Mutagenetix > Incidental Mutation

Incidental Mutation 'R0312:Evc'

25266

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

038522-MU

Accession Numbers

Essential gene?

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

Stock #

R0312 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37446442-37494238 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37485885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 97 (C97Y)

Ref Sequence

ENSEMBL: ENSMUSP00000031005 (fasta)

Gene Model

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

AlphaFold

P57680

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031005
AA Change: C97Y

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

SMART Domains

Protein: ENSMUSP00000031005
Gene: ENSMUSG00000029122
AA Change: C97Y

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
AA Change: C97Y

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000109785
Gene: ENSMUSG00000029122
AA Change: C97Y

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: ENSMUST00000133376

Meta Mutation Damage Score

0.0702

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.3%
20x: 90.3%

Validation Efficiency

100% (60/60)

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
Abcb5	G	T	12: 118,836,572 (GRCm39)	A1113D	probably damaging	Het
Adcy1	G	T	11: 7,099,538 (GRCm39)	A673S	probably benign	Het
Apob	T	A	12: 8,059,034 (GRCm39)	H2505Q	probably benign	Het
Arhgap12	A	G	18: 6,061,982 (GRCm39)		probably benign	Het
Bcl9	C	T	3: 97,116,727 (GRCm39)	E656K	probably benign	Het
Bnc1	C	T	7: 81,627,072 (GRCm39)	R106H	possibly damaging	Het
Ccdc54	T	C	16: 50,411,165 (GRCm39)	K34E	possibly damaging	Het
Cfap65	G	A	1: 74,943,226 (GRCm39)	R1600W	probably damaging	Het
Csmd1	A	T	8: 16,034,760 (GRCm39)	N2470K	probably damaging	Het
Cspp1	T	C	1: 10,129,054 (GRCm39)		probably benign	Het
Dgkz	A	T	2: 91,768,684 (GRCm39)	I699N	probably damaging	Het
Dhx40	G	A	11: 86,662,775 (GRCm39)	T639I	probably damaging	Het
Dlg1	A	G	16: 31,609,085 (GRCm39)	T227A	probably benign	Het
Dnah10	G	A	5: 124,873,433 (GRCm39)		probably benign	Het
Dnah3	T	A	7: 119,644,882 (GRCm39)	K1133M	probably damaging	Het
Dock5	G	C	14: 68,033,440 (GRCm39)	F976L	possibly damaging	Het
Fbxw7	T	C	3: 84,874,876 (GRCm39)		probably benign	Het
Fggy	A	C	4: 95,732,422 (GRCm39)	D112A	probably damaging	Het
Fpgs	A	G	2: 32,574,813 (GRCm39)	Y435H	probably damaging	Het
Fryl	T	A	5: 73,230,231 (GRCm39)	H1642L	probably damaging	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gda	T	A	19: 21,394,369 (GRCm39)	I237F	probably damaging	Het
Glt1d1	A	G	5: 127,768,134 (GRCm39)	N247S	probably damaging	Het
Gm7647	T	C	5: 95,110,839 (GRCm39)	S7P	probably benign	Het
Gpr31b	C	T	17: 13,270,498 (GRCm39)	V224I	probably damaging	Het
Hlf	G	A	11: 90,278,701 (GRCm39)	P121L	possibly damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ism1	G	T	2: 139,520,592 (GRCm39)	M1I	probably null	Het
Kansl1l	T	C	1: 66,817,265 (GRCm39)	N365S	probably null	Het
Lama1	T	C	17: 68,082,846 (GRCm39)	L1368P	possibly damaging	Het
Lima1	A	G	15: 99,678,968 (GRCm39)	V491A	possibly damaging	Het
Lrch1	G	T	14: 75,185,034 (GRCm39)	H23N	possibly damaging	Het
Lrp1b	A	G	2: 41,172,183 (GRCm39)	V1488A	probably damaging	Het
Lrp8	T	C	4: 107,664,052 (GRCm39)		probably benign	Het
Lrrc8e	A	G	8: 4,285,733 (GRCm39)	S653G	probably benign	Het
Mnat1	A	G	12: 73,228,558 (GRCm39)	T141A	possibly damaging	Het
Mpeg1	C	A	19: 12,439,767 (GRCm39)	N408K	probably damaging	Het
Myo7b	T	C	18: 32,147,390 (GRCm39)	E51G	possibly damaging	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Naa35	A	G	13: 59,757,395 (GRCm39)	T257A	probably benign	Het
Obox5	T	A	7: 15,491,485 (GRCm39)	H8Q	probably damaging	Het
Or1j4	A	T	2: 36,740,372 (GRCm39)	I105L	probably benign	Het
Or51q1c	T	C	7: 103,653,232 (GRCm39)	V250A	probably damaging	Het
Or5h26	A	T	16: 58,988,202 (GRCm39)	F101L	probably benign	Het
Phldb2	G	T	16: 45,609,410 (GRCm39)	T732N	probably damaging	Het
Phyhip	G	T	14: 70,704,410 (GRCm39)	A210S	possibly damaging	Het
Pik3r4	A	G	9: 105,563,409 (GRCm39)	D1262G	probably damaging	Het
Pip	G	A	6: 41,826,798 (GRCm39)	E48K	possibly damaging	Het
Plk4	C	T	3: 40,767,982 (GRCm39)	L74F	probably damaging	Het
Prdm14	G	A	1: 13,189,031 (GRCm39)	R438W	probably damaging	Het
Rab19	G	A	6: 39,361,023 (GRCm39)	R57H	probably benign	Het
Rtl1	G	T	12: 109,556,661 (GRCm39)	P1726Q	probably damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Skint6	A	T	4: 112,666,297 (GRCm39)	V1176D	possibly damaging	Het
Slc12a1	A	G	2: 125,067,948 (GRCm39)	I1012V	probably damaging	Het
Slc1a3	C	T	15: 8,665,721 (GRCm39)	M509I	probably benign	Het
Spata18	G	A	5: 73,824,224 (GRCm39)	G35E	probably benign	Het
Spata31h1	A	T	10: 82,120,203 (GRCm39)	I4269N	probably damaging	Het
Sspo	C	T	6: 48,432,335 (GRCm39)	P801L	possibly damaging	Het
Ugt2b37	C	T	5: 87,398,524 (GRCm39)	G304D	probably damaging	Het
Vmn2r25	A	T	6: 123,805,539 (GRCm39)		probably benign	Het
Xrcc6	C	A	15: 81,911,423 (GRCm39)		probably null	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
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
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'- ACCCACATCTGATCCATGCCCT -3'
(R):5'- CCCACCTATACATGCtgtgctgact -3'

Sequencing Primer
(F):5'- AATGGAACCTGGAGTGCTCA -3'
(R):5'- ccatccaactattcattcatctatcc -3'

Posted On

2013-04-16