Incidental Mutation 'R8445:Itga4'
ID 654430
Institutional Source Beutler Lab
Gene Symbol Itga4
Ensembl Gene ENSMUSG00000027009
Gene Name integrin alpha 4
Synonyms VLA-4 receptor, alpha 4 subunit
MMRRC Submission 067886-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8445 (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 79112125 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 347 (M347V)
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: M347V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099718
Gene: ENSMUSG00000027009
AA Change: M347V

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: 100.0%
  • 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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam10 T G 9: 70,674,203 (GRCm39) S522A probably benign Het
Akap13 G A 7: 75,380,213 (GRCm39) R462H probably damaging Het
Alg12 C T 15: 88,698,689 (GRCm39) R212Q probably benign Het
C330018D20Rik G A 18: 57,090,962 (GRCm39) P67L probably damaging Het
Col3a1 C T 1: 45,380,340 (GRCm39) R955* probably null Het
Cyp2j12 T A 4: 96,021,259 (GRCm39) I116F possibly damaging Het
Cyp4a10 T A 4: 115,382,791 (GRCm39) W331R probably damaging Het
Dmbt1 T A 7: 130,692,110 (GRCm39) Y959N unknown Het
Dytn T A 1: 63,686,673 (GRCm39) K332N probably benign Het
E130308A19Rik T A 4: 59,720,526 (GRCm39) V686D probably damaging Het
Epha8 T C 4: 136,659,600 (GRCm39) Y792C probably benign Het
Fam53c T C 18: 34,901,368 (GRCm39) V95A probably benign Het
Fbxl4 C A 4: 22,385,983 (GRCm39) Q197K probably benign Het
Fmod G A 1: 133,968,736 (GRCm39) V259I probably benign Het
Insrr T C 3: 87,720,891 (GRCm39) S1050P probably damaging Het
Kdm5d A G Y: 916,874 (GRCm39) E423G probably damaging Het
Klra7 A T 6: 130,204,078 (GRCm39) I147N possibly damaging Het
Lbx1 T A 19: 45,222,651 (GRCm39) K124I probably damaging Het
Map4k5 T A 12: 69,897,741 (GRCm39) H138L probably damaging Het
Mc3r A G 2: 172,091,237 (GRCm39) H153R probably damaging Het
Myh15 C A 16: 48,940,381 (GRCm39) T777N probably damaging Het
Nfatc4 A C 14: 56,063,875 (GRCm39) I121L possibly damaging Het
Nipa1 A T 7: 55,629,466 (GRCm39) S216T probably benign Het
Nlrp4e A T 7: 23,039,965 (GRCm39) I763L probably benign Het
Nop2 A G 6: 125,111,567 (GRCm39) D100G probably benign Het
Or2a52 A G 6: 43,144,231 (GRCm39) M80V probably benign Het
Or8b12i T A 9: 20,082,394 (GRCm39) I158L probably benign Het
Prelid3a A G 18: 67,606,848 (GRCm39) E80G probably damaging Het
Prl4a1 T C 13: 28,205,445 (GRCm39) S137P possibly damaging Het
Rbpms2 C T 9: 65,558,303 (GRCm39) A113V possibly damaging Het
Rph3a T C 5: 121,111,433 (GRCm39) E49G probably damaging Het
Shisa7 A T 7: 4,839,352 (GRCm39) M124K probably benign Het
Shprh C T 10: 11,057,313 (GRCm39) P1078S possibly damaging Het
Slc30a7 C T 3: 115,800,995 (GRCm39) probably benign Het
Smarca4 CGAGGAGGAGGAGGAGG CGAGGAGGAGGAGG 9: 21,612,239 (GRCm39) probably benign Het
Smg1 A C 7: 117,736,200 (GRCm39) N3563K possibly damaging Het
Spata31d1c G T 13: 65,180,991 (GRCm39) S30I probably damaging Het
St6galnac6 A G 2: 32,498,532 (GRCm39) probably benign Het
Tcp11l1 C A 2: 104,512,278 (GRCm39) E451D probably benign Het
Tfpt G A 7: 3,623,928 (GRCm39) P160S probably damaging Het
Thbs4 C A 13: 92,927,349 (GRCm39) A47S probably benign Het
Trpm2 T C 10: 77,746,086 (GRCm39) D1482G probably damaging Het
Tspyl4 C T 10: 34,173,742 (GRCm39) A78V probably benign Het
Vmn2r26 A G 6: 124,002,995 (GRCm39) N135S probably damaging Het
Vmn2r87 A T 10: 130,313,335 (GRCm39) V477E probably damaging Het
Wdr89 T C 12: 75,679,636 (GRCm39) D206G probably damaging Het
Zfp623 C A 15: 75,819,402 (GRCm39) Y119* probably null Het
Zfp879 A G 11: 50,724,213 (GRCm39) M281T probably damaging Het
Zfp952 T G 17: 33,222,552 (GRCm39) F344V possibly damaging Het
Zgrf1 T C 3: 127,379,854 (GRCm39) probably null 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
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
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'- AGTGCCGTGTATTCTCATTGC -3'
(R):5'- TTCGGAGCGTCAATACAACAG -3'

Sequencing Primer
(F):5'- GCATATATTCTTTGCTTTGGAACAGC -3'
(R):5'- CCAAGTTGGATCTCAGGAATATGC -3'
Posted On 2020-10-20