Mutagenetix > Incidental Mutation

Incidental Mutation 'R5907:Itga4'

460681

Institutional Source

Beutler Lab

Gene Symbol

Itga4

Ensembl Gene

ENSMUSG00000027009

Gene Name

integrin alpha 4

Synonyms

VLA-4 receptor, alpha 4 subunit

MMRRC Submission

044104-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5907 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79085770-79163467 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 79153000 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 896 (H896Y)

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
AA Change: H896Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099718
Gene: ENSMUSG00000027009
AA Change: H896Y

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

Meta Mutation Damage Score

0.0746

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.7%

Validation Efficiency

93% (92/99)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	T	9: 46,218,120 (GRCm39)	I206N	probably damaging	Het
Aadac	T	A	3: 59,947,248 (GRCm39)	D315E	probably damaging	Het
Abcc8	A	G	7: 45,773,330 (GRCm39)	F800L	probably benign	Het
Adamts16	C	A	13: 70,877,029 (GRCm39)	C1204F	probably damaging	Het
Adcy7	A	G	8: 89,038,856 (GRCm39)	T291A	possibly damaging	Het
AI182371	G	T	2: 34,976,134 (GRCm39)	Q255K	possibly damaging	Het
Aig1	A	T	10: 13,677,528 (GRCm39)		probably benign	Het
Ak5	T	C	3: 152,321,589 (GRCm39)	D266G	probably damaging	Het
Ank1	A	T	8: 23,630,220 (GRCm39)	E93D	probably damaging	Het
Bop1	T	C	15: 76,340,117 (GRCm39)	D153G	probably damaging	Het
Bub1	G	T	2: 127,661,142 (GRCm39)	N316K	probably benign	Het
Capn1	T	C	19: 6,047,827 (GRCm39)	N412S	probably benign	Het
Cdca4	A	G	12: 112,785,339 (GRCm39)	S130P	probably benign	Het
Cdh23	A	T	10: 60,264,158 (GRCm39)	D663E	probably damaging	Het
Clca3a1	T	C	3: 144,455,403 (GRCm39)		probably benign	Het
Csmd2	C	T	4: 128,091,178 (GRCm39)	P239L	probably damaging	Het
Dlg2	A	T	7: 91,646,579 (GRCm39)		probably benign	Het
Dnpep	C	T	1: 75,288,635 (GRCm39)		probably null	Het
Dop1b	A	T	16: 93,598,469 (GRCm39)	H1878L	probably damaging	Het
Dscam	C	T	16: 96,622,120 (GRCm39)	D444N	probably damaging	Het
Emc9	C	T	14: 55,819,569 (GRCm39)		probably null	Het
Ero1b	T	A	13: 12,615,207 (GRCm39)	I346N	probably damaging	Het
Etv3	A	G	3: 87,442,850 (GRCm39)	T145A	probably benign	Het
Fam170a	T	A	18: 50,415,321 (GRCm39)		probably null	Het
Fap	A	T	2: 62,374,700 (GRCm39)	I261N	probably damaging	Het
Fbn2	T	C	18: 58,178,409 (GRCm39)	N1943S	probably damaging	Het
Glb1l3	A	T	9: 26,737,679 (GRCm39)	V466E	probably damaging	Het
Gm10521	A	T	1: 171,724,070 (GRCm39)	H127L	unknown	Het
Gm8186	G	T	17: 26,318,130 (GRCm39)	N22K	probably damaging	Het
Gpr132	A	C	12: 112,815,717 (GRCm39)	L370V	probably benign	Het
Hectd1	A	T	12: 51,845,537 (GRCm39)	H449Q	probably damaging	Het
Hook3	A	G	8: 26,534,306 (GRCm39)		probably benign	Het
Ift140	A	G	17: 25,311,345 (GRCm39)	D1180G	probably benign	Het
Isoc2b	A	T	7: 4,852,577 (GRCm39)		probably null	Het
Itga7	T	C	10: 128,778,850 (GRCm39)	Y326H	probably damaging	Het
Itpr3	A	T	17: 27,336,867 (GRCm39)	E2397V	probably damaging	Het
Jtb	T	G	3: 90,142,884 (GRCm39)		probably null	Het
