Incidental Mutation 'R6369:Itga1'
ID 512866
Institutional Source Beutler Lab
Gene Symbol Itga1
Ensembl Gene ENSMUSG00000042284
Gene Name integrin alpha 1
Synonyms CD49A, Vla1, E130012M19Rik
MMRRC Submission 044519-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.358) question?
Stock # R6369 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 114953096-115101964 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 114965660 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 1145 (I1145V)
Ref Sequence ENSEMBL: ENSMUSP00000077132 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061673]
AlphaFold Q3V3R4
Predicted Effect probably damaging
Transcript: ENSMUST00000061673
AA Change: I1145V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000077132
Gene: ENSMUSG00000042284
AA Change: I1145V

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency 98% (54/55)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn C T 17: 13,835,343 (GRCm38) R571* probably null Het
Asb18 A T 1: 90,014,471 (GRCm38) I36N probably damaging Het
Ascc3 G A 10: 50,699,985 (GRCm38) G779S probably damaging Het
Atl2 T C 17: 79,854,555 (GRCm38) Q205R probably damaging Het
Axdnd1 A G 1: 156,392,745 (GRCm38) I235T probably damaging Het
Bri3bp A G 5: 125,454,701 (GRCm38) N237S probably damaging Het
Ccdc191 A G 16: 43,915,485 (GRCm38) N256S probably benign Het
Cchcr1 T C 17: 35,528,176 (GRCm38) I474T probably damaging Het
Cd209c T C 8: 3,944,984 (GRCm38) Y60C probably damaging Het
Cd300c C A 11: 114,957,555 (GRCm38) D171Y probably damaging Het
Crb1 C T 1: 139,237,462 (GRCm38) V975M probably damaging Het
Csmd1 C T 8: 17,535,004 (GRCm38) probably benign Het
Ctnna2 A G 6: 76,980,695 (GRCm38) S524P possibly damaging Het
Eno1 T C 4: 150,239,568 (GRCm38) probably null Het
Ero1l T C 14: 45,299,958 (GRCm38) I170M probably damaging Het
Fam186a A G 15: 99,947,331 (GRCm38) M344T unknown Het
Frem1 A T 4: 82,913,792 (GRCm38) probably null Het
Gjb5 G T 4: 127,355,930 (GRCm38) D140E possibly damaging Het
Gm11595 G A 11: 99,772,555 (GRCm38) R100C unknown Het
Hk2 G T 6: 82,736,753 (GRCm38) S449R probably damaging Het
Hs3st3a1 A T 11: 64,520,601 (GRCm38) I322F probably benign Het
Kcp A G 6: 29,484,694 (GRCm38) L1295S probably damaging Het
Macf1 T C 4: 123,410,562 (GRCm38) D49G possibly damaging Het
Mef2b T A 8: 70,165,559 (GRCm38) D96E probably benign Het
Megf10 A T 18: 57,261,187 (GRCm38) D461V probably benign Het
Myom1 T C 17: 71,101,076 (GRCm38) S1104P probably damaging Het
Nab1 A G 1: 52,490,222 (GRCm38) L172P probably damaging Het
Olfr123 T G 17: 37,795,496 (GRCm38) D17E probably benign Het
Pate1 A G 9: 35,687,028 (GRCm38) V18A probably benign Het
Pink1 T C 4: 138,320,734 (GRCm38) probably null Het
Pnpla1 T A 17: 28,878,481 (GRCm38) I207N probably damaging Het
Ppp1r12b T C 1: 134,886,542 (GRCm38) E341G possibly damaging Het
Ppp1r21 C A 17: 88,582,412 (GRCm38) probably null Het
Rad52 A G 6: 119,914,207 (GRCm38) E76G unknown Het
Rad54l A G 4: 116,111,189 (GRCm38) probably null Het
Rasgrf2 T C 13: 92,131,446 (GRCm38) M17V probably benign Het
Rbm42 A G 7: 30,641,313 (GRCm38) M411T unknown Het
Reln A G 5: 22,051,361 (GRCm38) I495T probably benign Het
Rnf224 A G 2: 25,235,942 (GRCm38) F133S probably damaging Het
