Incidental Mutation 'IGL01791:Itga1'
ID155210
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: 0.446) question?
Stock #IGL01791
Quality Score
Status
Chromosome13
Chromosomal Location114953096-115101964 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 114987661 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 698 (N698K)
Ref Sequence ENSEMBL: ENSMUSP00000077132 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061673]
Predicted Effect probably benign
Transcript: ENSMUST00000061673
AA Change: N698K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000077132
Gene: ENSMUSG00000042284
AA Change: N698K

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: 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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930572O03Rik C A 5: 15,656,886 probably benign Het
Arhgap32 A G 9: 32,247,190 I174V probably damaging Het
Asb15 T A 6: 24,567,212 C511S probably damaging Het
Atr C T 9: 95,921,781 A1896V probably benign Het
B3gnt4 C T 5: 123,511,099 R176C probably damaging Het
Brf1 T C 12: 112,962,475 D557G probably benign Het
Catsperg2 T A 7: 29,704,665 probably null Het
Ccdc144b T C 3: 36,035,267 probably benign Het
Cdip1 A G 16: 4,768,865 I122T probably damaging Het
Ctrl C T 8: 105,932,567 E147K probably benign Het
Dennd2c T C 3: 103,166,425 V829A probably benign Het
Dync1h1 T A 12: 110,658,930 L3874Q probably damaging Het
Gm10521 T C 1: 171,896,397 S92P unknown Het
Gzf1 G A 2: 148,684,061 A151T probably benign Het
Hddc2 A G 10: 31,326,026 Y123C probably damaging Het
Hyal4 T C 6: 24,763,895 probably benign Het
Ighv16-1 T C 12: 114,068,969 N71S probably benign Het
Ing2 A T 8: 47,669,035 S159R probably benign Het
Lemd2 A T 17: 27,190,728 I483N probably damaging Het
Lyst T C 13: 13,635,302 L519P probably damaging Het
Mapk10 T C 5: 102,996,648 N101S probably damaging Het
Nfatc4 A T 14: 55,832,238 E164V probably null Het
Nfkb2 T G 19: 46,309,839 probably benign Het
Nox3 A G 17: 3,682,943 V231A possibly damaging Het
Nup160 G A 2: 90,703,853 G674D probably damaging Het
Olfr364-ps1 A T 2: 37,146,536 D108V probably damaging Het
Olfr657 C T 7: 104,636,475 T267I possibly damaging Het
Otoa T G 7: 121,155,849 V998G probably benign Het
Pcnx3 A T 19: 5,673,267 M1300K probably benign Het
Pde4b A G 4: 102,590,930 probably benign Het
Rfc1 T A 5: 65,263,145 K1104I probably benign Het
Serpina1f G T 12: 103,693,502 Q174K probably damaging Het
Serping1 T C 2: 84,773,377 N107D possibly damaging Het
Surf6 A G 2: 26,899,747 S94P probably benign Het
Tctex1d4 T A 4: 117,128,597 S206T probably damaging Het
Tigd4 T A 3: 84,594,745 I323N probably damaging Het
Vmn2r28 T C 7: 5,488,162 D362G probably benign Het
Wdfy3 A G 5: 101,937,412 S739P probably 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
IGL01636:Itga1 APN 13 115006948 missense possibly damaging 0.73
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 On2014-02-04