Mutagenetix > Incidental Mutation

Incidental Mutation 'R0355:Evc'

29752

Institutional Source

Beutler Lab

Gene Symbol

Evc

Ensembl Gene

ENSMUSG00000029122

Gene Name

EvC ciliary complex subunit 1

Synonyms

Ellis van Creveld gene syndrome

MMRRC Submission

038561-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

R0355 (G1)

Quality Score

201

Status

Validated

Chromosome

Chromosomal Location

37446442-37494238 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 37473656 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000109791 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031005] [ENSMUST00000114148] [ENSMUST00000114154]

AlphaFold

P57680

Predicted Effect

probably benign
Transcript: ENSMUST00000031005

SMART Domains

Protein: ENSMUSP00000031005
Gene: ENSMUSG00000029122

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
low complexity region	77	92	N/A	INTRINSIC
low complexity region	173	183	N/A	INTRINSIC
low complexity region	449	472	N/A	INTRINSIC
low complexity region	640	652	N/A	INTRINSIC
low complexity region	670	682	N/A	INTRINSIC
coiled coil region	694	725	N/A	INTRINSIC
low complexity region	772	786	N/A	INTRINSIC
coiled coil region	871	911	N/A	INTRINSIC
low complexity region	927	944	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114148

SMART Domains

Protein: ENSMUSP00000109785
Gene: ENSMUSG00000029122

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
low complexity region	77	92	N/A	INTRINSIC
low complexity region	173	183	N/A	INTRINSIC
low complexity region	449	472	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114154

SMART Domains

Protein: ENSMUSP00000109791
Gene: ENSMUSG00000029122

Domain	Start	End	E-Value	Type
low complexity region	272	295	N/A	INTRINSIC
low complexity region	463	475	N/A	INTRINSIC
low complexity region	493	505	N/A	INTRINSIC
coiled coil region	517	548	N/A	INTRINSIC
low complexity region	595	609	N/A	INTRINSIC
coiled coil region	694	734	N/A	INTRINSIC
low complexity region	750	767	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124426

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133376

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149890

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154885

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.3%
20x: 90.2%

Validation Efficiency

100% (76/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing a leucine zipper and a transmembrane domain. This gene has been implicated in both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit some lethality shortly after birth and exhibit aphagia, infertile, teeth abnormalities, short limbs and long bones, delays in ossification, and short ribs. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	G	7: 120,023,021 (GRCm39)	I52M	possibly damaging	Het
Agbl5	G	T	5: 31,049,335 (GRCm39)		probably null	Het
Akt2	T	C	7: 27,336,334 (GRCm39)		probably benign	Het
Arl6ip5	T	A	6: 97,209,378 (GRCm39)	S138T	probably damaging	Het
Atp9b	A	G	18: 80,952,800 (GRCm39)		probably benign	Het
Ccdc171	A	T	4: 83,553,919 (GRCm39)	N422Y	probably damaging	Het
Ccr5	C	T	9: 123,924,951 (GRCm39)	P185S	possibly damaging	Het
Cep63	G	T	9: 102,500,759 (GRCm39)	Q38K	probably benign	Het
Cgn	T	C	3: 94,682,242 (GRCm39)	S446G	probably benign	Het
Col16a1	T	A	4: 129,952,206 (GRCm39)		probably benign	Het
Csmd1	T	A	8: 15,968,330 (GRCm39)	Q3099L	probably damaging	Het
Dcc	G	A	18: 71,708,279 (GRCm39)	T479I	possibly damaging	Het
Dclre1a	A	G	19: 56,535,067 (GRCm39)		probably null	Het
Dlg1	T	A	16: 31,502,992 (GRCm39)	C66*	probably null	Het
Dnah12	T	A	14: 26,427,272 (GRCm39)		probably null	Het
Dnajb9	T	A	12: 44,253,987 (GRCm39)	H140L	probably damaging	Het
Dnase1	G	A	16: 3,857,413 (GRCm39)	V237M	probably damaging	Het
Dscam	C	A	16: 96,456,105 (GRCm39)	E1274D	probably benign	Het
Epb41	T	C	4: 131,727,572 (GRCm39)	H243R	probably damaging	Het
Fcgrt	T	A	7: 44,752,493 (GRCm39)	M1L	unknown	Het
Flii	T	C	11: 60,610,506 (GRCm39)		probably null	Het
Gen1	A	G	12: 11,298,355 (GRCm39)		probably benign	Het
Gm10447	T	C	11: 53,347,257 (GRCm39)		probably benign	Het
Gm57858	A	G	3: 36,101,054 (GRCm39)		probably benign	Het
Gm8674	A	T	13: 50,055,975 (GRCm39)		noncoding transcript	Het
Gpr137	G	C	19: 6,916,491 (GRCm39)	D253E	probably damaging	Het
Grid2ip	A	T	5: 143,343,652 (GRCm39)	D116V	probably benign	Het
Grin2c	A	G	11: 115,151,554 (GRCm39)		probably benign	Het
Havcr1	A	G	11: 46,647,051 (GRCm39)	T162A	possibly damaging	Het
Hspa1l	A	T	17: 35,196,386 (GRCm39)	T142S	probably benign	Het
Ift140	T	A	17: 25,267,409 (GRCm39)	Y602*	probably null	Het
Il18	T	A	9: 50,490,575 (GRCm39)		probably benign	Het
Ilf3	T	C	9: 21,309,266 (GRCm39)	V474A	probably damaging	Het
Inppl1	T	C	7: 101,476,664 (GRCm39)	Y771C	probably damaging	Het
Ints2	T	C	11: 86,125,575 (GRCm39)	T542A	probably benign	Het
Ipo7	T	C	7: 109,648,868 (GRCm39)	Y714H	probably benign	Het
Itgbl1	T	A	14: 124,077,997 (GRCm39)	C162*	probably null	Het
Kcp	T	C	6: 29,496,926 (GRCm39)	H561R	possibly damaging	Het
Krt23	G	T	11: 99,376,613 (GRCm39)	T181N	probably benign	Het
Lrrc40	A	T	3: 157,746,108 (GRCm39)	D61V	probably damaging	Het
Lypd4	T	A	7: 24,564,691 (GRCm39)	H149L	probably benign	Het
Map3k4	A	G	17: 12,473,058 (GRCm39)	F953L	probably damaging	Het
Mctp1	C	T	13: 76,972,982 (GRCm39)	P405S	probably damaging	Het
Mfsd2a	G	A	4: 122,845,632 (GRCm39)	T173I	possibly damaging	Het
Mtus1	T	C	8: 41,535,965 (GRCm39)	T584A	probably benign	Het
Nell2	A	G	15: 95,330,782 (GRCm39)	V213A	probably benign	Het
Nipsnap1	G	A	11: 4,839,957 (GRCm39)	G226E	probably damaging	Het
Nudt15	T	C	14: 73,760,824 (GRCm39)	Y89C	probably damaging	Het
Or10g7	T	A	9: 39,905,459 (GRCm39)	S118T	possibly damaging	Het
Or10h28	T	A	17: 33,488,109 (GRCm39)	M137K	probably damaging	Het
Or13p3	T	A	4: 118,566,808 (GRCm39)	M68K	probably benign	Het
Or7a37	T	G	10: 78,806,267 (GRCm39)	S261R	probably damaging	Het
Phf24	A	C	4: 42,933,891 (GRCm39)	E91A	probably damaging	Het
Plbd1	T	A	6: 136,618,165 (GRCm39)	N17I	possibly damaging	Het
Por	C	T	5: 135,761,438 (GRCm39)	S308L	probably benign	Het
Prmt8	T	A	6: 127,688,837 (GRCm39)	K178*	probably null	Het
Rev3l	A	G	10: 39,693,282 (GRCm39)	N454S	probably damaging	Het
Rps6ka2	T	C	17: 7,539,009 (GRCm39)	V309A	probably benign	Het
Slc15a5	A	G	6: 137,995,112 (GRCm39)		probably benign	Het
Slc30a6	G	A	17: 74,730,198 (GRCm39)	V363I	probably benign	Het
Snf8	G	A	11: 95,930,125 (GRCm39)	M42I	probably benign	Het
Stom	T	C	2: 35,215,371 (GRCm39)	I65V	probably benign	Het
Tacr3	C	T	3: 134,637,989 (GRCm39)	T382I	probably benign	Het
Tenm3	A	G	8: 48,682,010 (GRCm39)	V2540A	probably damaging	Het
Trabd	A	G	15: 88,969,816 (GRCm39)	T314A	possibly damaging	Het
Tyk2	T	C	9: 21,025,486 (GRCm39)		probably null	Het
Ube4a	T	C	9: 44,856,099 (GRCm39)		probably benign	Het
Unc80	A	G	1: 66,589,015 (GRCm39)	H1060R	possibly damaging	Het
Virma	A	T	4: 11,528,626 (GRCm39)	K1288*	probably null	Het
Vmn2r100	A	C	17: 19,751,582 (GRCm39)	I542L	probably benign	Het
Vwde	T	C	6: 13,187,806 (GRCm39)		probably benign	Het
Zfc3h1	T	C	10: 115,245,018 (GRCm39)	I797T	possibly damaging	Het
Zfp74	C	T	7: 29,653,466 (GRCm39)		probably benign	Het
Zkscan7	T	A	9: 122,717,872 (GRCm39)	L89Q	probably damaging	Het

