Incidental Mutation 'R0265:Itga1'
ID |
34879 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Itga1
|
Ensembl Gene |
ENSMUSG00000042284 |
Gene Name |
integrin alpha 1 |
Synonyms |
E130012M19Rik, CD49A, Vla1 |
MMRRC Submission |
038491-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.254)
|
Stock # |
R0265 (G1)
|
Quality Score |
186 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
115094615-115238500 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 115128995 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 554
(D554E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000077132
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061673]
|
AlphaFold |
Q3V3R4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000061673
AA Change: D554E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000077132 Gene: ENSMUSG00000042284 AA Change: D554E
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: ENSMUST00000224865
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.4%
- 10x: 95.6%
- 20x: 92.0%
|
Validation Efficiency |
99% (83/84) |
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: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
A |
G |
7: 119,822,850 (GRCm39) |
I321V |
probably benign |
Het |
Adcy7 |
A |
G |
8: 89,051,391 (GRCm39) |
D837G |
probably damaging |
Het |
Aldh1a1 |
T |
A |
19: 20,617,440 (GRCm39) |
Y457* |
probably null |
Het |
Alox5 |
T |
C |
6: 116,397,323 (GRCm39) |
Y287C |
probably benign |
Het |
Ano8 |
T |
C |
8: 71,933,168 (GRCm39) |
|
probably benign |
Het |
Ap3b1 |
A |
G |
13: 94,630,189 (GRCm39) |
K815E |
unknown |
Het |
Atp11a |
A |
T |
8: 12,906,930 (GRCm39) |
|
probably benign |
Het |
Atp6v0a1 |
A |
T |
11: 100,939,341 (GRCm39) |
D702V |
possibly damaging |
Het |
Cacna1b |
T |
A |
2: 24,651,856 (GRCm39) |
N108Y |
probably damaging |
Het |
Ccdc57 |
G |
C |
11: 120,812,637 (GRCm39) |
A39G |
probably benign |
Het |
Cdhr1 |
A |
T |
14: 36,803,333 (GRCm39) |
V581D |
probably benign |
Het |
Cfap20dc |
T |
G |
14: 8,431,667 (GRCm38) |
Y655S |
probably damaging |
Het |
Cyp2b23 |
A |
G |
7: 26,372,304 (GRCm39) |
|
probably benign |
Het |
D430041D05Rik |
G |
C |
2: 103,998,295 (GRCm39) |
P1836R |
probably damaging |
Het |
Ddit4l |
C |
T |
3: 137,330,048 (GRCm39) |
|
probably benign |
Het |
Dnah8 |
A |
T |
17: 30,909,245 (GRCm39) |
I1024F |
probably benign |
Het |
Dync2i1 |
T |
C |
12: 116,221,026 (GRCm39) |
|
probably benign |
Het |
Edc3 |
T |
A |
9: 57,634,621 (GRCm39) |
F213I |
probably damaging |
Het |
Edrf1 |
G |
A |
7: 133,258,774 (GRCm39) |
D717N |
probably damaging |
Het |
Efna5 |
G |
A |
17: 62,958,068 (GRCm39) |
P63S |
probably damaging |
Het |
Elapor2 |
T |
C |
5: 9,484,681 (GRCm39) |
L486P |
probably damaging |
Het |
Entpd3 |
A |
G |
9: 120,387,547 (GRCm39) |
