Mutagenetix > Incidental Mutation

Incidental Mutation 'R3437:Cfap251'

267229

Institutional Source

Beutler Lab

Gene Symbol

Cfap251

Ensembl Gene

ENSMUSG00000029442

Gene Name

cilia and flagella associated protein 251

Synonyms

4933428F06Rik, Wdr66, 4930415N18Rik

MMRRC Submission

040655-MU

Accession Numbers

Essential gene?

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

Stock #

R3437 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123390196-123465547 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 123392435 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

Domain	Start	End	E-Value	Type
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: K190E

SMART Domains

Protein: ENSMUSP00000113309
Gene: ENSMUSG00000029442
AA Change: K190E

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: ENSMUST00000148282

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.6%

Validation Efficiency

100% (42/42)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	G	6: 121,616,253 (GRCm39)	L127R	probably null	Het
Ambp	T	C	4: 63,067,721 (GRCm39)	E163G	probably benign	Het
Amy1	G	A	3: 113,349,658 (GRCm39)	A504V	probably damaging	Het
Angptl3	A	T	4: 98,921,540 (GRCm39)	K219N	probably benign	Het
Atp6v1g1	A	G	4: 63,468,255 (GRCm39)	N86S	probably benign	Het
Avl9	T	C	6: 56,713,612 (GRCm39)	V290A	probably benign	Het
Bad	A	G	19: 6,919,799 (GRCm39)	R37G	probably benign	Het
Bicra	T	C	7: 15,723,223 (GRCm39)	D98G	possibly damaging	Het
Col4a4	G	A	1: 82,474,889 (GRCm39)	T650M	unknown	Het
Cyp11b2	T	C	15: 74,727,298 (GRCm39)	R128G	probably benign	Het
Dst	T	C	1: 34,229,303 (GRCm39)	S1974P	probably damaging	Het
Fabp1	T	C	6: 71,178,595 (GRCm39)	L24P	probably benign	Het
Flnb	T	C	14: 7,942,057 (GRCm38)	V2345A	probably damaging	Het
Gmnc	G	T	16: 26,779,217 (GRCm39)	H221Q	probably benign	Het
Homer1	T	C	13: 93,502,929 (GRCm39)		probably benign	Het
Kit	A	G	5: 75,806,565 (GRCm39)	D690G	probably damaging	Het
Lama2	C	T	10: 26,877,231 (GRCm39)	E2652K	probably benign	Het
Mc3r	C	T	2: 172,091,588 (GRCm39)	T270I	probably benign	Het
Mrgpra3	A	C	7: 47,239,314 (GRCm39)	L204W	probably damaging	Het
Mroh1	C	T	15: 76,317,808 (GRCm39)	T839I	possibly damaging	Het
Naip2	T	A	13: 100,291,419 (GRCm39)	H1173L	probably benign	Het
Optc	T	C	1: 133,825,617 (GRCm39)	D303G	probably damaging	Het
Or2n1d	A	G	17: 38,646,323 (GRCm39)	I92V	probably damaging	Het
Or5af1	A	T	11: 58,722,150 (GRCm39)	M57L	probably damaging	Het
P4ha3	C	T	7: 99,934,831 (GRCm39)	A31V	possibly damaging	Het
Plch2	A	G	4: 155,075,470 (GRCm39)		probably null	Het
Plpp2	A	T	10: 79,363,647 (GRCm39)		probably null	Het
Polq	A	T	16: 36,882,699 (GRCm39)	N1342I	probably damaging	Het
Pter	T	A	2: 13,005,805 (GRCm39)	L326H	probably benign	Het
Pwwp2a	C	T	11: 43,597,015 (GRCm39)	Q452*	probably null	Het
Slc8a2	T	G	7: 15,892,810 (GRCm39)	V824G	probably damaging	Het
Slfn2	A	T	11: 82,960,390 (GRCm39)	H123L	probably benign	Het
Tmem132e	A	G	11: 82,335,156 (GRCm39)	Y654C	probably damaging	Het
Trim14	C	T	4: 46,523,739 (GRCm39)	V100I	possibly damaging	Het
Tro	G	A	X: 149,429,252 (GRCm39)		probably benign	Het
Uspl1	T	A	5: 149,151,507 (GRCm39)		probably benign	Het
Uty	A	G	Y: 1,158,336 (GRCm39)	I522T	probably benign	Het
Vmn1r120	A	C	7: 20,787,582 (GRCm39)	L43W	probably damaging	Het
Vmn2r16	A	T	5: 109,478,362 (GRCm39)	D39V	probably damaging	Het
Washc4	T	A	10: 83,405,866 (GRCm39)	I454N	probably benign	Het
Wnt16	T	C	6: 22,298,133 (GRCm39)	V333A	probably damaging	Het
Ylpm1	T	C	12: 85,096,644 (GRCm39)		probably null	Het
Zfy1	A	T	Y: 726,357 (GRCm39)	D469E	possibly damaging	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
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

2015-02-18