Incidental Mutation 'R6764:Itga4'
ID 531805
Institutional Source Beutler Lab
Gene Symbol Itga4
Ensembl Gene ENSMUSG00000027009
Gene Name integrin alpha 4
Synonyms VLA-4 receptor, alpha 4 subunit
MMRRC Submission 044880-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6764 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 79085770-79163467 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 79155958 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 975 (H975N)
Ref Sequence ENSEMBL: ENSMUSP00000099718 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099972] [ENSMUST00000156731]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000099972
AA Change: H975N

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000099718
Gene: ENSMUSG00000027009
AA Change: H975N

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
Predicted Effect probably benign
Transcript: ENSMUST00000156731
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.5%
Validation Efficiency 100% (39/39)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff4 G T 11: 53,290,657 (GRCm39) R539L probably damaging Het
Aox1 T A 1: 58,389,441 (GRCm39) Y1147N probably damaging Het
Arhgef25 A G 10: 127,019,970 (GRCm39) F423L probably damaging Het
Atp1a2 A T 1: 172,112,181 (GRCm39) D571E probably benign Het
Bank1 A G 3: 135,948,701 (GRCm39) S159P probably damaging Het
Bcan C A 3: 87,895,685 (GRCm39) R817L probably damaging Het
Cacna1g A G 11: 94,304,014 (GRCm39) S1990P possibly damaging Het
Ccna1 G A 3: 54,953,499 (GRCm39) T368M probably damaging Het
Chia1 T C 3: 106,038,056 (GRCm39) probably null Het
Ctbp1 T C 5: 33,416,589 (GRCm39) H136R possibly damaging Het
Dner T G 1: 84,472,502 (GRCm39) D366A probably damaging Het
Eif3d A T 15: 77,845,886 (GRCm39) D378E probably damaging Het
Evpl A G 11: 116,113,770 (GRCm39) S1307P probably damaging Het
Fgd5 T A 6: 91,966,402 (GRCm39) N720K probably damaging Het
Fmn1 A G 2: 113,355,560 (GRCm39) E667G unknown Het
Gm4846 A G 1: 166,319,121 (GRCm39) C206R probably benign Het
Grpel1 G A 5: 36,622,569 (GRCm39) R11H probably benign Het
Gsn A G 2: 35,174,056 (GRCm39) Y55C probably damaging Het
Hephl1 G A 9: 15,000,217 (GRCm39) T345I possibly damaging Het
Ints2 T A 11: 86,103,605 (GRCm39) K1150N probably benign Het
Musk T C 4: 58,354,027 (GRCm39) V360A probably damaging Het
Naalad2 A T 9: 18,314,185 (GRCm39) probably benign Het
Ninj2 G T 6: 120,175,011 (GRCm39) A51S probably benign Het
Nscme3l A G 19: 5,552,900 (GRCm39) S294P probably damaging Het
Pcdhac1 T C 18: 37,223,732 (GRCm39) Y182H probably damaging Het
Pitpnm3 A G 11: 71,942,059 (GRCm39) F916S probably damaging Het
Sfrp5 T A 19: 42,188,238 (GRCm39) M194L probably benign Het
Sigirr C T 7: 140,673,155 (GRCm39) V99I probably benign Het
Smco2 A G 6: 146,772,827 (GRCm39) D343G probably damaging Het
Snap91 A G 9: 86,674,234 (GRCm39) I584T probably benign Het
Syne1 G A 10: 5,179,011 (GRCm39) Q4488* probably null Het
Tbc1d24 A C 17: 24,404,754 (GRCm39) F130C possibly damaging Het
Trpm7 A G 2: 126,686,340 (GRCm39) V296A possibly damaging Het
Ttll11 T C 2: 35,780,460 (GRCm39) probably null Het
Vmn2r115 A G 17: 23,565,046 (GRCm39) D311G probably damaging Het
Vmn2r63 A G 7: 42,552,695 (GRCm39) S854P probably damaging Het
Zfp330 C T 8: 83,493,934 (GRCm39) C109Y probably damaging Het
Zfp534 C T 4: 147,759,175 (GRCm39) G498D probably benign Het
Zfp62 A G 11: 49,105,996 (GRCm39) D29G 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
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'- GCTGTAGAGCATTCCACTCACTG -3'
(R):5'- TTGGCTTTGAGACAATAAAGGC -3'

Sequencing Primer
(F):5'- CTAAACAGTTGCCAGGGCTTG -3'
(R):5'- GGCTTTGAGACAATAAAGGCATTTTG -3'
Posted On 2018-08-29