Other mutations in Evc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01399:Evc	APN	5	37,490,357 (GRCm39)	missense	probably damaging	1.00
IGL01799:Evc	APN	5	37,482,258 (GRCm39)	missense	possibly damaging	0.46
IGL01806:Evc	APN	5	37,477,578 (GRCm39)	critical splice donor site	probably null
IGL01823:Evc	APN	5	37,485,865 (GRCm39)	missense	probably damaging	1.00
IGL02821:Evc	APN	5	37,483,740 (GRCm39)	missense	probably benign	0.01
R0312:Evc	UTSW	5	37,485,885 (GRCm39)	missense	possibly damaging	0.83
R0741:Evc	UTSW	5	37,483,739 (GRCm39)	missense	possibly damaging	0.51
R0745:Evc	UTSW	5	37,476,403 (GRCm39)	missense	probably damaging	0.99
R1498:Evc	UTSW	5	37,481,044 (GRCm39)	missense	possibly damaging	0.66
R1517:Evc	UTSW	5	37,476,379 (GRCm39)	missense	probably damaging	1.00
R2680:Evc	UTSW	5	37,467,581 (GRCm39)	missense	probably benign
R2867:Evc	UTSW	5	37,473,619 (GRCm39)	intron	probably benign
R4585:Evc	UTSW	5	37,481,057 (GRCm39)	missense	probably damaging	0.96
R4586:Evc	UTSW	5	37,481,057 (GRCm39)	missense	probably damaging	0.96
R4731:Evc	UTSW	5	37,481,141 (GRCm39)	missense	probably benign	0.38
R4859:Evc	UTSW	5	37,458,253 (GRCm39)	missense	probably damaging	0.96
R4963:Evc	UTSW	5	37,479,393 (GRCm39)	critical splice donor site	probably null
R5536:Evc	UTSW	5	37,483,927 (GRCm39)	splice site	probably benign
R5693:Evc	UTSW	5	37,477,584 (GRCm39)	missense	possibly damaging	0.46
R5781:Evc	UTSW	5	37,483,914 (GRCm39)	missense	probably damaging	1.00
R6251:Evc	UTSW	5	37,457,843 (GRCm39)	missense	probably benign
R7061:Evc	UTSW	5	37,476,446 (GRCm39)	missense	possibly damaging	0.66
R7286:Evc	UTSW	5	37,479,527 (GRCm39)	nonsense	probably null
R7503:Evc	UTSW	5	37,458,111 (GRCm39)	missense	unknown
R7831:Evc	UTSW	5	37,476,427 (GRCm39)	missense	probably damaging	1.00
R8344:Evc	UTSW	5	37,471,872 (GRCm39)	missense	possibly damaging	0.90
R8853:Evc	UTSW	5	37,460,647 (GRCm39)	missense	possibly damaging	0.66
R9222:Evc	UTSW	5	37,477,650 (GRCm39)	missense	probably benign	0.04
R9396:Evc	UTSW	5	37,476,434 (GRCm39)	missense	possibly damaging	0.66
R9583:Evc	UTSW	5	37,473,701 (GRCm39)	nonsense	probably null
R9650:Evc	UTSW	5	37,458,162 (GRCm39)	missense	probably damaging	0.96
X0012:Evc	UTSW	5	37,458,073 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- AACGTCCCAGTTTCCAGCACAG -3'
(R):5'- GTGCAATTTCTGCTTGAACTCTGCC -3'

Sequencing Primer
(F):5'- cctgaatgtgagccactcc -3'
(R):5'- TGCCCATGTTCTAACTACAGG -3'

Posted On

2013-04-24