Mutagenetix > Incidental Mutations

Incidental Mutation 'R1749:Emb'

194223

Institutional Source

Beutler Lab

Gene Symbol

Emb

Ensembl Gene

ENSMUSG00000021728

Gene Name

embigin

Synonyms

Gp70

MMRRC Submission

039781-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R1749 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

117208536-117274415 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 117249706 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 133 (I133N)

Ref Sequence

ENSEMBL: ENSMUSP00000022242 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022242
AA Change: I133N

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000022242
Gene: ENSMUSG00000021728
AA Change: I133N

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

1x: 97.4%
3x: 96.9%
10x: 95.4%
20x: 93.0%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak5	A	T	3: 152,472,920	M486K	probably damaging	Het
Arhgef6	T	C	X: 57,338,562	M5V	probably benign	Het
Aspn	A	T	13: 49,551,785	D41V	probably benign	Het
Atp8a2	C	A	14: 59,860,174	E802*	probably null	Het
Barhl2	T	C	5: 106,457,706	S46G	unknown	Het
Cacna1e	A	G	1: 154,444,000	V1318A	probably damaging	Het
Ccdc69	T	C	11: 55,051,153	R176G	probably null	Het
Cdan1	T	C	2: 120,729,799	N321S	probably damaging	Het
Cep85l	T	C	10: 53,278,154	D681G	probably damaging	Het
Cntrob	A	T	11: 69,322,874	V30E	probably damaging	Het
Csmd3	C	T	15: 47,585,660	G3646E	probably damaging	Het
Cx3cl1	A	G	8: 94,780,161		probably null	Het
Dab1	A	T	4: 104,328,298		probably benign	Het
Dennd2c	T	C	3: 103,132,036	S167P	possibly damaging	Het
Dock2	A	G	11: 34,232,767		probably null	Het
Dok3	GCC	GC	13: 55,524,355		probably null	Het
Ebf1	A	T	11: 44,908,008	I287L	possibly damaging	Het
Eci1	G	A	17: 24,426,747		probably null	Het
Fam91a1	A	G	15: 58,426,594	I184V	probably benign	Het
Fbn2	T	C	18: 58,050,276	D1779G	probably benign	Het
Fgfr4	T	A	13: 55,167,792		probably null	Het
Flt1	G	A	5: 147,655,119	T511M	probably benign	Het
Gys1	T	C	7: 45,440,032	L205P	probably damaging	Het
Hepacam2	A	G	6: 3,483,379	V134A	probably damaging	Het
Htr3a	A	G	9: 48,900,933	V291A	probably damaging	Het
Ip6k3	T	A	17: 27,145,079	T332S	probably benign	Het
Klra6	A	T	6: 130,018,952	F148I	probably damaging	Het
Kntc1	T	C	5: 123,789,099	S1206P	probably benign	Het
Mbnl2	T	A	14: 120,389,050	C231S	probably damaging	Het
Mdn1	A	T	4: 32,773,952	D5521V	probably damaging	Het
Mylip	G	A	13: 45,404,470	V52M	possibly damaging	Het
Naip6	A	G	13: 100,308,255	S232P	probably benign	Het
Ndc80	T	C	17: 71,501,555	K504R	probably benign	Het
Nf2	T	C	11: 4,803,694	N220S	possibly damaging	Het
Nfasc	T	A	1: 132,611,632	I393F	probably damaging	Het
Olfr102	T	C	17: 37,314,061	T108A	probably benign	Het
Pabpc1	T	C	15: 36,608,340	Y56C	probably damaging	Het
Pcca	A	G	14: 122,701,130	K498R	probably damaging	Het
Phldb1	A	G	9: 44,715,748	S467P	probably damaging	Het
Ptprn2	T	C	12: 116,580,428	S47P	probably benign	Het
Rtca	A	T	3: 116,497,644	I229N	possibly damaging	Het
Sh3rf2	T	A	18: 42,153,294	S617R	probably damaging	Het
Slc14a2	T	G	18: 78,147,080	T885P	possibly damaging	Het
Sp100	A	C	1: 85,699,636	T417P	possibly damaging	Het
Tat	A	T	8: 109,996,214	N303Y	probably damaging	Het
Tet2	A	G	3: 133,480,131		probably null	Het
Tln2	C	T	9: 67,286,514	A1773T	probably benign	Het
Tnks1bp1	A	G	2: 85,063,067	S1113G	probably benign	Het
Tspear	G	A	10: 77,869,673	E302K	probably benign	Het
Tulp3	A	G	6: 128,337,759	L23P	probably damaging	Het
Vti1b	T	C	12: 79,165,033	E42G	probably damaging	Het
Yeats2	G	T	16: 20,186,268	E333*	probably null	Het
Zfp455	T	G	13: 67,207,009	C114G	probably damaging	Het
Zfp532	G	A	18: 65,623,484	V163M	possibly damaging	Het
Zfp940	A	T	7: 29,845,527	C318*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- CCGCCGGTTTAACTACACGTTTTG -3'
(R):5'- TGCATCTCTGTCGCTGGAAGACAC -3'

Sequencing Primer
(F):5'- GGTTTAACTACACGTTTTGCTATTC -3'
(R):5'- TACCACTGTGCATCATGAGG -3'

Posted On

2014-05-23