Incidental Mutation 'R9249:Itga1'
| ID |
701454 |
| 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 # |
R9249 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
115094615-115238500 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 115185834 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 56
(N56S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077132
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061673]
[ENSMUST00000224495]
|
| AlphaFold |
Q3V3R4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061673
AA Change: N56S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077132
Gene: ENSMUSG00000042284
AA Change: N56S
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
A |
11: 110,220,165 (GRCm39) |
|
probably benign |
Het |
| Arfgef2 |
T |
C |
2: 166,733,690 (GRCm39) |
F1650S |
probably damaging |
Het |
| Bscl2 |
A |
T |
19: 8,820,378 (GRCm39) |
D133V |
probably damaging |
Het |
| Cacna1c |
T |
C |
6: 118,590,288 (GRCm39) |
Y1564C |
|
Het |
| Ccdc182 |
T |
C |
11: 88,185,178 (GRCm39) |
V86A |
probably benign |
Het |
| Cd44 |
T |
G |
2: 102,661,747 (GRCm39) |
T616P |
possibly damaging |
Het |
| Cep152 |
C |
T |
2: 125,405,904 (GRCm39) |
E1543K |
probably benign |
Het |
| Chpf2 |
C |
A |
5: 24,794,235 (GRCm39) |
T135K |
probably damaging |
Het |
| Cntn4 |
C |
T |
6: 106,466,722 (GRCm39) |
P208L |
possibly damaging |
Het |
| Col6a3 |
T |
A |
1: 90,707,020 (GRCm39) |
Y2638F |
unknown |
Het |
| Csmd2 |
C |
A |
4: 128,313,323 (GRCm39) |
Y1333* |
probably null |
Het |
| Cyp3a25 |
T |
C |
5: 145,928,356 (GRCm39) |
T230A |
possibly damaging |
Het |
| Dbndd2 |
T |
C |
2: 164,328,077 (GRCm39) |
|
probably benign |
Het |
| Ecpas |
T |
C |
4: 58,869,427 (GRCm39) |
K280R |
probably damaging |
Het |
| Egfl8 |
C |
A |
17: 34,833,491 (GRCm39) |
A133S |
probably benign |
Het |
| Fasn |
T |
C |
11: 120,703,915 (GRCm39) |
H1475R |
probably benign |
Het |
| Gdpd5 |
T |
C |
7: 99,107,989 (GRCm39) |
L522P |
probably damaging |
Het |
| Gzmd |
T |
G |
14: 56,368,790 (GRCm39) |
M35L |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,762,890 (GRCm39) |
L873Q |
probably damaging |
Het |
| Hsd3b6 |
T |
C |
3: 98,713,679 (GRCm39) |
K207E |
probably benign |
Het |
| Ikbkb |
T |
A |
8: 23,171,735 (GRCm39) |
K171* |
probably null |
Het |
| Il21 |
T |
A |
3: 37,279,677 (GRCm39) |
|
probably null |
Het |
| Map1lc3b |
T |
C |
8: 122,322,833 (GRCm39) |
|
probably null |
Het |
| Mapk13 |
A |
G |
17: 28,988,490 (GRCm39) |
Y36C |
probably damaging |
Het |
| Myh3 |
C |
T |
11: 66,975,855 (GRCm39) |
P296S |
probably benign |
Het |
| Myo5a |
A |
G |
9: 75,097,279 (GRCm39) |
N1319S |
possibly damaging |
Het |
| Myot |
T |
C |
18: 44,479,265 (GRCm39) |
V334A |
probably benign |
Het |
| Ncor2 |
T |
C |
5: 125,186,988 (GRCm39) |
E12G |
unknown |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
| Nphs2 |
G |
A |
1: 156,144,416 (GRCm39) |
R140Q |
