Mutagenetix > Incidental Mutation

Incidental Mutation 'R6293:Cfap251'

508547

Institutional Source

Beutler Lab

Gene Symbol

Cfap251

Ensembl Gene

ENSMUSG00000029442

Gene Name

cilia and flagella associated protein 251

Synonyms

4933428F06Rik, Wdr66, 4930415N18Rik

MMRRC Submission

044462-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R6293 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123390196-123465547 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 123460511 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Histidine at position 1158 (N1158H)

Ref Sequence

ENSEMBL: ENSMUSP00000113309 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069311] [ENSMUST00000121964]

AlphaFold

E9Q743

Predicted Effect

probably damaging
Transcript: ENSMUST00000069311
AA Change: N184H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000069782
Gene: ENSMUSG00000029442
AA Change: N184H

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000121964
AA Change: N1158H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113309
Gene: ENSMUSG00000029442
AA Change: N1158H

Domain	Start	End	E-Value	Type
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

probably benign
Transcript: ENSMUST00000150155

Meta Mutation Damage Score

0.1376

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.4%

Validation Efficiency

98% (54/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,935,395 (GRCm39)	D323G	probably damaging	Het
Abcb1b	T	C	5: 8,903,493 (GRCm39)	I1048T	probably benign	Het
Adgra3	G	A	5: 50,118,189 (GRCm39)	P1120S	probably benign	Het
Alkbh8	G	T	9: 3,347,841 (GRCm39)	L211F	possibly damaging	Het
Ankrd27	T	C	7: 35,307,885 (GRCm39)	S375P	possibly damaging	Het
Apoc1	T	A	7: 19,425,817 (GRCm39)	T68S	probably damaging	Het
Arfgef2	T	A	2: 166,715,508 (GRCm39)	Y1318N	possibly damaging	Het
Camsap2	C	A	1: 136,215,658 (GRCm39)	R345L	probably damaging	Het
Ccdc38	C	T	10: 93,398,659 (GRCm39)	Q46*	probably null	Het
Cdk12	T	A	11: 98,115,379 (GRCm39)	M840K	unknown	Het
Col12a1	A	T	9: 79,521,640 (GRCm39)	N2772K	probably benign	Het
Dthd1	A	G	5: 63,000,193 (GRCm39)	D505G	probably damaging	Het
Elf1	C	T	14: 79,798,226 (GRCm39)	H38Y	probably damaging	Het
Gcnt2	T	A	13: 41,072,173 (GRCm39)	V272D	probably damaging	Het
Gm9964	T	A	11: 79,187,420 (GRCm39)	K9M	unknown	Het
Gpr155	A	G	2: 73,204,341 (GRCm39)	S158P	possibly damaging	Het
Haus5	C	T	7: 30,358,401 (GRCm39)	W298*	probably null	Het
Hmcn2	T	C	2: 31,225,463 (GRCm39)	I124T	probably damaging	Het
Hydin	A	G	8: 111,324,543 (GRCm39)	S4635G	possibly damaging	Het
Lrch2	C	T	X: 146,263,553 (GRCm39)	A369T	probably damaging	Homo
Lrrc8c	A	G	5: 105,754,612 (GRCm39)	Y129C	probably damaging	Het
Mbtd1	C	T	11: 93,823,058 (GRCm39)	H493Y	possibly damaging	Het
Mcm3ap	C	G	10: 76,307,312 (GRCm39)	Y418*	probably null	Het
Mpdz	A	G	4: 81,278,293 (GRCm39)	L764P	probably damaging	Het
Myt1l	A	G	12: 29,877,627 (GRCm39)	D426G	unknown	Het
Ndel1	C	T	11: 68,727,101 (GRCm39)	R192H	probably damaging	Het
Nudt21	T	C	8: 94,755,506 (GRCm39)	D134G	probably damaging	Het
Nup210l	A	T	3: 90,022,371 (GRCm39)	H113L	probably damaging	Het
Nxf1	A	G	19: 8,746,546 (GRCm39)	K586E	probably damaging	Het
Or2ag15	T	C	7: 106,340,613 (GRCm39)	H176R	probably damaging	Het
Or4s2	A	G	2: 88,473,624 (GRCm39)	E171G	possibly damaging	Het
Osbpl8	A	G	10: 111,108,099 (GRCm39)	Y365C	possibly damaging	Het
Pkd2l2	A	G	18: 34,560,497 (GRCm39)	Y368C	probably damaging	Het
Pkn2	A	G	3: 142,515,465 (GRCm39)	F649L	probably benign	Het
Pla2g4a	T	C	1: 149,755,798 (GRCm39)	Y205C	probably damaging	Het
Prex2	A	G	1: 11,232,522 (GRCm39)	N863S	probably benign	Het
Prkdc	A	G	16: 15,605,019 (GRCm39)	K2979R	probably benign	Het
Ptk6	T	C	2: 180,840,253 (GRCm39)	Y251C	probably damaging	Het
Rapgef6	T	A	11: 54,525,607 (GRCm39)	W334R	probably damaging	Het
Rbm11	A	T	16: 75,393,655 (GRCm39)		probably null	Het
Rhbdl1	A	G	17: 26,053,943 (GRCm39)	L309P	probably damaging	Het
Rhbg	G	A	3: 88,153,133 (GRCm39)	R274*	probably null	Het
Rpp30	A	G	19: 36,081,845 (GRCm39)	*269W	probably null	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Homo
Slc44a1	A	G	4: 53,561,099 (GRCm39)	K605R	probably damaging	Het
Slco2a1	A	G	9: 102,927,346 (GRCm39)	S80G	probably benign	Het
Tmem50b	A	T	16: 91,380,164 (GRCm39)	M71K	probably damaging	Het
Ttn	G	A	2: 76,579,673 (GRCm39)	T23740M	probably damaging	Het
Tyro3	A	G	2: 119,638,481 (GRCm39)	T303A	possibly damaging	Het
Uba3	A	T	6: 97,173,869 (GRCm39)	D105E	probably damaging	Het
Vmn1r21	T	C	6: 57,821,255 (GRCm39)	D63G	probably benign	Het
Vstm2b	T	A	7: 40,549,533 (GRCm39)	I63N	probably damaging	Het
Ylpm1	C	G	12: 85,062,051 (GRCm39)	P651A	unknown	Het
Zscan22	T	A	7: 12,640,834 (GRCm39)	C359*	probably null	Het

Other mutations in Cfap251

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- GAAAACTTCAGCAATCTGTCCTGG -3'
(R):5'- AAGTTCAGGAAATCCTCTCTCCG -3'

Sequencing Primer
(F):5'- AGCAATCTGTCCTGGGGTGG -3'
(R):5'- GGAAATCCTCTCTCCGAATGG -3'

Posted On

2018-03-15