Mutagenetix > Incidental Mutation

Incidental Mutation 'R4963:Evc'

383708

Institutional Source

Beutler Lab

Gene Symbol

Evc

Ensembl Gene

ENSMUSG00000029122

Gene Name

EvC ciliary complex subunit 1

Synonyms

MMRRC Submission

042560-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.231) question?

Stock #

R4963 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37289098-37336894 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 37322049 bp (GRCm38)

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 null
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 null
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 null
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: ENSMUST00000154885

Meta Mutation Damage Score

0.9571

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

97% (74/76)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	A	T	17: 48,163,414	I133N	probably benign	Het
Abca15	T	C	7: 120,360,919	S642P	probably damaging	Het
Abcg5	G	T	17: 84,660,141	Y410*	probably null	Het
Anapc7	T	A	5: 122,422,606	M10K	probably damaging	Het
Ank2	G	A	3: 127,032,096	T418M	probably benign	Het
Arhgap17	T	C	7: 123,308,360	R260G	possibly damaging	Het
Atp1a3	T	C	7: 24,994,626	T381A	probably damaging	Het
Cep89	T	G	7: 35,403,152	S97A	probably benign	Het
Cyp2j11	T	C	4: 96,316,382	D309G	probably damaging	Het
Dcbld2	T	C	16: 58,465,782	I768T	probably benign	Het
Dgke	A	G	11: 89,050,802	V249A	possibly damaging	Het
Dnah9	T	C	11: 66,084,611		probably null	Het
Dnajc3	C	A	14: 118,978,173	H502N	probably benign	Het
Dsp	A	G	13: 38,197,870	T2265A	probably damaging	Het
Enpp6	A	G	8: 47,065,461	D208G	probably benign	Het
Fam98a	A	G	17: 75,538,982	S285P	probably damaging	Het
Glp2r	G	T	11: 67,757,593	Y94*	probably null	Het
Gm15293	C	T	8: 21,201,758	S52F	probably damaging	Het
Gsdmc	A	G	15: 63,804,380		probably null	Het
Gtpbp4	C	A	13: 8,985,217	D369Y	probably damaging	Het
H2-M1	A	G	17: 36,671,738	Y77H	probably benign	Het
Irx2	T	C	13: 72,632,610	V466A	possibly damaging	Het
Kcnh4	C	A	11: 100,752,253	W396L	probably damaging	Het
Kif27	T	C	13: 58,328,994	D614G	possibly damaging	Het
Kirrel2	C	A	7: 30,450,801		probably null	Het
Lcn5	A	G	2: 25,661,414	I182V	probably benign	Het
Ldb3	T	G	14: 34,566,858	S252R	probably damaging	Het
March8	G	A	6: 116,386,271		probably benign	Het
Mdn1	C	A	4: 32,756,512	Q4735K	probably benign	Het
Mfrp	A	T	9: 44,103,264	H236L	probably benign	Het
Mlph	A	G	1: 90,939,390	D378G	probably damaging	Het
Msi1	T	A	5: 115,450,885	Y320N	probably damaging	Het
Mtmr11	T	C	3: 96,163,250		probably benign	Het
Mtpap	T	C	18: 4,375,638	V6A	probably benign	Het
Nedd1	C	A	10: 92,695,031	D399Y	probably damaging	Het
Ninl	A	G	2: 150,939,909	Y234H	probably benign	Het
Nkx3-1	G	A	14: 69,190,918	G72S	probably benign	Het
Nle1	A	G	11: 82,904,937	V228A	probably benign	Het
Npy4r	T	A	14: 34,147,016	D105V	probably damaging	Het
Olfr1366	A	G	13: 21,537,982	Y8H	probably damaging	Het
Palld	C	T	8: 61,703,210	V464M	probably damaging	Het
Pclo	T	C	5: 14,669,221	V1124A	unknown	Het
Pex1	T	A	5: 3,609,924	M476K	probably benign	Het
Pkhd1l1	G	A	15: 44,504,025	S773N	probably benign	Het
Polrmt	A	G	10: 79,746,551	M1T	probably null	Het
Prmt9	A	G	8: 77,555,729	D85G	probably damaging	Het
Ptpn12	T	A	5: 21,015,708		probably null	Het
Rbm19	T	A	5: 120,141,566	M766K	probably damaging	Het
Rdh11	A	G	12: 79,188,606	V72A	probably benign	Het
Rxfp3	A	G	15: 11,036,281	V335A	probably damaging	Het
Sema6a	T	C	18: 47,298,251	K127E	possibly damaging	Het
Slc5a1	C	T	5: 33,160,782	T593I	probably benign	Het
Slco1a1	A	G	6: 141,923,099	F380L	probably benign	Het
Smc2	T	C	4: 52,450,826	S215P	probably damaging	Het
Smyd2	A	T	1: 189,882,188	V381E	probably damaging	Het
Smyd4	C	T	11: 75,382,294	S60L	probably benign	Het
Spata18	T	A	5: 73,678,993	V419E	probably damaging	Het
Terb1	A	G	8: 104,482,318	L376S	probably damaging	Het
Timd2	T	C	11: 46,682,790	E129G	possibly damaging	Het
Topbp1	C	A	9: 103,320,605	T461K	probably benign	Het
Tpp2	G	A	1: 43,992,268	R1069Q	probably damaging	Het
Ttn	A	G	2: 76,753,945	V22273A	probably damaging	Het
Tulp4	G	A	17: 6,198,813	E36K	probably damaging	Het
Uqcrfs1	A	T	13: 30,540,763	F265I	probably damaging	Het
Vmn2r107	A	T	17: 20,375,141	Q652L	probably damaging	Het
Vwf	C	T	6: 125,667,483	R2434*	probably null	Het
Wdhd1	A	G	14: 47,268,689	V256A	possibly damaging	Het
Zfp442	A	T	2: 150,408,495	C439S	probably damaging	Het
Zfp709	A	G	8: 71,889,788	T354A	probably benign	Het
Zswim2	A	T	2: 83,925,110	I149N	probably damaging	Het

