Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03286:Itga4'

415714

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03286

Quality Score

Status

Chromosome

Chromosomal Location

79255426-79333123 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79289362 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 504 (Y504F)

Ref Sequence

ENSEMBL: ENSMUSP00000099718 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000099972
AA Change: Y504F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099718
Gene: ENSMUSG00000027009
AA Change: Y504F

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

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	G	A	1: 58,049,384	G110S	probably benign	Het
Arhgap32	T	C	9: 32,259,520	S1548P	probably benign	Het
Cacna1s	A	G	1: 136,077,659	D147G	probably benign	Het
Calcoco2	A	G	11: 96,103,272	V116A	possibly damaging	Het
Chd5	A	T	4: 152,385,495	M1842L	probably benign	Het
Comt	T	C	16: 18,411,740	D73G	probably damaging	Het
Ctnna1	A	G	18: 35,175,153	I175M	probably benign	Het
Dnah6	A	T	6: 73,083,085	Y2839N	probably damaging	Het
Dph7	T	A	2: 24,966,616	H193Q	probably damaging	Het
Eif2b5	A	G	16: 20,502,262	D258G	probably damaging	Het
Eml5	T	C	12: 98,860,503	D630G	probably damaging	Het
Ext2	C	T	2: 93,707,272	V590M	probably damaging	Het
Fchsd2	T	C	7: 101,259,775		probably null	Het
Gm13272	A	G	4: 88,780,349	Q167R	probably benign	Het
Gm21834	A	G	17: 57,741,927	V98A	possibly damaging	Het
Grid1	T	A	14: 35,520,685		probably benign	Het
H2-DMa	T	A	17: 34,137,109		probably null	Het
Ighv5-17	T	G	12: 113,859,177	E108A	possibly damaging	Het
Invs	A	G	4: 48,382,261	T144A	probably benign	Het
Ipo9	A	G	1: 135,407,078		probably benign	Het
Krt5	A	G	15: 101,707,548	F544S	unknown	Het
Larp4	A	G	15: 99,986,086	Y67C	probably damaging	Het
Msh2	T	C	17: 87,682,667	M261T	possibly damaging	Het
Nav1	A	T	1: 135,454,536	C1367S	probably benign	Het
Nox4	T	A	7: 87,370,141		probably benign	Het
Noxa1	A	G	2: 25,085,720		probably null	Het
Olfr1450	A	C	19: 12,954,168	Y193S	probably benign	Het
Olfr414	A	C	1: 174,431,177	I250L	probably benign	Het
Pde4d	T	A	13: 109,954,506		probably benign	Het
Pdlim2	C	T	14: 70,174,476	G36S	possibly damaging	Het
Plekhm2	A	G	4: 141,634,347	S262P	possibly damaging	Het
Pnpla6	C	A	8: 3,531,473	T582K	probably damaging	Het
Rap1b	A	T	10: 117,818,575	L120*	probably null	Het
Rft1	C	T	14: 30,661,366	T121I	probably benign	Het
Scn1a	A	G	2: 66,277,576	I1613T	probably damaging	Het
Slc47a2	T	G	11: 61,342,467	E79A	possibly damaging	Het
Slc9a4	A	G	1: 40,580,768	I85V	probably null	Het
Slfn8	A	T	11: 83,013,468	F365L	probably damaging	Het
Smcr8	T	A	11: 60,778,027		probably benign	Het
Sntb1	T	C	15: 55,792,046	D258G	possibly damaging	Het
Sorbs1	A	G	19: 40,344,414	I520T	probably damaging	Het
Sptbn2	T	C	19: 4,747,832	S1896P	probably damaging	Het
Sptlc3	G	A	2: 139,589,659	G367D	probably damaging	Het
Stab1	C	T	14: 31,159,326		probably benign	Het
Tars2	T	C	3: 95,754,755		probably benign	Het
Tchhl1	C	T	3: 93,471,123	A378V	probably benign	Het
Tet3	A	T	6: 83,375,778	F1012Y	probably damaging	Het
Tuba8	A	G	6: 121,222,954	D199G	possibly damaging	Het
Vmn2r110	T	A	17: 20,584,206	T151S	possibly damaging	Het
Xirp2	T	C	2: 67,516,310	I2965T	probably damaging	Het
Zfp688	T	A	7: 127,419,531	M141L	probably benign	Het

Other mutations in Itga4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Itga4	APN	2	79292050	missense	probably benign	0.01
IGL01317:Itga4	APN	2	79322661	nonsense	probably null
IGL01545:Itga4	APN	2	79315970	splice site	probably benign
IGL01570:Itga4	APN	2	79322634	critical splice acceptor site	probably null
IGL01575:Itga4	APN	2	79288255	missense	probably damaging	1.00
IGL01837:Itga4	APN	2	79315005	missense	probably damaging	1.00
IGL01974:Itga4	APN	2	79273127	splice site	probably benign
IGL02087:Itga4	APN	2	79292069	missense	probably damaging	0.99
IGL02245:Itga4	APN	2	79320559	missense	probably benign	0.01
IGL02492:Itga4	APN	2	79255657	utr 5 prime	probably benign
IGL02809:Itga4	APN	2	79280577	missense	probably damaging	1.00
IGL02998:Itga4	APN	2	79277821	missense	possibly damaging	0.88
IGL03008:Itga4	APN	2	79325638	missense	probably benign
IGL03282:Itga4	APN	2	79325594	missense	probably damaging	0.98
IGL03285:Itga4	APN	2	79279166	missense	possibly damaging	0.48
R0001:Itga4	UTSW	2	79326587	missense	probably damaging	0.99
R0045:Itga4	UTSW	2	79301031	missense	probably damaging	1.00
R0276:Itga4	UTSW	2	79321493	missense	probably damaging	0.99
R0554:Itga4	UTSW	2	79279117	missense	probably damaging	1.00
R0556:Itga4	UTSW	2	79325639	missense	probably benign
R0785:Itga4	UTSW	2	79289305	missense	possibly damaging	0.89
R0787:Itga4	UTSW	2	79279153	missense	probably benign	0.01
R1013:Itga4	UTSW	2	79320503	missense	probably benign	0.00
R1237:Itga4	UTSW	2	79279146	missense	probably null	0.08
R1295:Itga4	UTSW	2	79322689	missense	possibly damaging	0.82
R1471:Itga4	UTSW	2	79287032	missense	probably benign	0.26
R1559:Itga4	UTSW	2	79315688	missense	probably benign	0.04
R1769:Itga4	UTSW	2	79315706	critical splice donor site	probably null
R1931:Itga4	UTSW	2	79313844	critical splice donor site	probably null
R2012:Itga4	UTSW	2	79277794	missense	probably damaging	1.00
R2241:Itga4	UTSW	2	79301013	missense	probably damaging	1.00
R3793:Itga4	UTSW	2	79279128	missense	probably benign	0.01
R4133:Itga4	UTSW	2	79322652	missense	probably damaging	1.00
R4204:Itga4	UTSW	2	79279161	missense	probably damaging	0.97
R4296:Itga4	UTSW	2	79272799	missense	probably damaging	1.00
R4777:Itga4	UTSW	2	79313710	missense	possibly damaging	0.87
R4906:Itga4	UTSW	2	79288248	missense	probably damaging	1.00
R5048:Itga4	UTSW	2	79273034	missense	probably benign	0.04
R5087:Itga4	UTSW	2	79315629	missense	possibly damaging	0.95
R5212:Itga4	UTSW	2	79280595	missense	probably damaging	1.00
R5213:Itga4	UTSW	2	79320576	missense	probably benign	0.29
R5421:Itga4	UTSW	2	79316041	nonsense	probably null
R5549:Itga4	UTSW	2	79256267	missense	probably damaging	0.98
R5907:Itga4	UTSW	2	79322656	missense	probably benign
R5917:Itga4	UTSW	2	79287098	missense	probably damaging	1.00
R6309:Itga4	UTSW	2	79279085	missense	probably damaging	1.00
R6764:Itga4	UTSW	2	79325614	missense	probably benign	0.02
R6787:Itga4	UTSW	2	79289265	missense	probably damaging	0.97
R6790:Itga4	UTSW	2	79325614	missense	probably benign	0.02
R7051:Itga4	UTSW	2	79318126	missense	possibly damaging	0.91
R7311:Itga4	UTSW	2	79256182	missense	probably benign
R7520:Itga4	UTSW	2	79300989	missense	probably damaging	1.00
R7573:Itga4	UTSW	2	79272993	missense	probably benign
R7636:Itga4	UTSW	2	79313832	missense	probably benign	0.01
R7889:Itga4	UTSW	2	79316045	missense	probably benign	0.05
R7972:Itga4	UTSW	2	79316045	missense	probably benign	0.05

Posted On

2016-08-02