Incidental Mutation 'R7458:Itga1'
| ID |
578267 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itga1
|
| Ensembl Gene |
ENSMUSG00000042284 |
| Gene Name |
integrin alpha 1 |
| Synonyms |
E130012M19Rik, CD49A, Vla1 |
| MMRRC Submission |
045532-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.254)
|
| Stock # |
R7458 (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 115122802 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 718
(D718G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077132
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061673]
|
| AlphaFold |
Q3V3R4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061673
AA Change: D718G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000077132
Gene: ENSMUSG00000042284
AA Change: D718G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (48/48) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
C |
T |
5: 113,338,510 (GRCm39) |
V501M |
probably benign |
Het |
| Abca13 |
T |
C |
11: 9,240,777 (GRCm39) |
F880S |
possibly damaging |
Het |
| AI182371 |
T |
A |
2: 34,976,516 (GRCm39) |
R206S |
possibly damaging |
Het |
| Akr1a1 |
A |
T |
4: 116,495,014 (GRCm39) |
M286K |
possibly damaging |
Het |
| Aldh8a1 |
A |
G |
10: 21,271,492 (GRCm39) |
E406G |
possibly damaging |
Het |
| Ambra1 |
T |
A |
2: 91,748,029 (GRCm39) |
V1255D |
probably benign |
Het |
| Apol7e |
C |
T |
15: 77,598,604 (GRCm39) |
T23I |
probably benign |
Het |
| Armh4 |
T |
C |
14: 49,920,196 (GRCm39) |
Y711C |
probably damaging |
Het |
| Boc |
T |
C |
16: 44,307,119 (GRCm39) |
E1034G |
|
Het |
| Bricd5 |
T |
C |
17: 24,693,476 (GRCm39) |
I39T |
probably damaging |
Het |
| Ccne1 |
T |
C |
7: 37,800,096 (GRCm39) |
T163A |
probably damaging |
Het |
| Cct7 |
T |
C |
6: 85,436,978 (GRCm39) |
V72A |
probably benign |
Het |
| Cdh3 |
A |
G |
8: 107,263,779 (GRCm39) |
D199G |
probably damaging |
Het |
| Clip1 |
T |
G |
5: 123,778,609 (GRCm39) |
E438A |
probably damaging |
Het |
| Col4a4 |
T |
C |
1: 82,476,669 (GRCm39) |
I553M |
unknown |
Het |
| Csmd1 |
A |
T |
8: 16,003,738 (GRCm39) |
N2605K |
probably damaging |
Het |
| Dnajc10 |
T |
A |
2: 80,155,094 (GRCm39) |
|
probably null |
Het |
| Fbn1 |
T |
A |
2: 125,161,036 (GRCm39) |
D2168V |
probably benign |
Het |
| G2e3 |
T |
A |
12: 51,412,290 (GRCm39) |
N443K |
possibly damaging |
Het |
| Gak |
T |
C |
5: 108,730,940 (GRCm39) |
D822G |
probably benign |
Het |
| Gm9493 |
A |
G |
19: 23,597,277 (GRCm39) |
I58V |
probably benign |
Het |
| Gpr65 |
T |
G |
12: 98,242,324 (GRCm39) |
S326A |
probably damaging |
Het |
| Irs2 |
T |
C |
8: 11,057,739 (GRCm39) |
E231G |
probably damaging |
Het |
| Itih1 |
T |
C |
14: 30,665,223 (GRCm39) |
M1V |
probably null |
Het |
| Lgr5 |
A |
G |
10: 115,293,660 (GRCm39) |
|
probably null |
Het |
| Lipn |
A |
G |
19: 34,049,242 (GRCm39) |
N136S |
probably benign |
Het |
| Lrrc37a |
G |
A |
11: 103,388,258 (GRCm39) |
T2389I |
unknown |
Het |
| Myo7b |
G |
A |
18: 32,121,604 (GRCm39) |
A767V |
possibly damaging |
Het |
| Necab1 |
A |
T |
4: 15,111,244 (GRCm39) |
S61R |
possibly damaging |
Het |
| Or5m8 |
A |
G |
2: 85,822,994 (GRCm39) |
T278A |
probably damaging |
Het |
| Phyhip |
G |
A |
14: 70,699,260 (GRCm39) |
R21H |
probably damaging |
Het |
| Pls1 |
G |
A |
9: 95,667,560 (GRCm39) |
T116I |
probably damaging |
Het |
| Pnn |
C |
A |
12: 59,119,200 (GRCm39) |
S594R |
unknown |
Het |
| Psen1 |
T |
A |
12: 83,761,540 (GRCm39) |
I114N |
probably damaging |
Het |
| Rhox8 |
GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT |
GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT |
X: 36,966,991 (GRCm39) |
|
probably benign |
Het |
| Slc12a7 |
T |
A |
13: 73,933,188 (GRCm39) |
V82E |
probably damaging |
Het |
| Slc25a44 |
A |
G |
3: 88,323,368 (GRCm39) |
I246T |
probably benign |
Het |
| Slc2a13 |
T |
A |
15: 91,296,390 (GRCm39) |
Y308F |
probably benign |
Het |
| Sntb2 |
C |
A |
8: 107,662,930 (GRCm39) |
A166E |
possibly damaging |
Het |
| Tas2r135 |
T |
A |
6: 42,382,881 (GRCm39) |
V140D |
possibly damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,935,937 (GRCm39) |
T1704A |
probably benign |
Het |
| Txndc12 |
A |
G |
4: 108,718,606 (GRCm39) |
D159G |
probably benign |
Het |
| Ubash3a |
T |
C |
17: 31,427,139 (GRCm39) |
L16P |
probably benign |
Het |
| Usp4 |
T |
C |
9: 108,245,055 (GRCm39) |
L331P |
probably damaging |
Het |
| Vmn2r108 |
T |
C |
17: 20,692,532 (GRCm39) |
D108G |
probably benign |
Het |
| Vmn2r58 |
C |
A |
7: 41,487,123 (GRCm39) |
A591S |
probably benign |
Het |
| Wdpcp |
T |
C |
11: 21,698,919 (GRCm39) |
I566T |
probably damaging |
Het |
| Zfp866 |
T |
A |
8: 70,218,202 (GRCm39) |
K473* |
probably null |
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 |
|
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'- TTCCCATGAGTGCACGCAAC -3'
(R):5'- CAGTGCATGGTCAAGTCTGAG -3'
Sequencing Primer
(F):5'- AACACTCGCACGTTGGAG -3'
(R):5'- CATGGTCAAGTCTGAGAGCCATTC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation