Incidental Mutation 'R0265:Itga1'
ID 34879
Institutional Source Beutler Lab
Gene Symbol Itga1
Ensembl Gene ENSMUSG00000042284
Gene Name integrin alpha 1
Synonyms E130012M19Rik, CD49A, Vla1
MMRRC Submission 038491-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.254) question?
Stock # R0265 (G1)
Quality Score 186
Status Validated
Chromosome 13
Chromosomal Location 115094615-115238500 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 115128995 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 554 (D554E)
Ref Sequence ENSEMBL: ENSMUSP00000077132 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061673]
AlphaFold Q3V3R4
Predicted Effect probably benign
Transcript: ENSMUST00000061673
AA Change: D554E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000077132
Gene: ENSMUSG00000042284
AA Change: D554E

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.5%
  • 3x: 97.4%
  • 10x: 95.6%
  • 20x: 92.0%
Validation Efficiency 99% (83/84)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,822,850 (GRCm39) I321V probably benign Het
Adcy7 A G 8: 89,051,391 (GRCm39) D837G probably damaging Het
Aldh1a1 T A 19: 20,617,440 (GRCm39) Y457* probably null Het
Alox5 T C 6: 116,397,323 (GRCm39) Y287C probably benign Het
Ano8 T C 8: 71,933,168 (GRCm39) probably benign Het
Ap3b1 A G 13: 94,630,189 (GRCm39) K815E unknown Het
Atp11a A T 8: 12,906,930 (GRCm39) probably benign Het
Atp6v0a1 A T 11: 100,939,341 (GRCm39) D702V possibly damaging Het
Cacna1b T A 2: 24,651,856 (GRCm39) N108Y probably damaging Het
Ccdc57 G C 11: 120,812,637 (GRCm39) A39G probably benign Het
Cdhr1 A T 14: 36,803,333 (GRCm39) V581D probably benign Het
Cfap20dc T G 14: 8,431,667 (GRCm38) Y655S probably damaging Het
Cyp2b23 A G 7: 26,372,304 (GRCm39) probably benign Het
D430041D05Rik G C 2: 103,998,295 (GRCm39) P1836R probably damaging Het
Ddit4l C T 3: 137,330,048 (GRCm39) probably benign Het
Dnah8 A T 17: 30,909,245 (GRCm39) I1024F probably benign Het
Dync2i1 T C 12: 116,221,026 (GRCm39) probably benign Het
Edc3 T A 9: 57,634,621 (GRCm39) F213I probably damaging Het
Edrf1 G A 7: 133,258,774 (GRCm39) D717N probably damaging Het
Efna5 G A 17: 62,958,068 (GRCm39) P63S probably damaging Het
Elapor2 T C 5: 9,484,681 (GRCm39) L486P probably damaging Het
Entpd3 A G 9: 120,387,547 (GRCm39) Y248C probably damaging Het
Flcn G A 11: 59,686,635 (GRCm39) Q373* probably null Het
Fry T C 5: 150,358,241 (GRCm39) V1908A probably damaging Het
Gabrg3 A T 7: 57,031,365 (GRCm39) Y58* probably null Het
Gabrp A T 11: 33,502,614 (GRCm39) Y417N probably damaging Het
Golga2 C A 2: 32,194,964 (GRCm39) probably null Het
Grip2 C A 6: 91,750,773 (GRCm39) probably null Het
Gsx2 A G 5: 75,237,729 (GRCm39) Y227C probably damaging Het
H2ac1 T C 13: 24,118,632 (GRCm39) V63A probably benign Het
Hif3a T C 7: 16,769,793 (GRCm39) *665W probably null Het
