Incidental Mutation 'IGL01636:Itga1'
ID92987
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Itga1
Ensembl Gene ENSMUSG00000042284
Gene Nameintegrin alpha 1
SynonymsCD49A, Vla1, E130012M19Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.382) question?
Stock #IGL01636
Quality Score
Status
Chromosome13
Chromosomal Location114953096-115101964 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 115006948 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 349 (V349A)
Ref Sequence ENSEMBL: ENSMUSP00000077132 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061673]
Predicted Effect possibly damaging
Transcript: ENSMUST00000061673
AA Change: V349A

PolyPhen 2 Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000077132
Gene: ENSMUSG00000042284
AA Change: V349A

DomainStartEndE-ValueType
Int_alpha 43 96 1.63e0 SMART
VWA 170 360 4.24e-44 SMART
Int_alpha 432 481 4.21e-3 SMART
Int_alpha 485 542 3.19e-12 SMART
Int_alpha 566 621 1.79e-15 SMART
Int_alpha 628 682 3.04e1 SMART
low complexity region 1108 1122 N/A INTRINSIC
PDB:2L8S|A 1135 1179 5e-10 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224119
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224268
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224865
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha 1 subunit of integrin receptors. This protein heterodimerizes with the beta 1 subunit to form a cell-surface receptor for collagen and laminin. The heterodimeric receptor is involved in cell-cell adhesion and may play a role in inflammation and fibrosis. The alpha 1 subunit contains an inserted (I) von Willebrand factor type I domain which is thought to be involved in collagen binding. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene are essentially normal although their kidneys are smaller and more succeptible to injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 T C 12: 81,419,949 T633A possibly damaging Het
Adgrd1 G T 5: 129,142,452 probably benign Het
Bmp7 T C 2: 172,875,208 probably benign Het
Ccdc54 A G 16: 50,589,914 *330Q probably null Het
Chd5 A T 4: 152,384,653 K1812* probably null Het
Cnga3 T A 1: 37,260,793 I236N possibly damaging Het
Ddost T G 4: 138,309,396 D135E possibly damaging Het
Dicer1 T C 12: 104,722,241 D359G probably damaging Het
Dnah17 A C 11: 118,041,056 S3697A probably benign Het
Dnttip2 G A 3: 122,282,474 G685D possibly damaging Het
Dst T G 1: 34,215,569 S4552R probably damaging Het
Ebf2 G A 14: 67,239,478 E157K probably damaging Het
Ehbp1 C T 11: 22,089,584 V839M probably benign Het
Ehmt1 G T 2: 24,839,608 T639K probably damaging Het
Esyt2 T C 12: 116,365,930 probably null Het
Etv6 T C 6: 134,248,387 S194P probably benign Het
Fam184b T C 5: 45,584,295 H198R probably benign Het
Fam210b T C 2: 172,351,540 F91S probably damaging Het
Fam81a G A 9: 70,099,152 Q193* probably null Het
Fto A G 8: 91,409,341 D79G probably damaging Het
Haspin C T 11: 73,137,405 R286H possibly damaging Het
Hmcn1 C T 1: 150,580,233 C5312Y probably damaging Het
Ik T A 18: 36,751,201 D245E possibly damaging Het
Kdm8 T C 7: 125,461,205 V400A probably damaging Het
Larp1b G T 3: 40,970,478 R177L probably benign Het
Lifr T G 15: 7,179,018 probably benign Het
Lrrn2 T C 1: 132,937,221 L8P possibly damaging Het
Marc2 T C 1: 184,832,641 K231E probably benign Het
Marcksl1 T A 4: 129,514,794 D55E probably benign Het
Med12 C A X: 101,275,189 S74R probably damaging Het
Olfr1089 G A 2: 86,733,601 Q4* probably null Het
Olfr593 C A 7: 103,212,177 R95S probably benign Het
Olfr781 A T 10: 129,332,883 M1L probably damaging Het
Olfr862 A G 9: 19,884,188 V39A probably benign Het
Orc3 A C 4: 34,595,096 L233R probably damaging Het
Pik3cd A G 4: 149,654,315 M715T possibly damaging Het
Prss43 T A 9: 110,827,437 L64Q possibly damaging Het
Pyroxd2 C A 19: 42,738,332 G209V probably benign Het
Rab3b A G 4: 108,940,719 D198G possibly damaging Het
Rrbp1 A T 2: 143,947,895 probably benign Het
Smg6 T C 11: 74,935,103 probably null Het
Ssrp1 T C 2: 85,041,099 probably benign Het
Strip2 C A 6: 29,931,193 T381K probably benign Het
Svep1 A T 4: 58,116,622 L876Q possibly damaging Het
