Incidental Mutation 'R2112:Cfap251'
ID 232653
Institutional Source Beutler Lab
Gene Symbol Cfap251
Ensembl Gene ENSMUSG00000029442
Gene Name cilia and flagella associated protein 251
Synonyms 4933428F06Rik, Wdr66, 4930415N18Rik
MMRRC Submission 040116-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R2112 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 123390196-123465547 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to A at 123392438 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000098295 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100729] [ENSMUST00000121964]
AlphaFold E9Q743
Predicted Effect probably benign
Transcript: ENSMUST00000100729
SMART Domains Protein: ENSMUSP00000098295
Gene: ENSMUSG00000029440

DomainStartEndE-ValueType
low complexity region 9 19 N/A INTRINSIC
Blast:PDZ 20 58 7e-7 BLAST
PDB:3WHL|H 23 99 2e-12 PDB
PDZ 121 195 5.02e-6 SMART
Predicted Effect unknown
Transcript: ENSMUST00000121964
AA Change: E191K
SMART Domains Protein: ENSMUSP00000113309
Gene: ENSMUSG00000029442
AA Change: E191K

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: ENSMUST00000148282
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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 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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1b A G 5: 121,638,777 (GRCm39) probably benign Het
Adprhl1 A G 8: 13,298,694 (GRCm39) Y79H probably damaging Het
Ambra1 T A 2: 91,706,132 (GRCm39) W746R probably damaging Het
Ankhd1 A T 18: 36,774,679 (GRCm39) K1420I probably damaging Het
Ap1b1 T C 11: 4,965,613 (GRCm39) F51L probably damaging Het
Arhgap24 A C 5: 103,040,366 (GRCm39) R434S probably damaging Het
Arhgap29 T C 3: 121,805,210 (GRCm39) L525P probably benign Het
Arpc1b T C 5: 145,060,579 (GRCm39) Y124H probably damaging Het
Arr3 T A X: 99,658,247 (GRCm39) F269L possibly damaging Het
Atp11b G T 3: 35,891,677 (GRCm39) V830F probably damaging Het
Ccdc71l T A 12: 32,429,229 (GRCm39) F83I probably damaging Het
Cdh23 G T 10: 60,141,362 (GRCm39) F3127L probably damaging Het
Cldn15 T A 5: 136,997,016 (GRCm39) M19K possibly damaging Het
Cog4 A G 8: 111,585,214 (GRCm39) Y292C possibly damaging Het
Col12a1 A G 9: 79,551,181 (GRCm39) V2145A possibly damaging Het
Col5a3 T C 9: 20,721,073 (GRCm39) I110V unknown Het
Cps1 T A 1: 67,216,139 (GRCm39) D821E probably benign Het
Crnkl1 A T 2: 145,772,617 (GRCm39) Y153* probably null Het
Dock10 T A 1: 80,483,359 (GRCm39) K2082M probably damaging Het
Dock10 T C 1: 80,483,360 (GRCm39) K2083E probably damaging Het
Dst T C 1: 34,208,259 (GRCm39) S737P probably damaging Het
Dthd1 T C 5: 62,979,251 (GRCm39) Y304H probably damaging Het
Dthd1 T C 5: 63,000,222 (GRCm39) S515P probably damaging Het
Etf1 A T 18: 35,042,154 (GRCm39) probably null Het
Fmnl2 A G 2: 52,995,549 (GRCm39) E424G probably damaging Het
Galt A G 4: 41,758,245 (GRCm39) T337A probably benign Het
Gbp4 A G 5: 105,283,042 (GRCm39) L76P possibly damaging Het
Gcfc2 C A 6: 81,900,759 (GRCm39) D24E probably benign Het
Gigyf2 A G 1: 87,368,452 (GRCm39) H1044R probably damaging Het
Glg1 T C 8: 111,919,178 (GRCm39) D315G probably damaging Het
Gm4787 C T 12: 81,424,607 (GRCm39) C517Y probably damaging Het
Gnl3l A G X: 149,780,290 (GRCm39) S217P probably damaging Het
Gpr37 T C 6: 25,669,380 (GRCm39) Y488C possibly damaging Het
Hap1 T C 11: 100,244,825 (GRCm39) D240G probably benign Het
Hhla1 C G 15: 65,808,232 (GRCm39) W271S probably benign Het
Hmgxb3 T C 18: 61,288,458 (GRCm39) R470G possibly damaging Het
Inpp5a A G 7: 139,154,877 (GRCm39) D332G probably damaging Het
Insr A G 8: 3,219,748 (GRCm39) S925P probably benign Het
