Incidental Mutation 'R7311:Itga4'
ID 567566
Institutional Source Beutler Lab
Gene Symbol Itga4
Ensembl Gene ENSMUSG00000027009
Gene Name integrin alpha 4
Synonyms VLA-4 receptor, alpha 4 subunit
MMRRC Submission 045367-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7311 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 79085770-79163467 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79086526 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 68 (I68V)
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: I68V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099718
Gene: ENSMUSG00000027009
AA Change: I68V

DomainStartEndE-ValueType
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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik A G 12: 110,635,184 (GRCm39) V118A probably benign Het
Accsl C T 2: 93,696,160 (GRCm39) G146D possibly damaging Het
Acsm1 A T 7: 119,237,305 (GRCm39) H206L probably damaging Het
Acta2 A G 19: 34,219,186 (GRCm39) Y339H probably damaging Het
Adcy2 T C 13: 68,779,073 (GRCm39) D989G probably damaging Het
Ahnak G A 19: 8,979,507 (GRCm39) A264T probably benign Het
Ahnak A G 19: 8,987,191 (GRCm39) D2825G possibly damaging Het
Akt1 G T 12: 112,623,587 (GRCm39) T291K probably damaging Het
Arhgap24 A G 5: 103,040,551 (GRCm39) D589G probably damaging Het
B4galnt3 G A 6: 120,192,396 (GRCm39) Q447* probably null Het
BC024063 C T 10: 81,945,993 (GRCm39) R538C possibly damaging Het
Bod1l A G 5: 41,951,676 (GRCm39) S2912P possibly damaging Het
Bysl A G 17: 47,912,710 (GRCm39) V360A possibly damaging Het
C1qb A G 4: 136,607,877 (GRCm39) V162A possibly damaging Het
Ccdc57 G A 11: 120,764,567 (GRCm39) P736L probably benign Het
Cep290 T A 10: 100,373,580 (GRCm39) F1287I probably damaging Het
Cntn1 T C 15: 92,130,156 (GRCm39) probably null Het
Col6a3 C T 1: 90,750,013 (GRCm39) G274R probably damaging Het
Cplane1 G T 15: 8,210,399 (GRCm39) V291F probably damaging Het
Cyb5r4 T C 9: 86,937,835 (GRCm39) C285R probably damaging Het
Cyp4f39 G A 17: 32,708,629 (GRCm39) C392Y probably damaging Het
Dcun1d3 A T 7: 119,458,734 (GRCm39) D100E probably damaging Het
Dhx58 A T 11: 100,588,997 (GRCm39) D516E probably benign Het
Dock5 T A 14: 68,065,951 (GRCm39) I351F probably benign Het
Elmod2 A C 8: 84,046,041 (GRCm39) probably null Het
Endov G A 11: 119,398,077 (GRCm39) A281T probably benign Het
Epyc A G 10: 97,485,562 (GRCm39) M1V probably null Het
Espnl T A 1: 91,251,290 (GRCm39) H128Q probably damaging Het
Fam20a A T 11: 109,565,454 (GRCm39) C452* probably null Het
Fam241b A G 10: 61,944,733 (GRCm39) V88A probably damaging Het
Fbxl9 A G 8: 106,042,299 (GRCm39) probably benign Het
Fgd3 A T 13: 49,450,166 (GRCm39) S28T possibly damaging Het
Fmn1 C A 2: 113,356,025 (GRCm39) P920Q unknown Het
Gpr139 G C 7: 118,744,089 (GRCm39) D165E probably benign Het
Hoxb1 A G 11: 96,257,927 (GRCm39) T286A possibly damaging Het
Ifi204 T A 1: 173,587,134 (GRCm39) E174D probably benign Het
Igf2bp2 A G 16: 21,880,632 (GRCm39) I555T possibly damaging Het
Ighv1-85 A G 12: 115,963,799 (GRCm39) I67T probably damaging Het
Ihh G C 1: 74,990,306 (GRCm39) P23R unknown Het
Irx2 T C 13: 72,779,396 (GRCm39) S227P probably damaging Het
Jsrp1 T A 10: 80,647,906 (GRCm39) T51S probably benign Het
Khdc4 T C 3: 88,619,002 (GRCm39) S569P probably damaging Het
Kifc2 G T 15: 76,547,010 (GRCm39) G306V probably damaging Het
L3mbtl2 T A 15: 81,551,588 (GRCm39) S85T possibly damaging Het
Lama1 T C 17: 68,074,380 (GRCm39) S944P Het
Lama4 T A 10: 38,902,631 (GRCm39) C202S probably damaging Het
Morc3 G A 16: 93,646,061 (GRCm39) D218N probably damaging Het
Mrtfb T A 16: 13,223,718 (GRCm39) Y866* probably null Het
Myorg A G 4: 41,498,577 (GRCm39) I351T probably damaging Het
N4bp2l1 G A 5: 150,496,389 (GRCm39) T179I probably damaging Het
Narf A G 11: 121,139,976 (GRCm39) E270G probably benign Het
Nsd2 A G 5: 34,049,380 (GRCm39) D1205G probably damaging Het
Or10x1 T C 1: 174,196,759 (GRCm39) V92A probably benign Het
Or5an11 T C 19: 12,246,068 (GRCm39) V158A probably benign Het
Parl T C 16: 20,106,625 (GRCm39) T195A probably benign Het
Phrf1 A G 7: 140,820,846 (GRCm39) I158V unknown Het
Phtf1 T C 3: 103,904,980 (GRCm39) F543L possibly damaging Het
Plod2 T A 9: 92,466,611 (GRCm39) D190E probably damaging Het
Polr1a G T 6: 71,927,863 (GRCm39) K871N possibly damaging Het
Ppp2r5a A T 1: 191,089,998 (GRCm39) I252K probably damaging Het
Ptgir T A 7: 16,640,973 (GRCm39) D88E probably damaging Het
Raly T C 2: 154,699,340 (GRCm39) V48A probably damaging Het
Ripor1 T A 8: 106,344,447 (GRCm39) L527* probably null Het
Rnf213 T C 11: 119,307,373 (GRCm39) S678P Het
Rpf1 T A 3: 146,212,918 (GRCm39) Q306L probably benign Het
Rpl14 T C 9: 120,403,171 (GRCm39) I122T probably damaging Het
Scn9a C A 2: 66,314,748 (GRCm39) A1657S possibly damaging Het
Serpinb10 A G 1: 107,474,477 (GRCm39) Y213C probably damaging Het
Slc25a23 A G 17: 57,359,827 (GRCm39) L308P probably damaging Het
Smg9 T A 7: 24,120,058 (GRCm39) M387K probably benign Het
Socs3 G A 11: 117,858,614 (GRCm39) P148L probably benign Het
Susd3 A G 13: 49,401,906 (GRCm39) L14P probably benign Het
Syt14 T A 1: 192,662,858 (GRCm39) M80L probably benign Het
Tmprss2 T A 16: 97,369,616 (GRCm39) Y386F possibly damaging Het
Tmx3 T A 18: 90,558,195 (GRCm39) S416T probably benign Het
Treh A G 9: 44,597,245 (GRCm39) T555A probably benign Het
Ttc5 T G 14: 51,003,400 (GRCm39) Q428P probably damaging Het
Vmn2r73 A G 7: 85,521,192 (GRCm39) S259P possibly damaging Het
Vps4b A T 1: 106,719,434 (GRCm39) V38E probably damaging Het
Wdr83 C A 8: 85,802,890 (GRCm39) R177L probably benign Het
Zfp780b A G 7: 27,662,588 (GRCm39) F656L possibly damaging Het
Zfp995 A T 17: 22,099,641 (GRCm39) F198I probably benign Het
Zswim8 A T 14: 20,771,552 (GRCm39) Y1495F probably damaging Het
Other mutations in Itga4
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- CTTATCTTGGGATGGCAGCC -3'
(R):5'- AGAAGAGACCAGCATCATAGTGTC -3'

Sequencing Primer
(F):5'- GGATGGCAGCCCCCAGG -3'
(R):5'- GACCAGCATCATAGTGTCTTCCAGG -3'
Posted On 2019-06-26