 6: 146,274,706 (GRCm39) N825K probably benign Het
Itprid2 A G 2: 79,475,072 (GRCm39) K344E possibly damaging Het
Kazn G A 4: 141,836,649 (GRCm39) T530I Het
Kmt2d C T 15: 98,737,737 (GRCm39) V5120M unknown Het
Krt6b T G 15: 101,587,449 (GRCm39) D215A probably benign Het
Lgals12 T C 19: 7,581,335 (GRCm39) K124R probably damaging Het
Lpar6 T A 14: 73,476,240 (GRCm39) V67D probably damaging Het
Lrch3 T C 16: 32,818,883 (GRCm39) Y661H probably damaging Het
Lrrc32 A T 7: 98,149,201 (GRCm39) Q660H probably benign Het
Lurap1l T A 4: 80,871,991 (GRCm39) H161Q probably benign Het
Map3k19 A G 1: 127,766,189 (GRCm39) I245T probably damaging Het
Mcf2l T A 8: 13,069,022 (GRCm39) *1119K probably null Het
Mertk C A 2: 128,571,313 (GRCm39) A89E possibly damaging Het
Mical3 A T 6: 121,011,074 (GRCm39) Y375N probably damaging Het
Myo15a T A 11: 60,374,309 (GRCm39) D121E Het
N4bp2l1 T A 5: 150,499,758 (GRCm39) N116I probably damaging Het
Nbeal1 T C 1: 60,233,756 (GRCm39) probably null Het
Nlrp12 A T 7: 3,289,977 (GRCm39) D178E probably benign Het
Nt5c2 C A 19: 46,878,328 (GRCm39) G444C probably damaging Het
Or10g7 T A 9: 39,905,349 (GRCm39) M81K possibly damaging Het
Or2f1b T A 6: 42,739,762 (GRCm39) Y259N probably damaging Het
Or8b48 T C 9: 38,492,764 (GRCm39) F64L probably benign Het
Pdcl2 A C 5: 76,460,359 (GRCm39) S220A possibly damaging Het
Pip5kl1 T C 2: 32,468,247 (GRCm39) S138P possibly damaging Het
Pkd1l1 A T 11: 8,866,267 (GRCm39) N979K Het
Prkcb A T 7: 122,167,450 (GRCm39) T387S possibly damaging Het
Pxdc1 A G 13: 34,821,135 (GRCm39) probably benign Het
Sbf2 C T 7: 109,913,271 (GRCm39) E1668K possibly damaging Het
Sec16a T G 2: 26,313,643 (GRCm39) T455P Het
Sec24b C A 3: 129,803,514 (GRCm39) V412F probably benign Het
Serpina3b A G 12: 104,099,145 (GRCm39) N220S probably benign Het
Sgip1 C T 4: 102,824,821 (GRCm39) Q581* probably null Het
Shf A T 2: 122,190,063 (GRCm39) I175N possibly damaging Het
Slc16a10 G A 10: 40,017,992 (GRCm39) T14M probably benign Het
Slc22a4 A T 11: 53,888,254 (GRCm39) M258K probably benign Het
Slfn8 A T 11: 82,907,618 (GRCm39) Y308* probably null Het
Slfnl1 T C 4: 120,392,451 (GRCm39) Y249H probably damaging Het
Smchd1 T C 17: 71,782,074 (GRCm39) Y29C probably damaging Het
Snai1 C A 2: 167,380,588 (GRCm39) probably null Het
Sntg1 T C 1: 8,518,289 (GRCm39) Y368C probably damaging Het
Snx33 C T 9: 56,833,151 (GRCm39) R306H probably damaging Het
Spop G A 11: 95,365,334 (GRCm39) V126M probably damaging Het
Taar3 A T 10: 23,825,715 (GRCm39) Y87F probably damaging Het
Tarm1 C A 7: 3,545,318 (GRCm39) M177I probably benign Het
Tcerg1l A G 7: 137,819,786 (GRCm39) F485L probably damaging Het
Thsd7b A T 1: 129,556,717 (GRCm39) I435F probably damaging Het
Tiam2 A G 17: 3,464,388 (GRCm39) D39G possibly damaging Het
Tigd4 T C 3: 84,501,128 (GRCm39) V15A probably benign Het
Tll2 T C 19: 41,092,268 (GRCm39) D523G probably damaging Het
Tmem117 A G 15: 94,612,776 (GRCm39) D104G probably damaging Het
Tmem132b T C 5: 125,864,555 (GRCm39) L887P probably damaging Het
Tnfrsf26 A T 7: 143,168,642 (GRCm39) V132D probably damaging Het
Tomt T A 7: 101,549,715 (GRCm39) D191V probably damaging Het
Ttc39b T C 4: 83,160,459 (GRCm39) M373V probably damaging Het
Ttn G A 2: 76,568,493 (GRCm39) P27467S possibly damaging Het
Ttn A C 2: 76,573,130 (GRCm39) V25921G probably damaging Het
Ubxn2a A C 12: 4,941,381 (GRCm39) V75G probably damaging Het
Uchl5 A T 1: 143,682,433 (GRCm39) K319N unknown Het
Ugt2b1 T C 5: 87,073,693 (GRCm39) D222G probably damaging Het
Vmn1r213 A G 13: 23,195,446 (GRCm39) I10V unknown Het
Vps13b T C 15: 35,910,973 (GRCm39) I3579T probably damaging Het
Xpo5 T A 17: 46,532,295 (GRCm39) H443Q probably benign Het
Zfp316 A G 5: 143,250,407 (GRCm39) M2T unknown Het
Zscan4-ps2 A G 7: 11,251,359 (GRCm39) T160A 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
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
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
Posted On 2019-10-07