Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03211:Emc2'

413299

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Emc2

Ensembl Gene

ENSMUSG00000022337

Gene Name

ER membrane protein complex subunit 2

Synonyms

Ttc35, 4921531G14Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.917) question?

Stock #

IGL03211

Quality Score

Status

Chromosome

Chromosomal Location

43340625-43391159 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 43371068 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 131 (R131*)

Ref Sequence

ENSEMBL: ENSMUSP00000022962 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022962]

AlphaFold

Q9CRD2

Predicted Effect

probably null
Transcript: ENSMUST00000022962
AA Change: R131*

SMART Domains

Protein: ENSMUSP00000022962
Gene: ENSMUSG00000022337
AA Change: R131*

Domain	Start	End	E-Value	Type
coiled coil region	13	36	N/A	INTRINSIC
Pfam:TPR_2	88	120	6.8e-5	PFAM
Pfam:TPR_19	98	151	5.9e-8	PFAM
Pfam:TPR_19	131	198	3.7e-8	PFAM
Pfam:TPR_2	155	188	2.4e-6	PFAM
Pfam:TPR_8	155	188	1.4e-4	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bmp7	C	T	2: 172,714,676 (GRCm39)	V378I	possibly damaging	Het
Cd209b	G	T	8: 3,968,830 (GRCm39)		probably benign	Het
Cilp	A	T	9: 65,187,457 (GRCm39)	Q1184L	probably benign	Het
Cysltr2	A	T	14: 73,267,155 (GRCm39)	M185K	possibly damaging	Het
Dcaf6	A	G	1: 165,250,502 (GRCm39)	F121L	possibly damaging	Het
Dnajc8	T	A	4: 132,272,048 (GRCm39)	Y95N	possibly damaging	Het
Ebf3	A	G	7: 136,833,033 (GRCm39)	V214A	probably benign	Het
Elavl3	A	G	9: 21,929,974 (GRCm39)	V310A	probably damaging	Het
Hcn4	G	A	9: 58,765,434 (GRCm39)	V639M	unknown	Het
Kif21a	T	G	15: 90,882,166 (GRCm39)	D46A	possibly damaging	Het
Kitl	T	C	10: 99,916,721 (GRCm39)	S175P	probably benign	Het
Klhl32	C	T	4: 24,792,616 (GRCm39)		probably null	Het
Plcg1	C	T	2: 160,601,611 (GRCm39)	T972I	possibly damaging	Het
Prdm13	T	C	4: 21,678,492 (GRCm39)	H666R	probably damaging	Het
Rap1gap	G	A	4: 137,443,157 (GRCm39)		probably null	Het
Rdh7	T	C	10: 127,723,492 (GRCm39)	N121S	probably benign	Het
Ric8b	T	A	10: 84,837,657 (GRCm39)	I488N	probably damaging	Het
Slc38a2	A	T	15: 96,596,153 (GRCm39)		probably null	Het
Slc9a9	G	A	9: 95,020,043 (GRCm39)		probably benign	Het
Tk2	T	A	8: 104,970,073 (GRCm39)	I64F	probably damaging	Het
Virma	G	A	4: 11,548,770 (GRCm39)	W1776*	probably null	Het
Vrk1	C	T	12: 106,002,847 (GRCm39)	A15V	probably benign	Het
Wdfy3	T	C	5: 101,992,778 (GRCm39)		probably benign	Het
Wfdc10	T	C	2: 164,499,172 (GRCm39)	V94A	probably benign	Het
Zfp780b	A	T	7: 27,662,600 (GRCm39)	C652S	possibly damaging	Het

Other mutations in Emc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01359:Emc2	APN	15	43,375,145 (GRCm39)	missense	probably damaging	1.00
IGL02815:Emc2	APN	15	43,371,326 (GRCm39)	splice site	probably benign
IGL03238:Emc2	APN	15	43,371,249 (GRCm39)	splice site	probably null
R0433:Emc2	UTSW	15	43,360,520 (GRCm39)	splice site	probably null
R1965:Emc2	UTSW	15	43,390,863 (GRCm39)	missense	probably damaging	1.00
R2373:Emc2	UTSW	15	43,377,154 (GRCm39)	missense	probably damaging	1.00
R2507:Emc2	UTSW	15	43,375,094 (GRCm39)	critical splice acceptor site	probably null
R4986:Emc2	UTSW	15	43,375,180 (GRCm39)	missense	probably benign	0.29
R5212:Emc2	UTSW	15	43,374,240 (GRCm39)	missense	probably damaging	1.00
R5368:Emc2	UTSW	15	43,375,207 (GRCm39)	critical splice donor site	probably null
R5751:Emc2	UTSW	15	43,360,453 (GRCm39)	splice site	probably null
R8136:Emc2	UTSW	15	43,375,202 (GRCm39)	missense	probably benign	0.07
R9242:Emc2	UTSW	15	43,358,639 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02