Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03238:Emc2'

414191

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 #

IGL03238

Quality Score

Status

Chromosome

Chromosomal Location

43340625-43391159 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 43371249 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 null
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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	C	3: 59,932,339 (GRCm39)	T285P	probably benign	Het
Abcf1	T	C	17: 36,274,215 (GRCm39)	K186E	probably damaging	Het
Adam3	T	C	8: 25,177,981 (GRCm39)		probably null	Het
Art1	T	C	7: 101,759,956 (GRCm39)	V85A	possibly damaging	Het
Ccdc110	A	G	8: 46,394,859 (GRCm39)	H250R	probably benign	Het
Cyp3a13	T	A	5: 137,897,151 (GRCm39)	I388F	probably damaging	Het
Dnah11	C	T	12: 118,073,633 (GRCm39)	V1425M	probably damaging	Het
Donson	G	A	16: 91,478,134 (GRCm39)	Q22*	probably null	Het
Eif2b2	A	G	12: 85,270,173 (GRCm39)	T238A	probably benign	Het
Fkbp4	A	T	6: 128,411,720 (GRCm39)	V123E	probably damaging	Het
Frem2	A	T	3: 53,563,682 (GRCm39)	M275K	possibly damaging	Het
Gcat	T	A	15: 78,920,210 (GRCm39)		probably benign	Het
Gemin2	G	A	12: 59,063,748 (GRCm39)		probably benign	Het
Ilf3	T	A	9: 21,303,646 (GRCm39)	V169E	probably damaging	Het
Klra17	T	C	6: 129,845,773 (GRCm39)	H147R	probably benign	Het
Lama5	A	G	2: 179,830,367 (GRCm39)	I1880T	probably benign	Het
Lzts1	T	C	8: 69,591,446 (GRCm39)	D234G	probably damaging	Het
Map3k4	G	A	17: 12,490,045 (GRCm39)	P462L	probably benign	Het
Marchf6	C	A	15: 31,462,087 (GRCm39)		probably benign	Het
Mcm6	A	T	1: 128,283,257 (GRCm39)	F83I	probably benign	Het
Mtpn	A	G	6: 35,499,708 (GRCm39)	L32P	probably damaging	Het
Mybpc3	A	T	2: 90,962,004 (GRCm39)	I841F	probably damaging	Het
Ndst2	G	T	14: 20,778,572 (GRCm39)	H399N	probably damaging	Het
Npat	G	T	9: 53,481,726 (GRCm39)	V1145F	probably damaging	Het
Or51b6	G	A	7: 103,555,717 (GRCm39)	A21T	probably benign	Het
P2ry1	T	A	3: 60,911,916 (GRCm39)	S352T	probably damaging	Het
Plaa	T	C	4: 94,472,133 (GRCm39)	T326A	probably benign	Het
Ppdpf	T	C	2: 180,829,673 (GRCm39)	S43P	probably benign	Het
Prb1b	T	A	6: 132,289,308 (GRCm39)	Q172L	unknown	Het
Setd1a	C	T	7: 127,384,718 (GRCm39)	T523I	possibly damaging	Het
Sgcz	C	T	8: 38,030,294 (GRCm39)		probably null	Het
Slc12a2	T	C	18: 58,047,306 (GRCm39)	Y740H	possibly damaging	Het
Stab2	A	G	10: 86,690,985 (GRCm39)	C745R	probably damaging	Het
Tmem101	A	T	11: 102,046,611 (GRCm39)	L86Q	probably damaging	Het
Tmtc3	A	C	10: 100,313,702 (GRCm39)	F57V	probably damaging	Het
Vps50	A	G	6: 3,594,771 (GRCm39)	K778R	possibly damaging	Het
Washc5	G	A	15: 59,218,691 (GRCm39)	T692M	probably damaging	Het
Zc3hav1	A	T	6: 38,309,685 (GRCm39)	V379D	probably damaging	Het
Zfp142	G	T	1: 74,615,437 (GRCm39)	R459S	probably benign	Het
Zfp512b	A	G	2: 181,231,553 (GRCm39)	V199A	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
IGL02815:Emc2	APN	15	43,371,326 (GRCm39)	splice site	probably benign
IGL03211:Emc2	APN	15	43,371,068 (GRCm39)	nonsense	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