Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01720:Cfap251'

105071

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cfap251

Ensembl Gene

ENSMUSG00000029442

Gene Name

cilia and flagella associated protein 251

Synonyms

4933428F06Rik, Wdr66, 4930415N18Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

IGL01720

Quality Score

Status

Chromosome

Chromosomal Location

123390196-123465547 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123460557 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1173 (D1173G)

Ref Sequence

ENSEMBL: ENSMUSP00000113309 (fasta)

Gene Model

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

AlphaFold

E9Q743

Predicted Effect

probably benign
Transcript: ENSMUST00000069311
AA Change: D199G

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000069782
Gene: ENSMUSG00000029442
AA Change: D199G

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 benign
Transcript: ENSMUST00000121964
AA Change: D1173G

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000113309
Gene: ENSMUSG00000029442
AA Change: D1173G

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

Coding Region Coverage

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	G	A	6: 85,605,076 (GRCm39)	R1773Q	probably benign	Het
Apc2	T	C	10: 80,150,333 (GRCm39)	S1796P	probably benign	Het
Asxl3	A	T	18: 22,658,382 (GRCm39)	I2131F	probably damaging	Het
Cdc42bpa	T	A	1: 179,938,847 (GRCm39)	D833E	probably damaging	Het
Cenpc1	A	G	5: 86,193,284 (GRCm39)	S202P	possibly damaging	Het
Cenpf	T	C	1: 189,414,583 (GRCm39)	E178G	probably benign	Het
Cenpf	T	C	1: 189,383,412 (GRCm39)	Y2636C	probably damaging	Het
Chkb	C	T	15: 89,312,155 (GRCm39)		probably null	Het
Cldn20	A	G	17: 3,583,375 (GRCm39)	T183A	probably benign	Het
Cpne8	C	T	15: 90,385,703 (GRCm39)	V442I	probably benign	Het
Cx3cl1	T	A	8: 95,504,701 (GRCm39)	M39K	probably damaging	Het
Dgkd	T	A	1: 87,864,487 (GRCm39)	L124Q	probably damaging	Het
Duxf4	A	C	10: 58,072,211 (GRCm39)	M1R	probably null	Het
Fam180a	T	C	6: 35,290,500 (GRCm39)	H161R	probably benign	Het
Galt	C	A	4: 41,757,463 (GRCm39)	R212S	probably damaging	Het
Gja10	T	C	4: 32,601,007 (GRCm39)	D459G	probably benign	Het
Glb1	T	C	9: 114,249,573 (GRCm39)		probably null	Het
Gm5709	A	T	3: 59,513,975 (GRCm39)		noncoding transcript	Het
Igf2r	A	G	17: 12,920,200 (GRCm39)	Y1380H	probably damaging	Het
Jag1	C	T	2: 136,929,023 (GRCm39)	G811D	probably damaging	Het
Lrguk	T	C	6: 34,020,412 (GRCm39)	F52S	probably damaging	Het
Lrrc15	A	T	16: 30,092,138 (GRCm39)	N400K	probably benign	Het
Map3k12	A	G	15: 102,410,621 (GRCm39)		probably benign	Het
Mbnl2	C	T	14: 120,562,682 (GRCm39)	T11I	probably damaging	Het
Mettl22	T	C	16: 8,302,117 (GRCm39)		probably benign	Het
Mgat4a	G	A	1: 37,483,979 (GRCm39)	A497V	probably damaging	Het
Mrpl49	C	A	19: 6,105,187 (GRCm39)	M91I	possibly damaging	Het
Or2ag18	A	T	7: 106,405,416 (GRCm39)	D84E	probably damaging	Het
Or2q1	G	A	6: 42,794,527 (GRCm39)	V41I	probably benign	Het
Pcdhb5	T	G	18: 37,454,075 (GRCm39)	S152A	probably benign	Het
Ppp1r13b	T	C	12: 111,824,694 (GRCm39)	T102A	probably benign	Het
Pramel23	T	A	4: 143,423,410 (GRCm39)		probably benign	Het
Prodh2	A	G	7: 30,210,628 (GRCm39)	D393G	probably damaging	Het
Pyroxd1	A	G	6: 142,296,784 (GRCm39)		probably benign	Het
Rad17	A	T	13: 100,759,366 (GRCm39)	C554S	possibly damaging	Het
Rapgef5	T	C	12: 117,577,055 (GRCm39)		probably benign	Het
Setdb2	A	G	14: 59,660,885 (GRCm39)	V86A	possibly damaging	Het
Slc38a2	A	T	15: 96,589,092 (GRCm39)		probably benign	Het
Slc9c1	A	G	16: 45,376,132 (GRCm39)	Y406C	probably damaging	Het
Slit1	T	C	19: 41,622,653 (GRCm39)	D702G	probably benign	Het
Stat3	T	C	11: 100,794,484 (GRCm39)	H275R	possibly damaging	Het
Susd5	T	A	9: 113,893,052 (GRCm39)	N43K	possibly damaging	Het
Ttc3	A	T	16: 94,186,228 (GRCm39)	K124N	probably damaging	Het
Usp36	C	A	11: 118,165,828 (GRCm39)	R165L	probably damaging	Het
Vwf	G	A	6: 125,619,798 (GRCm39)	R1492Q	possibly damaging	Het
Zbed6	A	G	1: 133,585,264 (GRCm39)	V691A	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
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
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

Posted On

2014-01-21