Mutagenetix > Incidental Mutation

Incidental Mutation 'R7503:Evc'

581614

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 #

R7503 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37289098-37336894 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37300767 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 803 (K803R)

Ref Sequence

ENSEMBL: ENSMUSP00000109791 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031005] [ENSMUST00000114154] [ENSMUST00000146568]

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

unknown
Transcript: ENSMUST00000114154
AA Change: K803R

SMART Domains

Protein: ENSMUSP00000109791
Gene: ENSMUSG00000029122
AA Change: K803R

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

SMART Domains

Protein: ENSMUSP00000120191
Gene: ENSMUSG00000029122
AA Change: K71R

Domain	Start	End	E-Value	Type
low complexity region	19	36	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146568

SMART Domains

Protein: ENSMUSP00000114825
Gene: ENSMUSG00000029122

Domain	Start	End	E-Value	Type
coiled coil region	23	63	N/A	INTRINSIC
low complexity region	79	96	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (63/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730559C18Rik	T	C	1: 136,215,937	D587G	possibly damaging	Het
A230072I06Rik	G	A	8: 12,279,554	G3D	unknown	Het
Aif1	A	T	17: 35,171,573	I67N	probably damaging	Het
Akap11	T	C	14: 78,512,001	D982G		Het
Anpep	A	G	7: 79,826,637	L827P	probably damaging	Het
Arhgef5	A	T	6: 43,273,999	K561N	probably benign	Het
Arsj	T	C	3: 126,364,844	F24S	probably benign	Het
Bard1	T	C	1: 71,030,836	D661G	probably damaging	Het
Cc2d2b	A	G	19: 40,794,612	I618V	unknown	Het
Cfap54	T	A	10: 92,887,436		probably null	Het
Cfhr2	T	A	1: 139,831,214	I33F	probably damaging	Het
Dsc1	G	A	18: 20,085,865	H827Y	probably damaging	Het
Eif3i	C	T	4: 129,600,414	D31N	probably damaging	Het
Eno1b	A	T	18: 48,046,811	T19S	probably damaging	Het
Eva1a	G	A	6: 82,071,229	W29*	probably null	Het
F5	T	A	1: 164,192,210	N751K	probably damaging	Het
Fam120a	A	T	13: 48,949,247	N177K	probably benign	Het
Farp2	T	G	1: 93,567,497	I164R	probably benign	Het
Gm20379	C	T	13: 92,306,057	P26L		Het
Gm4778	A	T	3: 94,266,473	M259L	probably benign	Het
Hmgcs2	T	C	3: 98,302,624	S433P	probably damaging	Het
Ints2	T	C	11: 86,232,055	T633A	probably benign	Het
Invs	C	T	4: 48,396,347	T340M	probably damaging	Het
Mef2c	A	C	13: 83,662,504	D391A	possibly damaging	Het
Msh4	A	C	3: 153,867,750	S756A	probably damaging	Het
Mylk3	T	C	8: 85,353,589	T490A	probably benign	Het
Myo1b	A	T	1: 51,776,602		probably null	Het
Nsmce1	A	G	7: 125,471,934	S107P	probably benign	Het
Olfr1173	T	C	2: 88,274,695	Y118C	probably damaging	Het
Olfr628	T	A	7: 103,732,267	S114T	probably damaging	Het
Pcdhb21	G	A	18: 37,514,975	D386N	probably benign	Het
Pcdhb22	T	G	18: 37,519,102	L208V	probably benign	Het
Pigu	C	T	2: 155,331,144		probably null	Het
Plcz1	T	A	6: 139,990,748	E585V	probably damaging	Het
Pnpla7	C	A	2: 24,983,532	C183*	probably null	Het
Pomgnt1	T	C	4: 116,152,752	V133A	possibly damaging	Het
Prl3d3	A	G	13: 27,161,113	Y156C	probably benign	Het
Prpf39	A	G	12: 65,053,393	D280G	probably benign	Het
Recql5	C	A	11: 115,895,055	A631S	probably benign	Het
Runx3	C	A	4: 135,155,368	N138K	probably damaging	Het
Scaper	T	C	9: 55,807,754	D750G	probably damaging	Het
Slc16a3	T	C	11: 120,957,027	L347P	probably damaging	Het
Slc25a1	G	T	16: 17,926,439	Y209*	probably null	Het
Smad2	A	G	18: 76,286,885	S88G	probably benign	Het
Sorcs1	A	G	19: 50,153,052	C1125R	probably benign	Het
Spata21	T	A	4: 141,095,303	I140N	probably benign	Het
Speer3	A	T	5: 13,793,334	D85V	probably benign	Het
Stra6	A	G	9: 58,151,245	N463S	possibly damaging	Het
Tmem14a	T	G	1: 21,229,399		probably null	Het
Tsc1	T	A	2: 28,687,076	L1130Q	possibly damaging	Het
Ttn	T	C	2: 76,781,057	D17377G	possibly damaging	Het
Utf1	A	G	7: 139,944,133	D87G	probably damaging	Het
Vmn2r6	G	A	3: 64,539,951	Q565*	probably null	Het
Vmn2r63	A	T	7: 42,933,590	M67K	probably benign	Het
Vmn2r90	T	C	17: 17,713,248	Y357H	not run	Het
Vmn2r97	A	G	17: 18,928,208	T122A	probably benign	Het
Wdhd1	T	C	14: 47,250,791	E753G	probably benign	Het
Wdr11	A	G	7: 129,603,110	N213S	probably benign	Het
Wdr66	G	T	5: 123,297,458	E994*	probably null	Het
Xdh	A	C	17: 73,926,210	D207E	probably damaging	Het
Zfp281	T	A	1: 136,626,940	I552N	possibly damaging	Het
Zzef1	T	A	11: 72,826,067	I361K	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
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
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'- CCCAGTGCCAGAGGATAATG -3'
(R):5'- AGGAAGTGCCATCTAAAGTCG -3'

Sequencing Primer
(F):5'- TAATGGCTCAGTTGACCCAG -3'
(R):5'- TCTAAAGTCGTGAAGCCATCCTGG -3'

Posted On

2019-10-17