Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02815:Emc2'

360787

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 #

IGL02815

Quality Score

Status

Chromosome

Chromosomal Location

43340625-43391159 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 43371326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022962 (fasta)

Gene Model

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

AlphaFold

Q9CRD2

Predicted Effect

probably benign
Transcript: ENSMUST00000022962

SMART Domains

Protein: ENSMUSP00000022962
Gene: ENSMUSG00000022337

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	A	T	6: 40,941,729 (GRCm39)	I3F	probably benign	Het
Alms1	G	A	6: 85,644,939 (GRCm39)		probably null	Het
Ap3m1	T	C	14: 21,086,750 (GRCm39)	D393G	probably damaging	Het
Arfgef3	T	A	10: 18,528,299 (GRCm39)	I363F	probably damaging	Het
Col19a1	T	A	1: 24,324,332 (GRCm39)		probably null	Het
Csnk2a1	G	T	2: 152,116,005 (GRCm39)		probably benign	Het
Dnmt3a	G	A	12: 3,954,226 (GRCm39)		probably null	Het
Epm2aip1	T	C	9: 111,102,628 (GRCm39)	S534P	probably benign	Het
Farp2	A	C	1: 93,488,007 (GRCm39)	N78T	probably damaging	Het
Fut8	T	A	12: 77,411,857 (GRCm39)	N106K	probably benign	Het
Gc	A	G	5: 89,605,518 (GRCm39)		probably null	Het
Gemin5	T	C	11: 58,037,235 (GRCm39)	Y660C	probably damaging	Het
Gfpt2	T	A	11: 49,714,084 (GRCm39)	D280E	possibly damaging	Het
Il16	T	C	7: 83,300,249 (GRCm39)	E348G	probably damaging	Het
Ints1	G	A	5: 139,741,037 (GRCm39)	T1874M	probably damaging	Het
Klrb1b	A	G	6: 128,797,937 (GRCm39)	L52P	probably damaging	Het
Lamb3	A	T	1: 193,007,863 (GRCm39)		probably benign	Het
Med17	A	C	9: 15,173,563 (GRCm39)	M637R	probably damaging	Het
Myo18b	A	G	5: 112,957,601 (GRCm39)	L1454P	probably damaging	Het
Mysm1	A	T	4: 94,845,285 (GRCm39)		probably null	Het
Naip5	T	C	13: 100,359,239 (GRCm39)	T666A	probably benign	Het
Nbas	T	A	12: 13,360,267 (GRCm39)	S348T	probably damaging	Het
Pex1	A	T	5: 3,686,797 (GRCm39)	K1226M	probably damaging	Het
Pi4ka	A	G	16: 17,176,753 (GRCm39)		probably benign	Het
Pigr	T	A	1: 130,769,558 (GRCm39)	V123D	probably damaging	Het
Pilra	G	A	5: 137,829,567 (GRCm39)	P163S	probably benign	Het
Plekha4	T	C	7: 45,187,836 (GRCm39)	S303P	probably damaging	Het
Prrc2b	A	G	2: 32,094,265 (GRCm39)	E549G	probably damaging	Het
Ptchd3	C	T	11: 121,732,430 (GRCm39)	S440L	probably benign	Het
Rock2	A	G	12: 17,016,702 (GRCm39)		probably benign	Het
Scn1a	A	G	2: 66,155,202 (GRCm39)	S586P	probably damaging	Het
Slc38a6	T	A	12: 73,338,979 (GRCm39)	H95Q	probably damaging	Het
Spata31d1d	A	T	13: 59,874,678 (GRCm39)	N952K	possibly damaging	Het
Stard10	T	A	7: 100,993,205 (GRCm39)	C254S	probably benign	Het
Taar8a	A	T	10: 23,953,278 (GRCm39)	Y294F	probably benign	Het
Tm7sf3	A	T	6: 146,514,971 (GRCm39)		probably null	Het
Tnfrsf8	A	T	4: 145,025,348 (GRCm39)	V75D	possibly damaging	Het
Tor1aip1	C	T	1: 155,911,662 (GRCm39)	R107H	probably damaging	Het
Trpc4	C	T	3: 54,206,695 (GRCm39)		probably benign	Het
Unc13c	A	G	9: 73,447,545 (GRCm39)	L1885P	possibly damaging	Het
Vmn2r9	T	C	5: 108,990,856 (GRCm39)	D835G	possibly damaging	Het
Zfp462	A	T	4: 55,051,303 (GRCm39)	I1172F	probably 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
IGL03211:Emc2	APN	15	43,371,068 (GRCm39)	nonsense	probably null
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

2015-12-18