Mutagenetix > Incidental Mutation

Incidental Mutation 'R1471:Itga4'

164851

Institutional Source

Beutler Lab

Gene Symbol

Itga4

Ensembl Gene

ENSMUSG00000027009

Gene Name

integrin alpha 4

Synonyms

VLA-4 receptor, alpha 4 subunit

MMRRC Submission

039524-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1471 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79255426-79333123 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79287032 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 394 (D394G)

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: D394G

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099718
Gene: ENSMUSG00000027009
AA Change: D394G

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

1x: 99.3%
3x: 98.6%
10x: 96.8%
20x: 94.4%

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	T	11: 23,615,222 (GRCm38)	M255K	probably damaging	Het
4930486L24Rik	C	A	13: 60,853,522 (GRCm38)	K130N	probably damaging	Het
Adam6a	T	A	12: 113,544,393 (GRCm38)	S129T	probably damaging	Het
Adamts10	T	A	17: 33,553,138 (GRCm38)	F1087I	probably damaging	Het
Afp	T	A	5: 90,503,682 (GRCm38)	N385K	possibly damaging	Het
Ahnak	T	G	19: 9,012,932 (GRCm38)		probably benign	Het
Akap6	A	G	12: 53,141,496 (GRCm38)	T1898A	probably benign	Het
Antxr2	C	A	5: 97,975,340 (GRCm38)	V283F	possibly damaging	Het
Asgr1	T	C	11: 70,056,093 (GRCm38)	V55A	possibly damaging	Het
Asxl3	A	G	18: 22,516,354 (GRCm38)	K467E	probably damaging	Het
Atp5a1	C	A	18: 77,781,269 (GRCm38)	Q398K	probably damaging	Het
Atxn2	T	A	5: 121,786,374 (GRCm38)	D455E	probably damaging	Het
B4galt6	C	T	18: 20,745,353 (GRCm38)	A39T	possibly damaging	Het
C130073F10Rik	C	T	4: 101,890,338 (GRCm38)	E165K	probably benign	Het
Cabin1	A	G	10: 75,694,792 (GRCm38)	C1519R	probably damaging	Het
Casp8ap2	C	T	4: 32,639,386 (GRCm38)	R147*	probably null	Het
Ccdc88b	A	G	19: 6,854,023 (GRCm38)	L517P	probably benign	Het
Cd109	G	A	9: 78,654,587 (GRCm38)	V220I	probably damaging	Het
Cd2ap	T	C	17: 42,820,597 (GRCm38)	K369R	probably benign	Het
Cd300c	A	G	11: 114,959,788 (GRCm38)	V63A	probably benign	Het
Cnot10	A	G	9: 114,591,551 (GRCm38)	V741A	probably benign	Het
Col18a1	G	T	10: 77,096,206 (GRCm38)	Q350K	unknown	Het
Crnkl1	T	C	2: 145,932,316 (GRCm38)	K76E	possibly damaging	Het
Cryzl2	A	G	1: 157,470,721 (GRCm38)	K227E	probably benign	Het
Cts6	G	A	13: 61,196,380 (GRCm38)	T286I	probably benign	Het
Cul1	T	C	6: 47,514,886 (GRCm38)	V392A	probably damaging	Het
Dcaf7	T	A	11: 106,046,747 (GRCm38)	F65L	probably benign	Het
Dgke	A	C	11: 89,055,494 (GRCm38)	V160G	possibly damaging	Het
Dock8	C	A	19: 25,201,036 (GRCm38)	Q2098K	possibly damaging	Het
Efhb	T	A	17: 53,399,112 (GRCm38)	D799V	possibly damaging	Het
Ephb2	T	C	4: 136,658,951 (GRCm38)	D829G	probably benign	Het
Exosc1	A	T	19: 41,924,718 (GRCm38)	S117R	probably damaging	Het
Fga	T	C	3: 83,028,618 (GRCm38)	S51P	probably benign	Het
Fmn1	T	C	2: 113,693,094 (GRCm38)	F1141L	possibly damaging	Het
Foxm1	C	T	6: 128,373,874 (GRCm38)	L713F	probably damaging	Het
Galnt4	A	G	10: 99,108,674 (GRCm38)	E87G	probably benign	Het
Gamt	T	C	10: 80,260,858 (GRCm38)	D15G	probably benign	Het
Gm13101	T	C	4: 143,964,953 (GRCm38)	N400S	probably benign	Het
Gm15557	C	A	2: 155,942,254 (GRCm38)	D154E	possibly damaging	Het
Gnptab	A	G	10: 88,445,763 (GRCm38)	I1211V	probably benign	Het
Greb1	A	T	12: 16,711,774 (GRCm38)	M535K	probably damaging	Het
Grm8	C	A	6: 27,363,309 (GRCm38)	A736S	possibly damaging	Het
Hspa14	T	C	2: 3,491,608 (GRCm38)	I373M	probably benign	Het
Ifi207	T	A	1: 173,730,063 (GRCm38)	T370S	unknown	Het
Igf1r	A	G	7: 68,003,837 (GRCm38)	N41S	probably damaging	Het
Ikzf5	A	T	7: 131,391,767 (GRCm38)	V224D	probably damaging	Het
Il10	C	A	1: 131,021,373 (GRCm38)	Y90*	probably null	Het
Kif21a	A	T	15: 90,956,419 (GRCm38)	S1165T	probably benign	Het
Krtap14	A	G	16: 88,825,627 (GRCm38)	S155P	probably damaging	Het
Loxl2	A	G	14: 69,693,097 (GRCm38)	N770S	probably benign	Het
Man2b1	A	G	8: 85,086,845 (GRCm38)	D222G	probably damaging	Het
Mcub	T	A	3: 129,915,815 (GRCm38)	Y283F	probably damaging	Het
Meis3	T	A	7: 16,177,571 (GRCm38)	Y64*	probably null	Het
Mfsd6	T	A	1: 52,709,557 (GRCm38)	I50F	probably benign	Het
Micu2	T	C	14: 57,945,397 (GRCm38)	T165A	probably damaging	Het
Mtcl1	T	C	17: 66,379,148 (GRCm38)	E921G	probably damaging	Het
Muc5b	A	T	7: 141,843,234 (GRCm38)	N215Y	unknown	Het
Muc6	A	G	7: 141,647,909 (GRCm38)	F772L	possibly damaging	Het
Myt1	A	G	2: 181,797,111 (GRCm38)	D142G	probably benign	Het
Nol6	C	T	4: 41,120,281 (GRCm38)	V479I	probably benign	Het
Nsun7	A	G	5: 66,284,229 (GRCm38)	K414E	probably benign	Het
Nup210l	A	C	3: 90,170,562 (GRCm38)	I914L	probably benign	Het
Obox3	G	A	7: 15,626,950 (GRCm38)	P88L	probably benign	Het
Olfr1098	C	T	2: 86,922,578 (GRCm38)		probably null	Het
Olfr1122	A	G	2: 87,388,518 (GRCm38)	Y271C	probably damaging	Het
Olfr1132	T	C	2: 87,635,670 (GRCm38)	T26A	probably benign	Het
Olfr1289	T	C	2: 111,484,006 (GRCm38)	L192P	probably damaging	Het
Pclo	T	C	5: 14,680,427 (GRCm38)		probably benign	Het
Pcsk5	T	C	19: 17,568,324 (GRCm38)	N745D	probably damaging	Het
Pdzrn3	T	A	6: 101,151,512 (GRCm38)	N731I	possibly damaging	Het
Pkdrej	T	A	15: 85,817,133 (GRCm38)	Q1534L	probably benign	Het
Rell1	T	A	5: 63,936,085 (GRCm38)	D109V	probably damaging	Het
Rplp0	C	T	5: 115,563,344 (GRCm38)	T285I	probably damaging	Het
Sema3g	C	T	14: 31,228,045 (GRCm38)	R728C	probably damaging	Het
Slc15a2	A	G	16: 36,753,791 (GRCm38)	Y536H	probably damaging	Het
Slc26a5	T	A	5: 21,816,964 (GRCm38)	Y488F	probably benign	Het
Slc5a4a	A	T	10: 76,186,528 (GRCm38)	S566C	probably damaging	Het
Spink7	C	T	18: 62,596,204 (GRCm38)	E21K	possibly damaging	Het
Src	C	T	2: 157,457,187 (GRCm38)	Q35*	probably null	Het
Srrm2	T	A	17: 23,820,796 (GRCm38)	V2234E	probably damaging	Het
Stk36	A	T	1: 74,611,155 (GRCm38)	Q282L	probably benign	Het
Tas2r118	T	G	6: 23,969,171 (GRCm38)	E297A	probably damaging	Het
Terf1	A	G	1: 15,842,970 (GRCm38)	Y385C	probably damaging	Het
Tmc3	T	C	7: 83,598,290 (GRCm38)	S198P	probably damaging	Het
Tmprss11b	C	T	5: 86,660,496 (GRCm38)	R407H	possibly damaging	Het
Tspyl4	G	A	10: 34,298,111 (GRCm38)	E200K	probably damaging	Het
Ttc21a	T	C	9: 119,942,641 (GRCm38)	Y169H	probably damaging	Het
Ugt2b36	C	T	5: 87,092,071 (GRCm38)	D152N	probably damaging	Het
Unk	T	C	11: 116,049,409 (GRCm38)	I196T	probably benign	Het
Uroc1	T	G	6: 90,344,171 (GRCm38)	V243G	probably damaging	Het
Usp34	C	A	11: 23,488,862 (GRCm38)	Q3475K	probably benign	Het
Vmn2r117	T	A	17: 23,478,473 (GRCm38)	I82L	probably benign	Het
Vmn2r44	A	T	7: 8,377,883 (GRCm38)	V337E	probably damaging	Het
Zbtb14	C	A	17: 69,388,502 (GRCm38)	F398L	probably damaging	Het
Zfp362	T	C	4: 128,787,200 (GRCm38)	T111A	probably benign	Het
Zfp598	T	C	17: 24,680,072 (GRCm38)	V615A	probably benign	Het

