Mutagenetix > Incidental Mutation

Incidental Mutation 'R0098:Emb'

64116

Institutional Source

Beutler Lab

Gene Symbol

Emb

Ensembl Gene

ENSMUSG00000021728

Gene Name

embigin

Synonyms

Gp70

MMRRC Submission

038384-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R0098 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

117357109-117410951 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 117404034 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 262 (V262A)

Ref Sequence

ENSEMBL: ENSMUSP00000022242 (fasta)

Gene Model

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

AlphaFold

P21995

Predicted Effect

probably damaging
Transcript: ENSMUST00000022242
AA Change: V262A

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

SMART Domains

Protein: ENSMUSP00000022242
Gene: ENSMUSG00000021728
AA Change: V262A

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

0.1537

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.2%

Validation Efficiency

100% (54/54)

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
Acad9	T	C	3: 36,127,689 (GRCm39)	I97T	probably damaging	Het
Acp3	C	T	9: 104,197,144 (GRCm39)		probably null	Het
Adam32	T	A	8: 25,404,405 (GRCm39)	Y200F	possibly damaging	Het
Alpk2	A	G	18: 65,482,982 (GRCm39)	L342S	probably damaging	Het
Arfgef3	A	G	10: 18,465,390 (GRCm39)	V2151A	probably damaging	Het
Atm	T	C	9: 53,429,869 (GRCm39)	D389G	probably benign	Het
Atp10b	A	T	11: 43,080,431 (GRCm39)	S236C	probably benign	Het
B3gat1	C	T	9: 26,668,237 (GRCm39)	R276C	probably damaging	Het
Cndp1	T	A	18: 84,646,949 (GRCm39)	E246D	probably damaging	Het
Crebbp	A	G	16: 3,909,792 (GRCm39)	L1078P	probably damaging	Het
Cyp20a1	G	T	1: 60,426,413 (GRCm39)	E452*	probably null	Het
Ephb1	C	T	9: 101,918,339 (GRCm39)	R390H	probably damaging	Het
Faf1	T	C	4: 109,792,696 (GRCm39)	L556S	probably damaging	Het
Fam237b	T	A	5: 5,625,355 (GRCm39)	L17Q	possibly damaging	Het
Fbf1	A	T	11: 116,038,945 (GRCm39)		probably null	Het
Gid8	T	A	2: 180,356,528 (GRCm39)	I55N	possibly damaging	Het
Hexa	T	C	9: 59,465,383 (GRCm39)	Y213H	probably damaging	Het
Kalrn	A	T	16: 33,795,989 (GRCm39)	I1262K	possibly damaging	Het
Lrp1	C	T	10: 127,388,607 (GRCm39)	V3281I	probably benign	Het
Lrp2	T	C	2: 69,305,756 (GRCm39)	D2935G	probably damaging	Het
Lypd6	T	A	2: 50,080,792 (GRCm39)	V160E	probably benign	Het
Muc19	C	T	15: 91,777,101 (GRCm39)		noncoding transcript	Het
Mybpc1	T	C	10: 88,365,426 (GRCm39)	D899G	probably benign	Het
Myo18a	A	G	11: 77,736,591 (GRCm39)	E1564G	probably damaging	Het
Nrxn3	A	G	12: 89,226,971 (GRCm39)	D202G	probably damaging	Het
Palld	C	A	8: 61,978,120 (GRCm39)	G890V	probably damaging	Het
Pcx	C	A	19: 4,651,775 (GRCm39)		probably benign	Het
Plcg1	T	C	2: 160,573,920 (GRCm39)	W62R	probably damaging	Het
Ppa2	C	T	3: 133,076,234 (GRCm39)		probably benign	Het
Ppp1r18	A	G	17: 36,178,888 (GRCm39)	I254M	probably benign	Het
Prune2	A	G	19: 17,101,267 (GRCm39)	E2257G	possibly damaging	Het
Rd3	A	G	1: 191,717,261 (GRCm39)	M244V	probably benign	Het
Rfx5	T	A	3: 94,865,679 (GRCm39)	V326E	probably damaging	Het
Rgs3	G	C	4: 62,544,143 (GRCm39)	R305P	probably damaging	Het
Rpp40	A	G	13: 36,082,970 (GRCm39)	Y173H	probably benign	Het
Ryr3	T	C	2: 112,731,376 (GRCm39)	N645D	probably damaging	Het
Sema3e	T	C	5: 14,302,446 (GRCm39)	V657A	possibly damaging	Het
Serpina3n	T	A	12: 104,379,777 (GRCm39)	V390E	probably damaging	Het
Shank1	A	G	7: 43,962,709 (GRCm39)	Y141C	unknown	Het
Stat2	T	A	10: 128,119,131 (GRCm39)	H428Q	probably damaging	Het
Stat5a	A	T	11: 100,766,452 (GRCm39)	Q378L	probably damaging	Het
Tfrc	G	T	16: 32,442,244 (GRCm39)	V490F	probably damaging	Het
Tnnt1	T	C	7: 4,512,044 (GRCm39)	N155S	probably damaging	Het
Topaz1	T	C	9: 122,619,188 (GRCm39)	Y1262H	possibly damaging	Het
Ubxn8	T	C	8: 34,125,393 (GRCm39)		probably benign	Het
Unk	A	G	11: 115,940,995 (GRCm39)	Y252C	probably damaging	Het
Vmn2r66	A	C	7: 84,654,965 (GRCm39)	M448R	probably damaging	Het
Zfp386	T	A	12: 116,022,834 (GRCm39)	L184*	probably null	Het
Zfp985	T	C	4: 147,661,566 (GRCm39)	S4P	probably damaging	Het

Other mutations in Emb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01406:Emb	APN	13	117,405,466 (GRCm39)	missense	probably damaging	1.00
IGL01613:Emb	APN	13	117,408,614 (GRCm39)	missense	probably damaging	1.00
IGL01780:Emb	APN	13	117,386,007 (GRCm39)	unclassified	probably benign
IGL02187:Emb	APN	13	117,405,507 (GRCm39)	splice site	probably benign
IGL02350:Emb	APN	13	117,386,007 (GRCm39)	unclassified	probably benign
IGL02357:Emb	APN	13	117,386,007 (GRCm39)	unclassified	probably benign
IGL02728:Emb	APN	13	117,369,301 (GRCm39)	missense	probably benign	0.39
IGL02948:Emb	APN	13	117,409,602 (GRCm39)	utr 3 prime	probably benign
R0098:Emb	UTSW	13	117,404,034 (GRCm39)	missense	probably damaging	1.00
R0540:Emb	UTSW	13	117,369,286 (GRCm39)	missense	possibly damaging	0.81
R0607:Emb	UTSW	13	117,369,286 (GRCm39)	missense	possibly damaging	0.81
R1421:Emb	UTSW	13	117,408,624 (GRCm39)	missense	probably benign	0.00
R1749:Emb	UTSW	13	117,386,242 (GRCm39)	missense	possibly damaging	0.62
R2129:Emb	UTSW	13	117,404,082 (GRCm39)	missense	probably damaging	1.00
R3896:Emb	UTSW	13	117,409,598 (GRCm39)	makesense	probably null
R4371:Emb	UTSW	13	117,405,466 (GRCm39)	missense	probably damaging	1.00
R4990:Emb	UTSW	13	117,401,046 (GRCm39)	missense	probably damaging	1.00
R5398:Emb	UTSW	13	117,404,088 (GRCm39)	missense	probably damaging	0.97
R5949:Emb	UTSW	13	117,403,928 (GRCm39)	missense	probably benign	0.13
R6330:Emb	UTSW	13	117,385,666 (GRCm39)	splice site	probably null
R7221:Emb	UTSW	13	117,404,013 (GRCm39)	missense	probably damaging	1.00
R7479:Emb	UTSW	13	117,385,962 (GRCm39)	missense	possibly damaging	0.51
R7548:Emb	UTSW	13	117,408,590 (GRCm39)	missense	possibly damaging	0.94
R7557:Emb	UTSW	13	117,386,252 (GRCm39)	missense	probably benign	0.21
R7605:Emb	UTSW	13	117,401,046 (GRCm39)	missense	probably damaging	1.00
R9314:Emb	UTSW	13	117,408,604 (GRCm39)	missense	probably damaging	1.00
R9364:Emb	UTSW	13	117,357,096 (GRCm39)	intron	probably benign
R9366:Emb	UTSW	13	117,357,096 (GRCm39)	intron	probably benign
R9368:Emb	UTSW	13	117,357,096 (GRCm39)	intron	probably benign
R9369:Emb	UTSW	13	117,357,096 (GRCm39)	intron	probably benign
R9381:Emb	UTSW	13	117,357,096 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- TAGGTTCCCATTGACGCTCACTCG -3'
(R):5'- AGATCACAGAGGCTTGCAGCATAC -3'

Sequencing Primer
(F):5'- TTGACGCTCACTCGAATGAAAAG -3'
(R):5'- GCTTGCAGCATACGCTCTG -3'

Posted On

2013-08-06