Incidental Mutation 'R5945:Itga1'
| ID |
460573 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itga1
|
| Ensembl Gene |
ENSMUSG00000042284 |
| Gene Name |
integrin alpha 1 |
| Synonyms |
E130012M19Rik, CD49A, Vla1 |
| MMRRC Submission |
044137-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.254)
|
| Stock # |
R5945 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
115094615-115238500 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 115103126 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Histidine
at position 1102
(N1102H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077132
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061673]
|
| AlphaFold |
Q3V3R4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061673
AA Change: N1102H
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000077132
Gene: ENSMUSG00000042284
AA Change: N1102H
| 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 |
|
| Meta Mutation Damage Score |
0.0599 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
| Validation Efficiency |
100% (101/101) |
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930488N24Rik |
T |
C |
17: 14,326,601 (GRCm39) |
|
noncoding transcript |
Het |
| Abca13 |
C |
T |
11: 9,243,398 (GRCm39) |
H1754Y |
probably benign |
Het |
| Abi1 |
T |
C |
2: 22,929,977 (GRCm39) |
E34G |
probably damaging |
Het |
| Apobec3 |
C |
T |
15: 79,782,047 (GRCm39) |
T19I |
probably damaging |
Het |
| Arel1 |
C |
A |
12: 84,973,121 (GRCm39) |
V559L |
probably benign |
Het |
| Arhgef10 |
T |
C |
8: 15,030,028 (GRCm39) |
|
probably null |
Het |
| Asb6 |
T |
C |
2: 30,718,215 (GRCm39) |
|
probably benign |
Het |
| Asxl2 |
T |
C |
12: 3,550,439 (GRCm39) |
V727A |
possibly damaging |
Het |
| Atp13a5 |
C |
A |
16: 29,055,995 (GRCm39) |
R1100L |
probably benign |
Het |
| Atp6v1a |
A |
G |
16: 43,920,309 (GRCm39) |
V429A |
probably damaging |
Het |
| Caml |
A |
G |
13: 55,776,445 (GRCm39) |
Y228C |
probably damaging |
Het |
| Ccdc14 |
A |
G |
16: 34,543,958 (GRCm39) |
E772G |
probably damaging |
Het |
| Ccdc96 |
A |
G |
5: 36,643,194 (GRCm39) |
E400G |
probably damaging |
Het |
| Ces1h |
T |
A |
8: 94,090,254 (GRCm39) |
E266V |
probably benign |
Het |
| Chd5 |
G |
T |
4: 152,464,408 (GRCm39) |
Q1522H |
probably benign |
Het |
| CN725425 |
T |
A |
15: 91,129,980 (GRCm39) |
I281N |
possibly damaging |
Het |
| Cngb3 |
A |
T |
4: 19,283,579 (GRCm39) |
E62V |
probably null |
Het |
| Cops5 |
T |
A |
1: 10,108,235 (GRCm39) |
|
probably benign |
Het |
| Crhr2 |
T |
A |
6: 55,077,667 (GRCm39) |
I232F |
possibly damaging |
Het |
| Cxcl3 |
C |
T |
5: 90,934,175 (GRCm39) |
|
probably benign |
Het |
| Ddx31 |
T |
A |
2: 28,749,902 (GRCm39) |
I308N |
probably damaging |
Het |
| Efcab14 |
T |
A |
4: 115,613,664 (GRCm39) |
V204D |
probably damaging |
Het |
| Emsy |
T |
C |
7: 98,268,590 (GRCm39) |
T484A |
probably damaging |
Het |
| Ep400 |
A |
T |
5: 110,830,732 (GRCm39) |
I2257N |
unknown |
Het |
| Epb41l4a |
T |
A |
18: 33,961,783 (GRCm39) |
Q420L |
possibly damaging |
Het |
| Fat4 |
A |
G |
3: 39,037,355 (GRCm39) |
D3669G |
probably benign |
Het |
| Fmnl2 |
C |
A |
2: 53,004,211 (GRCm39) |
T607K |
probably damaging |
Het |
| Glod4 |
T |
C |
11: 76,125,297 (GRCm39) |
Y135C |
probably damaging |
Het |
| Gm10912 |
A |
G |
2: 103,896,961 (GRCm39) |
I33M |
possibly damaging |
Het |
| Gm5592 |
T |
C |
7: 40,865,036 (GRCm39) |
|
probably benign |
Het |
| Gria4 |
A |
G |
9: 4,456,122 (GRCm39) |
L726P |
probably damaging |
Het |
| H2-M10.4 |
T |
C |
17: 36,771,518 (GRCm39) |
E220G |
probably benign |
Het |
| Itpk1 |
A |
G |
12: 102,554,812 (GRCm39) |
I6T |
probably damaging |
Het |
| Kcnh4 |
T |
C |
11: 100,636,148 (GRCm39) |
D833G |
probably damaging |
Het |
| Kdm1a |
T |
C |
4: 136,296,012 (GRCm39) |
|
probably null |
Het |
| Kif24 |
G |
A |
4: 41,428,670 (GRCm39) |
