Mutagenetix > Incidental Mutation

Incidental Mutation 'R7061:Evc'

548255

Institutional Source

Beutler Lab

Gene Symbol

Evc

Ensembl Gene

ENSMUSG00000029122

Gene Name

EvC ciliary complex subunit 1

Synonyms

MMRRC Submission

045384-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.218) question?

Stock #

R7061 (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 37319102 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 368 (T368A)

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: T368A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000031005
Gene: ENSMUSG00000029122
AA Change: T368A

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

possibly damaging
Transcript: ENSMUST00000114148
AA Change: T368A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000109785
Gene: ENSMUSG00000029122
AA Change: T368A

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
AA Change: T191A

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000109791
Gene: ENSMUSG00000029122
AA Change: T191A

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

Coding Region Coverage

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

Validation Efficiency

99% (68/69)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	A	G	5: 24,545,065	M660T	probably benign	Het
Aard	G	A	15: 52,040,221	M13I	probably benign	Het
Abcb5	A	C	12: 118,877,774	Y979D	probably damaging	Het
Adgrb1	G	C	15: 74,569,881	V4L	probably benign	Het
Ap3b2	C	T	7: 81,461,009	R1006Q	unknown	Het
Bpifa6	A	T	2: 153,992,316	T343S	probably benign	Het
Celsr3	T	A	9: 108,847,594	C2957*	probably null	Het
Chd6	G	A	2: 161,025,965	Q428*	probably null	Het
Col5a1	C	A	2: 28,025,678	C191*	probably null	Het
Cpox	A	G	16: 58,670,860	I145V	possibly damaging	Het
Csnk2a1	C	T	2: 152,274,171	R268C	probably benign	Het
Dclk2	A	G	3: 86,831,731		probably null	Het
Dennd5a	T	C	7: 109,905,179	E909G	probably benign	Het
Depdc1a	T	A	3: 159,522,852	S414T	possibly damaging	Het
Dock5	A	G	14: 67,770,254	F1502S	probably damaging	Het
Dopey2	G	T	16: 93,762,063	A448S	probably benign	Het
Dsg1c	C	A	18: 20,277,009	N511K	probably benign	Het
Epc2	G	T	2: 49,535,322	R108L	probably damaging	Het
Erp44	T	A	4: 48,219,375	I147F	probably benign	Het
Fbxo41	G	T	6: 85,475,466	R738S	probably benign	Het
Fli1	T	C	9: 32,424,222	T305A	probably damaging	Het
Gm4969	A	T	7: 19,100,128		probably benign	Het
Gm8897	T	C	5: 11,419,104	V74A	possibly damaging	Het
Grk5	A	G	19: 61,046,092	T93A	probably benign	Het
Grm2	A	T	9: 106,651,225	N153K	probably damaging	Het
Helz	A	G	11: 107,649,177	T1007A	possibly damaging	Het
Helz2	A	G	2: 181,240,514	L162P	probably damaging	Het
Hmgcr	T	A	13: 96,666,148	Q81L	possibly damaging	Het
Hnrnpu	T	C	1: 178,336,126	K218E	unknown	Het
Hydin	A	T	8: 110,603,288	I4885F	possibly damaging	Het
Ibsp	A	G	5: 104,309,902		probably null	Het
Igfals	T	C	17: 24,880,307	L124P	probably damaging	Het
Il24	T	A	1: 130,883,371	H142L	possibly damaging	Het
Kcnh2	A	T	5: 24,331,922	H221Q	probably benign	Het
Man1a	A	G	10: 53,920,235	S454P	probably damaging	Het
Mfsd4b1	C	T	10: 40,003,386	V172M	possibly damaging	Het
Mical2	T	A	7: 112,346,801	I763K	probably benign	Het
Mybpc3	A	G	2: 91,125,404	I594M	possibly damaging	Het
Neo1	T	A	9: 58,990,441	R77S	possibly damaging	Het
Nlrp6	A	G	7: 140,922,867	I265M	probably benign	Het
Olfr1350	A	G	7: 6,570,783	Y264C	probably damaging	Het
Olfr669	T	C	7: 104,938,676	L50P	probably damaging	Het
Olfr877	T	A	9: 37,855,646	V276D	possibly damaging	Het
Pcdhgb5	C	A	18: 37,731,923	P257Q	probably benign	Het
Phactr1	A	G	13: 43,132,981	D586G	probably damaging	Het
Pkn3	T	A	2: 30,083,536		probably null	Het
Prob1	A	T	18: 35,654,500	S234T	probably benign	Het
Rab14	A	T	2: 35,183,417	L131*	probably null	Het
Rab5c	G	A	11: 100,719,963	R40C	probably damaging	Het
Rhebl1	A	G	15: 98,879,283	L103P	probably damaging	Het
Rnf10	G	T	5: 115,257,090	F146L	probably damaging	Het
Rrbp1	T	C	2: 143,989,167	K360R	possibly damaging	Het
Slc6a9	C	T	4: 117,868,064	T575I	probably benign	Het
Smo	A	G	6: 29,760,230	H776R	probably damaging	Het
Tns2	A	G	15: 102,104,479	M1V	probably null	Het
Ttn	C	A	2: 76,894,692		probably benign	Het
Ugt3a1	A	T	15: 9,306,154	M130L	probably benign	Het
Urb2	C	T	8: 124,028,297	H248Y	probably benign	Het
Vit	A	T	17: 78,625,156	N564I	probably damaging	Het
Vmn1r60	A	T	7: 5,544,311	Y263*	probably null	Het
Vmn2r16	A	T	5: 109,363,754	Y609F	probably damaging	Het
Xpo7	T	C	14: 70,671,072	I876V	probably benign	Het
Zfp442	A	G	2: 150,408,017	I655T	probably benign	Het
Zfp574	T	A	7: 25,080,197	C215S	possibly damaging	Het
Zfp608	T	C	18: 54,987,997	T173A	probably benign	Het
Zfp69	A	T	4: 120,931,401	V239D	possibly 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
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'- TGCTGAGTCAGGAGTTCCTC -3'
(R):5'- GCTAAGTAACCAGTGGCTGATCC -3'

Sequencing Primer
(F):5'- CCTTTTGCCTCCCAGACAG -3'
(R):5'- GTGGCTGATCCCAAACTCTGAAG -3'

Posted On

2019-05-13