Incidental Mutation 'R4684:Itga1'
| ID |
353550 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itga1
|
| Ensembl Gene |
ENSMUSG00000042284 |
| Gene Name |
integrin alpha 1 |
| Synonyms |
E130012M19Rik, CD49A, Vla1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.215)
|
| Stock # |
R4684 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
115094615-115238500 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 115185906 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 32
(D32V)
|
| 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: D32V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077132
Gene: ENSMUSG00000042284
AA Change: D32V
| 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: ENSMUST00000224541
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224865
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
| 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: 89 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310039H08Rik |
T |
C |
17: 47,083,872 (GRCm39) |
V45A |
probably benign |
Het |
| 4921509C19Rik |
A |
G |
2: 151,313,791 (GRCm39) |
I629T |
unknown |
Het |
| 4933402N03Rik |
T |
C |
7: 130,740,413 (GRCm39) |
R268G |
probably damaging |
Het |
| Abca13 |
A |
T |
11: 9,384,193 (GRCm39) |
R3882* |
probably null |
Het |
| Adamts3 |
T |
G |
5: 89,850,866 (GRCm39) |
T558P |
probably damaging |
Het |
| Ano2 |
A |
G |
6: 125,767,304 (GRCm39) |
N214S |
probably benign |
Het |
| Arhgef4 |
A |
T |
1: 34,850,866 (GRCm39) |
|
probably null |
Het |
| Boc |
C |
T |
16: 44,320,743 (GRCm39) |
A306T |
probably benign |
Het |
| Capn10 |
T |
C |
1: 92,871,503 (GRCm39) |
F367S |
probably damaging |
Het |
| Ccdc6 |
T |
C |
10: 70,025,086 (GRCm39) |
|
probably benign |
Het |
| Cobll1 |
G |
T |
2: 64,929,372 (GRCm39) |
S688R |
possibly damaging |
Het |
| Cpxm2 |
G |
T |
7: 131,650,767 (GRCm39) |
P631Q |
possibly damaging |
Het |
| Cyp2c68 |
A |
G |
19: 39,687,779 (GRCm39) |
V406A |
possibly damaging |
Het |
| Cyp4a30b |
T |
A |
4: 115,312,200 (GRCm39) |
Y118N |
probably damaging |
Het |
| Dgki |
A |
T |
6: 37,276,781 (GRCm39) |
|
probably benign |
Het |
| Disp2 |
A |
G |
2: 118,623,237 (GRCm39) |
N1323S |
probably damaging |
Het |
| Dock1 |
T |
A |
7: 134,326,138 (GRCm39) |
Y42* |
probably null |
Het |
| Eps8l1 |
C |
A |
7: 4,476,944 (GRCm39) |
P471Q |
probably damaging |
Het |
| Fam20a |
A |
C |
11: 109,612,513 (GRCm39) |
L10R |
unknown |
Het |
| Fpr-rs4 |
T |
A |
17: 18,242,446 (GRCm39) |
I151K |
probably damaging |
Het |
| Gga1 |
C |
A |
15: 78,769,509 (GRCm39) |
P161T |
probably damaging |
Het |
| Gm9923 |
T |
A |
10: 72,145,306 (GRCm39) |
Y52* |
probably null |
Het |
| Gucy2g |
A |
G |
19: 55,194,688 (GRCm39) |
F910L |
probably damaging |
Het |
| H2-T5 |
A |
T |
17: 36,476,750 (GRCm39) |
H241Q |
possibly damaging |
Het |
| Helz |
T |
C |
11: 107,539,971 (GRCm39) |
V315A |
probably damaging |
Het |
| Hk2 |
T |
C |
6: 82,716,629 (GRCm39) |
Y301C |
probably damaging |
Het |
| Htt |
C |
T |
5: 35,010,109 (GRCm39) |
P1521S |
probably damaging |
Het |
| Iah1 |
T |
C |
12: 21,366,434 (GRCm39) |
M1T |
probably null |
Het |
| Ik |
T |
C |
18: 36,885,467 (GRCm39) |
S287P |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,274,671 (GRCm39) |
F837S |
probably damaging |
Het |
| Klk14 |
A |
G |
7: 43,341,392 (GRCm39) |
I15V |
probably benign |
Het |
| Kng2 |
T |
C |
16: 22,806,391 (GRCm39) |
I603V |
possibly damaging |
Het |
| Lama1 |
T |
C |
17: 68,080,773 (GRCm39) |
I1267T |
possibly damaging |
Het |
| Lrp1b |
A |
C |
2: 40,812,316 (GRCm39) |
L2430V |
probably benign |
Het |
| Lrrn3 |
T |
G |
12: 41,504,243 (GRCm39) |
K25Q |
possibly damaging |
Het |
| Lta4h |
T |
A |
10: 93,304,678 (GRCm39) |
N233K |
probably benign |
Het |
| Mapk13 |
T |
C |
17: 28,989,023 (GRCm39) |
I53T |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,666,430 (GRCm39) |
F123L |
probably damaging |
Het |
| Myh4 |
G |
C |
11: 67,136,637 (GRCm39) |
D472H |
probably damaging |
Het |
| Nipa2 |
A |
T |
7: 55,585,574 (GRCm39) |
N121K |
probably benign |
Het |
| Nostrin |
C |
T |
2: 69,014,268 (GRCm39) |
T408M |
probably benign |
Het |
| Oosp2 |
C |
T |
19: 11,627,017 (GRCm39) |
R102H |
probably damaging |
Het |
| Or1j18 |
A |
G |
2: 36,624,686 (GRCm39) |
M118V |
probably damaging |
Het |
| Or4k15b |
T |
C |
14: 50,272,287 (GRCm39) |
D191G |
probably damaging |
Het |
| Osgin2 |
T |
A |
4: 16,001,946 (GRCm39) |
I202L |
probably benign |
Het |
| Pbld2 |
C |
A |
10: 62,893,476 (GRCm39) |
R271S |
probably damaging |
Het |
| Pex6 |
C |
T |
17: 47,023,027 (GRCm39) |
T201I |
probably benign |
Het |
| Pilra |
T |
C |
5: 137,833,777 (GRCm39) |
I96M |
probably damaging |
Het |
| Pllp |
T |
A |
8: 95,403,906 (GRCm39) |
D47V |
possibly damaging |
Het |
| Plxna2 |
A |
G |
1: 194,444,902 (GRCm39) |
S765G |
probably benign |
Het |
| Prkca |
A |
T |
11: 107,852,434 (GRCm39) |
Y100N |
probably damaging |
Het |
| Prkg1 |
T |
A |
19: 31,641,579 (GRCm39) |
K35* |
probably null |
Het |
| Psmc2 |
A |
G |
5: 22,008,263 (GRCm39) |
D389G |
possibly damaging |
Het |
| Rnf213 |
A |
G |
11: 119,331,951 (GRCm39) |
T2387A |
probably damaging |
Het |
| Ros1 |
T |
C |
10: 52,005,192 (GRCm39) |
N914S |
probably damaging |
Het |
| Ruvbl1 |
C |
A |
6: 88,468,581 (GRCm39) |
T367K |
probably benign |
Het |
| Scube2 |
C |
T |
7: 109,409,920 (GRCm39) |
R525H |
probably damaging |
Het |
| Sec14l4 |
T |
C |
11: 3,985,200 (GRCm39) |
|
probably null |
Het |
| Secisbp2l |
T |
C |
2: 125,587,862 (GRCm39) |
D751G |
probably damaging |
Het |
| Setd3 |
T |
C |
12: 108,074,949 (GRCm39) |
D402G |
probably benign |
Het |
| Slc15a2 |
T |
A |
16: 36,578,211 (GRCm39) |
K359N |
probably damaging |
Het |
| Slc25a21 |
A |
G |
12: 57,243,721 (GRCm39) |
S2P |
probably benign |
Het |
| Slfn8 |
A |
T |
11: 82,908,332 (GRCm39) |
H70Q |
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,647,576 (GRCm39) |
I944V |
probably benign |
Het |
| Spg11 |
A |
G |
2: 121,895,557 (GRCm39) |
F1887S |
probably damaging |
Het |
| Sptbn4 |
A |
T |
7: 27,066,160 (GRCm39) |
D649E |
possibly damaging |
Het |
| Sptbn4 |
T |
C |
7: 27,063,844 (GRCm39) |
E879G |
probably damaging |
Het |
| Stx5a |
C |
A |
19: 8,720,725 (GRCm39) |
R121S |
probably damaging |
Het |
| Tbcd |
T |
C |
11: 121,384,597 (GRCm39) |
L26P |
probably damaging |
Het |
| Tecpr1 |
T |
C |
5: 144,144,255 (GRCm39) |
D649G |
probably benign |
Het |
| Tfam |
A |
G |
10: 71,073,677 (GRCm39) |
S32P |
probably benign |
Het |
| Tmt1b |
G |
T |
10: 128,796,571 (GRCm39) |
C79* |
probably null |
Het |
| Trmt44 |
C |
T |
5: 35,715,387 (GRCm39) |
R642H |
probably benign |
Het |
| Trpm3 |
G |
A |
19: 22,965,145 (GRCm39) |
A1547T |
probably benign |
Het |
| Ttll6 |
T |
C |
11: 96,044,003 (GRCm39) |
V519A |
probably benign |
Het |
| Umodl1 |
T |
C |
17: 31,217,088 (GRCm39) |
F1107L |
probably benign |
Het |
| Usp5 |
A |
T |
6: 124,794,919 (GRCm39) |
V677E |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,643,307 (GRCm39) |
L605* |
probably null |
Het |
| Utrn |
T |
C |
10: 12,620,984 (GRCm39) |
D229G |
probably damaging |
Het |
| Uty |
A |
T |
Y: 1,176,502 (GRCm39) |
L178* |
probably null |
Het |
| Vmn2r88 |
A |
T |
14: 51,650,791 (GRCm39) |
D168V |
possibly damaging |
Het |
| Vps13b |
T |
C |
15: 35,646,324 (GRCm39) |
V1476A |
probably damaging |
Het |
| Vps13b |
C |
A |
15: 35,879,967 (GRCm39) |
T3014K |
probably benign |
Het |
| Vps13b |
C |
T |
15: 35,841,487 (GRCm39) |
H2506Y |
probably benign |
Het |
| Vps37c |
T |
C |
19: 10,690,132 (GRCm39) |
V198A |
probably benign |
Het |
| Zfc3h1 |
T |
C |
10: 115,259,290 (GRCm39) |
Y1621H |
probably benign |
Het |
| Zfp251 |
T |
C |
15: 76,738,607 (GRCm39) |
D162G |
possibly damaging |
Het |
| Zfp292 |
T |
C |
4: 34,807,078 (GRCm39) |
T1994A |
probably benign |
Het |
| Zfp791 |
A |
G |
8: 85,837,559 (GRCm39) |
Y102H |
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 |
|
|
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'- TGTCAGCTTCCATCACCGAC -3'
(R):5'- AACAGATCCTTCCTAGAGTTCTCATAC -3'
Sequencing Primer
(F):5'- TCTAGCTCAAATGAGTCATTCCG -3'
(R):5'- GAGCACAGCTTTCATTGC -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation