Incidental Mutation 'R7573:Itga4'
ID 586129
Institutional Source Beutler Lab
Gene Symbol Itga4
Ensembl Gene ENSMUSG00000027009
Gene Name integrin alpha 4
Synonyms VLA-4 receptor, alpha 4 subunit
MMRRC Submission 045659-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7573 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 79085770-79163467 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79103337 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 143 (T143A)
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: T143A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099718
Gene: ENSMUSG00000027009
AA Change: T143A

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 99% (80/81)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T A 3: 124,366,917 (GRCm39) I49F Het
1810055G02Rik T A 19: 3,765,728 (GRCm39) M1K probably null Het
Abcb1b G A 5: 8,878,866 (GRCm39) C750Y possibly damaging Het
Abi2 T A 1: 60,509,867 (GRCm39) V412D probably benign Het
Alk C T 17: 72,207,787 (GRCm39) V983M probably damaging Het
Alppl2 A T 1: 87,015,953 (GRCm39) W266R possibly damaging Het
Arhgef18 A G 8: 3,434,918 (GRCm39) R188G probably damaging Het
Atp2c2 A T 8: 120,478,008 (GRCm39) D695V probably damaging Het
B3gnt4 A T 5: 123,648,718 (GRCm39) I28L probably benign Het
C2cd3 A G 7: 100,068,914 (GRCm39) D536G Het
Cacna1c A G 6: 118,581,406 (GRCm39) S1733P Het
Cacna1e T C 1: 154,601,911 (GRCm39) probably benign Het
Capns1 A G 7: 29,891,960 (GRCm39) F101L probably damaging Het
Ccdc180 A G 4: 45,922,015 (GRCm39) T1030A probably benign Het
Cdh23 T C 10: 60,159,329 (GRCm39) T2151A probably benign Het
Cenpe T A 3: 134,953,220 (GRCm39) L1558Q probably damaging Het
Cfap157 T C 2: 32,667,520 (GRCm39) H521R probably benign Het
Crygs T A 16: 22,624,069 (GRCm39) *179C probably null Het
Ctsb T C 14: 63,375,550 (GRCm39) V172A probably benign Het
Cul9 T C 17: 46,830,836 (GRCm39) T1686A probably benign Het
Cutc T C 19: 43,748,382 (GRCm39) V95A probably benign Het
Cxcl3 A G 5: 90,934,105 (GRCm39) T26A probably benign Het
Dnah9 A G 11: 66,016,041 (GRCm39) V400A probably benign Het
Dysf A T 6: 84,107,104 (GRCm39) N1139I possibly damaging Het
Fam136a G A 6: 86,343,667 (GRCm39) E55K probably benign Het
Fam151a A G 4: 106,600,502 (GRCm39) D179G probably damaging Het
Fam178b T C 1: 36,671,533 (GRCm39) D196G probably damaging Het
Fut9 A T 4: 25,620,691 (GRCm39) M41K probably benign Het
Gm9195 T C 14: 72,694,122 (GRCm39) Q1531R probably null Het
Gpr6 A T 10: 40,946,868 (GRCm39) V238D probably damaging Het
Hoxa2 A T 6: 52,140,283 (GRCm39) S234R probably benign Het
Kcnq2 A G 2: 180,723,382 (GRCm39) S693P probably benign Het
Kif13b A G 14: 65,041,107 (GRCm39) I1732V probably benign Het
Klhl14 A G 18: 21,785,211 (GRCm39) V72A probably benign Het
Krt1c T A 15: 101,722,954 (GRCm39) D348V probably benign Het
Map4k2 A T 19: 6,394,094 (GRCm39) E300D probably benign Het
Mars1 A G 10: 127,138,679 (GRCm39) probably null Het
