Incidental Mutation 'R8925:Itga1'
ID |
680208 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Itga1
|
Ensembl Gene |
ENSMUSG00000042284 |
Gene Name |
integrin alpha 1 |
Synonyms |
E130012M19Rik, CD49A, Vla1 |
MMRRC Submission |
068708-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.254)
|
Stock # |
R8925 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
115094615-115238500 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 115105055 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 1040
(I1040V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000077132
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061673]
|
AlphaFold |
Q3V3R4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000061673
AA Change: I1040V
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000077132 Gene: ENSMUSG00000042284 AA Change: I1040V
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 |
|
Meta Mutation Damage Score |
0.1325 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
95% (54/57) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
G |
A |
9: 57,165,805 (GRCm39) |
R190* |
probably null |
Het |
Aldh7a1 |
A |
T |
18: 56,660,060 (GRCm39) |
S529T |
probably benign |
Het |
Carmil2 |
T |
G |
8: 106,415,130 (GRCm39) |
Y214* |
probably null |
Het |
Ccdc136 |
A |
G |
6: 29,406,109 (GRCm39) |
I152V |
probably damaging |
Het |
Ccdc88c |
T |
C |
12: 100,932,676 (GRCm39) |
D285G |
possibly damaging |
Het |
Clec4a3 |
T |
A |
6: 122,946,328 (GRCm39) |
F191I |
probably damaging |
Het |
Dlg5 |
A |
T |
14: 24,206,547 (GRCm39) |
S1222T |
|
Het |
Dnaaf9 |
T |
A |
2: 130,579,300 (GRCm39) |
R777* |
probably null |
Het |
Dnah14 |
T |
G |
1: 181,508,321 (GRCm39) |
L1833W |
probably damaging |
Het |
Dsg2 |
T |
C |
18: 20,725,535 (GRCm39) |
W549R |
probably damaging |
Het |
Ezh2 |
A |
T |
6: 47,510,713 (GRCm39) |
V632E |
possibly damaging |
Het |
Fam83a |
G |
A |
15: 57,873,313 (GRCm39) |
V381M |
probably benign |
Het |
Flacc1 |
A |
T |
1: 58,706,882 (GRCm39) |
|
probably null |
Het |
Fmo2 |
T |
C |
1: 162,704,398 (GRCm39) |
T503A |
probably benign |
Het |
Foxo1 |
T |
C |
3: 52,252,703 (GRCm39) |
F289L |
probably damaging |
Het |
Gckr |
A |
G |
5: 31,456,903 (GRCm39) |
E96G |
probably damaging |
Het |
Gm18596 |
G |
A |
10: 77,578,162 (GRCm39) |
A104V |
unknown |
Het |
Gm21680 |
A |
T |
5: 26,176,347 (GRCm39) |
N83K |
probably damaging |
Het |
Gnb5 |
T |
C |
9: 75,252,236 (GRCm39) |
V393A |
possibly damaging |
Het |
Grin2b |
T |
G |
6: 135,749,339 (GRCm39) |
Q621P |
probably damaging |
Het |
Gtsf2 |
T |
C |
15: 103,352,783 (GRCm39) |
I79V |
probably benign |
Het |
Kif2b |
C |
T |
11: 91,468,023 (GRCm39) |
E87K |
probably benign |
Het |
Klk1b8 |
G |
A |
7: 43,604,206 (GRCm39) |
G225S |
probably damaging |
Het |
L3mbtl3 |
A |
T |
10: 26,220,084 (GRCm39) |
C94S |
unknown |
Het |
Man2c1 |
T |
G |
9: 57,048,456 (GRCm39) |
