Incidental Mutation 'R4812:Cfap251'
ID 369528
Institutional Source Beutler Lab
Gene Symbol Cfap251
Ensembl Gene ENSMUSG00000029442
Gene Name cilia and flagella associated protein 251
Synonyms 4933428F06Rik, Wdr66, 4930415N18Rik
MMRRC Submission 042431-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R4812 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 123390196-123465547 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 123425368 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 776 (V776I)
Ref Sequence ENSEMBL: ENSMUSP00000113309 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000121964] [ENSMUST00000163092] [ENSMUST00000170536]
AlphaFold E9Q743
Predicted Effect probably benign
Transcript: ENSMUST00000121964
AA Change: V776I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000113309
Gene: ENSMUSG00000029442
AA Change: V776I

DomainStartEndE-ValueType
coiled coil region 9 160 N/A INTRINSIC
coiled coil region 243 299 N/A INTRINSIC
WD40 437 478 1.58e-2 SMART
WD40 481 525 6.16e0 SMART
Blast:WD40 532 572 2e-15 BLAST
Blast:WD40 584 623 5e-17 BLAST
low complexity region 627 641 N/A INTRINSIC
WD40 643 677 7.64e1 SMART
Blast:WD40 686 742 1e-13 BLAST
WD40 745 784 8.62e-4 SMART
WD40 789 827 1.19e1 SMART
WD40 832 871 5.97e-1 SMART
WD40 880 923 1.23e2 SMART
WD40 1030 1070 1.15e0 SMART
low complexity region 1274 1285 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143629
Predicted Effect probably benign
Transcript: ENSMUST00000150155
Predicted Effect probably benign
Transcript: ENSMUST00000163092
AA Change: V279I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000126995
Gene: ENSMUSG00000029442
AA Change: V279I

DomainStartEndE-ValueType
Blast:WD40 1 28 3e-10 BLAST
Blast:WD40 35 75 2e-15 BLAST
Blast:WD40 87 126 3e-17 BLAST
low complexity region 130 144 N/A INTRINSIC
WD40 146 180 7.64e1 SMART
Blast:WD40 183 246 2e-14 BLAST
WD40 248 287 8.62e-4 SMART
WD40 292 330 1.19e1 SMART
WD40 335 374 5.97e-1 SMART
WD40 383 426 1.23e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000170536
AA Change: V337I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000129769
Gene: ENSMUSG00000029442
AA Change: V337I

DomainStartEndE-ValueType
WD40 42 86 3.18e1 SMART
Blast:WD40 93 133 1e-15 BLAST
Blast:WD40 145 184 3e-17 BLAST
low complexity region 188 202 N/A INTRINSIC
WD40 204 238 7.64e1 SMART
Blast:WD40 241 304 3e-14 BLAST
WD40 306 345 8.62e-4 SMART
WD40 350 388 1.19e1 SMART
WD40 393 432 5.97e-1 SMART
WD40 441 484 1.23e2 SMART
Blast:WD40 490 535 2e-7 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197763
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 93% (124/133)
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 appears to function in the determination of mean platelet volume (MPV), and polymorphisms in this gene have been associated with variance in MPV. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2011]
Allele List at MGI
Other mutations in this stock
Total: 128 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017G19Rik C T 3: 40,575,633 (GRCm39) noncoding transcript Het
Abca5 T C 11: 110,192,647 (GRCm39) D681G probably damaging Het
Actl11 T C 9: 107,808,329 (GRCm39) V884A probably damaging Het
Akr1c14 G A 13: 4,129,165 (GRCm39) V187M probably damaging Het
Apbb1 A T 7: 105,223,232 (GRCm39) N126K probably damaging Het
Bmt2 G T 6: 13,677,799 (GRCm39) R12S unknown Het
Btrc G A 19: 45,411,603 (GRCm39) C9Y possibly damaging Het
C5ar1 A C 7: 15,982,258 (GRCm39) probably null Het
C8a C T 4: 104,719,788 (GRCm39) probably null Het
Cabin1 A G 10: 75,482,428 (GRCm39) S2172P possibly damaging Het
Calcoco2 T C 11: 95,998,276 (GRCm39) D49G probably damaging Het
Camta1 C T 4: 151,215,999 (GRCm39) D974N probably null Het
Car6 T C 4: 150,281,872 (GRCm39) E47G probably damaging Het
Ccnd3 G A 17: 47,908,505 (GRCm39) probably null Het
Celf5 A T 10: 81,306,573 (GRCm39) V30E probably damaging Het
Cfap46 T A 7: 139,215,916 (GRCm39) D1513V probably damaging Het
Cinp T C 12: 110,846,174 (GRCm39) Y84C probably damaging Het
Cnih1 A G 14: 47,014,001 (GRCm39) I154T probably damaging Het
Col15a1 C T 4: 47,262,479 (GRCm39) P511L possibly damaging Het
Col4a4 C T 1: 82,439,874 (GRCm39) V1364M unknown Het
Cplane1 T G 15: 8,230,607 (GRCm39) probably null Het
Crtam A G 9: 40,895,621 (GRCm39) L38P probably damaging Het
Ctnna1 T A 18: 35,372,530 (GRCm39) V495D probably damaging Het
Cubn T C 2: 13,463,887 (GRCm39) Y606C probably damaging Het
Cyp4f16 C T 17: 32,765,652 (GRCm39) A345V probably null Het
Dctn1 A T 6: 83,166,919 (GRCm39) M160L probably benign Het
Dip2c T A 13: 9,687,166 (GRCm39) C366* probably null Het
Dnajc2 G A 5: 21,968,484 (GRCm39) S401L probably benign Het
Dnmt3l A G 10: 77,893,128 (GRCm39) I302V probably benign Het
Dvl2 T C 11: 69,902,119 (GRCm39) probably benign Het
Edn1 T G 13: 42,457,116 (GRCm39) S50A probably benign Het
Efhc1 A T 1: 21,060,871 (GRCm39) R636W probably damaging Het
Epg5 T A 18: 78,022,399 (GRCm39) H1047Q probably benign Het
Etv1 T G 12: 38,911,287 (GRCm39) V371G probably damaging Het
Fap T A 2: 62,349,365 (GRCm39) I475F probably damaging Het
Fbxw15 T C 9: 109,388,990 (GRCm39) I140V probably benign Het
Fer A G 17: 64,241,292 (GRCm39) T311A probably benign Het
Fh1 A G 1: 175,429,025 (GRCm39) W497R probably damaging Het
Flot2 T A 11: 77,944,191 (GRCm39) L45Q probably damaging Het
Flt1 C A 5: 147,620,749 (GRCm39) A132S probably benign Het
Fmnl1 T C 11: 103,089,390 (GRCm39) probably benign Het
Garin5b G A 7: 4,762,071 (GRCm39) T295M probably damaging Het
Ggta1 C T 2: 35,292,735 (GRCm39) V203I probably benign Het
Gm19345 C T 7: 19,591,798 (GRCm39) V204M probably damaging Het
Gm4204 T A 1: 135,160,227 (GRCm39) noncoding transcript Het
Gm6124 C G 7: 38,872,319 (GRCm39) noncoding transcript Het
Gprin3 T A 6: 59,330,350 (GRCm39) K652N possibly damaging Het
Gucy1b2 T C 14: 62,653,346 (GRCm39) probably null Het
Hace1 C A 10: 45,562,699 (GRCm39) A738E probably benign Het
Hectd1 C T 12: 51,874,134 (GRCm39) probably null Het
Hnrnpdl T C 5: 100,184,331 (GRCm39) probably benign Het
Hyou1 T C 9: 44,298,418 (GRCm39) probably benign Het
Ifi44l G A 3: 151,465,336 (GRCm39) A138V probably benign Het
Igkv16-104 A T 6: 68,402,829 (GRCm39) I41F possibly damaging Het
Ints7 T A 1: 191,326,542 (GRCm39) D171E possibly damaging Het
Irag2 G A 6: 145,093,737 (GRCm39) G120S probably damaging Het
Kmt2a A T 9: 44,742,651 (GRCm39) probably benign Het
Kmt2e T C 5: 23,707,585 (GRCm39) V1716A possibly damaging Het
Krtap5-1 G A 7: 141,850,628 (GRCm39) S60F unknown Het
Lama4 G A 10: 38,948,765 (GRCm39) V843I probably benign Het
Laptm5 A G 4: 130,640,749 (GRCm39) probably null Het
Lbhd1 G A 19: 8,866,538 (GRCm39) A193T probably damaging Het
Lce3f C T 3: 92,900,247 (GRCm39) P23S unknown Het
Mecom A C 3: 30,194,517 (GRCm39) M1R probably null Het
Mindy4 A C 6: 55,256,088 (GRCm39) T531P possibly damaging Het
Mrpl3 A G 9: 104,951,023 (GRCm39) N263S probably damaging Het
Myo18b T C 5: 112,957,584 (GRCm39) K1460E possibly damaging Het
Myof A G 19: 37,905,007 (GRCm39) Y852H probably damaging Het
Nefl T G 14: 68,321,734 (GRCm39) V108G probably damaging Het
Nid1 T A 13: 13,681,053 (GRCm39) L1061* probably null Het
Nim1k T A 13: 120,173,920 (GRCm39) M325L probably benign Het
Nlrp1c-ps T C 11: 71,143,131 (GRCm39) noncoding transcript Het
Npsr1 C T 9: 24,201,252 (GRCm39) T59I probably damaging Het
Nr2c1 A G 10: 94,024,114 (GRCm39) T440A probably benign Het
Nup160 C T 2: 90,556,035 (GRCm39) T1245I probably damaging Het
Nup88 T A 11: 70,856,552 (GRCm39) T194S probably damaging Het
Oas3 A G 5: 120,899,212 (GRCm39) probably benign Het
Odad2 T G 18: 7,288,634 (GRCm39) T78P possibly damaging Het
Opn1sw A T 6: 29,378,038 (GRCm39) M252K probably damaging Het
Oprm1 T G 10: 6,782,698 (GRCm39) probably benign Het
Or10ag59 A G 2: 87,406,087 (GRCm39) I220V probably benign Het
Or2y1g T A 11: 49,171,284 (GRCm39) I103K possibly damaging Het
Or4x13 T A 2: 90,231,440 (GRCm39) M145K probably benign Het
Pcdha2 T A 18: 37,072,861 (GRCm39) V164E probably benign Het
Pclo A G 5: 14,590,039 (GRCm39) T780A unknown Het
Pcnx2 T A 8: 126,592,678 (GRCm39) Q762L probably benign Het
Pcyt2 A T 11: 120,505,251 (GRCm39) probably benign Het
Pdpr A G 8: 111,843,349 (GRCm39) N294D probably benign Het
Perm1 T A 4: 156,303,193 (GRCm39) V579E possibly damaging Het
Pgk2 T A 17: 40,518,281 (GRCm39) K382N possibly damaging Het
Plcb4 T A 2: 135,849,801 (GRCm39) L205Q probably damaging Het
Plekha3 C T 2: 76,516,975 (GRCm39) T109I probably damaging Het
Pnn T A 12: 59,118,404 (GRCm39) V329E possibly damaging Het
Ptpn13 A G 5: 103,671,481 (GRCm39) I469M probably benign Het
Rapgef3 A G 15: 97,651,684 (GRCm39) V603A probably benign Het
Rbms1 C T 2: 60,623,113 (GRCm39) V75I possibly damaging Het
Rbp3 T A 14: 33,676,731 (GRCm39) D226E probably damaging Het
Robo2 A T 16: 73,713,176 (GRCm39) N1189K probably benign Het
Rragd A G 4: 33,018,766 (GRCm39) T270A probably benign Het
Rxfp1 T A 3: 79,557,889 (GRCm39) T530S probably benign Het
Ryr3 T C 2: 112,742,581 (GRCm39) E479G probably damaging Het
Scd2 A T 19: 44,289,841 (GRCm39) I279F probably damaging Het
Sh3d19 A T 3: 86,031,074 (GRCm39) D746V probably damaging Het
Shroom4 A G X: 6,536,180 (GRCm39) K1133E probably benign Het
Sirpb1c A G 3: 15,887,386 (GRCm39) V151A probably damaging Het
Slc26a2 A T 18: 61,335,093 (GRCm39) I120N probably damaging Het
Slco1a1 A G 6: 141,864,319 (GRCm39) S494P probably damaging Het
Srebf2 A T 15: 82,088,026 (GRCm39) T1061S probably damaging Het
Sspo T C 6: 48,467,444 (GRCm39) L4202P probably benign Het
Synj2 G A 17: 6,060,939 (GRCm39) G215E probably damaging Het
Tbc1d19 T C 5: 53,967,148 (GRCm39) V16A probably damaging Het
Tektl1 T C 10: 78,585,050 (GRCm39) H262R probably benign Het
Tiparp T C 3: 65,460,190 (GRCm39) I495T possibly damaging Het
Tipin A G 9: 64,211,694 (GRCm39) H260R probably benign Het
Tle1 A G 4: 72,063,591 (GRCm39) S221P probably damaging Het
Tmem94 T A 11: 115,686,938 (GRCm39) L1101* probably null Het
Trim43b C T 9: 88,973,533 (GRCm39) D67N probably benign Het
Ubn2 T A 6: 38,440,661 (GRCm39) C178S probably benign Het
Vmn1r54 T C 6: 90,246,307 (GRCm39) F74L probably benign Het
Vmn2r24 A G 6: 123,756,144 (GRCm39) H72R probably benign Het
Wnk1 C T 6: 119,929,732 (GRCm39) V850I probably benign Het
Zan T G 5: 137,454,547 (GRCm39) Y1419S unknown Het
Zbtb14 T A 17: 69,694,577 (GRCm39) Y92N probably damaging Het
Zfand5 A G 19: 21,255,101 (GRCm39) K116E probably benign Het
Zfhx3 A G 8: 109,674,593 (GRCm39) E1881G possibly damaging Het
Zfp280b A G 10: 75,874,924 (GRCm39) K268E probably benign Het
Zfp541 A G 7: 15,813,035 (GRCm39) I563V probably benign Het
Zfy2 T A Y: 2,106,334 (GRCm39) I767L probably benign Het
Other mutations in Cfap251
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00487:Cfap251 APN 5 123,412,240 (GRCm39) missense probably damaging 1.00
IGL01090:Cfap251 APN 5 123,418,052 (GRCm39) splice site probably benign
IGL01387:Cfap251 APN 5 123,421,609 (GRCm39) missense probably damaging 1.00
IGL01432:Cfap251 APN 5 123,418,015 (GRCm39) missense possibly damaging 0.88
IGL01642:Cfap251 APN 5 123,426,761 (GRCm39) missense possibly damaging 0.77
IGL01720:Cfap251 APN 5 123,460,557 (GRCm39) missense probably benign 0.07
IGL02104:Cfap251 APN 5 123,440,761 (GRCm39) nonsense probably null
IGL02160:Cfap251 APN 5 123,394,081 (GRCm39) missense unknown
IGL02238:Cfap251 APN 5 123,440,486 (GRCm39) missense probably damaging 1.00
IGL02820:Cfap251 APN 5 123,392,699 (GRCm39) unclassified probably benign
IGL03183:Cfap251 APN 5 123,392,682 (GRCm39) unclassified probably benign
R0078:Cfap251 UTSW 5 123,436,633 (GRCm39) missense probably benign 0.04