Mpo A G 11: 87,688,403 (GRCm39) D354G probably benign Het
Mrpl15 T C 1: 4,847,778 (GRCm39) T174A probably damaging Het
Myom2 G A 8: 15,172,450 (GRCm39) C1183Y probably damaging Het
Nfkb2 C A 19: 46,297,082 (GRCm39) Q336K possibly damaging Het
Nlrp2 A G 7: 5,320,468 (GRCm39) probably null Het
Nlrp9b T C 7: 19,753,125 (GRCm39) L10P probably damaging Het
Nrip2 A G 6: 128,377,232 (GRCm39) S53G probably benign Het
Or13a22 G A 7: 140,072,912 (GRCm39) M120I probably damaging Het
Or4k36 T C 2: 111,146,277 (GRCm39) I151T probably benign Het
Or52a5b A G 7: 103,416,677 (GRCm39) M309T probably benign Het
Or52z13 C T 7: 103,246,735 (GRCm39) L71F probably benign Het
Or8b54 A T 9: 38,686,791 (GRCm39) K80I probably damaging Het
Or8g18 C T 9: 39,148,977 (GRCm39) V248I probably benign Het
Pak5 A G 2: 135,958,225 (GRCm39) S288P probably damaging Het
Pjvk T C 2: 76,487,809 (GRCm39) F234L probably benign Het
Plekhm2 T C 4: 141,358,658 (GRCm39) N616D probably benign Het
Pnkp C T 7: 44,506,852 (GRCm39) R9C probably damaging Het
Prom1 A G 5: 44,213,272 (GRCm39) C154R probably damaging Het
Rab3gap2 T A 1: 185,014,579 (GRCm39) W1243R probably benign Het
Rad17 C T 13: 100,765,974 (GRCm39) A385T probably damaging Het
Rasgrp1 T C 2: 117,118,424 (GRCm39) I522V probably damaging Het
Rnf213 T C 11: 119,349,310 (GRCm39) C3804R Het
Ros1 T A 10: 52,046,072 (GRCm39) T153S probably benign Het
Sema4g T C 19: 44,986,010 (GRCm39) S284P probably damaging Het
Septin9 C T 11: 117,090,571 (GRCm39) probably benign Het
Slc2a9 T C 5: 38,574,569 (GRCm39) S236G probably damaging Het
Slc9c1 T C 16: 45,398,256 (GRCm39) F674L probably benign Het
Slfn5 A T 11: 82,849,585 (GRCm39) K361N probably damaging Het
Smad6 A G 9: 63,929,052 (GRCm39) L88S unknown Het
Smarca4 T A 9: 21,550,371 (GRCm39) probably null Het
Smg7 A T 1: 152,735,240 (GRCm39) N198K probably damaging Het
Sorcs1 G A 19: 50,141,234 (GRCm39) Q1166* probably null Het
Stap1 A G 5: 86,238,854 (GRCm39) N212S possibly damaging Het
Tbx2 C G 11: 85,724,138 (GRCm39) A69G possibly damaging Het
Tmc1 C A 19: 20,884,372 (GRCm39) D23Y probably damaging Het
Tmf1 A T 6: 97,135,455 (GRCm39) D940E probably benign Het
Trim27 T A 13: 21,364,770 (GRCm39) C36S probably damaging Het
Unc80 G A 1: 66,560,696 (GRCm39) G808D probably damaging Het
Usp17ld G T 7: 102,900,094 (GRCm39) Y279* probably null Het
Usp40 G A 1: 87,913,794 (GRCm39) A433V probably benign Het
Vmn1r49 G A 6: 90,049,843 (GRCm39) A53V probably benign Het
Vmn1r84 T C 7: 12,095,787 (GRCm39) N302S probably benign Het
Wfdc2 A T 2: 164,407,741 (GRCm39) I137L probably benign 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
R7311:Itga4 UTSW 2 79,086,526 (GRCm39) missense probably benign
R7520:Itga4 UTSW 2 79,131,333 (GRCm39) missense probably damaging 1.00
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'- AAATACTGCAGGTAGCCCCAG -3'
(R):5'- GAGTGGACTCCTTCCTTTGC -3'

Sequencing Primer
(F):5'- CCTTGTGGGAAGACATGCCTG -3'
(R):5'- GCTTCTCTTCCTCTAGTTCGGTCAAG -3'
Posted On 2019-10-24