Other mutations in Itga4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Itga4	APN	2	79,292,050 (GRCm38)	missense	probably benign	0.01
IGL01317:Itga4	APN	2	79,322,661 (GRCm38)	nonsense	probably null
IGL01545:Itga4	APN	2	79,315,970 (GRCm38)	splice site	probably benign
IGL01570:Itga4	APN	2	79,322,634 (GRCm38)	critical splice acceptor site	probably null
IGL01575:Itga4	APN	2	79,288,255 (GRCm38)	missense	probably damaging	1.00
IGL01837:Itga4	APN	2	79,315,005 (GRCm38)	missense	probably damaging	1.00
IGL01974:Itga4	APN	2	79,273,127 (GRCm38)	splice site	probably benign
IGL02087:Itga4	APN	2	79,292,069 (GRCm38)	missense	probably damaging	0.99
IGL02245:Itga4	APN	2	79,320,559 (GRCm38)	missense	probably benign	0.01
IGL02492:Itga4	APN	2	79,255,657 (GRCm38)	utr 5 prime	probably benign
IGL02809:Itga4	APN	2	79,280,577 (GRCm38)	missense	probably damaging	1.00
IGL02998:Itga4	APN	2	79,277,821 (GRCm38)	missense	possibly damaging	0.88
IGL03008:Itga4	APN	2	79,325,638 (GRCm38)	missense	probably benign
IGL03282:Itga4	APN	2	79,325,594 (GRCm38)	missense	probably damaging	0.98
IGL03285:Itga4	APN	2	79,279,166 (GRCm38)	missense	possibly damaging	0.48
IGL03286:Itga4	APN	2	79,289,362 (GRCm38)	missense	probably damaging	1.00
R0001:Itga4	UTSW	2	79,326,587 (GRCm38)	missense	probably damaging	0.99
R0045:Itga4	UTSW	2	79,301,031 (GRCm38)	missense	probably damaging	1.00
R0276:Itga4	UTSW	2	79,321,493 (GRCm38)	missense	probably damaging	0.99
R0554:Itga4	UTSW	2	79,279,117 (GRCm38)	missense	probably damaging	1.00
R0556:Itga4	UTSW	2	79,325,639 (GRCm38)	missense	probably benign
R0785:Itga4	UTSW	2	79,289,305 (GRCm38)	missense	possibly damaging	0.89
R0787:Itga4	UTSW	2	79,279,153 (GRCm38)	missense	probably benign	0.01
R1013:Itga4	UTSW	2	79,320,503 (GRCm38)	missense	probably benign	0.00
R1237:Itga4	UTSW	2	79,279,146 (GRCm38)	missense	probably null	0.08
R1295:Itga4	UTSW	2	79,322,689 (GRCm38)	missense	possibly damaging	0.82
R1559:Itga4	UTSW	2	79,315,688 (GRCm38)	missense	probably benign	0.04
R1769:Itga4	UTSW	2	79,315,706 (GRCm38)	critical splice donor site	probably null
R1931:Itga4	UTSW	2	79,313,844 (GRCm38)	critical splice donor site	probably null
R2012:Itga4	UTSW	2	79,277,794 (GRCm38)	missense	probably damaging	1.00
R2241:Itga4	UTSW	2	79,301,013 (GRCm38)	missense	probably damaging	1.00
R3793:Itga4	UTSW	2	79,279,128 (GRCm38)	missense	probably benign	0.01