Hsd3b1 C A 3: 98,760,089 (GRCm39) V301L probably damaging Het
Ifitm5 T C 7: 140,529,921 (GRCm39) probably benign Het
Inpp4a A T 1: 37,418,067 (GRCm39) D498V probably damaging Het
Itk G A 11: 46,280,285 (GRCm39) probably benign Het
Kdm3b T A 18: 34,928,716 (GRCm39) probably benign Het
Klhl6 A G 16: 19,766,984 (GRCm39) V470A probably benign Het
Lamb3 T A 1: 193,002,839 (GRCm39) W95R probably damaging Het
Lbhd2 T A 12: 111,376,676 (GRCm39) I41N probably damaging Het
Lrp4 A T 2: 91,321,015 (GRCm39) S1014C probably damaging Het
Ltbp2 C T 12: 84,832,743 (GRCm39) probably null Het
Map3k19 A G 1: 127,749,919 (GRCm39) I1144T possibly damaging Het
Mfsd10 T C 5: 34,792,507 (GRCm39) probably benign Het
Mocos A G 18: 24,799,333 (GRCm39) D189G probably benign Het
Mvb12a T A 8: 71,999,654 (GRCm39) F224L probably damaging Het
Myo15a A T 11: 60,405,723 (GRCm39) probably null Het
Nos2 A T 11: 78,828,428 (GRCm39) H249L probably damaging Het
Notum A G 11: 120,549,160 (GRCm39) M184T probably benign Het
Nvl C A 1: 180,962,395 (GRCm39) D192Y probably damaging Het
Or10j3 A G 1: 173,031,484 (GRCm39) K187R probably benign Het
Or4f57 T C 2: 111,790,839 (GRCm39) Y193C probably damaging Het
Or5ac22 A T 16: 59,135,434 (GRCm39) F112Y probably damaging Het
Or5m12 T A 2: 85,734,591 (GRCm39) N269I probably benign Het
Or8k27 C A 2: 86,276,303 (GRCm39) V8L probably benign Het
Osgin1 A G 8: 120,172,396 (GRCm39) I397V possibly damaging Het
Otulin A G 15: 27,616,510 (GRCm39) V123A probably damaging Het
P4ha1 A G 10: 59,184,081 (GRCm39) Y181C probably damaging Het
Pcdhgc5 A T 18: 37,954,403 (GRCm39) D559V probably damaging Het
Phf2 T C 13: 48,982,270 (GRCm39) N151S unknown Het
Plxnc1 C A 10: 94,648,991 (GRCm39) G1263C probably benign Het
Rad51ap1 A G 6: 126,901,160 (GRCm39) *338Q probably null Het
Raver1 A G 9: 20,986,955 (GRCm39) S676P probably benign Het
Rfx8 T C 1: 39,727,737 (GRCm39) E196G possibly damaging Het
Rreb1 A T 13: 38,100,131 (GRCm39) K187* probably null Het
Rxfp1 T C 3: 79,574,961 (GRCm39) T217A probably benign Het
Rxra T C 2: 27,642,442 (GRCm39) L305P probably damaging Het
Sardh T C 2: 27,117,078 (GRCm39) probably benign Het
Skor2 A T 18: 76,964,293 (GRCm39) E952D probably damaging Het
Slc22a29 A T 19: 8,147,334 (GRCm39) S343T probably benign Het
Sorbs2 T C 8: 46,238,374 (GRCm39) probably benign Het
Supt7l C T 5: 31,673,262 (GRCm39) V329I probably benign Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Tac1 T C 6: 7,559,165 (GRCm39) probably benign Het
Tcn2 A T 11: 3,872,044 (GRCm39) V361D probably damaging Het
Tm2d3 G A 7: 65,347,582 (GRCm39) A170T possibly damaging Het
Tnks G A 8: 35,307,124 (GRCm39) R1142* probably null Het
Ttll7 C A 3: 146,649,915 (GRCm39) Y648* probably null Het
Umod G T 7: 119,065,296 (GRCm39) Q578K probably benign Het
Upf2 G A 2: 6,032,015 (GRCm39) probably benign Het
