Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01775:Emc3'

154081

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Emc3

Ensembl Gene

ENSMUSG00000030286

Gene Name

ER membrane protein complex subunit 3

Synonyms

0610039A15Rik, Tmem111

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01775

Quality Score

Status

Chromosome

Chromosomal Location

113491848-113508599 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113508296 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 50 (S50P)

Ref Sequence

ENSEMBL: ENSMUSP00000032425 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032425] [ENSMUST00000036340] [ENSMUST00000204827]

AlphaFold

Q99KI3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032425
AA Change: S50P

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000032425
Gene: ENSMUSG00000030286
AA Change: S50P

Domain	Start	End	E-Value	Type
Pfam:DUF106	5	191	6.2e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000036340

SMART Domains

Protein: ENSMUSP00000045667
Gene: ENSMUSG00000034023

Domain	Start	End	E-Value	Type
Pfam:FancD2	1	1415	N/A	PFAM
low complexity region	1430	1450	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000101051

SMART Domains

Protein: ENSMUSP00000098612
Gene: ENSMUSG00000034023

Domain	Start	End	E-Value	Type
Pfam:FancD2	1	129	1.3e-62	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143535

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175019

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203526

Predicted Effect

probably benign
Transcript: ENSMUST00000204827

SMART Domains

Protein: ENSMUSP00000144928
Gene: ENSMUSG00000034023

Domain	Start	End	E-Value	Type
Pfam:FancD2	1	1402	N/A	PFAM
low complexity region	1417	1437	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	A	T	11: 84,361,963 (GRCm39)	L333Q	probably damaging	Het
Ablim3	A	T	18: 61,949,989 (GRCm39)		probably benign	Het
Acsl6	T	C	11: 54,236,826 (GRCm39)		probably benign	Het
Adra1b	T	A	11: 43,726,128 (GRCm39)	D263V	probably damaging	Het
Aicda	G	A	6: 122,538,012 (GRCm39)	V57M	probably damaging	Het
C2cd3	T	C	7: 100,092,638 (GRCm39)	W494R	probably damaging	Het
Ccnb1	T	C	13: 100,920,017 (GRCm39)	S165G	probably benign	Het
Cnot4	A	T	6: 35,046,411 (GRCm39)		probably benign	Het
Dph6	A	T	2: 114,348,776 (GRCm39)		probably benign	Het
Fbxo45	A	C	16: 32,052,093 (GRCm39)		probably null	Het
Gm14496	A	T	2: 181,642,125 (GRCm39)	T599S	probably benign	Het
Gspt1	T	C	16: 11,041,159 (GRCm39)	I535V	possibly damaging	Het
Hemk1	A	G	9: 107,207,995 (GRCm39)	I215T	possibly damaging	Het
Ighm	A	T	12: 113,386,087 (GRCm39)	C88S	unknown	Het
Itih2	A	C	2: 10,134,097 (GRCm39)	D38E	probably benign	Het
Lat	C	A	7: 125,967,261 (GRCm39)	V113L	probably benign	Het
Mical2	T	A	7: 111,981,269 (GRCm39)	F480L	possibly damaging	Het
Mki67	A	T	7: 135,300,005 (GRCm39)	S1676R	possibly damaging	Het
Msh2	A	T	17: 87,990,074 (GRCm39)	N254I	possibly damaging	Het
Naglu	T	C	11: 100,964,921 (GRCm39)	M336T	probably damaging	Het
Nhsl1	C	T	10: 18,400,222 (GRCm39)	R483C	probably damaging	Het
Nsmaf	C	T	4: 6,396,791 (GRCm39)	E899K	possibly damaging	Het
Nup85	T	C	11: 115,471,593 (GRCm39)	Y181H	probably damaging	Het
Or52n2	A	T	7: 104,542,499 (GRCm39)	M112K	possibly damaging	Het
Or5m5	T	C	2: 85,815,014 (GRCm39)	S277P	probably damaging	Het
Or7g35	A	T	9: 19,496,001 (GRCm39)	Q56L	probably benign	Het
Or8g23	C	A	9: 38,971,763 (GRCm39)	L66F	probably damaging	Het
P2rx3	C	T	2: 84,854,501 (GRCm39)	R91H	probably benign	Het
Plag1	T	C	4: 3,904,513 (GRCm39)	D226G	probably damaging	Het
Pofut1	T	A	2: 153,090,393 (GRCm39)	F96I	probably damaging	Het
Prim1	A	G	10: 127,865,112 (GRCm39)	N399S	probably benign	Het
Prkd3	G	T	17: 79,320,189 (GRCm39)	T51K	probably damaging	Het
Ptprc	T	C	1: 137,992,497 (GRCm39)	Y1210C	probably damaging	Het
Rbm43	A	T	2: 51,815,460 (GRCm39)	S254T	probably damaging	Het
Retsat	G	A	6: 72,584,300 (GRCm39)	R528Q	probably damaging	Het
Rlig1	A	T	10: 100,419,799 (GRCm39)	L94Q	probably benign	Het
Rps8	C	A	4: 117,012,249 (GRCm39)	R56L	probably benign	Het
Samhd1	A	T	2: 156,956,250 (GRCm39)		probably benign	Het
Sfxn1	T	C	13: 54,259,758 (GRCm39)		probably benign	Het
Stk33	T	A	7: 108,911,574 (GRCm39)	E396D	possibly damaging	Het
Tcaim	T	C	9: 122,647,890 (GRCm39)	V135A	probably damaging	Het
Thsd7b	A	G	1: 129,556,676 (GRCm39)	D421G	probably damaging	Het
Unc80	A	G	1: 66,640,215 (GRCm39)	D1374G	possibly damaging	Het
Wnk2	C	A	13: 49,224,586 (GRCm39)	D232Y	probably damaging	Het
Zfand1	T	C	3: 10,409,926 (GRCm39)	T145A	probably damaging	Het

Other mutations in Emc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02347:Emc3	APN	6	113,497,533 (GRCm39)	missense	possibly damaging	0.50
R0044:Emc3	UTSW	6	113,508,344 (GRCm39)	missense	probably benign	0.05
R0626:Emc3	UTSW	6	113,492,992 (GRCm39)	missense	probably benign
R4736:Emc3	UTSW	6	113,508,310 (GRCm39)	missense	possibly damaging	0.71
R7062:Emc3	UTSW	6	113,499,757 (GRCm39)	missense	probably damaging	0.97
R7128:Emc3	UTSW	6	113,494,881 (GRCm39)	missense	probably damaging	1.00
R7183:Emc3	UTSW	6	113,508,345 (GRCm39)	nonsense	probably null
R8510:Emc3	UTSW	6	113,508,350 (GRCm39)	missense	probably damaging	1.00
R8817:Emc3	UTSW	6	113,492,868 (GRCm39)	missense	probably damaging	1.00
R8839:Emc3	UTSW	6	113,496,931 (GRCm39)	missense	possibly damaging	0.91

Posted On

2014-02-04