Mutagenetix > Incidental Mutations

Incidental Mutation 'R1421:Emb'

159829

Institutional Source

Beutler Lab

Gene Symbol

Emb

Ensembl Gene

ENSMUSG00000021728

Gene Name

embigin

Synonyms

Gp70

MMRRC Submission

039477-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R1421 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117208536-117274415 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 117272088 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 322 (Y322H)

Ref Sequence

ENSEMBL: ENSMUSP00000022242 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000022242
AA Change: Y322H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000022242
Gene: ENSMUSG00000021728
AA Change: Y322H

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.7%

Validation Efficiency

96% (54/56)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933416C03Rik	A	G	10: 116,113,438	V61A	probably damaging	Het
A2ml1	T	C	6: 128,543,960	T1344A	probably benign	Het
Abcf1	G	A	17: 35,960,909	A375V	probably damaging	Het
Adam20	T	A	8: 40,796,747	H631Q	possibly damaging	Het
Adcy10	T	C	1: 165,563,947	S1258P	probably damaging	Het
Agtpbp1	A	G	13: 59,495,575	I717T	possibly damaging	Het
Ahnak	T	A	19: 9,015,631	F4760I	possibly damaging	Het
Ano6	A	G	15: 95,913,385	K122R	probably benign	Het
Arhgap5	T	C	12: 52,516,848	C201R	probably damaging	Het
Atg16l1	T	C	1: 87,786,358		probably benign	Het
Cdhr3	A	T	12: 33,060,292	I331K	probably damaging	Het
Coq8a	A	G	1: 180,170,441		probably benign	Het
Crebbp	A	G	16: 4,124,647	V662A	probably damaging	Het
Cspg4	T	A	9: 56,896,626	M1667K	probably benign	Het
Dnah7a	A	G	1: 53,540,873		probably benign	Het
Dnajc6	A	T	4: 101,611,316	Y251F	probably damaging	Het
Dpy19l4	A	T	4: 11,304,011	M133K	probably benign	Het
Fam196a	A	T	7: 134,899,231		probably benign	Het
Gcm1	A	T	9: 78,059,700	H67L	probably damaging	Het
Gls2	A	T	10: 128,201,348	K253*	probably null	Het
Gm28042	T	A	2: 120,036,463	S196T	probably benign	Het
Gm43302	T	C	5: 105,217,349	T598A	probably benign	Het
Gramd1a	T	A	7: 31,142,866	Q90L	probably damaging	Het
Grhl2	A	G	15: 37,309,716	Y352C	probably damaging	Het
Ifi203-ps	T	C	1: 173,797,997		noncoding transcript	Het
Ifitm2	T	C	7: 140,955,059	I121V	probably benign	Het
Kptn	T	G	7: 16,123,024		probably benign	Het
L2hgdh	C	T	12: 69,701,318	D345N	probably benign	Het
Lgals12	T	C	19: 7,606,714	H6R	probably benign	Het
Lrrc4b	A	G	7: 44,461,051	I116V	probably benign	Het
Misp	A	G	10: 79,826,847	D366G	probably damaging	Het
Nav1	T	C	1: 135,585,010	E104G	probably damaging	Het
Nup155	A	T	15: 8,157,760	H1391L	probably damaging	Het
Parp1	T	C	1: 180,600,088		probably benign	Het
Pikfyve	G	A	1: 65,271,311	G1919D	probably damaging	Het
Pomt1	A	G	2: 32,236,753		probably benign	Het
Prrc2b	C	T	2: 32,200,978	S454F	possibly damaging	Het
Selenbp1	T	C	3: 94,943,872	S360P	probably benign	Het
Slc6a12	T	A	6: 121,359,126	I352N	probably damaging	Het
Snx9	G	A	17: 5,902,484	G197D	probably benign	Het
Ston1	T	C	17: 88,635,793	V209A	probably benign	Het
Tex36	A	T	7: 133,595,349		probably null	Het
Tnnt3	A	G	7: 142,511,366	E108G	probably damaging	Het
Vmn2r98	T	A	17: 19,065,178	F87I	probably damaging	Het
Vwa8	C	T	14: 78,908,230	R116C	probably damaging	Het
Wdr64	T	C	1: 175,767,150	I479T	possibly damaging	Het
Xrcc5	A	G	1: 72,310,477	N22D	probably benign	Het
Zfp407	C	T	18: 84,559,773	A1072T	probably benign	Het
Zfp735	C	A	11: 73,710,697	L156I	probably benign	Het
Zfp820	A	T	17: 21,819,880	Y156N	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
IGL02357: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
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	unclassified	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

Predicted Primers

PCR Primer
(F):5'- CCTCCCTAAGCAATGGCGTATGGAA -3'
(R):5'- ATTCAAGGACAAGTGAACTGGGTCTTTT -3'

Sequencing Primer
(F):5'- TGGCGTATGGAAAATCATTGTTC -3'
(R):5'- gcactgcctgctcagtc -3'

Posted On

2014-03-14