R0207:Cfap251 UTSW 5 123,421,510 (GRCm39) missense probably damaging 0.98
R0411:Cfap251 UTSW 5 123,428,117 (GRCm39) missense probably damaging 1.00
R0414:Cfap251 UTSW 5 123,425,476 (GRCm39) splice site probably null
R0722:Cfap251 UTSW 5 123,394,248 (GRCm39) missense probably damaging 1.00
R1169:Cfap251 UTSW 5 123,392,673 (GRCm39) small deletion probably benign
R1527:Cfap251 UTSW 5 123,425,408 (GRCm39) missense probably benign 0.19
R1924:Cfap251 UTSW 5 123,440,802 (GRCm39) missense possibly damaging 0.67
R2022:Cfap251 UTSW 5 123,411,853 (GRCm39) missense probably benign 0.29
R2110:Cfap251 UTSW 5 123,392,438 (GRCm39) unclassified probably benign
R2112:Cfap251 UTSW 5 123,392,438 (GRCm39) unclassified probably benign
R2147:Cfap251 UTSW 5 123,394,254 (GRCm39) missense probably benign 0.01
R2258:Cfap251 UTSW 5 123,421,411 (GRCm39) splice site probably null
R2407:Cfap251 UTSW 5 123,428,032 (GRCm39) missense probably benign 0.11
R2418:Cfap251 UTSW 5 123,392,331 (GRCm39) unclassified probably benign
R2497:Cfap251 UTSW 5 123,421,432 (GRCm39) missense probably damaging 1.00
R2509:Cfap251 UTSW 5 123,394,169 (GRCm39) missense probably benign 0.00
R3437:Cfap251 UTSW 5 123,392,435 (GRCm39) unclassified probably benign
R3730:Cfap251 UTSW 5 123,464,631 (GRCm39) missense possibly damaging 0.70
R3800:Cfap251 UTSW 5 123,392,784 (GRCm39) unclassified probably benign
R4018:Cfap251 UTSW 5 123,460,517 (GRCm39) missense probably benign 0.04
R4181:Cfap251 UTSW 5 123,431,873 (GRCm39) missense probably benign 0.33
R4302:Cfap251 UTSW 5 123,431,873 (GRCm39) missense probably benign 0.33
R4640:Cfap251 UTSW 5 123,440,495 (GRCm39) missense probably benign 0.00
R4701:Cfap251 UTSW 5 123,460,676 (GRCm39) missense probably benign 0.00
R4799:Cfap251 UTSW 5 123,440,835 (GRCm39) missense probably benign 0.04
R4922:Cfap251 UTSW 5 123,394,116 (GRCm39) missense probably benign 0.00
R5123:Cfap251 UTSW 5 123,411,696 (GRCm39) start gained probably benign
R5314:Cfap251 UTSW 5 123,460,626 (GRCm39) missense probably benign 0.01
R5445:Cfap251 UTSW 5 123,425,240 (GRCm39) missense probably damaging 1.00
R5458:Cfap251 UTSW 5 123,392,508 (GRCm39) unclassified probably benign
R5462:Cfap251 UTSW 5 123,436,695 (GRCm39) critical splice donor site probably null
R5514:Cfap251 UTSW 5 123,425,829 (GRCm39) critical splice donor site probably null
R5600:Cfap251 UTSW 5 123,426,761 (GRCm39) missense possibly damaging 0.77
R5635:Cfap251 UTSW 5 123,460,635 (GRCm39) missense probably benign 0.25
R5767:Cfap251 UTSW 5 123,436,584 (GRCm39) missense probably benign 0.01
R5943:Cfap251 UTSW 5 123,424,420 (GRCm39) missense probably benign 0.13
R6000:Cfap251 UTSW 5 123,392,435 (GRCm39) unclassified probably benign
R6030:Cfap251 UTSW 5 123,412,267 (GRCm39) missense probably damaging 0.97
R6030:Cfap251 UTSW 5 123,412,267 (GRCm39) missense probably damaging 0.97
R6293:Cfap251 UTSW 5 123,460,511 (GRCm39) missense probably damaging 1.00
