Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02525:Ermard'

297075

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ermard

Ensembl Gene

ENSMUSG00000036552

Gene Name

ER membrane associated RNA degradation

Synonyms

2210404J11Rik, 2410011O22Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.195) question?

Stock #

IGL02525

Quality Score

Status

Chromosome

Chromosomal Location

15261813-15310307 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 15279601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154319 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040594] [ENSMUST00000097393] [ENSMUST00000227252] [ENSMUST00000228803]

AlphaFold

E9Q048

Predicted Effect

probably benign
Transcript: ENSMUST00000040594

SMART Domains

Protein: ENSMUSP00000043677
Gene: ENSMUSG00000036552

Domain	Start	End	E-Value	Type
transmembrane domain	130	152	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097393

SMART Domains

Protein: ENSMUSP00000095005
Gene: ENSMUSG00000036552

Domain	Start	End	E-Value	Type
Pfam:DUF4209	133	214	3.1e-27	PFAM
low complexity region	390	399	N/A	INTRINSIC
SCOP:g1pnb.1	429	478	4e-3	SMART
low complexity region	583	599	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187199

Predicted Effect

probably benign
Transcript: ENSMUST00000227252

Predicted Effect

probably benign
Transcript: ENSMUST00000228803

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231241

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231568

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains 2 transmembrane domains near the C-terminus and is localized in the endoplasmic reticulum. Knockout of this gene in developing rat brain showed that it may be involved in neuronal migration. Mutations in this gene are associated with periventricular nodular heterotopia-6 (PVNH6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	C	T	8: 25,101,060 (GRCm39)	V701I	probably benign	Het
Adam18	A	G	8: 25,131,783 (GRCm39)		probably benign	Het
Adamts20	G	T	15: 94,180,959 (GRCm39)		probably null	Het
Adgrf5	G	T	17: 43,760,854 (GRCm39)	V850F	probably damaging	Het
Agap2	T	A	10: 126,919,070 (GRCm39)		probably null	Het
Ap4b1	G	A	3: 103,720,164 (GRCm39)	R62K	probably damaging	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
Ccdc12	T	A	9: 110,540,169 (GRCm39)	D120E	probably damaging	Het
Ccdc22	A	G	X: 7,461,249 (GRCm39)	S529P	probably damaging	Het
Cilk1	A	G	9: 78,067,675 (GRCm39)	K390E	probably benign	Het
Col1a2	A	G	6: 4,531,355 (GRCm39)		probably benign	Het
Ddx59	A	T	1: 136,344,743 (GRCm39)	Q138L	probably benign	Het
Dlc1	A	T	8: 37,046,800 (GRCm39)	F1091L	probably damaging	Het
Dnah1	C	T	14: 31,027,790 (GRCm39)	V682M	probably benign	Het
Dock9	C	T	14: 121,877,538 (GRCm39)	D404N	probably damaging	Het
Eif2b4	A	G	5: 31,346,962 (GRCm39)	V402A	probably damaging	Het
Erlin1	T	C	19: 44,027,634 (GRCm39)	H268R	probably benign	Het
Fam43a	A	G	16: 30,419,596 (GRCm39)	K60R	probably benign	Het
Frmd4b	T	A	6: 97,389,494 (GRCm39)	D78V	probably damaging	Het
Gabrq	A	G	X: 71,880,430 (GRCm39)	T308A	possibly damaging	Het
Gipr	A	G	7: 18,893,690 (GRCm39)	C328R	possibly damaging	Het
Gm17078	T	C	14: 51,848,680 (GRCm39)	N19S	possibly damaging	Het
Gm17541	T	C	12: 4,739,907 (GRCm39)		probably benign	Het
Gm21759	T	C	5: 8,229,967 (GRCm39)		probably benign	Het
Gm7964	A	G	7: 83,405,250 (GRCm39)		noncoding transcript	Het
Gspt1	A	G	16: 11,048,854 (GRCm39)	V318A	probably damaging	Het
Gtf2ird2	A	G	5: 134,245,319 (GRCm39)	S526G	probably benign	Het
Hey2	A	G	10: 30,718,643 (GRCm39)	M1T	probably null	Het
Hipk3	T	C	2: 104,301,757 (GRCm39)	D145G	probably damaging	Het
Itgae	A	G	11: 73,021,777 (GRCm39)	D886G	probably damaging	Het
Ktn1	T	A	14: 47,962,200 (GRCm39)		probably null	Het
Med12l	A	G	3: 58,975,789 (GRCm39)	K239R	probably benign	Het
Milr1	A	T	11: 106,656,101 (GRCm39)	M124L	probably benign	Het
Mon1b	G	T	8: 114,365,455 (GRCm39)	R261L	possibly damaging	Het
Mterf1a	G	A	5: 3,941,583 (GRCm39)	S95F	probably benign	Het
Myef2	C	A	2: 124,955,978 (GRCm39)		probably benign	Het
Nfrkb	T	A	9: 31,325,812 (GRCm39)	I1085N	possibly damaging	Het
Or13f5	A	T	4: 52,825,616 (GRCm39)	Y73F	probably damaging	Het
Or8d2	T	A	9: 38,759,536 (GRCm39)	M42K	possibly damaging	Het
Prodh	G	A	16: 17,890,332 (GRCm39)	Q430*	probably null	Het
Pstk	G	T	7: 130,972,922 (GRCm39)	R7L	probably benign	Het
Ptgr1	C	A	4: 58,978,067 (GRCm39)	E108D	probably benign	Het
Ptpn9	T	A	9: 56,944,009 (GRCm39)	Y294*	probably null	Het
Rnls	C	T	19: 33,115,614 (GRCm39)	V153M	possibly damaging	Het
Ros1	T	C	10: 51,992,138 (GRCm39)	T1362A	possibly damaging	Het
Samt3	G	A	X: 85,090,527 (GRCm39)	A140T	possibly damaging	Het
Sbpl	T	A	17: 24,173,837 (GRCm39)	M16L	unknown	Het
Sephs1	G	A	2: 4,911,407 (GRCm39)	C327Y	probably damaging	Het
Slc13a1	A	T	6: 24,137,135 (GRCm39)	I93N	probably damaging	Het
Slc34a1	T	C	13: 55,551,051 (GRCm39)		probably benign	Het
Slc7a9	T	C	7: 35,152,860 (GRCm39)	S93P	probably damaging	Het
Slx4	A	G	16: 3,798,461 (GRCm39)	S1444P	probably damaging	Het
Spmap2l	T	A	5: 77,164,400 (GRCm39)	D134E	probably benign	Het
Stk32b	C	T	5: 37,688,977 (GRCm39)	V116M	probably damaging	Het
Supt5	A	G	7: 28,018,372 (GRCm39)		probably benign	Het
Syne2	T	A	12: 76,147,777 (GRCm39)	S6439T	probably damaging	Het
Taar7d	A	G	10: 23,903,994 (GRCm39)	D292G	possibly damaging	Het
Tal2	A	T	4: 53,785,971 (GRCm39)	I51F	probably damaging	Het
Tk2	A	T	8: 104,970,032 (GRCm39)	N77K	probably benign	Het
Tmprss3	T	A	17: 31,413,865 (GRCm39)		probably benign	Het
Tnfrsf10b	T	C	14: 70,019,825 (GRCm39)	M319T	probably damaging	Het
Trim24	A	G	6: 37,922,653 (GRCm39)	R417G	probably damaging	Het
Ttn	C	A	2: 76,594,658 (GRCm39)	G18717*	probably null	Het
Vmn2r102	A	G	17: 19,901,447 (GRCm39)	T525A	probably benign	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het
Wnt3	C	T	11: 103,703,296 (GRCm39)	R260W	probably damaging	Het
Xdh	T	A	17: 74,231,990 (GRCm39)	Q240L	possibly damaging	Het
Zbtb5	T	C	4: 44,994,731 (GRCm39)	T218A	probably benign	Het
Znfx1	C	T	2: 166,879,457 (GRCm39)	E776K	probably benign	Het

