Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01620:Emc7'

92503

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Emc7

Ensembl Gene

ENSMUSG00000055943

Gene Name

ER membrane protein complex subunit 7

Synonyms

2900064A13Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.936) question?

Stock #

IGL01620

Quality Score

Status

Chromosome

Chromosomal Location

112285342-112302507 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 112295119 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 177 (L177H)

Ref Sequence

ENSEMBL: ENSMUSP00000068610 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069747]

AlphaFold

Q9EP72

Predicted Effect

probably damaging
Transcript: ENSMUST00000069747
AA Change: L177H

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

SMART Domains

Protein: ENSMUSP00000068610
Gene: ENSMUSG00000055943
AA Change: L177H

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	23	39	N/A	INTRINSIC
Pfam:DUF2012	55	167	1.7e-37	PFAM
low complexity region	218	239	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104517

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mice are not viable. Male heterozygous mice exhibited an increased anxiety-like response during stress-induced hyperthermia testing. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	T	15: 102,248,385 (GRCm39)	V277D	probably damaging	Het
Akap9	T	A	5: 4,010,218 (GRCm39)	V325D	probably benign	Het
Ambra1	A	G	2: 91,741,757 (GRCm39)		probably null	Het
Ano9	A	G	7: 140,690,352 (GRCm39)	L94P	probably damaging	Het
Atad3a	G	T	4: 155,830,535 (GRCm39)	T521K	probably damaging	Het
Bckdk	A	G	7: 127,504,948 (GRCm39)	K126E	possibly damaging	Het
Bdp1	A	T	13: 100,220,713 (GRCm39)		probably benign	Het
Btbd17	T	C	11: 114,686,599 (GRCm39)	T26A	probably benign	Het
Cadps2	G	A	6: 23,587,461 (GRCm39)	S314L	probably benign	Het
Ccl8	A	T	11: 82,007,435 (GRCm39)	Q90L	probably damaging	Het
Chit1	T	C	1: 134,078,257 (GRCm39)	V355A	probably damaging	Het
Col17a1	A	G	19: 47,656,978 (GRCm39)	I555T	possibly damaging	Het
Dmwd	T	A	7: 18,815,159 (GRCm39)		probably null	Het
Dtna	T	C	18: 23,758,144 (GRCm39)	I483T	probably damaging	Het
Eloc	T	A	1: 16,713,502 (GRCm39)		probably benign	Het
Emsy	T	A	7: 98,275,831 (GRCm39)	K352I	probably damaging	Het
Ermn	T	C	2: 57,942,502 (GRCm39)	E76G	probably benign	Het
Flot1	A	T	17: 36,140,763 (GRCm39)	E203V	possibly damaging	Het
Hsd11b2	A	G	8: 106,249,529 (GRCm39)	K266R	probably benign	Het
Iqck	A	T	7: 118,476,901 (GRCm39)	K154M	probably damaging	Het
Itgb5	T	A	16: 33,740,168 (GRCm39)	V426E	probably damaging	Het
Kash5	T	C	7: 44,839,384 (GRCm39)	D359G	probably damaging	Het
Kif13a	T	C	13: 47,018,296 (GRCm39)	K53R	probably benign	Het
Klhl2	A	T	8: 65,232,772 (GRCm39)	H168Q	probably damaging	Het
Lpcat2b	T	C	5: 107,581,759 (GRCm39)	Y363H	probably damaging	Het
Lrp6	A	T	6: 134,488,225 (GRCm39)	N290K	probably damaging	Het
Map2k3	T	C	11: 60,840,873 (GRCm39)	F301L	possibly damaging	Het
Mns1	A	G	9: 72,364,195 (GRCm39)		probably benign	Het
Nos1	A	G	5: 118,043,374 (GRCm39)		probably null	Het
Or1j17	T	A	2: 36,578,550 (GRCm39)	C179S	probably damaging	Het
Or52h7	T	A	7: 104,214,220 (GRCm39)	V264D	probably damaging	Het
Pask	A	T	1: 93,237,844 (GRCm39)	H1374Q	possibly damaging	Het
Pik3r1	G	A	13: 101,822,728 (GRCm39)	A658V	probably damaging	Het
Ppp2r2a	A	T	14: 67,307,726 (GRCm39)	F14I	probably damaging	Het
Ptprc	C	T	1: 137,996,148 (GRCm39)	E904K	possibly damaging	Het
Rab11fip4	G	T	11: 79,582,705 (GRCm39)	D591Y	possibly damaging	Het
Rab3gap2	A	G	1: 184,936,523 (GRCm39)	T29A	probably benign	Het
Rgs19	A	G	2: 181,331,381 (GRCm39)	V84A	possibly damaging	Het
Shisa6	T	G	11: 66,108,705 (GRCm39)	M391L	probably benign	Het
Sipa1l1	G	A	12: 82,469,263 (GRCm39)	G1254D	probably damaging	Het
Slfn8	A	T	11: 82,895,059 (GRCm39)	Y358*	probably null	Het
Taf3	G	T	2: 9,957,472 (GRCm39)	R232S	probably benign	Het
Terb2	T	A	2: 122,035,338 (GRCm39)	H186Q	possibly damaging	Het
Trav13n-4	T	C	14: 53,601,473 (GRCm39)	S81P	probably damaging	Het
Trim30d	G	T	7: 104,121,333 (GRCm39)	P321T	possibly damaging	Het
Tyrp1	G	T	4: 80,763,039 (GRCm39)	G309*	probably null	Het
Vps13d	C	A	4: 144,821,437 (GRCm39)	G2979V	possibly damaging	Het

Other mutations in Emc7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0025:Emc7	UTSW	2	112,289,830 (GRCm39)	missense	probably damaging	0.99
R0452:Emc7	UTSW	2	112,297,314 (GRCm39)	splice site	probably benign
R0714:Emc7	UTSW	2	112,293,277 (GRCm39)	missense	possibly damaging	0.93
R4524:Emc7	UTSW	2	112,285,609 (GRCm39)	missense	probably damaging	0.99
R5953:Emc7	UTSW	2	112,289,903 (GRCm39)	missense	probably damaging	1.00
R7643:Emc7	UTSW	2	112,285,624 (GRCm39)	missense	probably benign	0.01

Posted On

2013-12-09