Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01102:Emc4'

50516

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Emc4

Ensembl Gene

ENSMUSG00000027131

Gene Name

ER membrane protein complex subunit 4

Synonyms

Tmem85, 2610318K02Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01102

Quality Score

Status

Chromosome

Chromosomal Location

112193356-112198372 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to A at 112197871 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124314 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028549] [ENSMUST00000028551] [ENSMUST00000053666] [ENSMUST00000141047]

AlphaFold

Q9CZX9

Predicted Effect

probably benign
Transcript: ENSMUST00000028549

SMART Domains

Protein: ENSMUSP00000028549
Gene: ENSMUSG00000027130

Domain	Start	End	E-Value	Type
low complexity region	28	53	N/A	INTRINSIC
SCOP:d1qqea_	114	171	8e-3	SMART
Pfam:AA_permease	190	384	4.1e-25	PFAM
Pfam:AA_permease	453	761	2.3e-43	PFAM
Pfam:SLC12	773	897	7.1e-20	PFAM
Pfam:SLC12	892	1150	3.9e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000028551

SMART Domains

Protein: ENSMUSP00000028551
Gene: ENSMUSG00000027131

Domain	Start	End	E-Value	Type
low complexity region	22	41	N/A	INTRINSIC
Pfam:DUF1077	56	170	2.6e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000053666

SMART Domains

Protein: ENSMUSP00000051490
Gene: ENSMUSG00000027130

Domain	Start	End	E-Value	Type
Pfam:AA_permease	139	333	2.3e-25	PFAM
Pfam:AA_permease_2	385	668	1.5e-19	PFAM
Pfam:AA_permease	391	710	4.5e-41	PFAM
low complexity region	828	842	N/A	INTRINSIC
Pfam:KCl_Cotrans_1	967	996	2.2e-23	PFAM
low complexity region	1079	1091	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137896

Predicted Effect

probably benign
Transcript: ENSMUST00000141047

SMART Domains

Protein: ENSMUSP00000124314
Gene: ENSMUSG00000096764

Domain	Start	End	E-Value	Type
low complexity region	28	53	N/A	INTRINSIC
SCOP:d1qqea_	99	156	8e-3	SMART
Pfam:AA_permease	175	369	6.6e-25	PFAM
Pfam:AA_permease	438	746	3.6e-43	PFAM
Pfam:SLC12	758	884	6.8e-20	PFAM
Pfam:SLC12	877	1033	5.9e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153967

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	C	T	2: 25,323,968 (GRCm39)		probably benign	Het
Bloc1s2-ps	C	T	2: 52,509,914 (GRCm39)	A50V	probably benign	Het
Bltp3b	T	C	10: 89,627,240 (GRCm39)	L435P	probably benign	Het
Col4a3	A	G	1: 82,647,441 (GRCm39)	D455G	unknown	Het
Col4a3	A	G	1: 82,647,976 (GRCm39)	I496V	unknown	Het
Coro1c	A	T	5: 113,987,675 (GRCm39)	M222K	probably benign	Het
Dnah5	T	A	15: 28,410,149 (GRCm39)		probably null	Het
Fcer2a	T	C	8: 3,738,842 (GRCm39)	D32G	possibly damaging	Het
Fhip1a	A	G	3: 85,572,808 (GRCm39)		probably benign	Het
Garnl3	T	C	2: 32,896,828 (GRCm39)	K559E	probably damaging	Het
Gckr	T	C	5: 31,466,381 (GRCm39)	L452P	probably damaging	Het
Gm4841	A	G	18: 60,403,124 (GRCm39)	V323A	probably damaging	Het
Gm6902	T	A	7: 22,973,087 (GRCm39)	I147L	probably benign	Het
Gpr75	T	C	11: 30,841,755 (GRCm39)	V220A	probably benign	Het
Hdac6	A	G	X: 7,813,237 (GRCm39)	S42P	probably benign	Het
Hdhd2	A	G	18: 77,044,607 (GRCm39)	N128S	probably damaging	Het
Hsd3b2	G	T	3: 98,618,995 (GRCm39)	R317S	probably damaging	Het
Il23r	T	A	6: 67,400,909 (GRCm39)	I474F	probably damaging	Het
Itga5	T	C	15: 103,255,102 (GRCm39)	Y954C	probably benign	Het
Itgam	T	C	7: 127,679,445 (GRCm39)	F196L	possibly damaging	Het
Mapkbp1	T	C	2: 119,852,339 (GRCm39)	V957A	possibly damaging	Het
Mblac2	T	C	13: 81,898,125 (GRCm39)	M167T	probably damaging	Het
Mterf4	C	T	1: 93,232,812 (GRCm39)	R13H	possibly damaging	Het
Npffr1	T	G	10: 61,449,987 (GRCm39)	V87G	probably damaging	Het
Or5h18	G	A	16: 58,848,192 (GRCm39)	P26L	probably benign	Het
Or6c76b	A	G	10: 129,692,497 (GRCm39)	I37V	probably benign	Het
Phldb2	A	G	16: 45,645,423 (GRCm39)	L386P	probably damaging	Het
Ppp1r13b	A	G	12: 111,799,653 (GRCm39)	I708T	probably benign	Het
Pramel31	A	G	4: 144,090,195 (GRCm39)	I412V	probably benign	Het
Ramp2	T	A	11: 101,138,453 (GRCm39)	Y85N	probably benign	Het
Rnf217	A	G	10: 31,484,499 (GRCm39)	Y228H	probably damaging	Het
Rock1	T	G	18: 10,080,502 (GRCm39)	D1014A	probably benign	Het
Scyl3	T	A	1: 163,762,338 (GRCm39)	C101*	probably null	Het
Sema6b	G	T	17: 56,439,761 (GRCm39)	L27I	possibly damaging	Het
Slc10a5	A	G	3: 10,400,369 (GRCm39)	V97A	probably benign	Het
Strc	C	A	2: 121,195,541 (GRCm39)	R1636L	probably benign	Het
Tm9sf1	T	A	14: 55,880,224 (GRCm39)	T58S	probably damaging	Het
Tmem106c	T	C	15: 97,864,825 (GRCm39)	Y85H	probably damaging	Het
Vmn2r9	A	G	5: 108,990,811 (GRCm39)		probably null	Het
Vps13a	A	G	19: 16,628,781 (GRCm39)		probably null	Het
Zfp976	A	T	7: 42,263,333 (GRCm39)	L168*	probably null	Het

Other mutations in Emc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R5428:Emc4	UTSW	2	112,197,700 (GRCm39)	intron	probably benign
R7874:Emc4	UTSW	2	112,194,178 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-21