Mutagenetix > Incidental Mutations

Incidental Mutation 'R2129:Emb'

227874

Institutional Source

Beutler Lab

Gene Symbol

Emb

Ensembl Gene

ENSMUSG00000021728

Gene Name

embigin

Synonyms

Gp70

MMRRC Submission

040132-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R2129 (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 117267546 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 278 (V278A)

Ref Sequence

ENSEMBL: ENSMUSP00000022242 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000022242
AA Change: V278A

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

SMART Domains

Protein: ENSMUSP00000022242
Gene: ENSMUSG00000021728
AA Change: V278A

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

Meta Mutation Damage Score

0.7463

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

99% (91/92)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	G	10: 87,230,204	E249G	possibly damaging	Het
2610028H24Rik	A	G	10: 76,457,515	M136V	possibly damaging	Het
4930523C07Rik	A	T	1: 160,075,375	K72*	probably null	Het
Abhd14a	A	T	9: 106,440,865	L125Q	probably null	Het
Abhd17b	T	A	19: 21,681,049		probably null	Het
Abo	G	A	2: 26,846,574	T61I	probably benign	Het
Adamts15	T	C	9: 30,904,503	T686A	probably benign	Het
Adgrv1	A	T	13: 81,557,080	F1537Y	probably damaging	Het
Anxa2	A	T	9: 69,476,128	Y75F	possibly damaging	Het
Aqp3	T	A	4: 41,098,061	I17F	probably benign	Het
Aspm	T	C	1: 139,457,635	V339A	probably benign	Het
BC055324	T	C	1: 163,966,457	Y518C	probably damaging	Het
Bri3bp	T	A	5: 125,451,671	L48*	probably null	Het
Car7	T	A	8: 104,548,973	C185S	possibly damaging	Het
Casp8ap2	T	C	4: 32,640,142	Y399H	probably benign	Het
Ces4a	G	A	8: 105,138,097	G69S	probably damaging	Het
Chst10	A	G	1: 38,865,695	Y203H	probably benign	Het
Clca1	T	C	3: 145,016,765	D282G	probably damaging	Het
Coq3	T	G	4: 21,900,342	S190A	probably benign	Het
Crocc	G	A	4: 141,017,096	R1830C	probably damaging	Het
Cygb	A	G	11: 116,649,842	L106P	probably damaging	Het
Dab2	G	T	15: 6,336,383	E87*	probably null	Het
Dcst1	T	A	3: 89,357,545	I299F	probably damaging	Het
Dennd4a	T	G	9: 64,905,974		probably null	Het
Depdc7	A	G	2: 104,728,173	S168P	probably benign	Het
Dicer1	G	A	12: 104,722,031	T429I	probably damaging	Het
Dnah5	A	G	15: 28,408,321	Q3484R	probably benign	Het
Dock2	T	C	11: 34,727,415	M125V	probably damaging	Het
Dync2h1	A	G	9: 7,175,289	S107P	possibly damaging	Het
Foxk1	C	A	5: 142,435,188	S189*	probably null	Het
Galm	T	C	17: 80,183,218	I268T	probably benign	Het
Gm5581	A	C	6: 131,168,284		noncoding transcript	Het
Gpr6	G	A	10: 41,071,172	S138L	possibly damaging	Het
Hesx1	C	A	14: 27,000,845	H42Q	possibly damaging	Het
Hsp90b1	T	C	10: 86,695,706	D421G	probably damaging	Het
Kctd19	T	C	8: 105,385,172	T31A	probably damaging	Het
Kif1b	G	A	4: 149,187,640	S1568L	possibly damaging	Het
Krtap19-3	T	C	16: 88,877,975		probably benign	Het
Lin28a	T	A	4: 134,018,154	I43F	probably benign	Het
Lrriq1	G	A	10: 103,214,857	T678I	probably benign	Het
Macf1	A	G	4: 123,368,815		probably benign	Het
Madcam1	A	G	10: 79,665,572	E157G	possibly damaging	Het
Mctp1	A	G	13: 76,824,822	D648G	probably damaging	Het
Megf8	T	C	7: 25,330,715	L425P	probably damaging	Het
Mospd4	A	G	18: 46,465,664		noncoding transcript	Het
Mybpc1	T	G	10: 88,551,452	T466P	probably damaging	Het
Myo10	T	C	15: 25,781,799	Y1127H	probably benign	Het
Myo18b	A	T	5: 112,831,078	L1223Q	probably damaging	Het
Myo9b	T	C	8: 71,333,699	Y670H	probably damaging	Het
Ndufaf4	G	T	4: 24,898,608	D55Y	probably damaging	Het
Neurod2	G	T	11: 98,327,588	A250E	possibly damaging	Het
Nipsnap1	C	A	11: 4,888,932	N119K	probably benign	Het
Npffr2	A	T	5: 89,568,065	I84F	probably damaging	Het
Olfr330	T	C	11: 58,529,611	D125G	probably damaging	Het
Olfr479	T	A	7: 108,055,904	N307K	probably benign	Het
Olfr748	A	G	14: 50,710,636	Y102C	probably damaging	Het
Pald1	A	G	10: 61,348,306		probably null	Het
Palld	T	C	8: 61,877,361	S161G	probably benign	Het
Paqr9	T	A	9: 95,561,069	F371I	probably benign	Het
Pear1	A	T	3: 87,758,359	C120*	probably null	Het
Pla2g4e	A	T	2: 120,182,811	F343I	probably damaging	Het
Plxdc2	A	T	2: 16,512,091	Y61F	probably benign	Het
Polh	G	A	17: 46,188,088	Q234*	probably null	Het
Prkce	T	A	17: 86,496,035	M454K	possibly damaging	Het
Proser1	C	A	3: 53,477,945	T416K	probably benign	Het
Prr14l	G	T	5: 32,831,828		probably benign	Het
Rabgap1l	A	T	1: 160,738,957	D90E	probably benign	Het
Rp1l1	T	A	14: 64,028,966	V667D	possibly damaging	Het
Rpp40	A	T	13: 35,898,621	C256*	probably null	Het
Rps6ka5	A	G	12: 100,678,538	L51P	probably damaging	Het
Rtp2	C	T	16: 23,927,707	C78Y	probably damaging	Het
Ryr3	A	G	2: 112,678,370		probably benign	Het
Slc10a6	A	G	5: 103,609,056	Y281H	probably benign	Het
Slc6a21	T	G	7: 45,282,773		probably null	Het
Slc9a3r1	A	T	11: 115,176,444	I174F	probably damaging	Het
Smo	A	G	6: 29,757,314	Y476C	probably damaging	Het
Tacr3	A	T	3: 134,854,860	T187S	probably damaging	Het
Tas1r3	G	A	4: 155,860,470	R765C	probably damaging	Het
Tasp1	T	C	2: 140,048,244	K71E	possibly damaging	Het
Tg	A	G	15: 66,694,894	I1264V	probably benign	Het
Tmem41a	T	C	16: 21,946,161		probably null	Het
Tmem63a	A	G	1: 180,965,540	N459D	probably benign	Het
Ube2k	A	G	5: 65,594,926	T151A	probably damaging	Het
Ubr1	T	C	2: 120,942,553	E402G	probably benign	Het
Ulk4	T	A	9: 121,152,182	I897F	probably benign	Het
Usp30	A	G	5: 114,111,163	E176G	probably damaging	Het
Utp20	A	G	10: 88,814,055	F431S	probably damaging	Het
Vmn1r206	T	C	13: 22,620,612	S142G	probably benign	Het
Wdr17	C	T	8: 54,632,381	V1236M	probably damaging	Het
Zbtb32	T	C	7: 30,591,493	K126E	possibly damaging	Het
Zeb1	A	T	18: 5,767,681	S731C	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
R1421:Emb	UTSW	13	117272088	missense	probably benign	0.00
R1749:Emb	UTSW	13	117249706	missense	possibly damaging	0.62
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

Predicted Primers

PCR Primer
(F):5'- ATGGTTCCCATGCCAATGAAAC -3'
(R):5'- CGCTCTGCAGACTTCAACTC -3'

Sequencing Primer
(F):5'- TGAAACAAGGCTCAAGATTAAGCATC -3'
(R):5'- AATCACTGCTTTTACCCAGCCAG -3'

Posted On

2014-09-17