Incidental Mutation 'R0078:Cfap251'
ID 19535
Institutional Source Beutler Lab
Gene Symbol Cfap251
Ensembl Gene ENSMUSG00000029442
Gene Name cilia and flagella associated protein 251
Synonyms 4933428F06Rik, Wdr66, 4930415N18Rik
MMRRC Submission 038365-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R0078 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 123390196-123465547 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 123436633 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 1054 (R1054H)
Ref Sequence ENSEMBL: ENSMUSP00000113309 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069311] [ENSMUST00000121964] [ENSMUST00000170536] [ENSMUST00000163092]
AlphaFold E9Q743
Predicted Effect probably benign
Transcript: ENSMUST00000069311
AA Change: R80H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000069782
Gene: ENSMUSG00000029442
AA Change: R80H

DomainStartEndE-ValueType
Blast:WD40 54 95 3e-24 BLAST
SCOP:d1exra_ 157 267 3e-4 SMART
low complexity region 300 311 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121964
AA Change: R1054H

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000113309
Gene: ENSMUSG00000029442
AA Change: R1054H

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: ENSMUST00000125979
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133476
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143629
Predicted Effect probably benign
Transcript: ENSMUST00000150155
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197763
Predicted Effect probably benign
Transcript: ENSMUST00000170536
SMART Domains Protein: ENSMUSP00000129769
Gene: ENSMUSG00000029442

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 probably benign
Transcript: ENSMUST00000163092
SMART Domains Protein: ENSMUSP00000126995
Gene: ENSMUSG00000029442

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 95.1%
  • 20x: 89.2%
Validation Efficiency 81% (203/250)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T A 12: 118,891,129 (GRCm39) Q456L probably benign Het
Abcf1 A G 17: 36,268,954 (GRCm39) probably benign Het
Adamts7 A T 9: 90,061,464 (GRCm39) S357C probably damaging Het
Ankrd26 A G 6: 118,512,030 (GRCm39) probably benign Het
Asb17 T A 3: 153,550,301 (GRCm39) V111E probably damaging Het
C1qtnf4 C A 2: 90,719,893 (GRCm39) N55K probably damaging Het
Cacng5 G T 11: 107,768,259 (GRCm39) D249E probably benign Het
Camkk2 C A 5: 122,895,622 (GRCm39) probably null Het
Ccdc27 T G 4: 154,120,195 (GRCm39) probably benign Het
Cngb1 T A 8: 95,991,173 (GRCm39) probably null Het
Col7a1 A G 9: 108,803,981 (GRCm39) probably benign Het
Corin T A 5: 72,611,816 (GRCm39) D148V possibly damaging Het
Cstdc1 T A 2: 148,627,745 (GRCm39) *131K probably null Het
Defb26 A C 2: 152,349,988 (GRCm39) D97E possibly damaging Het
Dgkb A G 12: 38,186,540 (GRCm39) N237D probably benign Het
Dsp A G 13: 38,379,993 (GRCm39) N1647S probably benign Het
Dtna G A 18: 23,754,499 (GRCm39) A438T probably damaging Het
Erbb3 G T 10: 128,419,310 (GRCm39) F219L probably damaging Het
EU599041 G A 7: 42,875,275 (GRCm39) noncoding transcript Het
Fat1 A G 8: 45,406,336 (GRCm39) N1029S probably damaging Het
Fat4 T C 3: 38,943,080 (GRCm39) S658P probably benign Het
Fgfr2 C T 7: 129,802,805 (GRCm39) D168N possibly damaging Het
Fstl5 T A 3: 76,566,952 (GRCm39) probably benign Het
Glmn C T 5: 107,705,836 (GRCm39) V451I probably benign Het
Gm9938 T A 19: 23,701,988 (GRCm39) probably benign Het
Gpat2 T C 2: 127,270,169 (GRCm39) S61P probably damaging Het
Gpr22 T A 12: 31,761,640 (GRCm39) M6L probably benign Het
Grm5 T C 7: 87,724,185 (GRCm39) L825P probably damaging Het
Gstz1 A T 12: 87,206,477 (GRCm39) I66F probably benign Het
H2-T22 A G 17: 36,351,501 (GRCm39) V243A probably damaging Het
H2-T5 A T 17: 36,476,353 (GRCm39) S304T possibly damaging Het
Hivep1 C T 13: 42,309,517 (GRCm39) L586F probably damaging Het
Hmcn2 T G 2: 31,278,356 (GRCm39) L1686R probably damaging Het
Ice1 T C 13: 70,751,467 (GRCm39) R1540G probably damaging Het
Igha T A 12: 113,223,547 (GRCm39) probably benign Het
Kif3a C A 11: 53,469,812 (GRCm39) T141K probably benign Het
Knl1 G A 2: 118,900,373 (GRCm39) M691I probably benign Het
L3mbtl1 T C 2: 162,789,146 (GRCm39) V13A probably benign Het
Lamc1 T A 1: 153,104,936 (GRCm39) N1282I probably damaging Het
Lemd2 G T 17: 27,422,702 (GRCm39) L231I probably benign Het
Lrrk2 G A 15: 91,618,212 (GRCm39) V904M probably benign Het
Lyzl6 C T 11: 103,524,795 (GRCm39) S103N probably benign Het
Macf1 T A 4: 123,367,661 (GRCm39) R2367W probably damaging Het
Mapk3 T C 7: 126,358,977 (GRCm39) Y54H probably damaging Het
Mlh3 A T 12: 85,315,592 (GRCm39) V198D probably damaging Het
Myocd T C 11: 65,078,290 (GRCm39) S374G possibly damaging Het
Ngef T C 1: 87,468,387 (GRCm39) E124G probably benign Het
Nhsl3 T C 4: 129,121,516 (GRCm39) probably null Het
Nr4a2 T C 2: 57,002,240 (GRCm39) Y8C probably damaging Het
Nynrin T A 14: 56,100,789 (GRCm39) V193D probably damaging Het
Or10ak9 T A 4: 118,726,424 (GRCm39) S148T probably benign Het
Or10w1 G T 19: 13,632,179 (GRCm39) V129F probably benign Het
Or1p1 A T 11: 74,180,092 (GRCm39) I207F probably damaging Het
Or4k36 A T 2: 111,146,249 (GRCm39) I142F probably benign Het
Or6d15 A G 6: 116,559,701 (GRCm39) S69P probably damaging Het
Pcdh18 T C 3: 49,710,793 (GRCm39) Y174C probably damaging Het
Pcf11 T C 7: 92,318,767 (GRCm39) D21G possibly damaging Het
Pdia4 A C 6: 47,775,344 (GRCm39) F489V possibly damaging Het
Pitrm1 C T 13: 6,625,068 (GRCm39) P849S probably damaging Het
Plcz1 T C 6: 139,935,510 (GRCm39) Y644C probably damaging Het
Ppp5c T C 7: 16,761,650 (GRCm39) E28G probably benign Het
Prkcb A G 7: 122,189,393 (GRCm39) Y507C probably damaging Het
Rims2 A G 15: 39,398,251 (GRCm39) D1072G probably benign Het
Scarf1 A G 11: 75,405,988 (GRCm39) probably benign Het
Scoc T A 8: 84,184,887 (GRCm39) probably null Het
Sh2d4a A T 8: 68,734,973 (GRCm39) M31L probably damaging Het
Spta1 T A 1: 174,034,598 (GRCm39) probably benign Het
Stard7 A G 2: 127,134,127 (GRCm39) Y270C probably damaging Het
Svs3b T C 2: 164,097,881 (GRCm39) T147A probably benign Het
Tmtc3 A G 10: 100,284,823 (GRCm39) L604P probably damaging Het
Trim30b A T 7: 104,015,102 (GRCm39) N95K probably benign Het
Trpm8 C A 1: 88,255,870 (GRCm39) probably benign Het
Tspan9 T C 6: 127,943,448 (GRCm39) probably null Het
Tubgcp5 C T 7: 55,468,643 (GRCm39) R713C probably damaging Het
Tyro3 A T 2: 119,647,487 (GRCm39) Q872L probably damaging Het
Vmn1r204 G A 13: 22,740,379 (GRCm39) M3I probably benign Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Wdfy3 A G 5: 102,035,971 (GRCm39) I2149T possibly damaging Het
Zfp668 A T 7: 127,467,210 (GRCm39) M122K possibly damaging Het
Zkscan1 A T 5: 138,091,363 (GRCm39) D32V 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
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
Predicted Primers PCR Primer
(F):5'- TGTGTGAATGTACAGGACCAGCG -3'
(R):5'- GGGCATGTAGCAGGTACTCTGAAAC -3'

Sequencing Primer
(F):5'- CGTCTGGAGGTAAAGCTTATTATCTG -3'
(R):5'- caatgacattaactccagctcc -3'
Posted On 2013-04-11