Klk15	A	G	7: 43,588,183 (GRCm39)	T164A	probably benign	Het
Kmt2e	C	A	5: 23,669,704 (GRCm39)	H64N	probably damaging	Het
Lamtor3	T	A	3: 137,633,054 (GRCm39)		probably benign	Het
Laptm4b	A	G	15: 34,258,830 (GRCm39)	I35V	possibly damaging	Het
Lrrc1	A	C	9: 77,341,379 (GRCm39)	L393R	probably damaging	Het
Ltn1	A	G	16: 87,178,391 (GRCm39)	S1613P	possibly damaging	Het
Mtmr4	T	A	11: 87,502,876 (GRCm39)	W920R	probably damaging	Het
Nbeal1	T	C	1: 60,267,950 (GRCm39)		probably benign	Het
Nup133	A	G	8: 124,643,038 (GRCm39)	Y761H	possibly damaging	Het
Nwd2	T	A	5: 63,963,326 (GRCm39)	V970D	probably damaging	Het
Or4c126	A	G	2: 89,824,301 (GRCm39)	H188R	probably benign	Het
Or6n1	T	C	1: 173,916,785 (GRCm39)	Y60H	probably benign	Het
Or8k24	A	T	2: 86,216,218 (GRCm39)	S181R	probably damaging	Het
Osbp	C	T	19: 11,951,240 (GRCm39)	L262F	probably damaging	Het
Phf8-ps	G	T	17: 33,285,124 (GRCm39)	D559E	probably benign	Het
Phldb2	G	T	16: 45,645,551 (GRCm39)	D343E	probably damaging	Het
Phrf1	T	A	7: 140,840,453 (GRCm39)	M1216K	possibly damaging	Het
Phyh	A	T	2: 4,935,462 (GRCm39)		probably null	Het
Plekhf1	A	T	7: 37,921,594 (GRCm39)		probably null	Het
Rars1	T	C	11: 35,719,475 (GRCm39)	N116D	probably damaging	Het
Rnf44	T	A	13: 54,830,621 (GRCm39)	Q181L	possibly damaging	Het
Rpe65	T	C	3: 159,321,319 (GRCm39)		probably null	Het
Scaf1	A	G	7: 44,663,016 (GRCm39)		probably benign	Het
Serpinb11	A	T	1: 107,299,919 (GRCm39)	R88S	probably benign	Het
Slc7a7	T	C	14: 54,616,560 (GRCm39)	N174S	probably damaging	Het
Slc9a5	T	C	8: 106,083,807 (GRCm39)		probably null	Het
Slfn1	C	A	11: 83,012,002 (GRCm39)	N39K	possibly damaging	Het
Snx20	G	A	8: 89,353,923 (GRCm39)	A269V	possibly damaging	Het
Snx6	A	G	12: 54,801,104 (GRCm39)	Y298H	probably damaging	Het
Stk32c	C	T	7: 138,700,590 (GRCm39)	R213Q	probably benign	Het
Tgfbr1	A	T	4: 47,396,555 (GRCm39)	I190F	probably damaging	Het
Ube2d2b	T	A	5: 107,978,498 (GRCm39)	F50I	probably damaging	Het
Ubl5	G	A	9: 20,557,830 (GRCm39)		probably benign	Het
Ubqln5	T	G	7: 103,777,781 (GRCm39)	T348P	possibly damaging	Het
Usp46	T	C	5: 74,197,746 (GRCm39)	D22G	probably benign	Het
Vars1	A	G	17: 35,231,352 (GRCm39)	N655S	probably damaging	Het
Vmn2r103	A	C	17: 20,032,715 (GRCm39)	I830L	possibly damaging	Het
Vmn2r26	T	A	6: 124,016,830 (GRCm39)	N431K	probably benign	Het
Vmn2r4	G	T	3: 64,298,487 (GRCm39)	P547Q	probably damaging	Het
Yy1	T	A	12: 108,772,354 (GRCm39)		probably benign	Het
Zbtb2	A	T	10: 4,318,592 (GRCm39)	L478Q	possibly damaging	Het
Zfp12	T	C	5: 143,225,743 (GRCm39)	F17S	probably damaging	Het
Zfp219	T	A	14: 52,244,606 (GRCm39)		probably null	Het
Zfp629	G	A	7: 127,209,542 (GRCm39)	H756Y	probably damaging	Het
Zfp748	T	C	13: 67,689,292 (GRCm39)	K656R	possibly damaging	Het
Zfp958	T	A	8: 4,679,072 (GRCm39)	Y366N	probably benign	Het
Zp3	C	T	5: 136,017,377 (GRCm39)	T396I	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
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
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

Predicted Primers

PCR Primer
(F):5'- CATCTTGTGGTAGGAACAGTGG -3'
(R):5'- TGCTATAGTTCATCTCTGTCAGG -3'

Sequencing Primer
(F):5'- TGTGGTAGGAACAGTGGGATTATAAG -3'
(R):5'- ATATGAACGCTGGCTTCC -3'

Posted On

2017-02-28