Incidental Mutation 'R5155:Itga1'
| ID |
396689 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itga1
|
| Ensembl Gene |
ENSMUSG00000042284 |
| Gene Name |
integrin alpha 1 |
| Synonyms |
E130012M19Rik, CD49A, Vla1 |
| MMRRC Submission |
042737-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.254)
|
| Stock # |
R5155 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
115094615-115238500 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 115171839 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 89
(S89T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077132
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061673]
[ENSMUST00000224495]
|
| AlphaFold |
Q3V3R4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061673
AA Change: S89T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000077132
Gene: ENSMUSG00000042284
AA Change: S89T
| 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 |
noncoding transcript
Transcript: ENSMUST00000224119
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224268
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224493
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224495
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224865
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.4%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,482,447 (GRCm39) |
V4326A |
probably damaging |
Het |
| Actn4 |
A |
G |
7: 28,661,442 (GRCm39) |
|
probably null |
Het |
| Adamts8 |
A |
G |
9: 30,865,844 (GRCm39) |
D464G |
probably benign |
Het |
| Adss1 |
T |
C |
12: 112,604,642 (GRCm39) |
I366T |
probably damaging |
Het |
| Alox12e |
T |
C |
11: 70,207,081 (GRCm39) |
D575G |
possibly damaging |
Het |
| Ankrd44 |
A |
T |
1: 54,817,489 (GRCm39) |
M73K |
probably benign |
Het |
| Ap4e1 |
A |
G |
2: 126,905,289 (GRCm39) |
T987A |
probably benign |
Het |
| Banp |
A |
C |
8: 122,727,759 (GRCm39) |
S318R |
probably damaging |
Het |
| Bcas1 |
T |
C |
2: 170,260,538 (GRCm39) |
H47R |
probably damaging |
Het |
| Brwd1 |
G |
T |
16: 95,803,993 (GRCm39) |
S2524* |
probably null |
Het |
| Btbd8 |
T |
C |
5: 107,638,569 (GRCm39) |
I323T |
probably damaging |
Het |
| Cand2 |
T |
A |
6: 115,769,219 (GRCm39) |
D676E |
probably benign |
Het |
| Cc2d1a |
A |
T |
8: 84,867,755 (GRCm39) |
H224Q |
probably benign |
Het |
| Ccdc138 |
A |
T |
10: 58,343,394 (GRCm39) |
Y83F |
probably benign |
Het |
| Ccdc162 |
A |
T |
10: 41,429,576 (GRCm39) |
|
probably null |
Het |
| Ccdc162 |
A |
C |
10: 41,455,147 (GRCm39) |
S396A |
probably damaging |
Het |
| Ces1e |
A |
T |
8: 93,928,034 (GRCm39) |
*562R |
probably null |
Het |
| Clstn2 |
T |
A |
9: 97,338,484 (GRCm39) |
M892L |
probably benign |
Het |
| Crybg3 |
T |
C |
16: 59,345,264 (GRCm39) |
T2673A |
possibly damaging |
Het |
| Cstf3 |
A |
G |
2: 104,482,830 (GRCm39) |
N326S |
probably benign |
Het |
| Cux1 |
G |
A |
5: 136,594,295 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
T |
G |
9: 86,922,456 (GRCm39) |
M155R |
probably benign |
Het |
| D130043K22Rik |
A |
G |
13: 25,056,273 (GRCm39) |
D535G |
probably damaging |
Het |
| Dnah2 |
G |
A |
11: 69,313,362 (GRCm39) |
P4266S |
probably damaging |
Het |
| Dnah7a |
T |
A |
1: 53,682,654 (GRCm39) |
N272I |
probably benign |
Het |
| Dsg2 |
A |
G |
18: 20,731,715 (GRCm39) |
Y779C |
possibly damaging |
Het |
| Eif4g3 |
T |
A |
4: 137,854,054 (GRCm39) |
N507K |
probably benign |
Het |
| Elavl4 |
T |
C |
4: 110,149,833 (GRCm39) |
Q3R |
probably null |
Het |
| Engase |
T |
G |
11: 118,372,107 (GRCm39) |
I133S |
probably benign |
Het |
| Ercc5 |
T |
C |
1: 44,219,782 (GRCm39) |
V1018A |
probably damaging |
Het |
| Ext1 |
C |
A |
15: 52,939,213 (GRCm39) |
W612L |
probably damaging |
Het |
| Faap100 |
T |
A |
11: 120,268,458 (GRCm39) |
E105V |
possibly damaging |
Het |
| Fam8a1 |
G |
A |
13: 46,827,038 (GRCm39) |
A270T |
probably benign |
Het |
| Fhdc1 |
T |
G |
3: 84,353,457 (GRCm39) |
Q589H |
probably benign |
Het |
| Gatm |
G |
A |
2: 122,440,334 (GRCm39) |
T35I |
probably benign |
Het |
| Gcgr |
T |
C |
11: 120,427,872 (GRCm39) |
I271T |
probably benign |
Het |
| Gm527 |
T |
A |
12: 64,970,381 (GRCm39) |
Y239N |
probably damaging |
Het |
| H2-Ab1 |
A |
G |
17: 34,486,358 (GRCm39) |
H139R |
possibly damaging |
Het |
| Herc2 |
G |
A |
7: 55,877,574 (GRCm39) |
R4547Q |
possibly damaging |
Het |
| Kash5 |
C |
A |
7: 44,839,078 (GRCm39) |
E53* |
probably null |
Het |
| Katnip |
A |
G |
7: 125,471,356 (GRCm39) |
T1486A |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,258,607 (GRCm39) |
M1365V |
probably benign |
Het |
| Lrp1b |
A |
C |
2: 41,618,634 (GRCm39) |
|
probably null |
Het |
| Map1a |
G |
A |
2: 121,132,867 (GRCm39) |
A990T |
probably damaging |
Het |
| Micall2 |
C |
A |
5: 139,695,986 (GRCm39) |
L784F |
probably damaging |
Het |
| Mmp9 |
T |
C |
2: 164,790,986 (GRCm39) |
|
probably null |
Het |
| Mrps7 |
T |
A |
11: 115,495,655 (GRCm39) |
Y64* |
probably null |
Het |
| Mslnl |
C |
T |
17: 25,957,942 (GRCm39) |
Q62* |
probably null |
Het |
| Nfil3 |
A |
G |
13: 53,122,616 (GRCm39) |
L96P |
probably damaging |
Het |
| Or2f1 |
A |
G |
6: 42,721,748 (GRCm39) |
Y259C |
probably damaging |
Het |
| Phf3 |
T |
C |
1: 30,863,457 (GRCm39) |
D756G |
possibly damaging |
Het |
| Plxnd1 |
C |
T |
6: 115,935,949 (GRCm39) |
|
probably null |
Het |
| Prickle4 |
C |
T |
17: 48,000,982 (GRCm39) |
|
probably null |
Het |
| Prr9 |
T |
A |
3: 92,030,356 (GRCm39) |
T95S |
possibly damaging |
Het |
| Prrc2a |
A |
G |
17: 35,379,067 (GRCm39) |
|
probably null |
Het |
| Prrt3 |
A |
G |
6: 113,474,520 (GRCm39) |
|
probably null |
Het |
| Psme4 |
A |
T |
11: 30,826,806 (GRCm39) |
Y1775F |
probably damaging |
Het |
| Pum2 |
T |
C |
12: 8,763,572 (GRCm39) |
V243A |
possibly damaging |
Het |
| Rnf32 |
T |
C |
5: 29,408,145 (GRCm39) |
S125P |
probably damaging |
Het |
| Rnf8 |
A |
G |
17: 29,845,604 (GRCm39) |
Y65C |
probably damaging |
Het |
| Rph3a |
T |
C |
5: 121,086,833 (GRCm39) |
T456A |
possibly damaging |
Het |
| Scaper |
T |
A |
9: 55,463,370 (GRCm39) |
Q854L |
probably null |
Het |
| Sez6l2 |
T |
C |
7: 126,561,545 (GRCm39) |
S472P |
probably damaging |
Het |
| Spsb3 |
T |
C |
17: 25,105,969 (GRCm39) |
|
probably benign |
Het |
| Srebf2 |
A |
G |
15: 82,080,427 (GRCm39) |
D40G |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,437,408 (GRCm39) |
N1389D |
probably benign |
Het |
| Taf4b |
G |
T |
18: 14,963,152 (GRCm39) |
A631S |
probably benign |
Het |
| Tcstv1b |
T |
C |
13: 120,635,089 (GRCm39) |
S124P |
probably benign |
Het |
| Tigd4 |
G |
A |
3: 84,501,970 (GRCm39) |
V296M |
possibly damaging |
Het |
| Tsc22d2 |
T |
A |
3: 58,324,737 (GRCm39) |
|
probably benign |
Het |
| Uso1 |
T |
A |
5: 92,315,194 (GRCm39) |
|
probably null |
Het |
| Vmn2r6 |
T |
G |
3: 64,445,935 (GRCm39) |
N597H |
probably benign |
Het |
| Zfc3h1 |
T |
A |
10: 115,248,026 (GRCm39) |
S1076R |
possibly damaging |
Het |
| Zfp64 |
T |
A |
2: 168,748,885 (GRCm39) |
Q44L |
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 |
|
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 |
|
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'- CTATGGCTGTTTCCTGATGAGTTAC -3'
(R):5'- GAGCAAACGTCGACTGTCTTAG -3'
Sequencing Primer
(F):5'- AATAAATTAAGGACTGAGTGAGACAC -3'
(R):5'- ACGTCGACTGTCTTAGAATTTACC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation