Mutagenetix > Incidental Mutation

Incidental Mutation 'R4859:Evc'

372308

Institutional Source

Beutler Lab

Gene Symbol

Evc

Ensembl Gene

ENSMUSG00000029122

Gene Name

EvC ciliary complex subunit 1

Synonyms

MMRRC Submission

042470-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.213) question?

Stock #

R4859 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37289098-37336894 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37300909 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 85 (T85A)

Ref Sequence

ENSEMBL: ENSMUSP00000114825 (fasta)

Gene Model

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

AlphaFold

P57680

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031005
AA Change: T933A

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

SMART Domains

Protein: ENSMUSP00000031005
Gene: ENSMUSG00000029122
AA Change: T933A

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: ENSMUST00000114154
AA Change: T756A

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000109791
Gene: ENSMUSG00000029122
AA Change: T756A

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

unknown
Transcript: ENSMUST00000139550
AA Change: T24A

SMART Domains

Protein: ENSMUSP00000120191
Gene: ENSMUSG00000029122
AA Change: T24A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000146568
AA Change: T85A

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000114825
Gene: ENSMUSG00000029122
AA Change: T85A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149890

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202004

Meta Mutation Damage Score

0.0691

Coding Region Coverage

1x: 98.9%
3x: 98.1%
10x: 95.5%
20x: 89.5%

Validation Efficiency

100% (112/112)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	T	A	8: 40,754,543 (GRCm38)	V282E	probably benign	Het
Adam26b	T	C	8: 43,520,259 (GRCm38)	T569A	possibly damaging	Het
Adam6a	A	G	12: 113,545,989 (GRCm38)	N661D	probably damaging	Het
Adck1	G	A	12: 88,441,095 (GRCm38)	A199T	probably benign	Het
Adhfe1	A	G	1: 9,558,213 (GRCm38)	Y270C	probably damaging	Het
Aldh16a1	C	T	7: 45,147,307 (GRCm38)	R256H	probably benign	Het
Ap5z1	T	C	5: 142,473,993 (GRCm38)	M466T	possibly damaging	Het
Aspm	C	T	1: 139,469,393 (GRCm38)	L908F	probably damaging	Het
Atp8b2	T	A	3: 89,945,980 (GRCm38)	T743S	probably benign	Het
Bag2	G	T	1: 33,746,941 (GRCm38)	T100K	probably damaging	Het
Camk2a	A	G	18: 60,943,174 (GRCm38)		probably benign	Het
Ccdc158	A	G	5: 92,633,403 (GRCm38)	Y848H	probably damaging	Het
Ccp110	T	G	7: 118,725,430 (GRCm38)	V725G	possibly damaging	Het
Cdh6	A	G	15: 13,051,332 (GRCm38)	V405A	probably benign	Het
Ces2g	T	C	8: 104,967,462 (GRCm38)		probably null	Het
Cfap157	A	G	2: 32,777,542 (GRCm38)	F510L	probably benign	Het
Chd3	A	T	11: 69,359,896 (GRCm38)	M669K	possibly damaging	Het
Cnot10	C	T	9: 114,627,464 (GRCm38)	A168T	probably damaging	Het
Crybg1	A	G	10: 43,992,569 (GRCm38)	V1371A	probably damaging	Het
Dars2	A	G	1: 161,044,990 (GRCm38)	L547P	probably damaging	Het
Dis3	A	G	14: 99,087,790 (GRCm38)	C483R	probably damaging	Het
Dnah7b	T	A	1: 46,356,602 (GRCm38)	L3888Q	probably damaging	Het
Dpysl2	A	T	14: 66,829,439 (GRCm38)	Y182N	probably damaging	Het
Eif4g1	T	A	16: 20,682,173 (GRCm38)	F509L	probably benign	Het
Farsb	T	C	1: 78,467,972 (GRCm38)	T283A	probably benign	Het
Fem1al	G	T	11: 29,825,178 (GRCm38)	A93E	probably damaging	Het
Fgf14	C	A	14: 124,192,433 (GRCm38)	R30L	possibly damaging	Het
Gbe1	T	C	16: 70,478,401 (GRCm38)	L363P	probably damaging	Het
Gcg	A	G	2: 62,476,845 (GRCm38)	V124A	probably damaging	Het
Glb1l	A	G	1: 75,200,319 (GRCm38)		probably benign	Het
Gm5431	T	C	11: 48,889,582 (GRCm38)	E449G	probably damaging	Het
Gon4l	T	C	3: 88,895,348 (GRCm38)	S1089P	probably benign	Het
Hgd	T	C	16: 37,588,749 (GRCm38)	L25P	probably damaging	Het
Hnf1a	T	C	5: 114,955,252 (GRCm38)	H318R	possibly damaging	Het
Hsd17b7	A	C	1: 169,967,257 (GRCm38)	V71G	possibly damaging	Het
Hydin	T	C	8: 110,506,494 (GRCm38)	S1742P	possibly damaging	Het
Insyn2b	A	G	11: 34,403,154 (GRCm38)	S399G	probably benign	Het
Kank2	T	C	9: 21,779,782 (GRCm38)	E552G	probably benign	Het
Kcnq4	C	A	4: 120,716,613 (GRCm38)	R217L	probably damaging	Het
Klrg2	T	C	6: 38,627,605 (GRCm38)	*201W	probably null	Het
Kndc1	T	C	7: 139,921,905 (GRCm38)	S953P	probably benign	Het
Lama2	TTTGCGCATT	TTT	10: 27,043,643 (GRCm38)		probably null	Het
Lonp1	A	G	17: 56,626,587 (GRCm38)	V96A	probably benign	Het
Mgat4e	T	C	1: 134,541,740 (GRCm38)	K189E	possibly damaging	Het
Msantd5f8	A	G	4: 73,887,220 (GRCm38)	S351P	probably damaging	Het
Msh2	G	A	17: 87,718,759 (GRCm38)	V722I	possibly damaging	Het
Mtcl3	A	C	10: 29,150,394 (GRCm38)	M491L	probably benign	Het
N4bp2	T	C	5: 65,825,298 (GRCm38)	Y1632H	probably damaging	Het
Nlrc4	T	G	17: 74,436,037 (GRCm38)	K862T	probably damaging	Het
Notch4	A	T	17: 34,587,180 (GRCm38)	Q1750L	probably damaging	Het
Obscn	C	T	11: 59,082,023 (GRCm38)	V2066I	possibly damaging	Het
Or2v2	T	C	11: 49,113,166 (GRCm38)	K187E	probably damaging	Het
Or4c15	T	A	2: 88,930,283 (GRCm38)	I11L	probably benign	Het
Or4f14b	A	T	2: 111,944,811 (GRCm38)	I215N	probably damaging	Het
Or52d13	A	T	7: 103,461,036 (GRCm38)	Y57*	probably null	Het
Or5m8	T	C	2: 85,992,731 (GRCm38)	S305P	probably damaging	Het
Pde7a	T	A	3: 19,241,491 (GRCm38)		probably benign	Het
Pign	A	T	1: 105,648,167 (GRCm38)	Y249*	probably null	Het
Ppp1r17	A	T	6: 56,026,464 (GRCm38)	E87D	probably damaging	Het
Prss3	T	A	6: 41,373,923 (GRCm38)	Q211L	probably damaging	Het
Rapgef6	A	G	11: 54,636,163 (GRCm38)	E413G	probably benign	Het
Rnf150	A	G	8: 82,864,083 (GRCm38)	H25R	probably damaging	Het
Scamp2	T	C	9: 57,581,651 (GRCm38)		probably null	Het
Scap	T	A	9: 110,374,342 (GRCm38)		probably benign	Het
Sdc2	A	C	15: 33,032,456 (GRCm38)	K175N	probably damaging	Het
Serpinb6d	T	A	13: 33,667,564 (GRCm38)		probably null	Het
Sh3tc2	A	G	18: 62,013,093 (GRCm38)	N1181S	probably benign	Het
Slc44a2	T	C	9: 21,348,145 (GRCm38)	I46T	probably damaging	Het
Slfn8	A	G	11: 83,017,714 (GRCm38)	M1T	probably null	Het
Slitrk6	T	C	14: 110,751,883 (GRCm38)	T131A	probably damaging	Het
Spata1	C	G	3: 146,469,774 (GRCm38)	D326H	probably damaging	Het
Tbck	T	G	3: 132,801,527 (GRCm38)	S753R	probably benign	Het
Tdp1	A	G	12: 99,909,811 (GRCm38)	I340M	probably benign	Het
Tmprss6	T	A	15: 78,446,677 (GRCm38)	Y50F	probably damaging	Het
Trank1	T	A	9: 111,365,010 (GRCm38)	S701T	probably benign	Het
Trbv17	A	T	6: 41,163,289 (GRCm38)	N26I	probably benign	Het
Trip12	A	T	1: 84,793,810 (GRCm38)	S248T	probably damaging	Het
Vmn2r53	T	G	7: 12,601,403 (GRCm38)	Q110P	probably damaging	Het
Vmn2r75	A	G	7: 86,148,403 (GRCm38)	V734A	probably benign	Het
Wfdc11	A	T	2: 164,665,495 (GRCm38)	M14K	probably null	Het
Xcr1	T	A	9: 123,856,647 (GRCm38)	M17L	probably benign	Het
Zbtb40	A	G	4: 136,988,759 (GRCm38)	I965T	probably damaging	Het
Zfp760	A	T	17: 21,723,530 (GRCm38)	H562L	probably damaging	Het
Zfp760	A	T	17: 21,723,535 (GRCm38)	R564*	probably null	Het
Znf41-ps	T	A	4: 145,828,713 (GRCm38)		noncoding transcript	Het
Zyg11a	A	T	4: 108,210,190 (GRCm38)	I41N	probably damaging	Het

