Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01399:Evc'

79588

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Evc

Ensembl Gene

ENSMUSG00000029122

Gene Name

EvC ciliary complex subunit 1

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.352) question?

Stock #

IGL01399

Quality Score

Status

Chromosome

Chromosomal Location

37289098-37336894 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37333013 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 55 (D55V)

Ref Sequence

ENSEMBL: ENSMUSP00000109785 (fasta)

Gene Model

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

AlphaFold

P57680

Predicted Effect

probably damaging
Transcript: ENSMUST00000031005
AA Change: D55V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031005
Gene: ENSMUSG00000029122
AA Change: D55V

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: D55V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109785
Gene: ENSMUSG00000029122
AA Change: D55V

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

Coding Region Coverage

Validation Efficiency

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol11b	G	A	15: 77,638,019	T26M	probably damaging	Het
Asic4	T	A	1: 75,469,146	N206K	possibly damaging	Het
Bsn	A	G	9: 108,107,187	Y3223H	unknown	Het
Btaf1	C	T	19: 37,000,170	R1463*	probably null	Het
Ccdc146	A	G	5: 21,294,613	I857T	possibly damaging	Het
Ccnf	G	A	17: 24,225,012	S594L	probably damaging	Het
Chd5	T	C	4: 152,356,687	W195R	probably damaging	Het
Cntn1	A	G	15: 92,305,144	Y769C	probably damaging	Het
Cwc22	T	C	2: 77,917,064	E435G	probably benign	Het
Dct	A	G	14: 118,036,478	F339S	probably damaging	Het
Ddx54	G	T	5: 120,623,903	E554*	probably null	Het
Dock3	G	T	9: 106,993,471	S581R	probably benign	Het
Dst	A	G	1: 34,117,517	H176R	probably benign	Het
Emc8	A	G	8: 120,659,006	M123T	probably damaging	Het
Gm5424	A	G	10: 62,071,493		noncoding transcript	Het
Gpr149	A	T	3: 62,604,431	L49Q	probably damaging	Het
Hcfc1	C	T	X: 73,949,909	V1217I	possibly damaging	Het
Hoxa4	G	T	6: 52,190,413	Q263K	probably damaging	Het
Ift172	T	C	5: 31,266,248	E790G	probably benign	Het
Ipp	A	G	4: 116,515,187	N138D	probably damaging	Het
Isg20	A	T	7: 78,920,088	T158S	possibly damaging	Het
Klf17	A	G	4: 117,759,159	F325S	probably damaging	Het
Lilrb4a	T	C	10: 51,494,065	L233P	probably benign	Het
Malrd1	G	A	2: 16,101,957		probably null	Het
Myh9	A	T	15: 77,767,270	L1544Q	probably damaging	Het
Nexmif	T	A	X: 104,087,180	D377V	probably damaging	Het
Nobox	T	C	6: 43,304,038	T501A	probably benign	Het
Noc3l	T	C	19: 38,815,655	D93G	possibly damaging	Het
Nrcam	G	T	12: 44,575,884	A938S	probably benign	Het
Nup205	T	C	6: 35,219,689	I1120T	possibly damaging	Het
Olfr1446	A	T	19: 12,890,439	M46K	probably benign	Het
Olfr186	C	T	16: 59,027,266	V214I	probably benign	Het
Ptpn3	T	C	4: 57,225,775	D480G	probably benign	Het
Selenof	C	T	3: 144,596,908	T148I	probably damaging	Het
Sgce	C	A	6: 4,746,997	G31V	probably damaging	Het
Slc35e1	C	A	8: 72,484,690	A325S	probably damaging	Het
Slc4a4	A	G	5: 89,228,935	D1016G	probably damaging	Het
Synj2	T	G	17: 6,009,771	C149W	probably damaging	Het
Tecpr1	A	G	5: 144,208,593		probably null	Het
Utp20	A	G	10: 88,758,302		probably null	Het
Vmn2r63	T	A	7: 42,904,119	K571M	probably damaging	Het
Wdr53	A	G	16: 32,251,900	D21G	possibly damaging	Het
Zbtb3	T	C	19: 8,803,455	L144S	probably damaging	Het
Zfp185	T	A	X: 73,000,048	S154T	probably damaging	Het

Other mutations in Evc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-11-05