Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03053:Ehd3'

409146

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ehd3

Ensembl Gene

ENSMUSG00000024065

Gene Name

EH-domain containing 3

Synonyms

Ehd2

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03053

Quality Score

Status

Chromosome

Chromosomal Location

73804841-73832093 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73805442 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 67 (Y67C)

Ref Sequence

ENSEMBL: ENSMUSP00000024860 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024860]

Predicted Effect

probably damaging
Transcript: ENSMUST00000024860
AA Change: Y67C

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000024860
Gene: ENSMUSG00000024065
AA Change: Y67C

Domain	Start	End	E-Value	Type
Pfam:EHD_N	24	56	1.6e-21	PFAM
Pfam:MMR_HSR1	60	220	1.7e-8	PFAM
Pfam:Dynamin_N	61	221	1.3e-12	PFAM
low complexity region	420	433	N/A	INTRINSIC
EH	438	531	1.95e-45	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are healthy and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	G	A	4: 106,755,853	Q342*	probably null	Het
Arglu1	T	A	8: 8,683,960	I119L	probably benign	Het
Atp1a2	G	A	1: 172,278,356	T914I	probably damaging	Het
Birc6	C	T	17: 74,565,972	R409C	probably damaging	Het
Brwd1	A	T	16: 96,017,677	S1318R	possibly damaging	Het
C1qtnf12	A	T	4: 155,966,464	N297Y	probably damaging	Het
Cbwd1	T	A	19: 24,955,377	E97D	probably damaging	Het
Cyp2a4	A	T	7: 26,313,550		probably benign	Het
Cyp2j7	C	T	4: 96,230,037	M106I	probably benign	Het
Dis3	A	G	14: 99,098,734	V112A	probably benign	Het
Elavl4	A	T	4: 110,251,494	S16T	possibly damaging	Het
F2rl1	A	C	13: 95,513,618	V252G	probably benign	Het
Fggy	A	T	4: 95,926,809		probably benign	Het
Hc	G	T	2: 35,024,198	N832K	probably benign	Het
Hnf1a	T	A	5: 114,970,733	M38L	probably benign	Het
Kif13a	T	C	13: 46,752,088	N793S	probably benign	Het
Kit	A	G	5: 75,610,914	N244D	probably benign	Het
Mb21d1	A	T	9: 78,437,437	F234Y	probably benign	Het
Mgat5b	A	G	11: 116,923,450	E60G	possibly damaging	Het
Obsl1	T	C	1: 75,493,079	H1098R	probably benign	Het
Olfr1094	A	G	2: 86,829,263	I170M	possibly damaging	Het
Olfr1178	A	G	2: 88,391,594	M116V	probably damaging	Het
Olfr1230	A	C	2: 89,296,445	I275S	probably damaging	Het
Olfr138	A	C	17: 38,274,791	S7R	probably damaging	Het
Olfr166	A	T	16: 19,487,219	H127L	probably benign	Het
Olfr198	A	G	16: 59,202,247	Y60H	probably damaging	Het
Olfr215	T	C	6: 116,582,245	R234G	possibly damaging	Het
Pitpnm2	A	G	5: 124,143,601	I42T	probably damaging	Het
Prkd2	A	G	7: 16,850,263	D347G	possibly damaging	Het
Prkdc	A	G	16: 15,834,166	I3806V	probably benign	Het
Rasgrp2	T	C	19: 6,407,332		probably benign	Het
Rc3h1	T	A	1: 160,955,817	D734E	probably benign	Het
Rtel1	A	G	2: 181,351,944	K619E	probably benign	Het
Tnfrsf26	T	C	7: 143,614,860	D147G	possibly damaging	Het
Ufl1	A	G	4: 25,275,833	I110T	probably damaging	Het
Ugt2b36	A	G	5: 87,092,074	S151P	possibly damaging	Het
Vmn2r25	T	C	6: 123,823,118	Y755C	probably damaging	Het
Zfhx3	T	C	8: 108,946,500	V1394A	probably damaging	Het
Zzef1	G	T	11: 72,831,539		probably benign	Het

Other mutations in Ehd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01010:Ehd3	APN	17	73827489	missense	probably damaging	0.99
IGL01400:Ehd3	APN	17	73828094	missense	probably benign	0.06
IGL01557:Ehd3	APN	17	73805280	missense	probably benign
IGL02214:Ehd3	APN	17	73820546	missense	probably damaging	1.00
IGL02796:Ehd3	UTSW	17	73816401	missense	probably damaging	1.00
R0468:Ehd3	UTSW	17	73805379	missense	probably damaging	1.00
R0557:Ehd3	UTSW	17	73829933	missense	probably benign	0.00
R1029:Ehd3	UTSW	17	73816326	missense	probably benign	0.00
R1295:Ehd3	UTSW	17	73828186	missense	probably damaging	0.97
R1386:Ehd3	UTSW	17	73820543	missense	probably damaging	1.00
R1796:Ehd3	UTSW	17	73830359	missense	probably damaging	1.00
R3821:Ehd3	UTSW	17	73827395	missense	probably benign	0.01
R4873:Ehd3	UTSW	17	73805304	missense	probably damaging	1.00
R4875:Ehd3	UTSW	17	73805304	missense	probably damaging	1.00
R5104:Ehd3	UTSW	17	73827447	missense	probably benign	0.44
R5244:Ehd3	UTSW	17	73830000	missense	probably benign
R5283:Ehd3	UTSW	17	73820503	missense	probably benign
R5339:Ehd3	UTSW	17	73828207	missense	possibly damaging	0.63
R5966:Ehd3	UTSW	17	73827361	missense	probably damaging	1.00
R5966:Ehd3	UTSW	17	73827366	missense	probably damaging	1.00
R6255:Ehd3	UTSW	17	73805413	missense	probably benign	0.17
R6906:Ehd3	UTSW	17	73830338	missense	probably damaging	1.00
R7113:Ehd3	UTSW	17	73830184	missense	probably benign	0.17
R7368:Ehd3	UTSW	17	73827462	missense	possibly damaging	0.72
R7410:Ehd3	UTSW	17	73805433	missense	probably benign	0.04
R7891:Ehd3	UTSW	17	73816392	missense	probably benign	0.19
Z1176:Ehd3	UTSW	17	73805285	missense	probably benign	0.01
Z1177:Ehd3	UTSW	17	73830105	missense	probably benign	0.00

Posted On

2016-08-02