Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01974:Itga4'

181696

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 #

IGL01974

Quality Score

Status

Chromosome

Chromosomal Location

79085770-79163467 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 79103471 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

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
3425401B19Rik	T	C	14: 32,381,762 (GRCm39)	D1401G	possibly damaging	Het
Adamts2	G	A	11: 50,667,001 (GRCm39)	G433S	probably damaging	Het
Cacna2d2	A	C	9: 107,394,621 (GRCm39)	S598R	probably benign	Het
Cdkl3	A	G	11: 51,902,064 (GRCm39)	Q91R	probably damaging	Het
Celf2	T	C	2: 6,608,842 (GRCm39)	Y313C	probably damaging	Het
Clint1	C	A	11: 45,799,862 (GRCm39)	N558K	probably benign	Het
Dcbld1	A	G	10: 52,180,777 (GRCm39)	H147R	probably benign	Het
Ednrb	A	C	14: 104,058,254 (GRCm39)	Y350D	probably damaging	Het
Elp2	C	T	18: 24,759,260 (GRCm39)	P539L	probably damaging	Het
Fam217b	G	A	2: 178,063,020 (GRCm39)	R328Q	probably damaging	Het
Gm9991	G	T	1: 90,603,197 (GRCm39)		noncoding transcript	Het
Herc4	T	G	10: 63,135,020 (GRCm39)		probably null	Het
Hus1	T	C	11: 8,950,088 (GRCm39)	N211S	possibly damaging	Het
Immt	A	G	6: 71,849,842 (GRCm39)	D454G	probably damaging	Het
Kank1	A	T	19: 25,387,596 (GRCm39)	N423I	possibly damaging	Het
Kynu	T	A	2: 43,571,352 (GRCm39)		probably benign	Het
Mycbp2	A	C	14: 103,380,647 (GRCm39)	S3670A	possibly damaging	Het
Ndufv3	T	C	17: 31,740,583 (GRCm39)	V30A	probably benign	Het
Or8k17	G	T	2: 86,066,304 (GRCm39)	L292I	probably benign	Het
Per2	C	T	1: 91,351,440 (GRCm39)	R1022Q	probably benign	Het
Rad23a	T	C	8: 85,565,568 (GRCm39)	E30G	probably damaging	Het
Ropn1l	T	A	15: 31,449,255 (GRCm39)	Y91F	probably benign	Het
Sertad4	C	A	1: 192,529,274 (GRCm39)	E181*	probably null	Het
Styxl2	A	T	1: 165,928,105 (GRCm39)	C502*	probably null	Het
Tnfrsf1b	G	A	4: 144,942,421 (GRCm39)	P454L	probably damaging	Het
Ttbk2	G	A	2: 120,616,564 (GRCm39)	R110W	probably damaging	Het
Usp17le	G	T	7: 104,417,642 (GRCm39)	S500Y	probably benign	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
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

2014-05-07