Incidental Mutation 'R0302:Itga1'
| ID |
24866 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itga1
|
| Ensembl Gene |
ENSMUSG00000042284 |
| Gene Name |
integrin alpha 1 |
| Synonyms |
E130012M19Rik, CD49A, Vla1 |
| MMRRC Submission |
038514-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.254)
|
| Stock # |
R0302 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
115094615-115238500 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 115148854 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077132
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061673]
|
| AlphaFold |
Q3V3R4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061673
|
| SMART Domains |
Protein: ENSMUSP00000077132
Gene: ENSMUSG00000042284
| 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: ENSMUST00000224865
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 95.1%
- 20x: 89.5%
|
| Validation Efficiency |
100% (63/63) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprs |
T |
C |
4: 126,211,185 (GRCm39) |
E244G |
probably benign |
Het |
| Aldh1l2 |
G |
A |
10: 83,356,229 (GRCm39) |
P54S |
probably damaging |
Het |
| Ankdd1a |
G |
A |
9: 65,416,924 (GRCm39) |
|
probably benign |
Het |
| Ankra2 |
T |
A |
13: 98,408,200 (GRCm39) |
S216R |
probably damaging |
Het |
| Asah2 |
A |
T |
19: 32,030,356 (GRCm39) |
N105K |
probably benign |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,028,342 (GRCm39) |
Y893C |
probably benign |
Het |
| Capza2 |
G |
A |
6: 17,648,523 (GRCm39) |
R15H |
probably benign |
Het |
| Cbfa2t2 |
T |
C |
2: 154,376,796 (GRCm39) |
|
probably benign |
Het |
| Ccdc96 |
A |
T |
5: 36,643,445 (GRCm39) |
T484S |
possibly damaging |
Het |
| Cckar |
GCTTAGCCTCTTCT |
GCT |
5: 53,857,641 (GRCm39) |
|
probably null |
Het |
| Ccl4 |
T |
A |
11: 83,554,280 (GRCm39) |
|
probably benign |
Het |
| Cpt1b |
A |
G |
15: 89,302,073 (GRCm39) |
Y702H |
probably benign |
Het |
| Cr1l |
G |
A |
1: 194,800,101 (GRCm39) |
T153I |
probably damaging |
Het |
| Cyth2 |
C |
A |
7: 45,460,009 (GRCm39) |
E57* |
probably null |
Het |
| Daxx |
T |
A |
17: 34,132,594 (GRCm39) |
S575T |
probably damaging |
Het |
| Depdc5 |
T |
C |
5: 33,061,890 (GRCm39) |
|
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,521,956 (GRCm39) |
D1923G |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,162,937 (GRCm39) |
T428A |
probably benign |
Het |
| Dnm2 |
G |
T |
9: 21,411,639 (GRCm39) |
A619S |
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,723,457 (GRCm39) |
T639A |
probably benign |
Het |
| Epsti1 |
A |
T |
14: 78,177,366 (GRCm39) |
H182L |
probably damaging |
Het |
| Exoc3l |
C |
T |
8: 106,020,175 (GRCm39) |
R250Q |
probably benign |
Het |
| Ggn |
G |
T |
7: 28,870,665 (GRCm39) |
|
probably null |
Het |
| Il1rap |
A |
G |
16: 26,511,544 (GRCm39) |
N196S |
probably benign |
Het |
| Ints6 |
T |
C |
14: 62,946,961 (GRCm39) |
T335A |
probably damaging |
Het |
| Kifc3 |
G |
T |
8: 95,830,098 (GRCm39) |
Q557K |
possibly damaging |
Het |
| Krt23 |
A |
G |
11: 99,369,027 (GRCm39) |
I422T |
probably benign |
Het |
| Lcn2 |
A |
G |
2: 32,274,901 (GRCm39) |
|
probably benign |
Het |
| Lonp2 |
A |
G |
8: 87,364,619 (GRCm39) |
T326A |
possibly damaging |
Het |
| Lrpprc |
T |
C |
17: 85,047,506 (GRCm39) |
I909V |
possibly damaging |
Het |
| Lrrc14 |
G |
T |
15: 76,598,552 (GRCm39) |
R396L |
probably benign |
Het |
| Lypd6 |
T |
G |
2: 50,055,679 (GRCm39) |
|
probably benign |
Het |
| Man2b1 |
A |
G |
8: 85,819,645 (GRCm39) |
N610S |
probably damaging |
Het |
| Map2 |
A |
T |
1: 66,453,987 (GRCm39) |
N959I |
probably benign |
Het |
| Mctp2 |
C |
T |
7: 71,740,012 (GRCm39) |
V793I |
possibly damaging |
Het |
| Med25 |
A |
C |
7: 44,529,982 (GRCm39) |
|
probably benign |
Het |
| Mfsd6 |
T |
C |
1: 52,748,616 (GRCm39) |
Y83C |
probably damaging |
Het |
| Mtbp |
A |
T |
15: 55,488,820 (GRCm39) |
M499L |
probably damaging |
Het |
| Mtmr10 |
A |
T |
7: 63,947,245 (GRCm39) |
K53N |
probably damaging |
Het |
| Nfat5 |
T |
C |
8: 108,085,333 (GRCm39) |
I542T |
probably damaging |
Het |
| Nr1h3 |
A |
G |
2: 91,022,358 (GRCm39) |
M90T |
probably damaging |
Het |
| Nsmce4a |
A |
G |
7: 130,147,623 (GRCm39) |
|
probably benign |
Het |
| Oprl1 |
G |
A |
2: 181,361,021 (GRCm39) |
C318Y |
probably benign |
Het |
| Or5d40 |
T |
A |
2: 88,015,854 (GRCm39) |
I211N |
possibly damaging |
Het |
| Pbx3 |
A |
T |
2: 34,114,572 (GRCm39) |
S46T |
probably benign |
Het |
| Pign |
A |
T |
1: 105,516,818 (GRCm39) |
F575I |
possibly damaging |
Het |
| Ptpn13 |
G |
T |
5: 103,713,091 (GRCm39) |
S1738I |
probably benign |
Het |
| Rnf126 |
G |
T |
10: 79,595,057 (GRCm39) |
P269Q |
probably damaging |
Het |
| Ryr3 |
G |
A |
2: 112,477,468 (GRCm39) |
|
probably benign |
Het |
| Slc2a7 |
C |
T |
4: 150,233,978 (GRCm39) |
A31V |
probably damaging |
Het |
| Slc6a12 |
A |
G |
6: 121,340,218 (GRCm39) |
D487G |
probably damaging |
Het |
| Son |
G |
T |
16: 91,453,032 (GRCm39) |
G593V |
probably damaging |
Het |
| Spata31d1a |
T |
C |
13: 59,850,964 (GRCm39) |
N388S |
probably benign |
Het |
| Spg11 |
A |
T |
2: 121,922,668 (GRCm39) |
M927K |
possibly damaging |
Het |
| Taf13 |
A |
G |
3: 108,479,038 (GRCm39) |
M1V |
probably null |
Het |
| Trim32 |
G |
A |
4: 65,531,491 (GRCm39) |
R16Q |
probably damaging |
Het |
| Trio |
A |
G |
15: 27,902,603 (GRCm39) |
F286S |
probably damaging |
Het |
| Trpm2 |
A |
C |
10: 77,779,824 (GRCm39) |
|
probably benign |
Het |
| Ttc7b |
T |
C |
12: 100,353,438 (GRCm39) |
M390V |
possibly damaging |
Het |
| Vmn1r184 |
A |
T |
7: 25,966,968 (GRCm39) |
Q238L |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,676,213 (GRCm39) |
E368G |
probably damaging |
Het |
| Zfr2 |
G |
T |
10: 81,087,170 (GRCm39) |
|
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 |
|
|
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 |
|
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'- ACCACGATTGGCTTGTTAGTGGATG -3'
(R):5'- GAGTTGCCATGCTGTGCAAACC -3'
Sequencing Primer
(F):5'- TAGGATCTCAGGAGTTTCCAAACC -3'
(R):5'- TGCAAACCCTGTGGAACTATG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation