Incidental Mutation 'R7401:Cfap57'
ID 574155
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 045483-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7401 (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: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik A T 16: 16,936,268 (GRCm39) L152Q probably benign Het
Abcg3 A T 5: 105,114,640 (GRCm39) N292K probably damaging Het
Adamts3 T A 5: 89,855,309 (GRCm39) probably null Het
Adgrg7 T C 16: 56,562,781 (GRCm39) N519D probably benign Het
Adsl A G 15: 80,846,983 (GRCm39) H263R probably damaging Het
Ak9 A T 10: 41,299,000 (GRCm39) D1567V unknown Het
Bscl2 T C 19: 8,823,914 (GRCm39) F280L possibly damaging Het
Cacna1b T A 2: 24,569,306 (GRCm39) T873S probably benign Het
Cacna1c T C 6: 119,029,669 (GRCm39) probably null Het
Cast G T 13: 74,956,577 (GRCm39) A18E unknown Het
Cd207 A C 6: 83,654,830 (GRCm39) probably benign Het
Cd79b A G 11: 106,203,678 (GRCm39) S130P probably benign Het
Cfap52 A T 11: 67,840,459 (GRCm39) N157K probably benign Het
Chaf1b G T 16: 93,681,268 (GRCm39) probably benign Het
Cntn1 A G 15: 92,215,870 (GRCm39) I968V probably benign Het
Cntn5 C T 9: 9,833,466 (GRCm39) V362I probably benign Het
Crem A G 18: 3,295,329 (GRCm39) S80P probably damaging Het
Csnk1g3 C T 18: 54,063,390 (GRCm39) T267I probably damaging Het
Cyth1 A T 11: 118,073,077 (GRCm39) N274K possibly damaging Het
Dicer1 C T 12: 104,678,537 (GRCm39) G594S probably benign Het
Enpp1 C T 10: 24,521,180 (GRCm39) C849Y probably damaging Het
Fam193a A G 5: 34,622,979 (GRCm39) E1189G possibly damaging Het
Fermt1 C A 2: 132,759,479 (GRCm39) V426L probably benign Het
Fes A G 7: 80,028,524 (GRCm39) probably null Het
Gmeb1 C A 4: 131,953,085 (GRCm39) L560F probably damaging Het
Hace1 T C 10: 45,546,722 (GRCm39) L452P probably damaging Het
Hecw2 T A 1: 53,943,502 (GRCm39) H975L probably damaging Het
Idh2 GGTCCCAG GG 7: 79,748,077 (GRCm39) probably benign Het
Il1r2 T A 1: 40,162,370 (GRCm39) C338S probably damaging Het
Iqcn T C 8: 71,169,921 (GRCm39) I1337T probably benign Het
Kcnb1 T C 2: 167,030,204 (GRCm39) S114G probably damaging Het
Lce1c A T 3: 92,587,623 (GRCm39) T17S unknown Het
Lhfpl4 C A 6: 113,153,627 (GRCm39) L141F possibly damaging Het
Ms4a14 T C 19: 11,279,594 (GRCm39) E988G possibly damaging Het
Naip5 T C 13: 100,356,204 (GRCm39) Q1137R probably benign Het
Naip5 G T 13: 100,356,205 (GRCm39) Q1137K not run Het
Neurod1 T A 2: 79,285,290 (GRCm39) D31V probably benign Het
Neurod4 A G 10: 130,106,927 (GRCm39) C116R probably damaging Het
Nisch A G 14: 30,928,537 (GRCm39) V28A probably benign Het
Odad1 A C 7: 45,592,189 (GRCm39) Q323P probably damaging Het
Or4a72 A G 2: 89,405,449 (GRCm39) V207A probably benign Het
Or5d44 T G 2: 88,141,772 (GRCm39) M123L probably benign Het
Pabpc4l T A 3: 46,401,024 (GRCm39) R207W probably damaging Het
Pabpc4l A T 3: 46,400,687 (GRCm39) I319N probably damaging Het
Pcm1 G A 8: 41,762,568 (GRCm39) D1371N probably damaging Het
Peg10 G GGTC 6: 4,756,452 (GRCm39) probably benign Het
Plxnc1 C T 10: 94,706,867 (GRCm39) A557T probably benign Het
Prkdc T A 16: 15,466,602 (GRCm39) V58D probably damaging Het
Prpf40a A G 2: 53,046,959 (GRCm39) V259A probably benign Het
Psmd3 A T 11: 98,576,466 (GRCm39) T123S probably benign Het
Ptgr2 G T 12: 84,339,103 (GRCm39) probably benign Het
Ptprr A G 10: 115,884,141 (GRCm39) H66R probably benign Het
Rftn2 A G 1: 55,233,401 (GRCm39) probably null Het
Rsph14 T A 10: 74,865,628 (GRCm39) E70V possibly damaging Het
Slc24a5 G A 2: 124,930,111 (GRCm39) V471I probably benign Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Spag9 A T 11: 93,988,515 (GRCm39) T862S probably benign Het
Ssbp2 T A 13: 91,839,002 (GRCm39) D291E probably benign Het
Supt5 T C 7: 28,023,197 (GRCm39) K329E probably damaging Het
Syne2 G T 12: 76,014,155 (GRCm39) K3115N probably damaging Het
Tars1 A T 15: 11,392,095 (GRCm39) L239* probably null Het
Tbxa2r T C 10: 81,168,625 (GRCm39) Y105H probably benign Het
Tesk1 T A 4: 43,445,743 (GRCm39) D265E probably damaging Het
Tril T C 6: 53,795,266 (GRCm39) D652G possibly damaging Het
Tsga10 T C 1: 37,873,268 (GRCm39) R204G probably null Het
Twnk A G 19: 45,000,219 (GRCm39) D645G probably benign Het
Umodl1 A T 17: 31,217,122 (GRCm39) D1118V probably damaging Het
Unc119 T C 11: 78,238,071 (GRCm39) I83T probably benign Het
Unc80 T C 1: 66,685,574 (GRCm39) W2233R possibly damaging Het
Vmn1r45 T A 6: 89,910,416 (GRCm39) T185S possibly damaging Het
Vmn2r111 G T 17: 22,790,067 (GRCm39) T313K possibly damaging Het
Wdr4 A G 17: 31,728,806 (GRCm39) L123S probably damaging Het
Zfpm2 A G 15: 40,966,386 (GRCm39) E957G 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
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
Posted On 2019-09-13