Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02332:Ermard'

288755

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ermard

Ensembl Gene

ENSMUSG00000036552

Gene Name

ER membrane associated RNA degradation

Synonyms

2410011O22Rik, 2210404J11Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.249) question?

Stock #

IGL02332

Quality Score

Status

Chromosome

Chromosomal Location

15041208-15090044 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to C at 14990545 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000060857 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061688]

Predicted Effect

probably null
Transcript: ENSMUST00000061688

SMART Domains

Protein: ENSMUSP00000060857
Gene: ENSMUSG00000116953

Domain	Start	End	E-Value	Type
Pfam:DUF4209	133	214	3.6e-27	PFAM
low complexity region	390	399	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231723

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232182

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018B24Rik	A	G	3: 48,608,888		noncoding transcript	Het
Abca13	A	T	11: 9,291,482	Y1115F	probably damaging	Het
Adam29	T	A	8: 55,871,740	I560F	probably damaging	Het
Bivm	T	C	1: 44,128,720		probably benign	Het
Brinp1	C	A	4: 68,904,884	R24L	probably benign	Het
Cnga1	A	G	5: 72,604,486	Y562H	probably damaging	Het
Cr2	C	A	1: 195,160,322	Q256H	probably benign	Het
Dhcr7	A	T	7: 143,843,128	N119I	probably damaging	Het
Dio1	A	T	4: 107,293,781	Y169N	probably damaging	Het
Dmbt1	C	T	7: 131,066,613		probably benign	Het
Eogt	T	G	6: 97,125,605	H249P	probably damaging	Het
Exoc4	T	C	6: 33,249,240		probably null	Het
Fxr2	G	T	11: 69,649,838		probably null	Het
Glyr1	G	T	16: 5,018,953	T443N	probably damaging	Het
Gm14137	T	G	2: 119,175,326	L122R	probably damaging	Het
Gm4845	C	A	1: 141,256,597		noncoding transcript	Het
Gm8258	A	G	5: 104,775,902		noncoding transcript	Het
Gmps	G	A	3: 63,990,569	R258H	probably benign	Het
Itga6	T	G	2: 71,838,373	L552R	possibly damaging	Het
Itgam	T	A	7: 128,085,674		probably null	Het
Itgb5	G	T	16: 33,920,130	E224*	probably null	Het
Itih4	C	A	14: 30,887,860	A49D	probably damaging	Het
Itpr2	A	T	6: 146,426,542	N64K	probably damaging	Het
Moap1	T	C	12: 102,742,807	Y161C	probably benign	Het
Mst1r	G	T	9: 107,907,826	G228*	probably null	Het
Myo1g	T	C	11: 6,520,766	D30G	possibly damaging	Het
Ndn	T	A	7: 62,348,825	C140S	probably damaging	Het
Nek5	G	T	8: 22,095,261	Q367K	probably benign	Het
Nrd1	A	T	4: 109,000,988	R52S	probably damaging	Het
Nup133	A	T	8: 123,907,832	L1007Q	probably damaging	Het
Olfr1105	T	C	2: 87,034,212	D3G	probably benign	Het
Olfr633	T	C	7: 103,946,920	M118T	probably damaging	Het
Olfr74	A	T	2: 87,974,065	L200Q	probably damaging	Het
P2rx2	T	C	5: 110,341,805	S116G	probably benign	Het
Pcdhb13	G	A	18: 37,443,582	V338M	probably benign	Het
Pdcl2	A	T	5: 76,319,135	Y70*	probably null	Het
Ppm1e	T	C	11: 87,231,742	H463R	probably benign	Het
Ppm1f	T	A	16: 16,914,087	C134S	possibly damaging	Het
Ppp2r3a	A	G	9: 101,180,403	F180L	possibly damaging	Het
Pxn	A	G	5: 115,544,926	S96G	probably benign	Het
Rasa4	G	T	5: 136,095,599	Q167H	probably benign	Het
Rfx8	T	C	1: 39,718,480	I43V	possibly damaging	Het
Sez6	C	T	11: 77,954,742		probably benign	Het
Slc39a6	A	T	18: 24,589,823	D473E	probably benign	Het
Spocd1	A	G	4: 129,949,092	D68G	probably damaging	Het
Syt13	T	C	2: 92,940,804	F79L	probably benign	Het
Tas2r103	A	T	6: 133,036,512	M197K	probably benign	Het
Tbrg4	A	G	11: 6,618,492	V429A	probably damaging	Het
Tuft1	A	C	3: 94,615,768		probably null	Het
Uqcrc1	A	G	9: 108,947,869	T80A	probably damaging	Het
Vps18	A	G	2: 119,293,810	N406S	probably benign	Het
Xrn2	T	A	2: 147,026,590	W188R	probably damaging	Het
Zzef1	T	G	11: 72,916,509	S2738A	probably benign	Het

Other mutations in Ermard

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00725:Ermard	APN	17	14988066	splice site	probably benign
IGL01554:Ermard	APN	17	15051593	missense	possibly damaging	0.94
IGL01832:Ermard	APN	17	15059849	missense	probably damaging	0.98
IGL02045:Ermard	APN	17	15051564	unclassified	probably benign
IGL02525:Ermard	APN	17	15059339	splice site	probably benign
IGL03335:Ermard	APN	17	15059406	missense	probably damaging	1.00
Angelos	UTSW	17	15059770	missense	possibly damaging	0.73
Eminence	UTSW	17	15053205	splice site	probably null
Rechthand	UTSW	17	15059334	splice site	probably benign
PIT4504001:Ermard	UTSW	17	15058822	nonsense	probably null
R0211:Ermard	UTSW	17	15021943	missense	probably damaging	0.99
R0211:Ermard	UTSW	17	15021943	missense	probably damaging	0.99
R0722:Ermard	UTSW	17	15022128	missense	probably benign	0.13
R0785:Ermard	UTSW	17	15021977	missense	probably damaging	1.00
R2019:Ermard	UTSW	17	15053265	missense	probably damaging	1.00
R3696:Ermard	UTSW	17	15053376	missense	probably benign	0.01
R3697:Ermard	UTSW	17	15053376	missense	probably benign	0.01
R4077:Ermard	UTSW	17	15053376	missense	probably benign	0.04
R4383:Ermard	UTSW	17	15059866	missense	possibly damaging	0.87
R5424:Ermard	UTSW	17	15059770	missense	possibly damaging	0.73
R6313:Ermard	UTSW	17	15053205	splice site	probably null
R7685:Ermard	UTSW	17	15059462	missense	probably benign	0.00
R7800:Ermard	UTSW	17	15056803	missense	probably benign	0.01
R7802:Ermard	UTSW	17	15061161	missense	probably benign
R7895:Ermard	UTSW	17	15063613	missense	possibly damaging	0.66
R8203:Ermard	UTSW	17	15020286	missense	possibly damaging	0.73
R8229:Ermard	UTSW	17	15059334	splice site	probably benign
R8318:Ermard	UTSW	17	15022072	missense	possibly damaging	0.86
R8369:Ermard	UTSW	17	15053298	missense	probably damaging	0.99

Posted On

2015-04-16