Other mutations in Evc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01399:Evc	APN	5	37333013	missense	probably damaging	1.00
IGL01799:Evc	APN	5	37324914	missense	possibly damaging	0.46
IGL01806:Evc	APN	5	37320234	critical splice donor site	probably null
IGL01823:Evc	APN	5	37328521	missense	probably damaging	1.00
IGL02821:Evc	APN	5	37326396	missense	probably benign	0.01
R0312:Evc	UTSW	5	37328541	missense	possibly damaging	0.83
R0355:Evc	UTSW	5	37316312	splice site	probably benign
R0741:Evc	UTSW	5	37326395	missense	possibly damaging	0.51
R0745:Evc	UTSW	5	37319059	missense	probably damaging	0.99
R1498:Evc	UTSW	5	37323700	missense	possibly damaging	0.66
R1517:Evc	UTSW	5	37319035	missense	probably damaging	1.00
R2680:Evc	UTSW	5	37310237	missense	probably benign
R2867:Evc	UTSW	5	37316275	intron	probably benign
R4585:Evc	UTSW	5	37323713	missense	probably damaging	0.96
R4586:Evc	UTSW	5	37323713	missense	probably damaging	0.96
R4731:Evc	UTSW	5	37323797	missense	probably benign	0.38
R4859:Evc	UTSW	5	37300909	missense	probably damaging	0.96
R5536:Evc	UTSW	5	37326583	splice site	probably benign
R5693:Evc	UTSW	5	37320240	missense	possibly damaging	0.46
R5781:Evc	UTSW	5	37326570	missense	probably damaging	1.00
R6251:Evc	UTSW	5	37300499	missense	probably benign
R7061:Evc	UTSW	5	37319102	missense	possibly damaging	0.66
R7286:Evc	UTSW	5	37322183	nonsense	probably null
R7503:Evc	UTSW	5	37300767	missense	unknown
R7831:Evc	UTSW	5	37319083	missense	probably damaging	1.00
R8344:Evc	UTSW	5	37314528	missense	possibly damaging	0.90
R8853:Evc	UTSW	5	37303303	missense	possibly damaging	0.66
R9222:Evc	UTSW	5	37320306	missense	probably benign	0.04
R9396:Evc	UTSW	5	37319090	missense	possibly damaging	0.66
R9583:Evc	UTSW	5	37316357	nonsense	probably null
R9650:Evc	UTSW	5	37300818	missense	probably damaging	0.96
X0012:Evc	UTSW	5	37300729	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- GCTTCCAGGGATGAAAGCAG -3'
(R):5'- TGTGCCAAGAACATCTCACAAG -3'

Sequencing Primer
(F):5'- GCAGCAGGCTAAAAATGTAAATG -3'
(R):5'- ATTCTTCTGGGATTTGAGTTTTACTG -3'

Posted On

2016-04-27