Q97* |
probably null |
Het |
| Klhl2 |
T |
C |
8: 65,202,762 (GRCm39) |
I479V |
probably benign |
Het |
| Large1 |
T |
C |
8: 73,578,828 (GRCm39) |
Y459C |
probably damaging |
Het |
| Lcn8 |
T |
G |
2: 25,545,509 (GRCm39) |
L169R |
probably damaging |
Het |
| Loxl3 |
T |
G |
6: 83,014,492 (GRCm39) |
S133R |
probably damaging |
Het |
| Lyzl4 |
A |
G |
9: 121,413,529 (GRCm39) |
Y4H |
unknown |
Het |
| Marchf7 |
A |
G |
2: 60,071,331 (GRCm39) |
K612E |
probably damaging |
Het |
| Mreg |
C |
T |
1: 72,231,359 (GRCm39) |
G33D |
probably benign |
Het |
| Ms4a6c |
A |
C |
19: 11,457,863 (GRCm39) |
|
probably benign |
Het |
| Nrbf2 |
G |
A |
10: 67,103,299 (GRCm39) |
S268F |
possibly damaging |
Het |
| Oog4 |
T |
A |
4: 143,164,293 (GRCm39) |
I341F |
probably benign |
Het |
| Or4k5 |
A |
G |
14: 50,386,220 (GRCm39) |
V37A |
probably benign |
Het |
| Or5h26 |
A |
G |
16: 58,988,482 (GRCm39) |
L8P |
probably benign |
Het |
| Or5h27 |
C |
T |
16: 59,006,091 (GRCm39) |
V252I |
unknown |
Het |
| Or5l14 |
A |
T |
2: 87,792,946 (GRCm39) |
C97S |
probably damaging |
Het |
| Pcdhb5 |
G |
A |
18: 37,454,523 (GRCm39) |
R301Q |
probably benign |
Het |
| Podn |
T |
C |
4: 107,878,910 (GRCm39) |
K174R |
possibly damaging |
Het |
| Pphln1 |
T |
C |
15: 93,353,413 (GRCm39) |
|
probably null |
Het |
| Ppp2r1a |
C |
G |
17: 21,179,675 (GRCm39) |
H112D |
possibly damaging |
Het |
| Prmt5 |
A |
G |
14: 54,752,344 (GRCm39) |
F151L |
possibly damaging |
Het |
| Ptch1 |
A |
T |
13: 63,721,233 (GRCm39) |
|
probably benign |
Het |
| Rgl2 |
A |
G |
17: 34,151,012 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
A |
T |
13: 11,675,008 (GRCm39) |
I3373N |
probably damaging |
Het |
| Scap |
A |
G |
9: 110,213,664 (GRCm39) |
N1209S |
probably benign |
Het |
| Sin3b |
T |
C |
8: 73,457,793 (GRCm39) |
S170P |
probably damaging |
Het |
| Slc22a4 |
A |
T |
11: 53,886,854 (GRCm39) |
I296N |
probably damaging |
Het |
| Slco1a8 |
T |
A |
6: 141,940,008 (GRCm39) |
N145I |
probably damaging |
Het |
| Slco2a1 |
T |
C |
9: 102,923,989 (GRCm39) |
S68P |
probably damaging |
Het |
| Snx8 |
A |
G |
5: 140,339,235 (GRCm39) |
C161R |
probably benign |
Het |
| Spryd3 |
C |
T |
15: 102,026,630 (GRCm39) |
C347Y |
probably benign |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Strn3 |
T |
C |
12: 51,676,279 (GRCm39) |
T333A |
probably benign |
Het |
| Swt1 |
T |
A |
1: 151,286,921 (GRCm39) |
E190D |
probably benign |
Het |
| Tchh |
A |
T |
3: 93,352,644 (GRCm39) |
I695F |
unknown |
Het |
| Tfap4 |
G |
A |
16: 4,363,493 (GRCm39) |
S314L |
possibly damaging |
Het |
| Tigd3 |
G |
T |
19: 5,941,894 (GRCm39) |
T412K |
probably benign |
Het |
| Tmem184b |
T |
A |
15: 79,249,681 (GRCm39) |
|
probably null |
Het |
| Trpa1 |
T |
C |
1: 14,968,359 (GRCm39) |
D469G |
probably benign |
Het |
| Tssk1 |
T |
C |
16: 17,712,565 (GRCm39) |
F117L |
probably damaging |
Het |
| Tuba3b |
T |
A |
6: 145,565,471 (GRCm39) |
M313K |
probably damaging |
Het |
| Tubgcp6 |
T |
C |
15: 88,993,420 (GRCm39) |
|
probably null |
Het |
| Vav1 |
A |
G |
17: 57,608,870 (GRCm39) |
K345E |
possibly damaging |
Het |
| Zdhhc4 |
G |
A |
5: 143,310,641 (GRCm39) |
R64C |
probably damaging |
Het |
| Zfp280d |
T |
A |
9: 72,269,614 (GRCm39) |
L892* |
probably null |
Het |
| Zfp46 |
T |
A |
4: 136,014,528 (GRCm39) |
M3K |
probably damaging |
Het |
| Zfp607b |
C |
A |
7: 27,401,841 (GRCm39) |
P99Q |
probably benign |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
| Zfp990 |
T |
A |
4: 145,264,613 (GRCm39) |
I537N |
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 |
|
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'- TCTGACATGAGCGTCCGTTC -3'
(R):5'- GGCCACATGCATAGCCATAC -3'
Sequencing Primer
(F):5'- ACATGAGCGTCCGTTCAATCG -3'
(R):5'- TCCTTAGCTAGAGGTGAGACC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation