Incidental Mutation 'R9267:Itga1'
| ID |
702637 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itga1
|
| Ensembl Gene |
ENSMUSG00000042284 |
| Gene Name |
integrin alpha 1 |
| Synonyms |
E130012M19Rik, CD49A, Vla1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.254)
|
| Stock # |
R9267 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
115094615-115238500 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 115185924 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 26
(C26F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077132
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061673]
[ENSMUST00000224495]
|
| AlphaFold |
Q3V3R4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061673
AA Change: C26F
PolyPhen 2
Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000077132
Gene: ENSMUSG00000042284
AA Change: C26F
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
probably benign
Transcript: ENSMUST00000224495
|
| Meta Mutation Damage Score |
0.2702 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (79/81) |
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
G |
T |
14: 118,869,657 (GRCm39) |
|
probably benign |
Het |
| Abcd2 |
T |
A |
15: 91,063,423 (GRCm39) |
T422S |
possibly damaging |
Het |
| Acsl3 |
T |
G |
1: 78,674,623 (GRCm39) |
I390S |
probably damaging |
Het |
| Adad1 |
T |
A |
3: 37,139,074 (GRCm39) |
|
probably benign |
Het |
| Adam3 |
A |
G |
8: 25,171,605 (GRCm39) |
V742A |
probably benign |
Het |
| Adgra3 |
A |
T |
5: 50,155,618 (GRCm39) |
I450K |
possibly damaging |
Het |
| Adgrb2 |
T |
C |
4: 129,885,901 (GRCm39) |
S14P |
possibly damaging |
Het |
| Arfgef3 |
T |
A |
10: 18,475,028 (GRCm39) |
I1553F |
probably damaging |
Het |
| Btbd16 |
C |
T |
7: 130,417,516 (GRCm39) |
R344C |
probably damaging |
Het |
| Ccdc27 |
A |
G |
4: 154,117,441 (GRCm39) |
L502P |
probably damaging |
Het |
| Ccdc50 |
T |
A |
16: 27,208,700 (GRCm39) |
L5Q |
|
Het |
| Cdh16 |
C |
T |
8: 105,341,834 (GRCm39) |
G777D |
probably damaging |
Het |
| Cntn2 |
C |
A |
1: 132,449,021 (GRCm39) |
V663L |
probably benign |
Het |
| Cpne4 |
T |
A |
9: 104,884,833 (GRCm39) |
V343E |
probably damaging |
Het |
| Dctpp1 |
A |
T |
7: 126,856,275 (GRCm39) |
I149N |
probably benign |
Het |
| Dlg5 |
T |
C |
14: 24,204,745 (GRCm39) |
N1266S |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,232,145 (GRCm39) |
D3246G |
probably benign |
Het |
| Efcab8 |
G |
C |
2: 153,646,861 (GRCm39) |
V397L |
unknown |
Het |
| Erbin |
T |
C |
13: 103,987,292 (GRCm39) |
T423A |
probably damaging |
Het |
| Erich5 |
C |
T |
15: 34,471,563 (GRCm39) |
P264L |
possibly damaging |
Het |
| Fam90a1a |
A |
G |
8: 22,453,091 (GRCm39) |
M149V |
probably benign |
Het |
| Fbxl18 |
C |
T |
5: 142,880,870 (GRCm39) |
G62R |
possibly damaging |
Het |
| Fech |
A |
G |
18: 64,591,267 (GRCm39) |
S386P |
possibly damaging |
Het |
| Fhl3 |
T |
A |
4: 124,601,498 (GRCm39) |
|
probably null |
Het |
| Fkbp5 |
A |
G |
17: 28,629,558 (GRCm39) |
S256P |
probably benign |
Het |
| Frem2 |
A |
G |
3: 53,564,504 (GRCm39) |
M1T |
probably null |
Het |
| Galnt5 |
T |
C |
2: 57,925,220 (GRCm39) |
F834L |
possibly damaging |
Het |
| Gm3618 |
G |
T |
14: 17,502,588 (GRCm39) |
T99N |
unknown |
Het |
| Gm9195 |
T |
A |
14: 72,700,546 (GRCm39) |
Q1127L |
possibly damaging |
Het |
| Gpsm1 |
A |
G |
2: 26,236,835 (GRCm39) |
D643G |
probably damaging |
Het |
| Grm4 |
A |
G |
17: 27,654,183 (GRCm39) |
V589A |
possibly damaging |
Het |
| Gskip |
T |
A |
12: 105,665,052 (GRCm39) |
F30L |
probably benign |
Het |
| Haus3 |
T |
A |
5: 34,311,452 (GRCm39) |
|
probably null |
Het |
| Heatr1 |
T |
C |
13: 12,421,489 (GRCm39) |
F463S |
probably damaging |
Het |
| Hmcn1 |
G |
A |
1: 150,473,740 (GRCm39) |
S4851F |
probably benign |
Het |
| Il16 |
A |
C |
7: 83,371,757 (GRCm39) |
F16L |
probably benign |
Het |
| Itga6 |
A |
G |
2: 71,668,756 (GRCm39) |
E565G |
probably benign |
Het |
| Itgb4 |
A |
G |
