Incidental Mutation 'IGL01642:Cfap251'
ID 93690
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cfap251
Ensembl Gene ENSMUSG00000029442
Gene Name cilia and flagella associated protein 251
Synonyms 4933428F06Rik, Wdr66, 4930415N18Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # IGL01642
Quality Score
Status
Chromosome 5
Chromosomal Location 123390196-123465547 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 123426761 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 383 (V383A)
Ref Sequence ENSEMBL: ENSMUSP00000126995 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000121964] [ENSMUST00000163092] [ENSMUST00000170536]
AlphaFold E9Q743
Predicted Effect probably benign
Transcript: ENSMUST00000121964
AA Change: V880A

PolyPhen 2 Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000113309
Gene: ENSMUSG00000029442
AA Change: V880A

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: ENSMUST00000133476
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143629
Predicted Effect probably benign
Transcript: ENSMUST00000150155
Predicted Effect possibly damaging
Transcript: ENSMUST00000163092
AA Change: V383A

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000126995
Gene: ENSMUSG00000029442
AA Change: V383A

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: V441A

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000129769
Gene: ENSMUSG00000029442
AA Change: V441A

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
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aanat A G 11: 116,486,514 (GRCm39) T18A possibly damaging Het
Abat A T 16: 8,418,783 (GRCm39) I126F possibly damaging Het
Adcy6 G A 15: 98,492,390 (GRCm39) A958V possibly damaging Het
Ago2 T C 15: 72,995,239 (GRCm39) I447V probably benign Het
Arid1a A G 4: 133,409,155 (GRCm39) V1784A unknown Het
Atp1b1 A G 1: 164,285,330 (GRCm39) F33L probably benign Het
Bpnt1 G A 1: 185,086,238 (GRCm39) V198I probably benign Het
Cemip2 T A 19: 21,801,265 (GRCm39) I794N probably damaging Het
Cgas G A 9: 78,344,680 (GRCm39) P247L probably damaging Het
Clip3 G A 7: 29,998,287 (GRCm39) M244I probably benign Het
Clip3 A T 7: 29,996,494 (GRCm39) probably benign Het
Cyp2a22 A T 7: 26,638,184 (GRCm39) N107K possibly damaging Het
Cyp2c23 A T 19: 43,993,995 (GRCm39) L457Q probably damaging Het
Dbr1 A G 9: 99,458,031 (GRCm39) Y17C probably damaging Het
Drc7 G A 8: 95,785,767 (GRCm39) V208I probably benign Het
Dst T A 1: 34,228,470 (GRCm39) L2021Q probably damaging Het
E2f4 C A 8: 106,027,968 (GRCm39) P299T probably damaging Het
Eef1b2 T C 1: 63,216,990 (GRCm39) L53P probably damaging Het
Enpp3 T C 10: 24,674,167 (GRCm39) T378A probably damaging Het
Eps15 A G 4: 109,223,670 (GRCm39) N302S probably benign Het
Esrrg G A 1: 187,943,112 (GRCm39) V362M probably benign Het
Gcc2 T A 10: 58,116,434 (GRCm39) N1014K probably benign Het
Gm3099 T A 14: 15,346,476 (GRCm39) M114K possibly damaging Het
Gnptab C T 10: 88,271,994 (GRCm39) T928I possibly damaging Het
Gpd2 A T 2: 57,158,083 (GRCm39) R31* probably null Het
Impdh1 T C 6: 29,207,165 (GRCm39) T60A possibly damaging Het
Kcnab3 A G 11: 69,221,256 (GRCm39) E191G probably benign Het
Kcnh5 A G 12: 75,011,943 (GRCm39) S659P probably damaging Het
Kl T C 5: 150,904,334 (GRCm39) I362T possibly damaging Het
Kpna4 A G 3: 68,993,117 (GRCm39) V414A probably damaging Het
Magi1 G A 6: 93,663,605 (GRCm39) P1111S possibly damaging Het
Myo18a A G 11: 77,755,558 (GRCm39) D1965G probably benign Het
Nadsyn1 G A 7: 143,351,615 (GRCm39) P673S probably damaging Het
Naip2 A G 13: 100,297,445 (GRCm39) S864P probably damaging Het
Or10ak16 A G 4: 118,750,658 (GRCm39) Y126C probably damaging Het
Or2d2b A T 7: 106,706,029 (GRCm39) I13N possibly damaging Het
Or2f1 G T 6: 42,721,486 (GRCm39) V172L probably benign Het
Paics T A 5: 77,109,357 (GRCm39) probably benign Het
Papss1 G T 3: 131,288,996 (GRCm39) probably benign Het
Pax3 A G 1: 78,173,300 (GRCm39) probably null Het
Pgbd5 T G 8: 125,110,941 (GRCm39) Q159P probably benign Het
Pkd1 A G 17: 24,800,266 (GRCm39) Y3009C probably damaging Het
Pla2g4d T C 2: 120,111,117 (GRCm39) T161A probably damaging Het
Podxl2 T A 6: 88,820,529 (GRCm39) Y521F probably damaging Het
Pramel34 A G 5: 93,784,154 (GRCm39) Y437H possibly damaging Het
Prmt2 C T 10: 76,058,327 (GRCm39) G161S probably damaging Het
Rft1 C T 14: 30,398,825 (GRCm39) T265I probably damaging Het
Rims2 T A 15: 39,321,192 (GRCm39) L736M probably damaging Het
Slf1 C T 13: 77,198,034 (GRCm39) A747T probably benign Het
Snx2 A G 18: 53,349,519 (GRCm39) K427E probably damaging Het
Tmem131l A T 3: 83,845,357 (GRCm39) D424E possibly damaging Het
Tnxb A G 17: 34,937,488 (GRCm39) T3826A probably damaging Het
Tpp2 T C 1: 43,993,813 (GRCm39) Y233H probably damaging Het
Ubl4b C A 3: 107,462,147 (GRCm39) E38* probably null Het
Usp5 A T 6: 124,797,416 (GRCm39) I486N probably damaging Het
Vmn1r193 A C 13: 22,403,794 (GRCm39) L66R probably damaging Het
Vps13b T C 15: 35,792,218 (GRCm39) I2162T probably benign Het
Wipf2 T C 11: 98,781,650 (GRCm39) V63A probably benign Het
Zfp735 G T 11: 73,601,305 (GRCm39) C83F possibly damaging Het
Zfyve26 T C 12: 79,308,348 (GRCm39) probably null 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
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
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
Posted On 2013-12-09