Incidental Mutation 'R1169:Cfap251'
ID 101457
Institutional Source Beutler Lab
Gene Symbol Cfap251
Ensembl Gene ENSMUSG00000029442
Gene Name cilia and flagella associated protein 251
Synonyms 4933428F06Rik, Wdr66, 4930415N18Rik
MMRRC Submission 039242-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R1169 (G1)
Quality Score 118
Status Not validated
Chromosome 5
Chromosomal Location 123390196-123465547 bp(+) (GRCm39)
Type of Mutation small deletion (1 aa in frame mutation)
DNA Base Change (assembly) GGGAGGAGGAGGAGGAGGAGGA to GGGAGGAGGAGGAGGAGGA at 123392673 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113309 (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 probably benign
Transcript: ENSMUST00000121964
SMART Domains Protein: ENSMUSP00000113309
Gene: ENSMUSG00000029442

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: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.0%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17a T C 10: 80,419,781 (GRCm39) E275G probably damaging Het
Adam10 T A 9: 70,653,574 (GRCm39) I123N probably damaging Het
Adam8 A T 7: 139,563,842 (GRCm39) L715Q probably benign Het
Adcyap1r1 T A 6: 55,471,101 (GRCm39) F418L probably damaging Het
Ankrd50 A T 3: 38,508,401 (GRCm39) I1322K probably damaging Het
Arid4a G A 12: 71,122,112 (GRCm39) S509N probably benign Het
Atxn7 T C 14: 14,095,468 (GRCm38) S389P possibly damaging Het
C4b A T 17: 34,961,946 (GRCm39) L100Q probably benign Het
Cacul1 G A 19: 60,568,846 (GRCm39) A104V probably damaging Het
Camsap3 T C 8: 3,653,866 (GRCm39) F512S probably damaging Het
Casp1 T C 9: 5,299,454 (GRCm39) V61A possibly damaging Het
Chd1 T A 17: 15,955,994 (GRCm39) F531Y probably damaging Het
Clec2h C T 6: 128,651,758 (GRCm39) Q156* probably null Het
Clip2 T A 5: 134,521,104 (GRCm39) E978V probably benign Het
Cnpy2 T G 10: 128,159,465 (GRCm39) L34R probably damaging Het
Cog6 A T 3: 52,921,265 (GRCm39) C114S probably benign Het
Col6a3 A T 1: 90,749,736 (GRCm39) V366E possibly damaging Het
Col6a5 A G 9: 105,774,173 (GRCm39) probably null Het
Cplx3 T C 9: 57,517,278 (GRCm39) T369A probably damaging Het
Dmbt1 G A 7: 130,676,254 (GRCm39) probably null Het
Dok1 A G 6: 83,009,029 (GRCm39) F218L possibly damaging Het
Dph7 T A 2: 24,856,583 (GRCm39) N178K probably benign Het
Enam A T 5: 88,651,117 (GRCm39) E800D probably damaging Het
Fads3 A T 19: 10,031,463 (GRCm39) Q205L possibly damaging Het
Fbxo44 T C 4: 148,240,433 (GRCm39) H265R probably benign Het
Gli1 T A 10: 127,174,320 (GRCm39) S24C probably damaging Het
Gm4894 T A 9: 49,185,526 (GRCm39) C43* probably null Het
Gpbp1l1 C T 4: 116,431,563 (GRCm39) H74Y possibly damaging Het
H2-Eb2 T A 17: 34,552,331 (GRCm39) F59I possibly damaging Het
Hspa14 T C 2: 3,499,161 (GRCm39) N211S possibly damaging Het
Ifnlr1 T G 4: 135,432,419 (GRCm39) F285C probably benign Het