Isoc2b T A 7: 4,852,474 (GRCm39) D171V probably damaging Het
Kif20b T C 19: 34,909,132 (GRCm39) I223T probably benign Het
Krt6b T C 15: 101,586,999 (GRCm39) T258A possibly damaging Het
Lipo4 G A 19: 33,488,926 (GRCm39) P219L probably benign Het
Luc7l T C 17: 26,474,101 (GRCm39) probably null Het
Madd T C 2: 91,007,321 (GRCm39) K264E possibly damaging Het
Mcf2l A T 8: 13,051,867 (GRCm39) K433N probably damaging Het
Mob3b A T 4: 35,083,795 (GRCm39) N131K probably damaging Het
Mtus1 G T 8: 41,475,608 (GRCm39) P819T probably damaging Het
Myo15a T C 11: 60,384,994 (GRCm39) F1699L probably damaging Het
Nav1 C T 1: 135,376,742 (GRCm39) R1694Q probably damaging Het
Neb G C 2: 52,218,776 (GRCm39) T78S probably damaging Het
Nek2 T C 1: 191,559,320 (GRCm39) V275A probably benign Het
Nfatc1 A T 18: 80,678,879 (GRCm39) C836* probably null Het
Nos1 T C 5: 118,074,636 (GRCm39) V1060A probably benign Het
Notch3 T A 17: 32,363,584 (GRCm39) I1160F probably benign Het
Nox4 T C 7: 87,021,216 (GRCm39) L476P probably damaging Het
Npc1 A T 18: 12,346,529 (GRCm39) N222K possibly damaging Het
Nrn1l C A 8: 106,621,378 (GRCm39) H109Q possibly damaging Het
Or4c11 T C 2: 88,695,545 (GRCm39) S199P possibly damaging Het
Or4k15 G T 14: 50,364,080 (GRCm39) L15F probably damaging Het
Or6d13 T C 6: 116,517,611 (GRCm39) Y66H possibly damaging Het
Or7a41 T C 10: 78,871,248 (GRCm39) L206P probably damaging Het
Or8g27 T C 9: 39,129,075 (GRCm39) Y141H probably benign Het
Or8g33 C A 9: 39,337,966 (GRCm39) V134L probably benign Het
Pcnt T C 10: 76,256,360 (GRCm39) K627E probably damaging Het
Plch1 T A 3: 63,630,227 (GRCm39) T514S probably damaging Het
Ppargc1b G A 18: 61,444,321 (GRCm39) P297S probably benign Het
Ppig A G 2: 69,580,451 (GRCm39) T662A unknown Het
Prdm2 A C 4: 142,858,506 (GRCm39) S1595A probably benign Het
Ptpn5 T A 7: 46,732,890 (GRCm39) T318S probably benign Het
Ralgps2 A G 1: 156,660,278 (GRCm39) Y265H probably damaging Het
Seh1l T C 18: 67,920,249 (GRCm39) I182T probably damaging Het
Slc12a6 T C 2: 112,186,830 (GRCm39) I943T probably damaging Het
Slc5a5 A T 8: 71,342,395 (GRCm39) probably null Het
Sparcl1 T A 5: 104,236,289 (GRCm39) Q488L probably damaging Het
Sphkap T G 1: 83,253,602 (GRCm39) K1382N probably benign Het
Sybu T C 15: 44,536,731 (GRCm39) S532G probably benign Het
Syde2 G A 3: 145,704,241 (GRCm39) G131S possibly damaging Het
Taok1 C T 11: 77,462,472 (GRCm39) V206I probably benign Het
Tas1r2 G T 4: 139,382,666 (GRCm39) M101I probably benign Het
Trpc6 C T 9: 8,656,613 (GRCm39) T680I probably damaging Het
Trub1 T C 19: 57,473,646 (GRCm39) probably null Het
Tspan1 G T 4: 116,020,885 (GRCm39) probably null Het
Ttc28 G A 5: 111,424,139 (GRCm39) E1438K probably damaging Het
Ubr3 A G 2: 69,808,136 (GRCm39) T1206A possibly damaging Het
Ulbp3 C T 10: 3,076,459 (GRCm39) noncoding transcript Het
Usp40 A G 1: 87,877,936 (GRCm39) I1117T probably benign Het
Usp43 G T 11: 67,812,536 (GRCm39) N113K probably damaging Het
Vcan T A 13: 89,841,422 (GRCm39) D414V probably damaging Het
Vmn1r202 T A 13: 22,685,904 (GRCm39) Y171F possibly damaging Het
Zfp142 A G 1: 74,612,795 (GRCm39) S451P probably damaging Het
Zfp516 A G 18: 82,975,536 (GRCm39) D578G probably damaging Het
Zfp90 G A 8: 107,152,120 (GRCm39) C611Y probably damaging Het
Zfp954 A G 7: 7,118,609 (GRCm39) C312R probably damaging Het
Zmym3 A T X: 100,450,993 (GRCm39) V1208D probably damaging 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
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
R4812:Cfap251 UTSW 5 123,425,368 (GRCm39) missense probably benign 0.01
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 2014-09-18