Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01570:Itga4'

91130

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Itga4

Ensembl Gene

ENSMUSG00000027009

Gene Name

integrin alpha 4

Synonyms

VLA-4 receptor, alpha 4 subunit

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01570

Quality Score

Status

Chromosome

Chromosomal Location

79085770-79163467 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

G to A at 79152978 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099718 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099972] [ENSMUST00000099972]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000099972

SMART Domains

Protein: ENSMUSP00000099718
Gene: ENSMUSG00000027009

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Int_alpha	48	108	5.14e-7	SMART
Int_alpha	191	241	3.45e1	SMART
Int_alpha	247	300	1.89e-5	SMART
Int_alpha	302	358	2.25e-12	SMART
Int_alpha	364	419	1.45e-15	SMART
Int_alpha	426	483	4.52e-3	SMART
SCOP:d1m1xa2	627	770	1e-35	SMART
Blast:Int_alpha	639	676	9e-16	BLAST
SCOP:d1m1xa3	773	948	7e-42	SMART
transmembrane domain	978	1000	N/A	INTRINSIC
PDB:4HKC\|B	1003	1032	1e-13	PDB

Predicted Effect

probably null
Transcript: ENSMUST00000099972

SMART Domains

Protein: ENSMUSP00000099718
Gene: ENSMUSG00000027009

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Int_alpha	48	108	5.14e-7	SMART
Int_alpha	191	241	3.45e1	SMART
Int_alpha	247	300	1.89e-5	SMART
Int_alpha	302	358	2.25e-12	SMART
Int_alpha	364	419	1.45e-15	SMART
Int_alpha	426	483	4.52e-3	SMART
SCOP:d1m1xa2	627	770	1e-35	SMART
Blast:Int_alpha	639	676	9e-16	BLAST
SCOP:d1m1xa3	773	948	7e-42	SMART
transmembrane domain	978	1000	N/A	INTRINSIC
PDB:4HKC\|B	1003	1032	1e-13	PDB

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 4 subunit. This subunit associates with a beta 1 or beta 7 subunit to form an integrin that may play a role in cell motility and migration. This integrin is a therapeutic target for the treatment of multiple sclerosis, Crohn's disease and inflammatory bowel disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene exhibit embryonic lethality either due to failure of chorioallantoic fusion or cardiac abnormalities, including hemorrhage around the heart and defects in epicardium formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	T	C	16: 20,378,748 (GRCm39)	S54P	probably damaging	Het
Adam5	A	G	8: 25,300,839 (GRCm39)	V230A	probably damaging	Het
Arid4b	T	A	13: 14,361,394 (GRCm39)		probably benign	Het
Cep250	T	G	2: 155,809,583 (GRCm39)		probably benign	Het
Col28a1	T	A	6: 8,014,540 (GRCm39)	D955V	probably damaging	Het
Gm7676	A	G	8: 13,946,311 (GRCm39)		noncoding transcript	Het
Hao1	A	G	2: 134,396,120 (GRCm39)	S45P	probably damaging	Het
Hars2	A	T	18: 36,920,645 (GRCm39)	I163L	probably benign	Het
Iqgap1	T	C	7: 80,372,809 (GRCm39)	Y1510C	possibly damaging	Het
Kif18b	G	A	11: 102,803,217 (GRCm39)	H498Y	probably benign	Het
Kin	C	T	2: 10,096,763 (GRCm39)	T204M	probably benign	Het
Lmo7	T	C	14: 102,139,807 (GRCm39)		probably null	Het
Ltbp2	G	A	12: 84,840,807 (GRCm39)	T1009I	probably benign	Het
Mad1l1	A	G	5: 140,103,032 (GRCm39)	S489P	probably benign	Het
Memo1	A	G	17: 74,524,103 (GRCm39)		probably benign	Het
Myocd	T	A	11: 65,091,633 (GRCm39)	H103L	probably benign	Het
Nhlrc2	T	A	19: 56,563,219 (GRCm39)	F273I	possibly damaging	Het
Or10g7	T	C	9: 39,905,625 (GRCm39)	I173T	probably damaging	Het
Or1e26	C	A	11: 73,480,209 (GRCm39)	M118I	probably benign	Het
Or5p4	A	T	7: 107,680,480 (GRCm39)	T160S	probably benign	Het
Pappa2	A	C	1: 158,642,110 (GRCm39)	Y1315*	probably null	Het
Pdzk1ip1	C	T	4: 114,946,214 (GRCm39)	P25S	possibly damaging	Het
Ppp2r5d	A	T	17: 46,998,843 (GRCm39)	V73D	possibly damaging	Het
Psmg2	G	A	18: 67,786,293 (GRCm39)	V218I	probably benign	Het
Qars1	C	T	9: 108,388,738 (GRCm39)	T266M	probably damaging	Het
Slc26a2	A	C	18: 61,331,332 (GRCm39)	C700G	possibly damaging	Het
Zfp638	C	A	6: 83,924,829 (GRCm39)	A724E	probably damaging	Het