Vmn2r92 C T 17: 18,388,219 (GRCm39) A408V probably damaging Het
Washc5 A G 15: 59,210,809 (GRCm39) I1013T probably benign Het
Zfp704 C A 3: 9,630,217 (GRCm39) R48L probably damaging Het
Other mutations in Itga1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Itga1 APN 13 115,128,899 (GRCm39) missense possibly damaging 0.80
IGL00498:Itga1 APN 13 115,167,729 (GRCm39) missense probably benign 0.00
IGL00549:Itga1 APN 13 115,185,832 (GRCm39) missense possibly damaging 0.92
IGL00587:Itga1 APN 13 115,148,785 (GRCm39) missense probably damaging 1.00
IGL01021:Itga1 APN 13 115,133,536 (GRCm39) missense probably benign 0.29
IGL01289:Itga1 APN 13 115,122,762 (GRCm39) missense possibly damaging 0.79
IGL01636:Itga1 APN 13 115,143,484 (GRCm39) missense possibly damaging 0.73
IGL01791:Itga1 APN 13 115,124,197 (GRCm39) missense probably benign 0.00
IGL01796:Itga1 APN 13 115,121,657 (GRCm39) missense probably damaging 1.00
IGL02027:Itga1 APN 13 115,126,591 (GRCm39) splice site probably null
IGL02330:Itga1 APN 13 115,148,740 (GRCm39) missense probably damaging 1.00
IGL02480:Itga1 APN 13 115,124,184 (GRCm39) missense probably damaging 1.00
IGL02943:Itga1 APN 13 115,185,832 (GRCm39) missense possibly damaging 0.92
R0103:Itga1 UTSW 13 115,152,790 (GRCm39) missense probably benign 0.40
R0103:Itga1 UTSW 13 115,152,790 (GRCm39) missense probably benign 0.40
R0244:Itga1 UTSW 13 115,143,433 (GRCm39) splice site probably benign
R0302:Itga1 UTSW 13 115,148,854 (GRCm39) splice site probably benign
R0320:Itga1 UTSW 13 115,114,130 (GRCm39) splice site probably benign
R0389:Itga1 UTSW 13 115,128,996 (GRCm39) missense probably benign 0.04
R0443:Itga1 UTSW 13 115,128,996 (GRCm39) missense probably benign 0.04
R0574:Itga1 UTSW 13 115,103,097 (GRCm39) missense probably damaging 1.00
R0646:Itga1 UTSW 13 115,104,835 (GRCm39) missense probably benign
R0830:Itga1 UTSW 13 115,143,568 (GRCm39) missense probably benign 0.08
R2162:Itga1 UTSW 13 115,167,446 (GRCm39) missense probably benign 0.23
R2216:Itga1 UTSW 13 115,133,565 (GRCm39) missense probably benign 0.00
R2403:Itga1 UTSW 13 115,114,150 (GRCm39) missense probably benign 0.00
R3734:Itga1 UTSW 13 115,114,175 (GRCm39) missense probably benign
R4171:Itga1 UTSW 13 115,167,422 (GRCm39) nonsense probably null
R4402:Itga1 UTSW 13 115,138,102 (GRCm39) missense probably benign 0.00
R4675:Itga1 UTSW 13 115,138,227 (GRCm39) splice site probably null
R4684:Itga1 UTSW 13 115,185,906 (GRCm39) missense probably damaging 1.00
R4795:Itga1 UTSW 13 115,171,921 (GRCm39) missense probably damaging 1.00
R4796:Itga1 UTSW 13 115,171,921 (GRCm39) missense probably damaging 1.00
R4845:Itga1 UTSW 13 115,110,708 (GRCm39) nonsense probably null
R5147:Itga1 UTSW 13 115,121,678 (GRCm39) missense possibly damaging 0.91
R5155:Itga1 UTSW 13 115,171,839 (GRCm39) missense probably benign