probably damaging |
Het |
| Nup98 |
C |
A |
7: 101,788,037 (GRCm39) |
R1011L |
probably benign |
Het |
| Nvl |
A |
G |
1: 180,962,593 (GRCm39) |
Y126H |
probably damaging |
Het |
| Or1j14 |
T |
C |
2: 36,417,559 (GRCm39) |
I45T |
probably damaging |
Het |
| Or5w1 |
A |
T |
2: 87,486,660 (GRCm39) |
F202I |
probably benign |
Het |
| Or8g29-ps1 |
T |
A |
9: 39,200,602 (GRCm39) |
N195Y |
unknown |
Het |
| Or8g36 |
A |
T |
9: 39,422,149 (GRCm39) |
I289N |
probably damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,122,012 (GRCm39) |
D651E |
probably benign |
Het |
| Papola |
T |
A |
12: 105,799,403 (GRCm39) |
H677Q |
probably benign |
Het |
| Pcbp3 |
T |
C |
10: 76,635,377 (GRCm39) |
S59G |
probably benign |
Het |
| Pkd1l2 |
T |
A |
8: 117,746,159 (GRCm39) |
I1944F |
probably damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Polb |
A |
T |
8: 23,143,084 (GRCm39) |
N37K |
probably benign |
Het |
| Ppfia2 |
T |
C |
10: 106,749,429 (GRCm39) |
V1105A |
probably damaging |
Het |
| Ric3 |
C |
T |
7: 108,647,212 (GRCm39) |
D204N |
probably damaging |
Het |
| Scn8a |
A |
G |
15: 100,914,456 (GRCm39) |
D1154G |
probably benign |
Het |
| Sdk1 |
C |
A |
5: 142,129,550 (GRCm39) |
N1590K |
probably damaging |
Het |
| Sec31a |
C |
A |
5: 100,533,083 (GRCm39) |
R163L |
probably damaging |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Serpina3i |
C |
T |
12: 104,231,728 (GRCm39) |
Q122* |
probably null |
Het |
| Sgo2b |
A |
C |
8: 64,391,407 (GRCm39) |
Y153* |
probably null |
Het |
| Sgsm1 |
T |
A |
5: 113,428,201 (GRCm39) |
H329L |
possibly damaging |
Het |
| Sh3tc2 |
A |
C |
18: 62,107,598 (GRCm39) |
N203T |
possibly damaging |
Het |
| Skint8 |
C |
A |
4: 111,794,159 (GRCm39) |
T183K |
probably damaging |
Het |
| Slc6a20a |
T |
C |
9: 123,507,941 (GRCm39) |
|
probably benign |
Het |
| Slc8a2 |
T |
C |
7: 15,891,156 (GRCm39) |
F732S |
probably damaging |
Het |
| Spata16 |
T |
C |
3: 26,787,030 (GRCm39) |
V236A |
possibly damaging |
Het |
| Stard5 |
A |
G |
7: 83,281,253 (GRCm39) |
D2G |
probably damaging |
Het |
| Stk25 |
T |
C |
1: 93,552,806 (GRCm39) |
S328G |
probably benign |
Het |
| Tmem39b |
A |
T |
4: 129,572,468 (GRCm39) |
M378K |
probably damaging |
Het |
| Tspan10 |
T |
C |
11: 120,337,051 (GRCm39) |
F274L |
probably benign |
Het |
| Tssk1 |
A |
T |
16: 17,712,724 (GRCm39) |
I170L |
probably benign |
Het |
| Vmn1r6 |
A |
G |
6: 56,979,760 (GRCm39) |
R141G |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 101,996,359 (GRCm39) |
S3168P |
possibly damaging |
Het |
| Zfp458 |
T |
A |
13: 67,405,218 (GRCm39) |
H407L |
probably 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 |
|
|
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'- CGTGGTTTAAAGTTCTAAGGAATGCTG -3'
(R):5'- AAGAGCACAGCTTTCATTGC -3'
Sequencing Primer
(F):5'- AAGTTCTAAGGAATGCTGCTTCTTTG -3'
(R):5'- GCACAGCTTTCATTGCTAACACTAAG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation