Mutagenetix > Incidental Mutation

Incidental Mutation 'R4586:Evc'

344096

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

041807-MU

Accession Numbers

Essential gene?

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

Stock #

R4586 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37446442-37494238 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37481057 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 263 (S263P)

Ref Sequence

ENSEMBL: ENSMUSP00000109785 (fasta)

Gene Model

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

AlphaFold

P57680

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031005
AA Change: S263P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000031005
Gene: ENSMUSG00000029122
AA Change: S263P

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: S263P

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000109785
Gene: ENSMUSG00000029122
AA Change: S263P

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

possibly damaging
Transcript: ENSMUST00000114154
AA Change: S86P

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000109791
Gene: ENSMUSG00000029122
AA Change: S86P

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: ENSMUST00000133376

Meta Mutation Damage Score

0.1036

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (96/96)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	T	C	5: 4,026,151 (GRCm39)	S1269P	probably benign	Het
Aqr	T	C	2: 113,943,058 (GRCm39)	T1172A	probably benign	Het
Art2a	A	T	7: 101,203,956 (GRCm39)	L194*	probably null	Het
Atrn	T	C	2: 130,823,962 (GRCm39)	F967S	probably damaging	Het
Btnl1	A	G	17: 34,601,436 (GRCm39)	D323G	probably damaging	Het
Cadps	C	A	14: 12,505,808 (GRCm38)	C754F	probably damaging	Het
Catspere2	A	G	1: 177,950,351 (GRCm39)	D734G	possibly damaging	Het
Ccdc7b	A	G	8: 129,837,401 (GRCm39)	T131A	probably benign	Het
Cfap298	A	T	16: 90,724,314 (GRCm39)	V136D	probably damaging	Het
Cic	A	T	7: 24,972,203 (GRCm39)	I645L	probably benign	Het
Clca3a1	C	A	3: 144,722,619 (GRCm39)	C251F	probably damaging	Het
Cldn16	A	T	16: 26,296,308 (GRCm39)	T95S	probably benign	Het
Cntnap4	C	T	8: 113,537,342 (GRCm39)	H738Y	probably benign	Het
Col8a2	A	T	4: 126,204,812 (GRCm39)		probably benign	Het
Corin	A	T	5: 72,487,042 (GRCm39)	V706D	probably damaging	Het
Cuzd1	G	A	7: 130,916,529 (GRCm39)	P310L	probably damaging	Het
Cyp4a12a	T	C	4: 115,184,509 (GRCm39)	F295L	probably benign	Het
Cyp4a12b	T	G	4: 115,289,703 (GRCm39)	M190R	probably damaging	Het
Dagla	A	G	19: 10,248,373 (GRCm39)	Y96H	probably damaging	Het
Dapp1	T	C	3: 137,644,932 (GRCm39)	Q148R	probably benign	Het
Dcaf17	T	A	2: 70,918,924 (GRCm39)	S499R	probably benign	Het
Ddx27	T	A	2: 166,861,904 (GRCm39)	D135E	probably benign	Het
Defb3	A	T	8: 19,345,172 (GRCm39)	I43F	possibly damaging	Het
Dnajc10	T	G	2: 80,178,122 (GRCm39)	F710V	probably damaging	Het
Dnhd1	T	C	7: 105,327,256 (GRCm39)	L735P	probably damaging	Het
Dnmt1	G	A	9: 20,837,989 (GRCm39)	P242S	probably benign	Het
Dync1h1	G	A	12: 110,615,917 (GRCm39)	D3022N	probably benign	Het
Ep400	G	A	5: 110,901,725 (GRCm39)	T464I	probably damaging	Het
Epc1	T	C	18: 6,449,138 (GRCm39)	N453S	possibly damaging	Het
Eral1	A	T	11: 77,969,130 (GRCm39)	N123K	probably damaging	Het
Ercc5	G	A	1: 44,198,017 (GRCm39)	V145I	probably benign	Het
Fancc	A	T	13: 63,495,378 (GRCm39)	M182K	probably benign	Het
Fbxl3	G	T	14: 103,320,526 (GRCm39)	A355E	probably damaging	Het