Igf1r G T 7: 67,814,875 (GRCm39) V259L probably benign Het
Igf2bp2 A T 16: 21,897,480 (GRCm39) Y244* probably null Het
Ighg2c A T 12: 113,249,572 (GRCm39) probably benign Het
Ighv8-14 A T 12: 115,772,075 (GRCm39) probably null Het
Iqsec2 A G X: 150,927,727 (GRCm39) S87G probably benign Het
Itsn2 A G 12: 4,689,694 (GRCm39) K589R probably damaging Het
Khdc1a A C 1: 21,420,495 (GRCm39) E38D possibly damaging Het
Krt42 T G 11: 100,154,171 (GRCm39) probably null Het
Lpo T C 11: 87,708,143 (GRCm39) N183S possibly damaging Het
Lrrc3 T A 10: 77,736,764 (GRCm39) Y224F probably damaging Het
Ly6g6f T A 17: 35,302,240 (GRCm39) D99V probably damaging Het
Lyplal1 T C 1: 185,846,531 (GRCm39) I42V probably benign Het
Mis18bp1 G A 12: 65,190,057 (GRCm39) Q793* probably null Het
Myh10 T G 11: 68,653,667 (GRCm39) M346R probably damaging Het
Nav1 G T 1: 135,382,943 (GRCm39) H1256Q probably damaging Het
Nbea A G 3: 55,875,744 (GRCm39) V1642A probably benign Het
Or4d6 C T 19: 12,086,853 (GRCm39) R19H probably benign Het
Or8b12i T C 9: 20,082,354 (GRCm39) N171S probably benign Het
Or8i2 A G 2: 86,852,061 (GRCm39) F276L probably damaging Het
Or8k28 A G 2: 86,285,931 (GRCm39) I228T possibly damaging Het
Orm3 G A 4: 63,276,085 (GRCm39) V166M probably damaging Het
Oxct1 T A 15: 4,120,708 (GRCm39) I264N probably damaging Het
Paox G A 7: 139,706,244 (GRCm39) V55I probably benign Het
Pde4d C A 13: 110,087,462 (GRCm39) probably null Het
Pnliprp1 A G 19: 58,723,383 (GRCm39) N258S probably damaging Het
Potegl A G 2: 23,146,994 (GRCm39) K275E possibly damaging Het
Prl7b1 C A 13: 27,790,887 (GRCm39) R66L possibly damaging Het
Ptpre G T 7: 135,269,341 (GRCm39) C261F probably benign Het
Rho C G 6: 115,909,199 (GRCm39) N78K probably damaging Het
Rnf17 A G 14: 56,751,622 (GRCm39) N1487D possibly damaging Het
Ryr3 G A 2: 112,563,359 (GRCm39) T2922I probably benign Het
Saxo2 A C 7: 82,284,379 (GRCm39) F160V possibly damaging Het
Sbf2 A T 7: 109,909,391 (GRCm39) Y1786N probably benign Het
Sdad1 A T 5: 92,446,092 (GRCm39) V280E probably benign Het
Sgsm1 T C 5: 113,427,351 (GRCm39) D90G probably damaging Het
Siglec1 A T 2: 130,916,747 (GRCm39) D1169E probably damaging Het
Sim1 T A 10: 50,857,618 (GRCm39) V456E probably benign Het
Skint8 T A 4: 111,785,710 (GRCm39) I52N possibly damaging Het
Slc27a1 C A 8: 72,033,297 (GRCm39) R280S probably benign Het
Slc9a3 G A 13: 74,298,862 (GRCm39) V94I probably damaging Het
Sorcs2 C A 5: 36,185,269 (GRCm39) V936L possibly damaging Het
Syce1 A G 7: 140,358,120 (GRCm39) F255S probably benign Het
Tmc7 G A 7: 118,150,483 (GRCm39) S350L probably benign Het
Tmem200a T A 10: 25,870,246 (GRCm39) I8F probably damaging Het
Trip6 T C 5: 137,310,182 (GRCm39) H322R probably benign Het
Vmn2r72 A T 7: 85,400,517 (GRCm39) N177K 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
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
Posted On 2014-01-15