Other mutations in Evc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01399:Evc	APN	5	37,333,013 (GRCm38)	missense	probably damaging	1.00
IGL01799:Evc	APN	5	37,324,914 (GRCm38)	missense	possibly damaging	0.46
IGL01806:Evc	APN	5	37,320,234 (GRCm38)	critical splice donor site	probably null
IGL01823:Evc	APN	5	37,328,521 (GRCm38)	missense	probably damaging	1.00
IGL02821:Evc	APN	5	37,326,396 (GRCm38)	missense	probably benign	0.01
R0312:Evc	UTSW	5	37,328,541 (GRCm38)	missense	possibly damaging	0.83
R0355:Evc	UTSW	5	37,316,312 (GRCm38)	splice site	probably benign
R0741:Evc	UTSW	5	37,326,395 (GRCm38)	missense	possibly damaging	0.51
R0745:Evc	UTSW	5	37,319,059 (GRCm38)	missense	probably damaging	0.99
R1498:Evc	UTSW	5	37,323,700 (GRCm38)	missense	possibly damaging	0.66
R1517:Evc	UTSW	5	37,319,035 (GRCm38)	missense	probably damaging	1.00
R2680:Evc	UTSW	5	37,310,237 (GRCm38)	missense	probably benign
R2867:Evc	UTSW	5	37,316,275 (GRCm38)	intron	probably benign
R4585:Evc	UTSW	5	37,323,713 (GRCm38)	missense	probably damaging	0.96
R4586:Evc	UTSW	5	37,323,713 (GRCm38)	missense	probably damaging	0.96
R4731:Evc	UTSW	5	37,323,797 (GRCm38)	missense	probably benign	0.38
R4963:Evc	UTSW	5	37,322,049 (GRCm38)	critical splice donor site	probably null
R5536:Evc	UTSW	5	37,326,583 (GRCm38)	splice site	probably benign
R5693:Evc	UTSW	5	37,320,240 (GRCm38)	missense	possibly damaging	0.46
R5781:Evc	UTSW	5	37,326,570 (GRCm38)	missense	probably damaging	1.00
R6251:Evc	UTSW	5	37,300,499 (GRCm38)	missense	probably benign
R7061:Evc	UTSW	5	37,319,102 (GRCm38)	missense	possibly damaging	0.66
R7286:Evc	UTSW	5	37,322,183 (GRCm38)	nonsense	probably null
R7503:Evc	UTSW	5	37,300,767 (GRCm38)	missense	unknown
R7831:Evc	UTSW	5	37,319,083 (GRCm38)	missense	probably damaging	1.00
R8344:Evc	UTSW	5	37,314,528 (GRCm38)	missense	possibly damaging	0.90
R8853:Evc	UTSW	5	37,303,303 (GRCm38)	missense	possibly damaging	0.66
R9222:Evc	UTSW	5	37,320,306 (GRCm38)	missense	probably benign	0.04
R9396:Evc	UTSW	5	37,319,090 (GRCm38)	missense	possibly damaging	0.66
R9583:Evc	UTSW	5	37,316,357 (GRCm38)	nonsense	probably null
R9650:Evc	UTSW	5	37,300,818 (GRCm38)	missense	probably damaging	0.96
X0012:Evc	UTSW	5	37,300,729 (GRCm38)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- GAGCACCTTGAGAAGAGTCATTCC -3'
(R):5'- AACAAGGAACCTGGTGCACC -3'

Sequencing Primer
(F):5'- TTGAGAAGAGTCATTCCCAGACTC -3'
(R):5'- CTCTGTCAAGAGCAGGCTGTG -3'

Posted On

2016-03-01