Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02492:Itga4'

295707

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 #

IGL02492

Quality Score

Status

Chromosome

Chromosomal Location

79085770-79163467 bp(+) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

C to T at 79086001 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099718 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
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

noncoding transcript
Transcript: ENSMUST00000126312

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135919

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141094

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155105

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atm	A	G	9: 53,367,159 (GRCm39)	L2482P	probably damaging	Het
Bcl11b	T	C	12: 107,881,945 (GRCm39)	Y718C	probably damaging	Het
Bltp1	A	G	3: 37,102,262 (GRCm39)	E1320G	probably benign	Het
Ccrl2	A	G	9: 110,884,871 (GRCm39)	I209T	probably benign	Het
Cd200r2	A	G	16: 44,729,903 (GRCm39)	K149R	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Col18a1	A	G	10: 76,907,855 (GRCm39)		probably benign	Het
Cops5	T	A	1: 10,097,377 (GRCm39)	T291S	probably benign	Het
Csmd1	C	A	8: 16,052,597 (GRCm39)	V2176F	probably benign	Het
Ctse	C	A	1: 131,595,972 (GRCm39)	S221R	probably damaging	Het
Cxcl3	A	G	5: 90,934,199 (GRCm39)		probably null	Het
Cyp51	C	T	5: 4,154,304 (GRCm39)	V2I	probably benign	Het
Dennd5a	A	G	7: 109,532,844 (GRCm39)	F285L	probably benign	Het
Dst	T	G	1: 34,191,274 (GRCm39)		probably benign	Het
Frzb	A	T	2: 80,254,935 (GRCm39)		probably benign	Het
Gm5070	A	T	3: 95,318,354 (GRCm39)		noncoding transcript	Het
Gm9637	A	G	14: 19,402,182 (GRCm38)		noncoding transcript	Het
Grip1	A	G	10: 119,765,945 (GRCm39)		probably benign	Het
Ltbp2	A	T	12: 84,856,439 (GRCm39)	I675N	probably damaging	Het
Or4n4b	T	G	14: 50,536,060 (GRCm39)	K235N	probably damaging	Het
Pcdhb20	G	T	18: 37,639,453 (GRCm39)	V660L	probably benign	Het
Prex2	T	G	1: 11,194,069 (GRCm39)	L484R	possibly damaging	Het
Prkg1	A	T	19: 30,701,602 (GRCm39)	V305D	probably damaging	Het
Rab44	A	G	17: 29,365,023 (GRCm39)		probably benign	Het
Smpd4	C	T	16: 17,457,215 (GRCm39)	A391V	probably damaging	Het
Smyd4	T	C	11: 75,294,252 (GRCm39)	L711P	probably benign	Het
Spag16	T	G	1: 69,926,688 (GRCm39)	M261R	probably benign	Het
Steap1	A	G	5: 5,790,561 (GRCm39)	V129A	possibly damaging	Het
Tbcd	A	T	11: 121,387,960 (GRCm39)	I364L	probably benign	Het
Trmt13	C	T	3: 116,376,192 (GRCm39)	D400N	possibly damaging	Het
Vps13a	A	G	19: 16,625,001 (GRCm39)	S2753P	probably damaging	Het
Xirp2	T	G	2: 67,346,511 (GRCm39)	S2917R	probably damaging	Het
Zfp983	G	A	17: 21,876,528 (GRCm39)		probably null	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
IGL01570:Itga4	APN	2	79,152,978 (GRCm39)	critical splice acceptor site	probably null
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
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

2015-04-16