Mutagenetix > Incidental Mutation

Incidental Mutation 'R7831:Evc'

605607

Institutional Source

Beutler Lab

Gene Symbol

Evc

Ensembl Gene

ENSMUSG00000029122

Gene Name

EvC ciliary complex subunit 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.270) question?

Stock #

R7831 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37289098-37336894 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37319083 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 374 (G374D)

Ref Sequence

ENSEMBL: ENSMUSP00000031005 (fasta)

Gene Model

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

AlphaFold

P57680

Predicted Effect

probably damaging
Transcript: ENSMUST00000031005
AA Change: G374D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000031005
Gene: ENSMUSG00000029122
AA Change: G374D

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 damaging
Transcript: ENSMUST00000114148
AA Change: G374D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000109785
Gene: ENSMUSG00000029122
AA Change: G374D

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 damaging
Transcript: ENSMUST00000114154
AA Change: G197D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109791
Gene: ENSMUSG00000029122
AA Change: G197D

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

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (87/87)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	A	11: 9,297,404	V2384I	possibly damaging	Het
Acsl1	A	G	8: 46,519,006	D297G	probably benign	Het
Ap2a1	C	A	7: 44,901,012	R944L	probably damaging	Het
Apbb1ip	A	G	2: 22,866,921	Y398C	probably damaging	Het
Atp8a2	A	T	14: 59,773,753	V968D	probably damaging	Het
Becn1	T	C	11: 101,290,453	T341A	probably benign	Het
Card11	G	T	5: 140,873,412	S1126R	possibly damaging	Het
Ccdc51	T	C	9: 109,091,990	L315S	probably damaging	Het
Cdk12	T	C	11: 98,249,827	L1298P	unknown	Het
Cep170b	A	T	12: 112,744,800	D1538V	probably benign	Het
Cfap52	A	T	11: 67,935,956	F348I	possibly damaging	Het
Clip1	A	T	5: 123,613,279	M813K		Het
Col19a1	G	A	1: 24,526,482	T256I	unknown	Het
Col6a3	A	T	1: 90,796,546	C2027*	probably null	Het
Crisp4	A	T	1: 18,128,789	N140K	probably benign	Het
Crocc2	G	T	1: 93,215,473	A1266S	probably benign	Het
Cyfip2	G	A	11: 46,196,446	R1206C	probably damaging	Het
Cyp24a1	T	A	2: 170,485,940	M461L	probably damaging	Het
Cyp2a5	C	T	7: 26,835,515	T51I	possibly damaging	Het
Cyp2b19	C	T	7: 26,767,140	H398Y	possibly damaging	Het
Cyp4a29	G	A	4: 115,250,170	V234I	probably benign	Het
Dicer1	T	G	12: 104,708,800	K734N	probably damaging	Het
Dnaic1	T	C	4: 41,614,695		probably null	Het
Entpd3	G	A	9: 120,543,959	G14D	probably damaging	Het
Ermp1	T	C	19: 29,617,967	T634A	probably benign	Het
Fam189b	G	A	3: 89,184,213		probably null	Het
Fcgbp	C	A	7: 28,106,979	T2124K	probably damaging	Het
Fgf8	G	A	19: 45,742,437	P50S	probably benign	Het
Fmnl1	C	T	11: 103,198,173	R1074W	unknown	Het
Galnt18	C	T	7: 111,556,458	V223M	possibly damaging	Het
Galnt2	A	G	8: 124,332,078	N295S	probably benign	Het
Gm9573	T	A	17: 35,618,759	T1512S	unknown	Het
Grip1	T	G	10: 120,018,106	V600G	probably damaging	Het
Insm2	T	A	12: 55,600,538	C356S	probably damaging	Het
Itpr2	T	A	6: 146,291,584	I1672F	probably benign	Het
Kdm1b	T	G	13: 47,050,622	N76K	probably benign	Het
Khnyn	T	A	14: 55,887,846		probably null	Het
Kidins220	C	T	12: 25,061,231	A1167V	possibly damaging	Het
Krt40	T	C	11: 99,541,261	D208G	probably benign	Het
Lars	T	A	18: 42,217,562	D894V	probably benign	Het
Lmx1a	A	T	1: 167,840,952	N266I	probably benign	Het
Mrgprb5	T	A	7: 48,168,249	K246M	probably benign	Het
Mrpl2	G	A	17: 46,648,672	G176R	possibly damaging	Het
Nell1	T	A	7: 49,982,800	F60L	possibly damaging	Het
Nnt	G	A	13: 119,370,094	A453V	possibly damaging	Het
Olfr366	C	T	2: 37,219,711	T74I	probably damaging	Het
Olfr398	A	C	11: 73,984,431	M59R	probably damaging	Het
Olfr697	T	A	7: 106,741,413	I174F	probably damaging	Het
Opa1	A	G	16: 29,648,937	K940R	probably benign	Het
Opn5	A	C	17: 42,580,619	I309S	probably null	Het
P3h3	T	G	6: 124,855,155	E256A	possibly damaging	Het
Pald1	G	T	10: 61,355,814	T65K	probably damaging	Het
Pcnx3	T	C	19: 5,685,961	Y279C	probably damaging	Het
Pik3c2b	G	A	1: 133,071,242	S367N	possibly damaging	Het
Pik3cb	T	C	9: 99,088,613	T342A	probably benign	Het
Pkd1l3	A	T	8: 109,631,358	E837D	possibly damaging	Het
Ppp2r2b	T	A	18: 42,701,532	Y191F	probably benign	Het
Ppp4r4	G	A	12: 103,590,821	E439K	possibly damaging	Het
Pqlc3	T	A	12: 16,997,631		probably null	Het
Ptprk	A	G	10: 28,568,408	I946V	possibly damaging	Het
Ror1	A	G	4: 100,441,098	N556S	probably benign	Het
Ryr3	C	T	2: 112,926,838	A391T	possibly damaging	Het
Selp	G	A	1: 164,145,015		probably null	Het
Setx	T	C	2: 29,157,108	L1866S	probably damaging	Het
Setx	T	A	2: 29,179,854	V2557E	possibly damaging	Het
Slit2	A	G	5: 48,244,683	T805A	probably benign	Het
Sorbs3	T	G	14: 70,203,032	N89T	possibly damaging	Het
Sorl1	C	A	9: 42,089,961	V248L	probably benign	Het
Srebf2	T	A	15: 82,182,087	V612E	probably damaging	Het
Sv2c	T	A	13: 95,976,692	Y583F	probably damaging	Het
Tada1	G	T	1: 166,389,873	R193I	probably damaging	Het
Tnrc6b	C	G	15: 80,880,379	A694G	possibly damaging	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,399,157		probably null	Het
Ttn	C	T	2: 76,881,081	G8372D	unknown	Het
Ube2g2	A	G	10: 77,634,742	T68A		Het
Ubl7	T	G	9: 57,914,635	V89G	possibly damaging	Het
Ush2a	T	A	1: 188,759,841	I3109N	probably damaging	Het
Utp20	T	A	10: 88,762,770	K115*	probably null	Het
Vmn2r26	T	A	6: 124,039,799	Y407*	probably null	Het
Yod1	G	T	1: 130,719,249	V288F	probably damaging	Het
Zbed5	A	C	5: 129,901,957	N249T	possibly damaging	Het
Zbtb5	T	C	4: 44,995,244	T47A	probably damaging	Het
Zcchc14	T	C	8: 121,605,245	T460A	not run	Het
Zfp712	A	C	13: 67,052,419		probably null	Het
Zfyve16	A	T	13: 92,522,328	H358Q	probably benign	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
R4963:Evc	UTSW	5	37322049	critical splice donor site	probably null
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
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'- GGCTCATAGGATTCCAGGTC -3'
(R):5'- GGCATTCACTGTGCTTGGAATG -3'

Sequencing Primer
(F):5'- TGCCAAAACGCTCTGCCTC -3'
(R):5'- CATTCACTGTGCTTGGAATGAAGTG -3'

Posted On

2019-12-20