Incidental Mutation 'R1471:Itga4'
ID 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 2
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

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 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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