R4133:Itga4	UTSW	2	79,322,652 (GRCm38)	missense	probably damaging	1.00
R4204:Itga4	UTSW	2	79,279,161 (GRCm38)	missense	probably damaging	0.97
R4296:Itga4	UTSW	2	79,272,799 (GRCm38)	missense	probably damaging	1.00
R4777:Itga4	UTSW	2	79,313,710 (GRCm38)	missense	possibly damaging	0.87
R4906:Itga4	UTSW	2	79,288,248 (GRCm38)	missense	probably damaging	1.00
R5048:Itga4	UTSW	2	79,273,034 (GRCm38)	missense	probably benign	0.04
R5087:Itga4	UTSW	2	79,315,629 (GRCm38)	missense	possibly damaging	0.95
R5212:Itga4	UTSW	2	79,280,595 (GRCm38)	missense	probably damaging	1.00
R5213:Itga4	UTSW	2	79,320,576 (GRCm38)	missense	probably benign	0.29
R5421:Itga4	UTSW	2	79,316,041 (GRCm38)	nonsense	probably null
R5549:Itga4	UTSW	2	79,256,267 (GRCm38)	missense	probably damaging	0.98
R5907:Itga4	UTSW	2	79,322,656 (GRCm38)	missense	probably benign
R5917:Itga4	UTSW	2	79,287,098 (GRCm38)	missense	probably damaging	1.00
R6309:Itga4	UTSW	2	79,279,085 (GRCm38)	missense	probably damaging	1.00
R6764:Itga4	UTSW	2	79,325,614 (GRCm38)	missense	probably benign	0.02
R6787:Itga4	UTSW	2	79,289,265 (GRCm38)	missense	probably damaging	0.97
R6790:Itga4	UTSW	2	79,325,614 (GRCm38)	missense	probably benign	0.02
R7051:Itga4	UTSW	2	79,318,126 (GRCm38)	missense	possibly damaging	0.91
R7311:Itga4	UTSW	2	79,256,182 (GRCm38)	missense	probably benign
R7520:Itga4	UTSW	2	79,300,989 (GRCm38)	missense	probably damaging	1.00
R7573:Itga4	UTSW	2	79,272,993 (GRCm38)	missense	probably benign
R7636:Itga4	UTSW	2	79,313,832 (GRCm38)	missense	probably benign	0.01
R7889:Itga4	UTSW	2	79,316,045 (GRCm38)	missense	probably benign	0.05
R8123:Itga4	UTSW	2	79,315,683 (GRCm38)	missense	probably benign
R8284:Itga4	UTSW	2	79,321,439 (GRCm38)	missense	probably benign	0.00
R8445:Itga4	UTSW	2	79,281,781 (GRCm38)	missense	probably benign
R8553:Itga4	UTSW	2	79,301,061 (GRCm38)	missense	probably damaging	0.97
R8696:Itga4	UTSW	2	79,281,781 (GRCm38)	missense	probably benign
R8900:Itga4	UTSW	2	79,314,988 (GRCm38)	missense	probably damaging	1.00
R8922:Itga4	UTSW	2	79,255,594 (GRCm38)	utr 5 prime	probably benign
R9359:Itga4	UTSW	2	79,325,660 (GRCm38)	missense	possibly damaging	0.48
R9403:Itga4	UTSW	2	79,325,660 (GRCm38)	missense	possibly damaging	0.48

Predicted Primers

PCR Primer
(F):5'- TGCTGCAAAACCACCCACTCTG -3'
(R):5'- AGAGAGACAACAAGTCCACGTTACCA -3'

Sequencing Primer
(F):5'- aagaagtggaagtgggtgg -3'
(R):5'- CGTTACCAGACAAATACTGAGGG -3'

Posted On

2014-03-28