Other mutations in Itga4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Itga4	APN	2	79,122,394 (GRCm39)	missense	probably benign	0.01
IGL01317:Itga4	APN	2	79,153,005 (GRCm39)	nonsense	probably null
IGL01545:Itga4	APN	2	79,146,314 (GRCm39)	splice site	probably benign
IGL01575:Itga4	APN	2	79,118,599 (GRCm39)	missense	probably damaging	1.00
IGL01837:Itga4	APN	2	79,145,349 (GRCm39)	missense	probably damaging	1.00
IGL01974:Itga4	APN	2	79,103,471 (GRCm39)	splice site	probably benign
IGL02087:Itga4	APN	2	79,122,413 (GRCm39)	missense	probably damaging	0.99
IGL02245:Itga4	APN	2	79,150,903 (GRCm39)	missense	probably benign	0.01
IGL02492:Itga4	APN	2	79,086,001 (GRCm39)	utr 5 prime	probably benign
IGL02809:Itga4	APN	2	79,110,921 (GRCm39)	missense	probably damaging	1.00
IGL02998:Itga4	APN	2	79,108,165 (GRCm39)	missense	possibly damaging	0.88
IGL03008:Itga4	APN	2	79,155,982 (GRCm39)	missense	probably benign
IGL03282:Itga4	APN	2	79,155,938 (GRCm39)	missense	probably damaging	0.98
IGL03285:Itga4	APN	2	79,109,510 (GRCm39)	missense	possibly damaging	0.48
IGL03286:Itga4	APN	2	79,119,706 (GRCm39)	missense	probably damaging	1.00
R0001:Itga4	UTSW	2	79,156,931 (GRCm39)	missense	probably damaging	0.99
R0045:Itga4	UTSW	2	79,131,375 (GRCm39)	missense	probably damaging	1.00
R0276:Itga4	UTSW	2	79,151,837 (GRCm39)	missense	probably damaging	0.99
R0554:Itga4	UTSW	2	79,109,461 (GRCm39)	missense	probably damaging	1.00
R0556:Itga4	UTSW	2	79,155,983 (GRCm39)	missense	probably benign
R0785:Itga4	UTSW	2	79,119,649 (GRCm39)	missense	possibly damaging	0.89
R0787:Itga4	UTSW	2	79,109,497 (GRCm39)	missense	probably benign	0.01
R1013:Itga4	UTSW	2	79,150,847 (GRCm39)	missense	probably benign	0.00
R1237:Itga4	UTSW	2	79,109,490 (GRCm39)	missense	probably null	0.08
R1295:Itga4	UTSW	2	79,153,033 (GRCm39)	missense	possibly damaging	0.82
R1471:Itga4	UTSW	2	79,117,376 (GRCm39)	missense	probably benign	0.26
R1559:Itga4	UTSW	2	79,146,032 (GRCm39)	missense	probably benign	0.04
R1769:Itga4	UTSW	2	79,146,050 (GRCm39)	critical splice donor site	probably null
R1931:Itga4	UTSW	2	79,144,188 (GRCm39)	critical splice donor site	probably null
R2012:Itga4	UTSW	2	79,108,138 (GRCm39)	missense	probably damaging	1.00
R2241:Itga4	UTSW	2	79,131,357 (GRCm39)	missense	probably damaging	1.00
R3793:Itga4	UTSW	2	79,109,472 (GRCm39)	missense	probably benign	0.01
R4133:Itga4	UTSW	2	79,152,996 (GRCm39)	missense	probably damaging	1.00
R4204:Itga4	UTSW	2	79,109,505 (GRCm39)	missense	probably damaging	0.97
R4296:Itga4	UTSW	2	79,103,143 (GRCm39)	missense	probably damaging	1.00
R4777:Itga4	UTSW	2	79,144,054 (GRCm39)	missense	possibly damaging	0.87
R4906:Itga4	UTSW	2	79,118,592 (GRCm39)	missense	probably damaging	1.00
R5048:Itga4	UTSW	2	79,103,378 (GRCm39)	missense	probably benign	0.04
R5087:Itga4	UTSW	2	79,145,973 (GRCm39)	missense	possibly damaging	0.95
R5212:Itga4	UTSW	2	79,110,939 (GRCm39)	missense	probably damaging	1.00
R5213:Itga4	UTSW	2	79,150,920 (GRCm39)	missense	probably benign	0.29
R5421:Itga4	UTSW	2	79,146,385 (GRCm39)	nonsense	probably null
R5549:Itga4	UTSW	2	79,086,611 (GRCm39)	missense	probably damaging	0.98
R5907:Itga4	UTSW	2	79,153,000 (GRCm39)	missense	probably benign
R5917:Itga4	UTSW	2	79,117,442 (GRCm39)	missense	probably damaging	1.00
R6309:Itga4	UTSW	2	79,109,429 (GRCm39)	missense	probably damaging	1.00
R6764:Itga4	UTSW	2	79,155,958 (GRCm39)	missense	probably benign	0.02
R6787:Itga4	UTSW	2	79,119,609 (GRCm39)	missense	probably damaging	0.97
R6790:Itga4	UTSW	2	79,155,958 (GRCm39)	missense	probably benign	0.02
R7051:Itga4	UTSW	2	79,148,470 (GRCm39)	missense	possibly damaging	0.91
R7311:Itga4	UTSW	2	79,086,526 (GRCm39)	missense	probably benign
R7520:Itga4	UTSW	2	79,131,333 (GRCm39)	missense	probably damaging	1.00
R7573:Itga4	UTSW	2	79,103,337 (GRCm39)	missense	probably benign
R7636:Itga4	UTSW	2	79,144,176 (GRCm39)	missense	probably benign	0.01
R7889:Itga4	UTSW	2	79,146,389 (GRCm39)	missense	probably benign	0.05
R8123:Itga4	UTSW	2	79,146,027 (GRCm39)	missense	probably benign
R8284:Itga4	UTSW	2	79,151,783 (GRCm39)	missense	probably benign	0.00
R8445:Itga4	UTSW	2	79,112,125 (GRCm39)	missense	probably benign
R8553:Itga4	UTSW	2	79,131,405 (GRCm39)	missense	probably damaging	0.97
R8696:Itga4	UTSW	2	79,112,125 (GRCm39)	missense	probably benign
R8900:Itga4	UTSW	2	79,145,332 (GRCm39)	missense	probably damaging	1.00
R8922:Itga4	UTSW	2	79,085,938 (GRCm39)	utr 5 prime	probably benign
R9359:Itga4	UTSW	2	79,156,004 (GRCm39)	missense	possibly damaging	0.48
R9403:Itga4	UTSW	2	79,156,004 (GRCm39)	missense	possibly damaging	0.48

Posted On

2013-12-09