Mutagenetix > Incidental Mutation

Incidental Mutation 'R2241:Itga4'

240651

Institutional Source

Beutler Lab

Gene Symbol

Itga4

Ensembl Gene

ENSMUSG00000027009

Gene Name

integrin alpha 4

Synonyms

VLA-4 receptor, alpha 4 subunit

MMRRC Submission

040241-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2241 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79085770-79163467 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79131357 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 575 (I575N)

Ref Sequence

ENSEMBL: ENSMUSP00000099718 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000099972
AA Change: I575N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099718
Gene: ENSMUSG00000027009
AA Change: I575N

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

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.7%

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
Adcy8	G	T	15: 64,571,230 (GRCm39)	L1138I	possibly damaging	Het
Aftph	T	C	11: 20,676,328 (GRCm39)	D427G	possibly damaging	Het
Cep350	C	T	1: 155,834,302 (GRCm39)		probably null	Het
Clca4b	A	T	3: 144,616,987 (GRCm39)	S888T	probably benign	Het
Cyb5b	A	G	8: 107,897,045 (GRCm39)	D105G	probably benign	Het
Ddx20	A	C	3: 105,590,521 (GRCm39)	Y258*	probably null	Het
Farp2	C	T	1: 93,507,625 (GRCm39)	T441I	probably benign	Het
Fzd6	G	T	15: 38,894,931 (GRCm39)	A366S	probably damaging	Het
Gpr149	A	G	3: 62,511,474 (GRCm39)	V175A	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Kcnj14	C	T	7: 45,469,325 (GRCm39)	R60H	probably benign	Het
Lrch3	A	G	16: 32,816,211 (GRCm39)	T151A	probably damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mterf2	T	C	10: 84,956,180 (GRCm39)	N148S	possibly damaging	Het
Nae1	A	C	8: 105,246,420 (GRCm39)	D268E	probably benign	Het
Or5p5	T	C	7: 107,414,040 (GRCm39)	V83A	possibly damaging	Het
Or6c211	G	A	10: 129,505,764 (GRCm39)	T208I	probably damaging	Het
Or8b48	A	G	9: 38,493,101 (GRCm39)	H176R	probably damaging	Het
Pcnx4	T	C	12: 72,620,928 (GRCm39)	L916P	probably damaging	Het
Prune2	T	A	19: 17,100,456 (GRCm39)	Y1987N	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,631,737 (GRCm39)	L2096P	probably damaging	Het
Serpina3m	G	A	12: 104,355,708 (GRCm39)	S125N	probably benign	Het
Tep1	G	C	14: 51,091,667 (GRCm39)	R625G	probably benign	Het
Vmn2r102	T	C	17: 19,897,003 (GRCm39)	Y117H	probably benign	Het
Wdfy4	A	T	14: 32,795,468 (GRCm39)	N2091K	possibly damaging	Het
Yme1l1	C	T	2: 23,086,912 (GRCm39)	R673*	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
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
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

Predicted Primers

PCR Primer
(F):5'- GGGACCTTTGGGATAGCGTT -3'
(R):5'- AGGTACTCATGTGACTAAATGCAA -3'

Sequencing Primer
(F):5'- ACCTTTGGGATAGCGTTGAAAATG -3'
(R):5'- ATATTCAACTGAACATCCCAAAGG -3'

Posted On

2014-10-15