Mutagenetix > Incidental Mutation

Incidental Mutation 'R5600:Cfap251'

438980

Institutional Source

Beutler Lab

Gene Symbol

Cfap251

Ensembl Gene

ENSMUSG00000029442

Gene Name

cilia and flagella associated protein 251

Synonyms

4933428F06Rik, Wdr66, 4930415N18Rik

MMRRC Submission

043152-MU

Accession Numbers

Essential gene?

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

Stock #

R5600 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

123390196-123465547 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123426761 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 383 (V383A)

Ref Sequence

ENSEMBL: ENSMUSP00000126995 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000121964] [ENSMUST00000163092] [ENSMUST00000170536]

AlphaFold

E9Q743

Predicted Effect

probably benign
Transcript: ENSMUST00000121964
AA Change: V880A

PolyPhen 2 Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113309
Gene: ENSMUSG00000029442
AA Change: V880A

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: ENSMUST00000133476

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143629

Predicted Effect

probably benign
Transcript: ENSMUST00000150155

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163092
AA Change: V383A

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000126995
Gene: ENSMUSG00000029442
AA Change: V383A

Domain	Start	End	E-Value	Type
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

Predicted Effect

probably benign
Transcript: ENSMUST00000170536
AA Change: V441A

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000129769
Gene: ENSMUSG00000029442
AA Change: V441A

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000197763

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.9%
20x: 97.0%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol11b	A	C	15: 77,519,288 (GRCm39)	M264R	probably damaging	Het
Asprv1	G	T	6: 86,606,044 (GRCm39)	E297*	probably null	Het
Atp6v1c1	T	C	15: 38,687,107 (GRCm39)	V234A	probably benign	Het
Ccp110	G	A	7: 118,328,948 (GRCm39)		probably null	Het
Fgfrl1	T	C	5: 108,853,168 (GRCm39)	C173R	probably damaging	Het
Gm5431	G	A	11: 48,785,583 (GRCm39)	T264M	possibly damaging	Het
Golga1	T	C	2: 38,910,111 (GRCm39)	E637G	probably damaging	Het
Gpr158	A	G	2: 21,832,046 (GRCm39)	T1049A	probably benign	Het
Hcn4	T	A	9: 58,766,576 (GRCm39)		probably null	Het
Krt86	G	A	15: 101,374,386 (GRCm39)	V260I	probably benign	Het
Ktn1	A	T	14: 47,927,490 (GRCm39)	Q548L	probably damaging	Het
Lingo4	A	T	3: 94,309,220 (GRCm39)	I53F	probably benign	Het
Lrrk1	A	C	7: 65,956,963 (GRCm39)	I336S	probably benign	Het
Magel2	G	T	7: 62,029,514 (GRCm39)	G806V	unknown	Het
Mrc2	T	A	11: 105,224,492 (GRCm39)	S501T	probably damaging	Het
Mrps18a	T	A	17: 46,436,575 (GRCm39)	L128*	probably null	Het
Mtor	G	T	4: 148,575,927 (GRCm39)	L1360F	probably damaging	Het
Mtpap	A	G	18: 4,379,674 (GRCm39)	E88G	probably damaging	Het
Myo5c	A	G	9: 75,196,436 (GRCm39)	K1294R	probably benign	Het
Or10al2	G	A	17: 37,983,176 (GRCm39)	M87I	possibly damaging	Het
Pik3c3	G	A	18: 30,444,346 (GRCm39)	V520M	probably damaging	Het
Pptc7	T	A	5: 122,458,918 (GRCm39)	V305E	probably damaging	Het
Ptgfrn	T	C	3: 100,963,566 (GRCm39)	D682G	probably damaging	Het
Rfx6	A	T	10: 51,599,157 (GRCm39)	Q538L	probably damaging	Het
Sbk1	G	A	7: 125,891,415 (GRCm39)	R283H	probably damaging	Het
Sfswap	T	C	5: 129,590,222 (GRCm39)	F240L	probably damaging	Het
Siglec1	T	A	2: 130,927,503 (GRCm39)	H101L	probably benign	Het
Smg1	A	G	7: 117,767,107 (GRCm39)		probably benign	Het
Spink5	A	G	18: 44,151,778 (GRCm39)	T986A	probably damaging	Het
Stat1	T	A	1: 52,188,101 (GRCm39)	S496T	probably benign	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tenm2	C	T	11: 36,054,541 (GRCm39)		probably null	Het
Tiam1	G	T	16: 89,662,253 (GRCm39)	R622S	probably damaging	Het
Vmn2r109	C	A	17: 20,761,189 (GRCm39)	D723Y	probably damaging	Het
Vmn2r70	G	T	7: 85,212,935 (GRCm39)	Q491K	probably benign	Het
Wnk1	A	C	6: 119,926,319 (GRCm39)	S1297R	probably damaging	Het
Zan	C	T	5: 137,385,233 (GRCm39)	V5067I	unknown	Het
Zfp108	A	G	7: 23,960,011 (GRCm39)	S201G	probably benign	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
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'- CACTACGTATTCTGCTGTGCTAAG -3'
(R):5'- GGGTCTACACAAGATGCCAG -3'

Sequencing Primer
(F):5'- AAGATTTGTCTGGAGAACGTATCCCG -3'
(R):5'- TCTACACAAGATGCCAGGGATG -3'

Posted On

2016-10-26