R6354:Cfap251 UTSW 5 123,440,818 (GRCm39) missense probably damaging 0.99
R6356:Cfap251 UTSW 5 123,392,729 (GRCm39) unclassified probably benign
R6427:Cfap251 UTSW 5 123,464,596 (GRCm39) missense probably damaging 1.00
R6896:Cfap251 UTSW 5 123,416,421 (GRCm39) missense possibly damaging 0.81
R6909:Cfap251 UTSW 5 123,425,815 (GRCm39) missense probably damaging 1.00
R7503:Cfap251 UTSW 5 123,435,521 (GRCm39) nonsense probably null
R7707:Cfap251 UTSW 5 123,391,950 (GRCm39) missense probably benign 0.00
R7715:Cfap251 UTSW 5 123,400,197 (GRCm39) missense probably damaging 1.00
R7809:Cfap251 UTSW 5 123,402,894 (GRCm39) missense probably damaging 1.00
R7819:Cfap251 UTSW 5 123,392,322 (GRCm39) unclassified probably benign
R7842:Cfap251 UTSW 5 123,392,487 (GRCm39) missense unknown
R7898:Cfap251 UTSW 5 123,460,517 (GRCm39) missense probably damaging 0.99
R7967:Cfap251 UTSW 5 123,421,579 (GRCm39) missense possibly damaging 0.89
R8004:Cfap251 UTSW 5 123,392,513 (GRCm39) missense unknown
R8068:Cfap251 UTSW 5 123,394,229 (GRCm39) missense not run
R8141:Cfap251 UTSW 5 123,424,493 (GRCm39) missense possibly damaging 0.83
R8222:Cfap251 UTSW 5 123,440,486 (GRCm39) missense probably damaging 1.00
R8242:Cfap251 UTSW 5 123,411,914 (GRCm39) missense possibly damaging 0.89
R8303:Cfap251 UTSW 5 123,460,650 (GRCm39) missense probably damaging 0.99
R8323:Cfap251 UTSW 5 123,435,588 (GRCm39) missense probably benign 0.16
R8773:Cfap251 UTSW 5 123,411,913 (GRCm39) missense probably benign 0.12
R8869:Cfap251 UTSW 5 123,460,505 (GRCm39) missense possibly damaging 0.48
R8881:Cfap251 UTSW 5 123,462,438 (GRCm39) missense probably damaging 1.00
R8921:Cfap251 UTSW 5 123,424,481 (GRCm39) missense possibly damaging 0.71
R9099:Cfap251 UTSW 5 123,418,082 (GRCm39) intron probably benign
R9236:Cfap251 UTSW 5 123,428,125 (GRCm39) missense probably damaging 1.00
R9385:Cfap251 UTSW 5 123,426,878 (GRCm39) missense probably damaging 1.00
R9627:Cfap251 UTSW 5 123,460,557 (GRCm39) missense probably benign 0.07
R9762:Cfap251 UTSW 5 123,460,533 (GRCm39) missense probably damaging 1.00
RF007:Cfap251 UTSW 5 123,392,317 (GRCm39) small insertion probably benign
RF010:Cfap251 UTSW 5 123,412,224 (GRCm39) critical splice acceptor site probably benign
RF015:Cfap251 UTSW 5 123,412,224 (GRCm39) critical splice acceptor site probably benign
RF015:Cfap251 UTSW 5 123,392,305 (GRCm39) small insertion probably benign
RF017:Cfap251 UTSW 5 123,391,953 (GRCm39) small insertion probably benign
RF024:Cfap251 UTSW 5 123,391,952 (GRCm39) small insertion probably benign
RF024:Cfap251 UTSW 5 123,391,951 (GRCm39) small insertion probably benign
RF024:Cfap251 UTSW 5 123,391,946 (GRCm39) small insertion probably benign
X0062:Cfap251 UTSW 5 123,412,300 (GRCm39) missense probably benign 0.29
X0066:Cfap251 UTSW 5 123,426,710 (GRCm39) missense probably benign 0.05
Predicted Primers
Posted On 2016-02-04