Rrm1 C A 7: 102,446,702 (GRCm38) H87Q probably damaging Het
Sec14l2 T C 11: 4,103,962 (GRCm38) D235G possibly damaging Het
Serpinb3d G T 1: 107,080,753 (GRCm38) N127K probably benign Het
Skint7 A T 4: 111,980,293 (GRCm38) E89D probably benign Het
Slc22a5 T G 11: 53,891,370 (GRCm38) N57T probably damaging Het
Smarcd3 A T 5: 24,594,984 (GRCm38) F263I probably damaging Het
Sncaip A G 18: 52,868,604 (GRCm38) I66V probably damaging Het
Syngr1 A C 15: 80,115,590 (GRCm38) probably benign Het
Tbc1d2 A G 4: 46,614,420 (GRCm38) Y554H probably benign Het
Tmem198 T C 1: 75,479,743 (GRCm38) V44A probably benign Het
Trappc11 T C 8: 47,512,285 (GRCm38) probably null Het
Uox C T 3: 146,624,577 (GRCm38) R163* probably null Het
Vmn2r111 C T 17: 22,548,602 (GRCm38) C638Y probably damaging Het
Washc4 A G 10: 83,574,444 (GRCm38) Y632C probably damaging Het
Zfp212 T C 6: 47,930,897 (GRCm38) V270A probably benign Het
Zfp92 G A X: 73,421,968 (GRCm38) R189H possibly damaging Homo
Other mutations in Itga1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Itga1 APN 13 114,992,363 (GRCm38) missense possibly damaging 0.80
IGL00498:Itga1 APN 13 115,031,193 (GRCm38) missense probably benign 0.00
IGL00549:Itga1 APN 13 115,049,296 (GRCm38) missense possibly damaging 0.92
IGL00587:Itga1 APN 13 115,012,249 (GRCm38) missense probably damaging 1.00
IGL01021:Itga1 APN 13 114,997,000 (GRCm38) missense probably benign 0.29
IGL01289:Itga1 APN 13 114,986,226 (GRCm38) missense possibly damaging 0.79
IGL01636:Itga1 APN 13 115,006,948 (GRCm38) missense possibly damaging 0.73
IGL01791:Itga1 APN 13 114,987,661 (GRCm38) missense probably benign 0.00
IGL01796:Itga1 APN 13 114,985,121 (GRCm38) missense probably damaging 1.00
IGL02027:Itga1 APN 13 114,990,055 (GRCm38) splice site probably null
IGL02330:Itga1 APN 13 115,012,204 (GRCm38) missense probably damaging 1.00
IGL02480:Itga1 APN 13 114,987,648 (GRCm38) missense probably damaging 1.00
IGL02943:Itga1 APN 13 115,049,296 (GRCm38) missense possibly damaging 0.92
R0103:Itga1 UTSW 13 115,016,254 (GRCm38) missense probably benign 0.40
R0103:Itga1 UTSW 13 115,016,254 (GRCm38) missense probably benign 0.40
R0244:Itga1 UTSW 13 115,006,897 (GRCm38) splice site probably benign
R0265:Itga1 UTSW 13 114,992,459 (GRCm38) missense probably benign
R0302:Itga1 UTSW 13 115,012,318 (GRCm38) splice site probably benign
R0320:Itga1 UTSW 13 114,977,594 (GRCm38) splice site probably benign
R0389:Itga1 UTSW 13 114,992,460 (GRCm38) missense probably benign 0.04
R0443:Itga1 UTSW 13 114,992,460 (GRCm38) missense probably benign 0.04
R0574:Itga1 UTSW 13 114,966,561 (GRCm38) missense probably damaging 1.00
R0646:Itga1 UTSW 13 114,968,299 (GRCm38) missense probably benign
R0830:Itga1 UTSW 13 115,007,032 (GRCm38) missense probably benign 0.08
R2162:Itga1 UTSW 13 115,030,910 (GRCm38) missense probably benign 0.23
R2216:Itga1 UTSW 13 114,997,029 (GRCm38) missense probably benign 0.00
R2403:Itga1 UTSW 13 114,977,614 (GRCm38) missense probably benign 0.00
R3734:Itga1 UTSW 13 114,977,639 (GRCm38) missense probably benign
R4171:Itga1 UTSW 13 115,030,886 (GRCm38) nonsense probably null
R4402:Itga1 UTSW 13 115,001,566 (GRCm38) missense probably benign 0.00