Other mutations in Ermard

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00725:Ermard	APN	17	15,208,328 (GRCm39)	splice site	probably benign
IGL01554:Ermard	APN	17	15,271,855 (GRCm39)	missense	possibly damaging	0.94
IGL01832:Ermard	APN	17	15,280,111 (GRCm39)	missense	probably damaging	0.98
IGL02045:Ermard	APN	17	15,271,826 (GRCm39)	unclassified	probably benign
IGL02332:Ermard	APN	17	15,210,807 (GRCm39)	critical splice acceptor site	probably null
IGL03335:Ermard	APN	17	15,279,668 (GRCm39)	missense	probably damaging	1.00
Angelos	UTSW	17	15,280,032 (GRCm39)	missense	possibly damaging	0.73
Eminence	UTSW	17	15,273,467 (GRCm39)	splice site	probably null
R8203_ermard_787	UTSW	17	15,240,548 (GRCm39)	missense	possibly damaging	0.73
Rechthand	UTSW	17	15,279,596 (GRCm39)	splice site	probably benign
sanctus	UTSW	17	15,273,643 (GRCm39)	missense	probably benign	0.00
PIT4504001:Ermard	UTSW	17	15,279,084 (GRCm39)	nonsense	probably null
R0211:Ermard	UTSW	17	15,242,205 (GRCm39)	missense	probably damaging	0.99
R0211:Ermard	UTSW	17	15,242,205 (GRCm39)	missense	probably damaging	0.99
R0722:Ermard	UTSW	17	15,242,390 (GRCm39)	missense	probably benign	0.13
R0785:Ermard	UTSW	17	15,242,239 (GRCm39)	missense	probably damaging	1.00
R2019:Ermard	UTSW	17	15,273,527 (GRCm39)	missense	probably damaging	1.00
R3696:Ermard	UTSW	17	15,273,638 (GRCm39)	missense	probably benign	0.01
R3697:Ermard	UTSW	17	15,273,638 (GRCm39)	missense	probably benign	0.01
R4077:Ermard	UTSW	17	15,273,638 (GRCm39)	missense	probably benign	0.04
R4383:Ermard	UTSW	17	15,280,128 (GRCm39)	missense	possibly damaging	0.87
R5424:Ermard	UTSW	17	15,280,032 (GRCm39)	missense	possibly damaging	0.73
R6313:Ermard	UTSW	17	15,273,467 (GRCm39)	splice site	probably null
R7685:Ermard	UTSW	17	15,279,724 (GRCm39)	missense	probably benign	0.00
R7800:Ermard	UTSW	17	15,277,065 (GRCm39)	missense	probably benign	0.01
R7802:Ermard	UTSW	17	15,281,423 (GRCm39)	missense	probably benign
R7895:Ermard	UTSW	17	15,283,875 (GRCm39)	missense	possibly damaging	0.66
R8203:Ermard	UTSW	17	15,240,548 (GRCm39)	missense	possibly damaging	0.73
R8229:Ermard	UTSW	17	15,279,596 (GRCm39)	splice site	probably benign
R8318:Ermard	UTSW	17	15,242,334 (GRCm39)	missense	possibly damaging	0.86
R8369:Ermard	UTSW	17	15,273,560 (GRCm39)	missense	probably damaging	0.99
R9179:Ermard	UTSW	17	15,273,495 (GRCm39)	missense	probably damaging	1.00
R9329:Ermard	UTSW	17	15,273,643 (GRCm39)	missense	probably benign	0.00
R9449:Ermard	UTSW	17	15,273,554 (GRCm39)	missense	possibly damaging	0.95
R9506:Ermard	UTSW	17	15,281,368 (GRCm39)	missense	probably damaging	1.00
R9792:Ermard	UTSW	17	15,281,441 (GRCm39)	missense	probably damaging	1.00
R9793:Ermard	UTSW	17	15,281,441 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16