Tle4 T C 19: 14,452,533 I625V probably damaging Het
Tnfrsf23 T C 7: 143,679,999 T81A probably damaging Het
Ttc41 A G 10: 86,776,678 K1272E probably benign Het
Usp3 A G 9: 66,562,552 probably null Het
Vmn1r121 C T 7: 21,098,357 V53M probably benign Het
Vmn1r65 A T 7: 6,008,721 S171R probably benign Het
Vmn2r4 A T 3: 64,406,236 D441E probably benign Het
Vps13d A T 4: 145,075,048 H2353Q probably damaging Het
Vwa8 T C 14: 79,198,354 S1835P possibly damaging Het
Other mutations in Itga1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Itga1 APN 13 114992363 missense possibly damaging 0.80
IGL00498:Itga1 APN 13 115031193 missense probably benign 0.00
IGL00549:Itga1 APN 13 115049296 missense possibly damaging 0.92
IGL00587:Itga1 APN 13 115012249 missense probably damaging 1.00
IGL01021:Itga1 APN 13 114997000 missense probably benign 0.29
IGL01289:Itga1 APN 13 114986226 missense possibly damaging 0.79
IGL01791:Itga1 APN 13 114987661 missense probably benign 0.00
IGL01796:Itga1 APN 13 114985121 missense probably damaging 1.00
IGL02027:Itga1 APN 13 114990055 splice site probably null
IGL02330:Itga1 APN 13 115012204 missense probably damaging 1.00
IGL02480:Itga1 APN 13 114987648 missense probably damaging 1.00
IGL02943:Itga1 APN 13 115049296 missense possibly damaging 0.92
R0103:Itga1 UTSW 13 115016254 missense probably benign 0.40
R0103:Itga1 UTSW 13 115016254 missense probably benign 0.40
R0244:Itga1 UTSW 13 115006897 splice site probably benign
R0265:Itga1 UTSW 13 114992459 missense probably benign
R0302:Itga1 UTSW 13 115012318 splice site probably benign
R0320:Itga1 UTSW 13 114977594 splice site probably benign
R0389:Itga1 UTSW 13 114992460 missense probably benign 0.04
R0443:Itga1 UTSW 13 114992460 missense probably benign 0.04
R0574:Itga1 UTSW 13 114966561 missense probably damaging 1.00
R0646:Itga1 UTSW 13 114968299 missense probably benign
R0830:Itga1 UTSW 13 115007032 missense probably benign 0.08
R2162:Itga1 UTSW 13 115030910 missense probably benign 0.23
R2216:Itga1 UTSW 13 114997029 missense probably benign 0.00
R2403:Itga1 UTSW 13 114977614 missense probably benign 0.00
R3734:Itga1 UTSW 13 114977639 missense probably benign
R4171:Itga1 UTSW 13 115030886 nonsense probably null
R4402:Itga1 UTSW 13 115001566 missense probably benign 0.00
R4675:Itga1 UTSW 13 115001691 splice site probably null
R4684:Itga1 UTSW 13 115049370 missense probably damaging 1.00
R4795:Itga1 UTSW 13 115035385 missense probably damaging 1.00
R4796:Itga1 UTSW 13 115035385 missense probably damaging 1.00
R4845:Itga1 UTSW 13 114974172 nonsense probably null
R5147:Itga1 UTSW 13 114985142 missense possibly damaging 0.91
R5155:Itga1 UTSW 13 115035303 missense probably benign
R5234:Itga1 UTSW 13 115049303 nonsense probably null
R5344:Itga1 UTSW 13 115002309 missense possibly damaging 0.78
R5554:Itga1 UTSW 13 114992474 nonsense probably null
R5662:Itga1 UTSW 13 114986171 missense probably benign 0.03
R5945:Itga1 UTSW 13 114966590 missense probably benign 0.02
R6150:Itga1 UTSW 13 114968233 missense probably benign 0.01
R6241:Itga1 UTSW 13 114960137 splice site probably null
R6276:Itga1 UTSW 13 114980852 missense probably benign
R6369:Itga1 UTSW 13 114965660 missense probably damaging 1.00
R6511:Itga1 UTSW 13 114992501 missense probably damaging 0.98
R6663:Itga1 UTSW 13 114974105 missense probably benign 0.02
R6783:Itga1 UTSW 13 114996977 missense probably benign 0.22
R6931:Itga1 UTSW 13 115001563 missense probably benign 0.39
R7069:Itga1 UTSW 13 114968240 missense probably damaging 1.00
R7458:Itga1 UTSW 13 114986266 missense probably benign 0.00
R7588:Itga1 UTSW 13 114968249 missense possibly damaging 0.88
R7591:Itga1 UTSW 13 114982779 missense probably damaging 1.00
R7597:Itga1 UTSW 13 114974140 missense probably benign 0.28
R7615:Itga1 UTSW 13 114996922 missense probably null 0.99
R7756:Itga1 UTSW 13 114992460 missense probably benign 0.04
R7795:Itga1 UTSW 13 115012236 missense probably damaging 1.00
R7819:Itga1 UTSW 13 115049301 missense probably damaging 0.99
Z1177:Itga1 UTSW 13 114985071 critical splice donor site probably null
Posted On2013-12-09