11: 115,870,465 (GRCm39) |
H98R |
probably benign |
Het |
| Kidins220 |
T |
A |
12: 25,038,558 (GRCm39) |
S37T |
probably benign |
Het |
| Lrrc37 |
A |
T |
11: 103,495,406 (GRCm39) |
D2804E |
unknown |
Het |
| Lrrk2 |
C |
T |
15: 91,584,629 (GRCm39) |
L349F |
probably damaging |
Het |
| Malrd1 |
T |
G |
2: 16,260,077 (GRCm39) |
I2099S |
unknown |
Het |
| Mapk8ip1 |
A |
G |
2: 92,216,714 (GRCm39) |
I492T |
possibly damaging |
Het |
| Mest |
T |
A |
6: 30,742,141 (GRCm39) |
D68E |
|
Het |
| Mthfd1l |
A |
G |
10: 3,934,154 (GRCm39) |
D162G |
probably benign |
Het |
| Nalcn |
A |
T |
14: 123,518,567 (GRCm39) |
D1657E |
probably benign |
Het |
| Nbeal2 |
C |
A |
9: 110,462,115 (GRCm39) |
V1475F |
probably damaging |
Het |
| Nf1 |
C |
A |
11: 79,331,716 (GRCm39) |
Q684K |
possibly damaging |
Het |
| Opn5 |
T |
A |
17: 42,903,793 (GRCm39) |
T181S |
probably damaging |
Het |
| Or10ag54 |
T |
C |
2: 87,099,326 (GRCm39) |
L67P |
possibly damaging |
Het |
| Or1j19 |
A |
T |
2: 36,676,530 (GRCm39) |
|
probably benign |
Het |
| Or7a38 |
A |
G |
10: 78,752,803 (GRCm39) |
N43S |
probably damaging |
Het |
| Or9s15 |
A |
T |
1: 92,524,994 (GRCm39) |
H251L |
probably damaging |
Het |
| Or9s15 |
A |
T |
1: 92,524,996 (GRCm39) |
M252L |
probably benign |
Het |
| Orc4 |
T |
A |
2: 48,827,534 (GRCm39) |
R20* |
probably null |
Het |
| Pik3ca |
T |
C |
3: 32,492,211 (GRCm39) |
Y270H |
probably damaging |
Het |
| Pkn2 |
T |
C |
3: 142,517,676 (GRCm39) |
E474G |
probably null |
Het |
| Pnma8b |
A |
T |
7: 16,679,159 (GRCm39) |
N48Y |
unknown |
Het |
| Pnpla2 |
A |
C |
7: 141,036,503 (GRCm39) |
|
probably benign |
Het |
| Polr1a |
G |
A |
6: 71,942,542 (GRCm39) |
M1127I |
probably benign |
Het |
| Ptpre |
A |
C |
7: 135,274,549 (GRCm39) |
D507A |
probably damaging |
Het |
| Rab3gap2 |
T |
C |
1: 184,983,331 (GRCm39) |
V490A |
probably damaging |
Het |
| Rab44 |
A |
T |
17: 29,354,338 (GRCm39) |
|
probably benign |
Het |
| Rchy1 |
G |
T |
5: 92,105,831 (GRCm39) |
T39N |
probably benign |
Het |
| Ripor1 |
A |
G |
8: 106,348,063 (GRCm39) |
D1146G |
unknown |
Het |
| Sh3yl1 |
A |
T |
12: 30,972,335 (GRCm39) |
I35F |
possibly damaging |
Het |
| Slc22a5 |
A |
G |
11: 53,764,619 (GRCm39) |
F276L |
probably benign |
Het |
| Slc8a3 |
T |
A |
12: 81,361,208 (GRCm39) |
D537V |
possibly damaging |
Het |
| Smc4 |
T |
A |
3: 68,941,786 (GRCm39) |
I1263N |
probably damaging |
Het |
| Snai2 |
A |
T |
16: 14,525,120 (GRCm39) |
T209S |
possibly damaging |
Het |
| Stam2 |
A |
T |
2: 52,604,903 (GRCm39) |
Y211N |
probably damaging |
Het |
| Stxbp1 |
A |
G |
2: 32,708,517 (GRCm39) |
S83P |
probably damaging |
Het |
| Susd4 |
T |
C |
1: 182,716,389 (GRCm39) |
F325L |
probably benign |
Het |
| Tmem245 |
A |
G |
4: 56,947,236 (GRCm39) |
V59A |
probably benign |
Het |
| Tnk2 |
A |
G |
16: 32,494,489 (GRCm39) |
D469G |
probably damaging |
Het |
| Tpx2 |
A |
G |
2: 152,732,517 (GRCm39) |
D597G |
probably damaging |
Het |
| Ube2w |
A |
T |
1: 16,612,011 (GRCm39) |
S170R |
|
Het |
| Vmn2r102 |
A |
T |
17: 19,896,928 (GRCm39) |
I92F |
probably damaging |
Het |
| Vmn2r11 |
T |
A |
5: 109,199,929 (GRCm39) |
E508V |
possibly damaging |
Het |
| Vmn2r30 |
T |
A |
7: 7,340,432 (GRCm39) |
I21F |
possibly damaging |
Het |
| Yipf2 |
G |
A |
9: 21,501,489 (GRCm39) |
T187M |
possibly damaging |
Het |
| Zbtb8a |
T |
A |
4: 129,248,267 (GRCm39) |
K335* |
probably null |
Het |
| Zfp609 |
T |
C |
9: 65,608,328 (GRCm39) |
D1184G |
possibly damaging |
Het |
|
| Other mutations in Itga1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
R0265:Itga1
|
UTSW |
13 |
115,128,995 (GRCm39) |
missense |
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 |
|
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'- TGTCAGCTTCCATCACCGAC -3'
(R):5'- CCAAACATCTTTGAAGCCATCTTG -3'
Sequencing Primer
(F):5'- TCTAGCTCAAATGAGTCATTCCG -3'
(R):5'- CTCAATGAGCAACAGCCTAACAGATC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation