Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02357:Emb'

290607

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Emb

Ensembl Gene

ENSMUSG00000021728

Gene Name

embigin

Synonyms

Gp70

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

IGL02357

Quality Score

Status

Chromosome

Chromosomal Location

117208536-117274415 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 117249471 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153512 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022242] [ENSMUST00000225981]

Predicted Effect

probably benign
Transcript: ENSMUST00000022242

SMART Domains

Protein: ENSMUSP00000022242
Gene: ENSMUSG00000021728

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
IG_like	74	161	3.47e1	SMART
IG	167	258	2.13e-7	SMART
transmembrane domain	267	289	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225648

Predicted Effect

probably benign
Transcript: ENSMUST00000225981

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane glycoprotein that is a member of the immunoglobulin superfamily. The encoded protein may be involved in cell growth and development by mediating interactions between the cell and extracellular matrix. A pseudogene of this gene is found on chromosome 1. [provided by RefSeq, Jan 2009]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110035E14Rik	T	C	1: 9,613,319	I44T	possibly damaging	Het
Abhd8	A	G	8: 71,461,477	V169A	probably benign	Het
Adamts16	T	A	13: 70,738,585	T1029S	probably benign	Het
Adgrv1	C	A	13: 81,270,855	C6007F	probably benign	Het
Ak8	A	T	2: 28,700,213	H8L	probably benign	Het
Apol7b	A	G	15: 77,423,632	V221A	probably benign	Het
BC005624	G	A	2: 30,973,767	P235S	probably benign	Het
Casp9	C	A	4: 141,805,472	D226E	probably benign	Het
Cd96	A	G	16: 46,069,776		probably benign	Het
Celf1	A	T	2: 90,998,588	K27I	probably damaging	Het
Cfap65	A	T	1: 74,928,348	C190*	probably null	Het
Cib2	A	T	9: 54,549,886	H31Q	probably damaging	Het
Cyp3a59	T	C	5: 146,079,342	L3P	probably damaging	Het
Dnajc13	T	C	9: 104,162,359	M2104V	possibly damaging	Het
Fbn2	G	T	18: 58,103,995	N645K	possibly damaging	Het
Fes	T	C	7: 80,383,830		probably null	Het
Flnc	A	T	6: 29,438,493	K129*	probably null	Het
Gckr	C	A	5: 31,307,790	H368N	possibly damaging	Het
Gm5145	A	T	17: 20,570,440	I27F	probably damaging	Het
Hecw1	A	G	13: 14,248,338		probably null	Het
Hook2	C	T	8: 84,994,985	Q291*	probably null	Het
Jakmip2	T	C	18: 43,547,127	T722A	possibly damaging	Het
Kcnt2	A	G	1: 140,351,269	I53V	probably benign	Het
Lipo2	A	G	19: 33,730,948	L222P	possibly damaging	Het
Mrc2	A	G	11: 105,325,721	D112G	probably damaging	Het
Mroh2b	A	G	15: 4,912,000	N338S	probably benign	Het
Mrpl23	T	A	7: 142,536,065		probably benign	Het
Myo18a	A	G	11: 77,850,247	N1442S	probably benign	Het
Ngdn	T	A	14: 55,021,936	V179E	probably damaging	Het
Nxn	A	G	11: 76,274,654		probably benign	Het
Olfr1349	T	A	7: 6,515,226	M68L	probably damaging	Het
Olfr1535	A	G	13: 21,555,602	L140P	probably damaging	Het
Osmr	A	T	15: 6,828,663	N441K	probably benign	Het
Plcb3	A	C	19: 6,958,178	L789R	probably damaging	Het
Plek	C	T	11: 16,981,846	R335H	probably damaging	Het
Pmp22	G	T	11: 63,158,308	V126F	probably benign	Het
Prom1	A	G	5: 44,029,604		probably benign	Het
Prss1	C	A	6: 41,463,205	Q159K	probably damaging	Het
Psd3	G	T	8: 67,963,869	H459N	probably benign	Het
Rusc2	T	G	4: 43,425,351	V1152G	possibly damaging	Het
Slc16a4	A	G	3: 107,303,099	I362V	probably benign	Het
Slc22a22	A	G	15: 57,247,448	V461A	probably benign	Het
Slc35e4	C	T	11: 3,912,640	R183Q	probably benign	Het
Spen	T	C	4: 141,477,579	T1246A	unknown	Het
Syt16	T	C	12: 74,266,842	V514A	probably benign	Het
Tdpoz2	A	G	3: 93,652,428	V79A	possibly damaging	Het
Tpgs1	A	G	10: 79,675,759	D245G	probably benign	Het
Ttn	A	G	2: 76,709,619	V34341A	probably benign	Het
Wwox	T	C	8: 114,712,142	V316A	possibly damaging	Het

Other mutations in Emb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01406:Emb	APN	13	117268930	missense	probably damaging	1.00
IGL01613:Emb	APN	13	117272078	missense	probably damaging	1.00
IGL01780:Emb	APN	13	117249471	unclassified	probably benign
IGL02187:Emb	APN	13	117268971	splice site	probably benign
IGL02350:Emb	APN	13	117249471	unclassified	probably benign
IGL02728:Emb	APN	13	117232765	missense	probably benign	0.39
IGL02948:Emb	APN	13	117273066	utr 3 prime	probably benign
R0098:Emb	UTSW	13	117267498	missense	probably damaging	1.00
R0098:Emb	UTSW	13	117267498	missense	probably damaging	1.00
R0540:Emb	UTSW	13	117232750	missense	possibly damaging	0.81
R0607:Emb	UTSW	13	117232750	missense	possibly damaging	0.81
R1421:Emb	UTSW	13	117272088	missense	probably benign	0.00
R1749:Emb	UTSW	13	117249706	missense	possibly damaging	0.62
R2129:Emb	UTSW	13	117267546	missense	probably damaging	1.00
R3896:Emb	UTSW	13	117273062	makesense	probably null
R4371:Emb	UTSW	13	117268930	missense	probably damaging	1.00
R4990:Emb	UTSW	13	117264510	missense	probably damaging	1.00
R5398:Emb	UTSW	13	117267552	missense	probably damaging	0.97
R5949:Emb	UTSW	13	117267392	missense	probably benign	0.13
R6330:Emb	UTSW	13	117249130	splice site	probably null
R7221:Emb	UTSW	13	117267477	missense	probably damaging	1.00
R7479:Emb	UTSW	13	117249426	missense	possibly damaging	0.51
R7548:Emb	UTSW	13	117272054	missense	possibly damaging	0.94
R7557:Emb	UTSW	13	117249716	missense	probably benign	0.21
R7605:Emb	UTSW	13	117264510	missense	probably damaging	1.00

Posted On

2015-04-16