Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01359:Emc2'

75646

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 #

IGL01359

Quality Score

Status

Chromosome

Chromosomal Location

43340625-43391159 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43375145 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 214 (Y214C)

Ref Sequence

ENSEMBL: ENSMUSP00000022962 (fasta)

Gene Model

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

AlphaFold

Q9CRD2

Predicted Effect

probably damaging
Transcript: ENSMUST00000022962
AA Change: Y214C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022962
Gene: ENSMUSG00000022337
AA Change: Y214C

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf1	G	A	17: 43,621,577 (GRCm39)	E605K	probably damaging	Het
Adgrl4	G	A	3: 151,248,923 (GRCm39)	C737Y	probably damaging	Het
Ankk1	A	T	9: 49,327,328 (GRCm39)	I617N	possibly damaging	Het
B3gat2	T	C	1: 23,802,301 (GRCm39)	F196L	probably damaging	Het
Bcl2l14	T	A	6: 134,400,828 (GRCm39)	I83N	probably damaging	Het
Bcr	T	C	10: 74,995,611 (GRCm39)		probably benign	Het
Ckmt2	A	T	13: 92,009,939 (GRCm39)	I127N	probably damaging	Het
Dhx33	G	A	11: 70,884,687 (GRCm39)	Q40*	probably null	Het
Dnah11	T	C	12: 117,946,734 (GRCm39)	T3117A	probably damaging	Het
Dnai2	A	G	11: 114,642,614 (GRCm39)	Y405C	probably benign	Het
Fbxw2	T	C	2: 34,712,762 (GRCm39)	T100A	probably benign	Het
Fkrp	C	T	7: 16,545,415 (GRCm39)	R149Q	probably benign	Het
Fsd1l	A	G	4: 53,659,601 (GRCm39)	R153G	possibly damaging	Het
Galnt4	T	C	10: 98,945,459 (GRCm39)	Y395H	probably damaging	Het
Gk5	T	C	9: 96,019,842 (GRCm39)	L126P	probably damaging	Het
Gm973	A	G	1: 59,669,438 (GRCm39)	S830G	probably benign	Het
Gpc5	G	A	14: 115,607,162 (GRCm39)	G255S	possibly damaging	Het
Grk3	C	A	5: 113,085,626 (GRCm39)	S370I	probably damaging	Het
Herc1	A	G	9: 66,346,550 (GRCm39)	D1972G	probably benign	Het
Itih3	T	A	14: 30,639,729 (GRCm39)	D364V	probably damaging	Het
Lce1f	G	T	3: 92,626,491 (GRCm39)	C55*	probably null	Het
Ltn1	A	C	16: 87,202,581 (GRCm39)		probably benign	Het
Lyl1	C	T	8: 85,429,315 (GRCm39)	A8V	possibly damaging	Het
Mdn1	A	G	4: 32,743,686 (GRCm39)	E3974G	probably benign	Het
Msl3l2	T	C	10: 55,992,340 (GRCm39)	V355A	probably damaging	Het
Nadsyn1	T	C	7: 143,374,967 (GRCm39)	I30V	possibly damaging	Het
Nuggc	T	C	14: 65,860,656 (GRCm39)	V418A	probably damaging	Het
Or4f57	A	T	2: 111,791,406 (GRCm39)	M4K	probably benign	Het
Or52e8	T	C	7: 104,625,193 (GRCm39)		probably null	Het
Or52m2	A	T	7: 102,263,379 (GRCm39)	H272Q	probably benign	Het
Ppp4r3a	T	C	12: 101,024,755 (GRCm39)	E248G	probably damaging	Het
Rab3gap2	T	A	1: 184,971,067 (GRCm39)	V234E	probably damaging	Het
Radil	G	A	5: 142,529,468 (GRCm39)	T105I	probably damaging	Het
Saa4	A	G	7: 46,381,060 (GRCm39)	W21R	possibly damaging	Het
Sec62	G	A	3: 30,868,455 (GRCm39)	S228N	unknown	Het
Setd4	C	T	16: 93,388,127 (GRCm39)	G120S	probably damaging	Het
Sgpl1	G	A	10: 60,936,687 (GRCm39)	T556I	probably benign	Het
Slc14a2	T	C	18: 78,197,323 (GRCm39)	D811G	probably benign	Het
Slc26a11	A	T	11: 119,254,257 (GRCm39)	M192L	probably benign	Het
Spon1	A	T	7: 113,633,525 (GRCm39)	Q656L	probably damaging	Het
Tex15	A	G	8: 34,071,926 (GRCm39)	D2491G	probably damaging	Het
Tox	T	C	4: 6,697,583 (GRCm39)	T407A	probably damaging	Het
Ubr5	A	T	15: 37,973,250 (GRCm39)	I2611N	probably damaging	Het
Usp25	G	A	16: 76,856,141 (GRCm39)	A245T	probably damaging	Het
Vwa8	C	A	14: 79,302,353 (GRCm39)	Y1007*	probably null	Het
Zfp423	T	C	8: 88,507,290 (GRCm39)	H893R	probably damaging	Het
Zfp507	A	G	7: 35,493,927 (GRCm39)	I372T	probably damaging	Het

Other mutations in Emc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02815:Emc2	APN	15	43,371,326 (GRCm39)	splice site	probably benign
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

2013-10-07