Y872* |
probably null |
Het |
Mical3 |
T |
A |
6: 120,984,325 (GRCm39) |
M832L |
probably benign |
Het |
Mrc2 |
A |
G |
11: 105,216,334 (GRCm39) |
D41G |
probably benign |
Het |
Nedd1 |
T |
A |
10: 92,558,258 (GRCm39) |
|
probably benign |
Het |
Nefh |
TTTGGCCTCAGCTGGTGACTTGGGCTCAGCTGGAGACTTGGCCTCACCTGGTGACTTG |
TTTGGCCTCACCTGGTGACTTG |
11: 4,890,530 (GRCm39) |
|
probably benign |
Het |
Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
Notch3 |
C |
T |
17: 32,372,792 (GRCm39) |
R593Q |
probably benign |
Het |
Nxpe3 |
T |
G |
16: 55,669,997 (GRCm39) |
E369D |
possibly damaging |
Het |
Obscn |
T |
A |
11: 58,977,695 (GRCm39) |
T1802S |
possibly damaging |
Het |
Or1e33 |
A |
T |
11: 73,738,406 (GRCm39) |
F182I |
probably benign |
Het |
Or2a7 |
T |
C |
6: 43,151,669 (GRCm39) |
F250L |
probably benign |
Het |
Or4k51 |
A |
T |
2: 111,585,107 (GRCm39) |
H171L |
probably benign |
Het |
Or9s14 |
A |
G |
1: 92,536,438 (GRCm39) |
N293S |
probably damaging |
Het |
Oscar |
A |
C |
7: 3,614,747 (GRCm39) |
V75G |
probably benign |
Het |
Pcdhb17 |
G |
A |
18: 37,620,372 (GRCm39) |
A721T |
probably benign |
Het |
Pcnx2 |
T |
C |
8: 126,614,659 (GRCm39) |
Y264C |
probably benign |
Het |
Pear1 |
G |
T |
3: 87,661,890 (GRCm39) |
A495D |
probably damaging |
Het |
Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Plekhf1 |
C |
A |
7: 37,920,998 (GRCm39) |
R190L |
probably damaging |
Het |
Plppr5 |
T |
C |
3: 117,369,532 (GRCm39) |
V63A |
probably benign |
Het |
Pyroxd1 |
T |
A |
6: 142,300,437 (GRCm39) |
F189Y |
probably damaging |
Het |
Rab13 |
C |
T |
3: 90,128,120 (GRCm39) |
|
probably benign |
Het |
Rptor |
C |
T |
11: 119,782,036 (GRCm39) |
T1121I |
probably benign |
Het |
Scgb2b7 |
T |
C |
7: 31,404,602 (GRCm39) |
S33G |
probably benign |
Het |
Slc25a36 |
A |
G |
9: 96,982,126 (GRCm39) |
|
probably null |
Het |
Smc1b |
A |
T |
15: 84,991,273 (GRCm39) |
|
probably null |
Het |
Smtn |
T |
A |
11: 3,479,477 (GRCm39) |
H530L |
possibly damaging |
Het |
Srrt |
C |
T |
5: 137,297,070 (GRCm39) |
C411Y |
probably benign |
Het |
Stag1 |
C |
A |
9: 100,587,298 (GRCm39) |
P7Q |
possibly damaging |
Het |
Tarm1 |
G |
A |
7: 3,537,719 (GRCm39) |
T248I |
possibly damaging |
Het |
Tektl1 |
T |
C |
10: 78,588,258 (GRCm39) |
Y184C |
probably damaging |
Het |
Trim6 |
C |
T |
7: 103,881,655 (GRCm39) |
A328V |
probably benign |
Het |
Vmn1r189 |
T |
C |
13: 22,286,811 (GRCm39) |
I9V |
probably benign |
Het |
Vmn2r93 |
A |
G |
17: 18,546,500 (GRCm39) |
T791A |
probably damaging |
Het |
Vsig10l |
A |
G |
7: 43,116,020 (GRCm39) |
T454A |
probably benign |
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 |
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'- AGTGCTTGCGGTCTGATCAC -3'
(R):5'- GGAAGATGCCTTACTGCCTCTC -3'
Sequencing Primer
(F):5'- TTGCGGTCTGATCACAGGCTC -3'
(R):5'- GTGCTGCATACTCACAAATAGACTG -3'
|
Posted On |
2021-08-31 |