Incidental Mutation 'R6931:Itga1'
ID |
540053 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Itga1
|
Ensembl Gene |
ENSMUSG00000042284 |
Gene Name |
integrin alpha 1 |
Synonyms |
E130012M19Rik, CD49A, Vla1 |
MMRRC Submission |
045326-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.254)
|
Stock # |
R6931 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
115094615-115238500 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 115138099 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 429
(N429D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000077132
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061673]
|
AlphaFold |
Q3V3R4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000061673
AA Change: N429D
PolyPhen 2
Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000077132 Gene: ENSMUSG00000042284 AA Change: N429D
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
99% (77/78) |
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310003L06Rik |
T |
A |
5: 88,118,561 (GRCm39) |
I15N |
probably damaging |
Het |
2900092C05Rik |
T |
A |
7: 12,246,523 (GRCm39) |
S6R |
unknown |
Het |
Abca6 |
T |
A |
11: 110,135,154 (GRCm39) |
L210F |
probably benign |
Het |
Abcc4 |
T |
C |
14: 118,765,400 (GRCm39) |
Q919R |
probably damaging |
Het |
Adcy1 |
A |
G |
11: 7,100,884 (GRCm39) |
D811G |
possibly damaging |
Het |
Akna |
A |
G |
4: 63,305,339 (GRCm39) |
S476P |
probably benign |
Het |
Ankrd49 |
T |
C |
9: 14,694,122 (GRCm39) |
N15S |
probably benign |
Het |
Apcdd1 |
A |
G |
18: 63,066,979 (GRCm39) |
D31G |
probably damaging |
Het |
Aplp1 |
G |
T |
7: 30,142,625 (GRCm39) |
R106S |
probably damaging |
Het |
Arhgap40 |
T |
C |
2: 158,373,138 (GRCm39) |
L132S |
probably benign |
Het |
Atp8b5 |
G |
T |
4: 43,364,108 (GRCm39) |
|
probably null |
Het |
Axl |
T |
C |
7: 25,460,858 (GRCm39) |
D717G |
probably damaging |
Het |
Bub1 |
T |
A |
2: 127,643,302 (GRCm39) |
D1014V |
probably damaging |
Het |
Cacna2d4 |
T |
A |
6: 119,259,195 (GRCm39) |
V603E |
possibly damaging |
Het |
Cnot11 |
G |
C |
1: 39,579,002 (GRCm39) |
C289S |
probably damaging |
Het |
Coasy |
A |
G |
11: 100,974,407 (GRCm39) |
H191R |
probably benign |
Het |
Cyp11a1 |
A |
T |
9: 57,932,403 (GRCm39) |
N341Y |
possibly damaging |
Het |
Cyp1a2 |
T |
C |
9: 57,589,439 (GRCm39) |
N125S |
probably benign |
Het |
Cyp2j8 |
A |
T |
4: 96,333,018 (GRCm39) |
|
probably null |
Het |
Dnah9 |
A |
T |
11: 66,008,452 (GRCm39) |
I791K |
possibly damaging |
Het |
Ecm2 |
A |
T |
13: 49,682,487 (GRCm39) |
Q505H |
probably benign |
Het |
Fam135a |
T |
A |
1: 24,124,568 (GRCm39) |
M1L |
probably damaging |
Het |
Fam171a2 |
A |
G |
11: 102,329,260 (GRCm39) |
S500P |
possibly damaging |
Het |
Fat3 |
A |
G |
9: 15,871,238 (GRCm39) |
S3718P |
possibly damaging |
Het |
Frem1 |
G |
A |
4: 82,888,914 (GRCm39) |
P1085S |
probably damaging |
Het |
Gcfc2 |
A |
G |
6: 81,919,966 (GRCm39) |
I390V |
probably benign |
Het |
Gemin4 |
A |
G |
11: 76,101,782 (GRCm39) |
L993P |
probably damaging |
Het |
Ggnbp2 |
T |
A |
11: 84,723,993 (GRCm39) |
D647V |
probably damaging |
Het |
Gpr84 |
A |
C |
15: 103,217,441 (GRCm39) |
L212R |
probably damaging |
Het |
Hnrnpu |
T |
C |
1: 178,158,997 (GRCm39) |
|
probably benign |
Het |
Hspg2 |
G |
T |
4: 137,268,031 (GRCm39) |
C2116F |
probably damaging |
Het |
Icam4 |
T |
A |
9: 20,941,747 (GRCm39) |
V249E |
probably damaging |
Het |
Kcns1 |
T |
C |
2: 164,006,758 (GRCm39) |
T402A |
probably damaging |
Het |
Ky |
T |
A |
9: 102,414,826 (GRCm39) |
V246E |
probably damaging |
Het |
Marchf1 |
A |
G |
8: 66,921,144 (GRCm39) |
T529A |
probably benign |
Het |
Med18 |
C |
G |
4: 132,187,194 (GRCm39) |
V102L |
probably damaging |
Het |
Mlst8 |
T |
C |
17: 24,696,249 (GRCm39) |
D160G |
probably damaging |
Het |
Mthfd1 |
T |
C |
12: 76,350,472 (GRCm39) |
I470T |
probably benign |
Het |
Muc1 |
C |
T |
3: 89,136,466 (GRCm39) |
|
probably benign |
Het |
Mup8 |
G |
A |
4: 60,220,322 (GRCm39) |
L137F |
probably damaging |
Het |
Mybpc1 |
A |
T |
10: 88,378,192 (GRCm39) |
L341* |
probably null |
Het |
Nacad |
A |
G |
11: 6,551,877 (GRCm39) |
F438S |
probably benign |
Het |
Necap2 |
C |
A |
4: 140,805,523 (GRCm39) |
|
probably null |
Het |
Nifk |
T |
C |
1: 118,260,078 (GRCm39) |
L163S |
possibly damaging |
Het |
Npsr1 |
A |
G |
9: 24,201,293 (GRCm39) |
I73V |
probably benign |
Het |
Nup50l |
T |
C |
6: 96,142,529 (GRCm39) |
T172A |
possibly damaging |
Het |
Oog3 |
C |
T |
4: 143,885,923 (GRCm39) |
C225Y |
probably benign |
Het |
Or2d2 |
A |
G |
7: 106,728,108 (GRCm39) |
L164P |
probably damaging |
Het |
Or4b13 |
A |
T |
2: 90,083,121 (GRCm39) |
C70* |
probably null |
Het |
Or4c100 |
T |
A |
2: 88,356,538 (GRCm39) |
C204S |
possibly damaging |
Het |
Or4p18 |
G |
A |
2: 88,232,408 (GRCm39) |
T290I |
probably benign |
Het |
Plagl2 |
C |
A |
2: 153,077,863 (GRCm39) |
K39N |
probably benign |
Het |
Plcg2 |
T |
A |
8: 118,284,058 (GRCm39) |
D118E |
probably benign |
Het |
Ppp4r3b |
A |
T |
11: 29,161,786 (GRCm39) |
K720I |
possibly damaging |
Het |
Prmt3 |
A |
T |
7: 49,478,764 (GRCm39) |
T442S |
probably benign |
Het |
Prr14l |
G |
A |
5: 32,988,035 (GRCm39) |
H487Y |
probably damaging |
Het |
Psmb3 |
G |
A |
11: 97,594,797 (GRCm39) |
V63I |
probably benign |
Het |
Psmc6 |
T |
A |
14: 45,581,182 (GRCm39) |
I326K |
possibly damaging |
Het |
Ptcd1 |
T |
C |
5: 145,091,885 (GRCm39) |
T405A |
probably benign |
Het |
Rbm33 |
G |
A |
5: 28,615,743 (GRCm39) |
V29M |
probably damaging |
Het |
Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
Scarb1 |
T |
A |
5: 125,361,783 (GRCm39) |
I107F |
probably damaging |
Het |
Slc39a12 |
A |
G |
2: 14,394,186 (GRCm39) |
S19G |
probably benign |
Het |
Slc44a5 |
T |
C |
3: 153,964,143 (GRCm39) |
V503A |
probably benign |
Het |
Slc9a9 |
T |
C |
9: 94,552,139 (GRCm39) |
S9P |
possibly damaging |
Het |
Snrnp35 |
A |
C |
5: 124,628,764 (GRCm39) |
R192S |
possibly damaging |
Het |
Tbx15 |
T |
C |
3: 99,259,467 (GRCm39) |
L446P |
probably damaging |
Het |
Tlnrd1 |
A |
G |
7: 83,531,805 (GRCm39) |
F209L |
probably benign |
Het |
Tmprss12 |
C |
T |
15: 100,183,149 (GRCm39) |
R164C |
probably damaging |
Het |
Tnfsf4 |
T |
A |
1: 161,244,644 (GRCm39) |
F111Y |
possibly damaging |
Het |
Trib2 |
A |
T |
12: 15,843,640 (GRCm39) |
M198K |
probably benign |
Het |
Ttll8 |
A |
G |
15: 88,798,507 (GRCm39) |
S743P |
possibly damaging |
Het |
Ush2a |
A |
T |
1: 188,460,580 (GRCm39) |
N2614Y |
probably benign |
Het |
Usp6nl |
G |
A |
2: 6,435,269 (GRCm39) |
V343I |
possibly damaging |
Het |
Vrtn |
C |
A |
12: 84,697,016 (GRCm39) |
Q589K |
probably benign |
Het |
Zbed5 |
T |
A |
5: 129,932,170 (GRCm39) |
Y706* |
probably null |
Het |
Zc3h10 |
A |
G |
10: 128,380,553 (GRCm39) |
V268A |
probably damaging |
Het |
Zfp442 |
C |
T |
2: 150,252,860 (GRCm39) |
|
probably null |
Het |
Zpld2 |
A |
T |
4: 133,920,464 (GRCm39) |
M567K |
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 |
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 |
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'- CCATAGCCTTCTAAGAGAGATTGC -3'
(R):5'- CTACATAAGTGTTTGCCCATGCC -3'
Sequencing Primer
(F):5'- GCCTTCTAAGAGAGATTGCTTATTTC -3'
(R):5'- AGTGTTTGCCCATGCCATTTTATTAC -3'
|
Posted On |
2018-11-06 |