R5234:Itga1 UTSW 13 115,185,839 (GRCm39) nonsense probably null
R5344:Itga1 UTSW 13 115,138,845 (GRCm39) missense possibly damaging 0.78
R5554:Itga1 UTSW 13 115,129,010 (GRCm39) nonsense probably null
R5662:Itga1 UTSW 13 115,122,707 (GRCm39) missense probably benign 0.03
R5945:Itga1 UTSW 13 115,103,126 (GRCm39) missense probably benign 0.02
R6150:Itga1 UTSW 13 115,104,769 (GRCm39) missense probably benign 0.01
R6241:Itga1 UTSW 13 115,096,673 (GRCm39) splice site probably null
R6276:Itga1 UTSW 13 115,117,388 (GRCm39) missense probably benign
R6369:Itga1 UTSW 13 115,102,196 (GRCm39) missense probably damaging 1.00
R6511:Itga1 UTSW 13 115,129,037 (GRCm39) missense probably damaging 0.98
R6663:Itga1 UTSW 13 115,110,641 (GRCm39) missense probably benign 0.02
R6783:Itga1 UTSW 13 115,133,513 (GRCm39) missense probably benign 0.22
R6931:Itga1 UTSW 13 115,138,099 (GRCm39) missense probably benign 0.39
R7069:Itga1 UTSW 13 115,104,776 (GRCm39) missense probably damaging 1.00
R7458:Itga1 UTSW 13 115,122,802 (GRCm39) missense probably benign 0.00
R7588:Itga1 UTSW 13 115,104,785 (GRCm39) missense possibly damaging 0.88
R7591:Itga1 UTSW 13 115,119,315 (GRCm39) missense probably damaging 1.00
R7597:Itga1 UTSW 13 115,110,676 (GRCm39) missense probably benign 0.28
R7615:Itga1 UTSW 13 115,133,458 (GRCm39) missense probably null 0.99
R7756:Itga1 UTSW 13 115,128,996 (GRCm39) missense probably benign 0.04
R7795:Itga1 UTSW 13 115,148,772 (GRCm39) missense probably damaging 1.00
R7819:Itga1 UTSW 13 115,185,837 (GRCm39) missense probably damaging 0.99
R8193:Itga1 UTSW 13 115,104,991 (GRCm39) critical splice donor site probably null
R8313:Itga1 UTSW 13 115,103,120 (GRCm39) missense probably benign 0.06
R8419:Itga1 UTSW 13 115,143,604 (GRCm39) missense probably damaging 1.00
R8925:Itga1 UTSW 13 115,105,055 (GRCm39) missense probably benign 0.01
R8927:Itga1 UTSW 13 115,105,055 (GRCm39) missense probably benign 0.01
R8951:Itga1 UTSW 13 115,107,027 (GRCm39) nonsense probably null
R9099:Itga1 UTSW 13 115,185,856 (GRCm39) missense probably damaging 1.00
R9200:Itga1 UTSW 13 115,104,997 (GRCm39) missense possibly damaging 0.80
R9221:Itga1 UTSW 13 115,166,695 (GRCm39) nonsense probably null
R9249:Itga1 UTSW 13 115,185,834 (GRCm39) missense probably damaging 1.00
R9267:Itga1 UTSW 13 115,185,924 (GRCm39) missense possibly damaging 0.50
R9376:Itga1 UTSW 13 115,107,112 (GRCm39) missense probably benign 0.07
R9481:Itga1 UTSW 13 115,152,753 (GRCm39) missense probably benign 0.34
R9789:Itga1 UTSW 13 115,171,820 (GRCm39) nonsense probably null
Z1177:Itga1 UTSW 13 115,121,607 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TTTAAAGAGCAAGACAGGTGAGCCC -3'
(R):5'- ACTTCATAAGGTTGGCGAGACGTG -3'

Sequencing Primer
(F):5'- GGCCCTCAAGAAATCTTGGTG -3'
(R):5'- TGCACTTAAAAAACAAACCTACGC -3'
Posted On 2013-05-09