R4675:Itga1 UTSW 13 115,001,691 (GRCm38) splice site probably null
R4684:Itga1 UTSW 13 115,049,370 (GRCm38) missense probably damaging 1.00
R4795:Itga1 UTSW 13 115,035,385 (GRCm38) missense probably damaging 1.00
R4796:Itga1 UTSW 13 115,035,385 (GRCm38) missense probably damaging 1.00
R4845:Itga1 UTSW 13 114,974,172 (GRCm38) nonsense probably null
R5147:Itga1 UTSW 13 114,985,142 (GRCm38) missense possibly damaging 0.91
R5155:Itga1 UTSW 13 115,035,303 (GRCm38) missense probably benign
R5234:Itga1 UTSW 13 115,049,303 (GRCm38) nonsense probably null
R5344:Itga1 UTSW 13 115,002,309 (GRCm38) missense possibly damaging 0.78
R5554:Itga1 UTSW 13 114,992,474 (GRCm38) nonsense probably null
R5662:Itga1 UTSW 13 114,986,171 (GRCm38) missense probably benign 0.03
R5945:Itga1 UTSW 13 114,966,590 (GRCm38) missense probably benign 0.02
R6150:Itga1 UTSW 13 114,968,233 (GRCm38) missense probably benign 0.01
R6241:Itga1 UTSW 13 114,960,137 (GRCm38) splice site probably null
R6276:Itga1 UTSW 13 114,980,852 (GRCm38) missense probably benign
R6511:Itga1 UTSW 13 114,992,501 (GRCm38) missense probably damaging 0.98
R6663:Itga1 UTSW 13 114,974,105 (GRCm38) missense probably benign 0.02
R6783:Itga1 UTSW 13 114,996,977 (GRCm38) missense probably benign 0.22
R6931:Itga1 UTSW 13 115,001,563 (GRCm38) missense probably benign 0.39
R7069:Itga1 UTSW 13 114,968,240 (GRCm38) missense probably damaging 1.00
R7458:Itga1 UTSW 13 114,986,266 (GRCm38) missense probably benign 0.00
R7588:Itga1 UTSW 13 114,968,249 (GRCm38) missense possibly damaging 0.88
R7591:Itga1 UTSW 13 114,982,779 (GRCm38) missense probably damaging 1.00
R7597:Itga1 UTSW 13 114,974,140 (GRCm38) missense probably benign 0.28
R7615:Itga1 UTSW 13 114,996,922 (GRCm38) missense probably null 0.99
R7756:Itga1 UTSW 13 114,992,460 (GRCm38) missense probably benign 0.04
R7795:Itga1 UTSW 13 115,012,236 (GRCm38) missense probably damaging 1.00
R7819:Itga1 UTSW 13 115,049,301 (GRCm38) missense probably damaging 0.99
R8193:Itga1 UTSW 13 114,968,455 (GRCm38) critical splice donor site probably null
R8313:Itga1 UTSW 13 114,966,584 (GRCm38) missense probably benign 0.06
R8419:Itga1 UTSW 13 115,007,068 (GRCm38) missense probably damaging 1.00
R8925:Itga1 UTSW 13 114,968,519 (GRCm38) missense probably benign 0.01
R8927:Itga1 UTSW 13 114,968,519 (GRCm38) missense probably benign 0.01
R8951:Itga1 UTSW 13 114,970,491 (GRCm38) nonsense probably null
R9099:Itga1 UTSW 13 115,049,320 (GRCm38) missense probably damaging 1.00
R9200:Itga1 UTSW 13 114,968,461 (GRCm38) missense possibly damaging 0.80
R9221:Itga1 UTSW 13 115,030,159 (GRCm38) nonsense probably null
R9249:Itga1 UTSW 13 115,049,298 (GRCm38) missense probably damaging 1.00
R9267:Itga1 UTSW 13 115,049,388 (GRCm38) missense possibly damaging 0.50
R9376:Itga1 UTSW 13 114,970,576 (GRCm38) missense probably benign 0.07
R9481:Itga1 UTSW 13 115,016,217 (GRCm38) missense probably benign 0.34
R9789:Itga1 UTSW 13 115,035,284 (GRCm38) nonsense probably null
Z1177:Itga1 UTSW 13 114,985,071 (GRCm38) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- CTCTTCTCACATGAAAGCTTGCAC -3'
(R):5'- AAACTCTGTTTCGAACTGCTCTAC -3'

Sequencing Primer
(F):5'- GCTTGCACTTTATTATGTACGAGAGC -3'
(R):5'- TGAAAGGCATTCTCAAACGTAAAC -3'
Posted On 2018-04-27