Fig4	A	C	10: 41,064,628 (GRCm39)	S872A	probably damaging	Het
Gm14393	C	A	2: 174,904,497 (GRCm39)		probably benign	Het
Gm27013	A	T	6: 130,498,003 (GRCm39)		noncoding transcript	Het
Gprc5a	T	A	6: 135,060,450 (GRCm39)	M313K	probably benign	Het
H2ac15	T	C	13: 21,937,882 (GRCm39)	N39S	possibly damaging	Het
H2-T3	T	C	17: 36,500,236 (GRCm39)		probably null	Het
Hap1	G	A	11: 100,245,550 (GRCm39)	T138M	probably benign	Het
Hook3	T	G	8: 26,522,039 (GRCm39)	K679T	probably damaging	Het
Ints2	G	T	11: 86,140,101 (GRCm39)	R244S	probably damaging	Het
Itgb4	T	C	11: 115,884,151 (GRCm39)	V945A	probably damaging	Het
Itih2	C	T	2: 10,115,211 (GRCm39)	S387N	probably benign	Het
Jmjd7	T	A	2: 119,862,649 (GRCm39)	M306K	probably benign	Het
Klra2	T	A	6: 131,207,120 (GRCm39)	D163V	probably benign	Het
Kmo	T	A	1: 175,478,138 (GRCm39)	M208K	probably damaging	Het
Kmo	G	T	1: 175,478,139 (GRCm39)	M208I	possibly damaging	Het
Masp2	A	G	4: 148,698,358 (GRCm39)	T480A	probably damaging	Het
Mogs	G	T	6: 83,095,619 (GRCm39)	R812L	possibly damaging	Het
Mrpl43	A	G	19: 44,994,328 (GRCm39)	I97T	possibly damaging	Het
Myoz1	A	G	14: 20,700,663 (GRCm39)	W185R	probably damaging	Het
Ncam2	T	A	16: 81,262,457 (GRCm39)	H303Q	probably benign	Het
Ntaq1	A	T	15: 58,011,740 (GRCm39)	I34F	probably damaging	Het
Nufip2	T	C	11: 77,632,554 (GRCm39)	V690A	unknown	Het
Obox1	A	T	7: 15,290,152 (GRCm39)	N165I	possibly damaging	Het
Or1j1	C	T	2: 36,702,537 (GRCm39)	C189Y	probably damaging	Het
Or4b1d	T	A	2: 89,968,558 (GRCm39)	E308D	probably benign	Het
Or4c113	T	G	2: 88,885,498 (GRCm39)	I91L	possibly damaging	Het
Or6c35	A	G	10: 129,169,142 (GRCm39)	T131A	probably benign	Het
Pex1	A	G	5: 3,683,885 (GRCm39)	Y1127C	probably damaging	Het
Pno1	T	C	11: 17,161,438 (GRCm39)	K24E	probably benign	Het
Qdpr	T	A	5: 45,596,669 (GRCm39)	N165I	possibly damaging	Het
Robo2	A	G	16: 73,758,761 (GRCm39)	V674A	probably damaging	Het
Runx1t1	A	T	4: 13,889,864 (GRCm39)	T598S	unknown	Het
Samd11	A	G	4: 156,333,889 (GRCm39)	L174P	probably damaging	Het
Scn2a	T	A	2: 65,573,395 (GRCm39)		probably null	Het
Slc4a1	G	T	11: 102,252,245 (GRCm39)		probably benign	Het
Snx25	A	T	8: 46,569,474 (GRCm39)		probably benign	Het
Sox2	A	G	3: 34,705,193 (GRCm39)	N210S	probably benign	Het
Spag6	T	C	2: 18,736,958 (GRCm39)		probably null	Het
Speer4b	A	T	5: 27,703,036 (GRCm39)	L154Q	probably null	Het
Stt3a	T	A	9: 36,653,089 (GRCm39)	Q531L	probably damaging	Het
Tcl1	A	C	12: 105,183,767 (GRCm39)		probably benign	Het
Trip11	A	T	12: 101,849,600 (GRCm39)	M1488K	possibly damaging	Het
Ttn	T	C	2: 76,798,747 (GRCm39)	H509R	probably benign	Het
Ulk3	C	T	9: 57,501,593 (GRCm39)	L425F	possibly damaging	Het
Vmn1r238	T	A	18: 3,123,294 (GRCm39)	K40M	probably damaging	Het
Vopp1	G	A	6: 57,731,533 (GRCm39)	P153S	probably damaging	Het
Zbtb42	C	T	12: 112,646,976 (GRCm39)	R384W	probably damaging	Het
Zfp14	G	T	7: 29,738,341 (GRCm39)	Q215K	probably damaging	Het
Zfp473	A	T	7: 44,382,376 (GRCm39)	Y651*	probably null	Het
Zfp735	G	T	11: 73,580,550 (GRCm39)	E16D	possibly damaging	Het
Zfp846	G	T	9: 20,504,809 (GRCm39)	C223F	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
R0355:Evc	UTSW	5	37,473,656 (GRCm39)	splice site	probably benign
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
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'- GCACAAGTGTCCTCTTTACATATGC -3'
(R):5'- ATCCAGAACAGCCCGTTGTC -3'

Sequencing Primer
(F):5'- GCACATACACTTTCACAAGTTGTC -3'
(R):5'- CAGCCCGTTGTCATGATATATAATC -3'

Posted On

2015-09-24