Incidental Mutation 'R2418:Cfap251'
ID 249062
Institutional Source Beutler Lab
Gene Symbol Cfap251
Ensembl Gene ENSMUSG00000029442
Gene Name cilia and flagella associated protein 251
Synonyms 4933428F06Rik, Wdr66, 4930415N18Rik
MMRRC Submission 040380-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R2418 (G1)
Quality Score 97
Status Not validated
Chromosome 5
Chromosomal Location 123390196-123465547 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to C at 123392331 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: N155T
SMART Domains Protein: ENSMUSP00000113309
Gene: ENSMUSG00000029442
AA Change: N155T

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: 97.2%
  • 20x: 94.8%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 G A 2: 25,328,001 (GRCm39) A768T probably benign Het
Acox3 A G 5: 35,761,982 (GRCm39) N442S probably benign Het
Acp5 C A 9: 22,041,248 (GRCm39) V60L probably benign Het
Arap3 T C 18: 38,122,997 (GRCm39) D501G probably damaging Het
Bcorl1 A G X: 47,459,418 (GRCm39) T425A probably damaging Het
Btd G A 14: 31,363,093 (GRCm39) probably null Het
Cfap74 T A 4: 155,540,166 (GRCm39) probably benign Het
Cnot8 G A 11: 58,006,136 (GRCm39) G222R probably damaging Het
Col4a4 G T 1: 82,510,657 (GRCm39) A205E unknown Het
Cwf19l1 T C 19: 44,119,911 (GRCm39) T77A probably benign Het
Cyp2b9 A G 7: 25,886,132 (GRCm39) T100A probably benign Het
Ddx24 A G 12: 103,383,996 (GRCm39) L485P probably damaging Het
Dnah9 A T 11: 65,986,241 (GRCm39) L1131* probably null Het
Dnase1l3 T A 14: 7,968,089 (GRCm38) E272V possibly damaging Het
Dscc1 G A 15: 54,946,820 (GRCm39) R302* probably null Het
Elk3 T C 10: 93,120,689 (GRCm39) N50S probably damaging Het
Fmo3 A T 1: 162,794,527 (GRCm39) I181K probably benign Het
Golga3 T C 5: 110,349,734 (GRCm39) I655T probably damaging Het
Hspa1l A T 17: 35,196,164 (GRCm39) T68S probably benign Het
Itgax C T 7: 127,741,505 (GRCm39) R839W probably damaging Het
Itk A G 11: 46,229,044 (GRCm39) F379L probably damaging Het
Kif7 C A 7: 79,348,441 (GRCm39) R1300L probably benign Het
Klkb1 A T 8: 45,742,149 (GRCm39) D43E possibly damaging Het
Kmt5b C T 19: 3,857,266 (GRCm39) A318V probably benign Het
Krt78 T C 15: 101,855,069 (GRCm39) Y914C probably benign Het
Lactb2 T C 1: 13,730,563 (GRCm39) T38A possibly damaging Het
Lmbr1l A C 15: 98,805,418 (GRCm39) F361C possibly damaging Het
Magi1 T C 6: 93,722,891 (GRCm39) D329G probably damaging Het
Map3k5 T A 10: 19,986,603 (GRCm39) V939E probably benign Het
Mcm8 C T 2: 132,666,658 (GRCm39) A233V probably benign Het
Mcur1 C T 13: 43,703,013 (GRCm39) V241M possibly damaging Het
Mical2 G T 7: 111,919,941 (GRCm39) probably null Het
Nudt13 A G 14: 20,361,581 (GRCm39) E219G probably damaging Het
Or4c107 A G 2: 88,789,380 (GRCm39) N190S probably benign Het
Or52d3 A T 7: 104,229,141 (GRCm39) H96L probably benign Het
Or6b1 A G 6: 42,814,983 (GRCm39) H56R probably benign Het
Osbpl7 A C 11: 96,950,004 (GRCm39) D395A probably benign Het
Osbpl9 A G 4: 108,923,415 (GRCm39) C495R probably damaging Het
Pcdhac1 T C 18: 37,224,381 (GRCm39) L398P probably benign Het
Pcnx4 T A 12: 72,603,037 (GRCm39) F433Y probably damaging Het
Pdp1 G A 4: 11,961,838 (GRCm39) P158S probably damaging Het
Pkd1l3 A C 8: 110,397,353 (GRCm39) *2152C probably null Het
Plcxd3 G T 15: 4,604,245 (GRCm39) K284N probably benign Het
Plxnb2 A G 15: 89,045,272 (GRCm39) V1058A possibly damaging Het
Ptbp1 T C 10: 79,695,511 (GRCm39) Y187H probably damaging Het
Resp18 T C 1: 75,248,955 (GRCm39) *176W probably null Het
Rps6ka2 A C 17: 7,566,738 (GRCm39) Q665H possibly damaging Het
Rtn1 T C 12: 72,351,052 (GRCm39) T386A probably benign Het
Samt2 A T X: 153,358,223 (GRCm39) probably null Het
Scn1a T C 2: 66,104,187 (GRCm39) N1663S probably damaging Het
Smyd1 A T 6: 71,216,537 (GRCm39) I70N probably damaging Het
Tas2r105 T C 6: 131,664,410 (GRCm39) E6G probably damaging Het
Tchh G T 3: 93,352,936 (GRCm39) R792L unknown Het
Tenm3 C T 8: 48,729,693 (GRCm39) D1438N possibly damaging Het
Tmem184b A G 15: 79,250,143 (GRCm39) Y211H possibly damaging Het
Top3a C A 11: 60,638,842 (GRCm39) G551V possibly damaging Het
Vmn1r168 A T 7: 23,240,824 (GRCm39) N227I probably benign Het
Vmn1r203 T A 13: 22,709,004 (GRCm39) S262T possibly damaging Het
Vmn1r204 T G 13: 22,740,420 (GRCm39) L17R 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
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
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 2014-11-12