Mutagenetix > Incidental Mutation

Incidental Mutation 'R8242:Cfap251'

637602

Institutional Source

Beutler Lab

Gene Symbol

Cfap251

Ensembl Gene

ENSMUSG00000029442

Gene Name

cilia and flagella associated protein 251

Synonyms

4933428F06Rik, Wdr66, 4930415N18Rik

MMRRC Submission

067647-MU

Accession Numbers

Essential gene?

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

Stock #

R8242 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123390196-123465547 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 123411914 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 515 (D515E)

Ref Sequence

ENSEMBL: ENSMUSP00000113309 (fasta)

Gene Model

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

AlphaFold

E9Q743

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121964
AA Change: D515E

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113309
Gene: ENSMUSG00000029442
AA Change: D515E

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

probably damaging
Transcript: ENSMUST00000163092
AA Change: D18E

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126995
Gene: ENSMUSG00000029442
AA Change: D18E

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

possibly damaging
Transcript: ENSMUST00000170536
AA Change: D76E

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129769
Gene: ENSMUSG00000029442
AA Change: D76E

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.2%

Validation Efficiency

98% (42/43)

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
Adcy10	T	C	1: 165,374,118 (GRCm39)	Y736H	possibly damaging	Het
Akr1c12	G	A	13: 4,322,269 (GRCm39)	R258*	probably null	Het
Ankfn1	C	G	11: 89,417,271 (GRCm39)		probably null	Het
Arfgef3	T	C	10: 18,505,824 (GRCm39)	K947E	probably benign	Het
Barx2	C	A	9: 31,824,227 (GRCm39)	R54L	probably damaging	Het
BC030500	T	C	8: 59,365,388 (GRCm39)	I13T	unknown	Het
Bcl11a	T	A	11: 24,113,208 (GRCm39)	F184I	probably benign	Het
Cfap43	A	G	19: 47,885,808 (GRCm39)	L269P	probably damaging	Het
Col8a1	G	T	16: 57,452,721 (GRCm39)	P94Q	possibly damaging	Het
Coq5	T	C	5: 115,417,806 (GRCm39)	V12A	probably benign	Het
Csmd1	A	G	8: 16,760,670 (GRCm39)	V155A	probably benign	Het
Defb22	A	C	2: 152,328,007 (GRCm39)	C59W	probably damaging	Het
Dsg3	A	G	18: 20,669,980 (GRCm39)	T665A	possibly damaging	Het
Gm10542	A	G	18: 44,337,708 (GRCm39)	D62G	possibly damaging	Het
Gm45861	G	A	8: 28,038,821 (GRCm39)	S987N	unknown	Het
Gm5591	T	A	7: 38,219,746 (GRCm39)	T376S	probably benign	Het
Hps3	C	T	3: 20,068,290 (GRCm39)	R588H	possibly damaging	Het
Itpr1	A	T	6: 108,363,658 (GRCm39)	D760V	probably benign	Het
Mfsd8	G	A	3: 40,789,628 (GRCm39)	R140C	probably damaging	Het
Mroh2b	A	T	15: 4,938,522 (GRCm39)	R270S	probably benign	Het
Mroh4	G	T	15: 74,488,157 (GRCm39)	H350N	possibly damaging	Het
Nsd3	G	T	8: 26,196,567 (GRCm39)	E1183*	probably null	Het
Or13a19	T	A	7: 139,902,696 (GRCm39)	L28*	probably null	Het
Or4p7	A	G	2: 88,222,418 (GRCm39)	I276V	possibly damaging	Het
Or51f23b	T	C	7: 102,402,306 (GRCm39)	M277V	probably benign	Het
Or8k53	A	T	2: 86,177,426 (GRCm39)	M228K	probably damaging	Het
Pex5l	T	A	3: 33,060,184 (GRCm39)	T196S	probably benign	Het
Phlpp2	T	C	8: 110,666,834 (GRCm39)	V1121A	probably benign	Het
Rab3gap2	T	A	1: 184,954,050 (GRCm39)	S41T	probably benign	Het
Rad51c	A	T	11: 87,280,712 (GRCm39)	N293K	probably damaging	Het
Rgs3	C	A	4: 62,538,022 (GRCm39)	Q18K	probably benign	Het
Ripk2	C	T	4: 16,124,430 (GRCm39)	G426D	probably benign	Het
Rpl22l1	T	C	3: 28,860,914 (GRCm39)	V44A	possibly damaging	Het
Sntb1	C	T	15: 55,655,629 (GRCm39)	A196T	possibly damaging	Het
Sorcs3	C	T	19: 48,194,913 (GRCm39)	R99W	possibly damaging	Het
Tdrd6	T	C	17: 43,939,821 (GRCm39)	E409G	probably damaging	Het
Timm50	A	T	7: 28,007,836 (GRCm39)	D105E	probably benign	Het
Tsga10	A	T	1: 37,846,182 (GRCm39)	S315T	probably benign	Het
Ttpa	G	A	4: 20,028,511 (GRCm39)	C256Y	probably damaging	Het
Vinac1	G	T	2: 128,881,313 (GRCm39)	C204*	probably null	Het
Vmn2r13	T	C	5: 109,322,872 (GRCm39)	Y139C	possibly damaging	Het
Washc5	A	G	15: 59,215,971 (GRCm39)	S803P	probably damaging	Het
Zfp985	A	C	4: 147,668,639 (GRCm39)	K502N	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
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
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'- TCCGTTGCACAGACAGATC -3'
(R):5'- ATGGGACCCAAGCCAATACTG -3'

Sequencing Primer
(F):5'- CGTTGCACAGACAGATCATTCGG -3'
(R):5'- CAAGCCAATACTGTGATGTCTGC -3'

Posted On

2020-07-13