Y248C |
probably damaging |
Het |
Flcn |
G |
A |
11: 59,686,635 (GRCm39) |
Q373* |
probably null |
Het |
Fry |
T |
C |
5: 150,358,241 (GRCm39) |
V1908A |
probably damaging |
Het |
Gabrg3 |
A |
T |
7: 57,031,365 (GRCm39) |
Y58* |
probably null |
Het |
Gabrp |
A |
T |
11: 33,502,614 (GRCm39) |
Y417N |
probably damaging |
Het |
Golga2 |
C |
A |
2: 32,194,964 (GRCm39) |
|
probably null |
Het |
Grip2 |
C |
A |
6: 91,750,773 (GRCm39) |
|
probably null |
Het |
Gsx2 |
A |
G |
5: 75,237,729 (GRCm39) |
Y227C |
probably damaging |
Het |
H2ac1 |
T |
C |
13: 24,118,632 (GRCm39) |
V63A |
probably benign |
Het |
Hif3a |
T |
C |
7: 16,769,793 (GRCm39) |
*665W |
probably null |
Het |
Hsd3b1 |
C |
A |
3: 98,760,089 (GRCm39) |
V301L |
probably damaging |
Het |
Ifitm5 |
T |
C |
7: 140,529,921 (GRCm39) |
|
probably benign |
Het |
Inpp4a |
A |
T |
1: 37,418,067 (GRCm39) |
D498V |
probably damaging |
Het |
Itk |
G |
A |
11: 46,280,285 (GRCm39) |
|
probably benign |
Het |
Kdm3b |
T |
A |
18: 34,928,716 (GRCm39) |
|
probably benign |
Het |
Klhl6 |
A |
G |
16: 19,766,984 (GRCm39) |
V470A |
probably benign |
Het |
Lamb3 |
T |
A |
1: 193,002,839 (GRCm39) |
W95R |
probably damaging |
Het |
Lbhd2 |
T |
A |
12: 111,376,676 (GRCm39) |
I41N |
probably damaging |
Het |
Lrp4 |
A |
T |
2: 91,321,015 (GRCm39) |
S1014C |
probably damaging |
Het |
Ltbp2 |
C |
T |
12: 84,832,743 (GRCm39) |
|
probably null |
Het |
Map3k19 |
A |
G |
1: 127,749,919 (GRCm39) |
I1144T |
possibly damaging |
Het |
Mfsd10 |
T |
C |
5: 34,792,507 (GRCm39) |
|
probably benign |
Het |
Mocos |
A |
G |
18: 24,799,333 (GRCm39) |
D189G |
probably benign |
Het |
Mvb12a |
T |
A |
8: 71,999,654 (GRCm39) |
F224L |
probably damaging |
Het |
Myo15a |
A |
T |
11: 60,405,723 (GRCm39) |
|
probably null |
Het |
Nos2 |
A |
T |
11: 78,828,428 (GRCm39) |
H249L |
probably damaging |
Het |
Notum |
A |
G |
11: 120,549,160 (GRCm39) |
M184T |
probably benign |
Het |
Nvl |
C |
A |
1: 180,962,395 (GRCm39) |
D192Y |
probably damaging |
Het |
Or10j3 |
A |
G |
1: 173,031,484 (GRCm39) |
K187R |
probably benign |
Het |
Or4f57 |
T |
C |
2: 111,790,839 (GRCm39) |
Y193C |
probably damaging |
Het |
Or5ac22 |
A |
T |
16: 59,135,434 (GRCm39) |
F112Y |
probably damaging |
Het |
Or5m12 |
T |
A |
2: 85,734,591 (GRCm39) |
N269I |
probably benign |
Het |
Or8k27 |
C |
A |
2: 86,276,303 (GRCm39) |
V8L |
probably benign |
Het |
Osgin1 |
A |
G |
8: 120,172,396 (GRCm39) |
I397V |
possibly damaging |
Het |
Otulin |
A |
G |
15: 27,616,510 (GRCm39) |
V123A |
probably damaging |
Het |
P4ha1 |
A |
G |
10: 59,184,081 (GRCm39) |
Y181C |
probably damaging |
Het |
Pcdhgc5 |
A |
T |
18: 37,954,403 (GRCm39) |
D559V |
probably damaging |
Het |
Phf2 |
T |
C |
13: 48,982,270 (GRCm39) |
N151S |
unknown |
Het |
Plxnc1 |
C |
A |
10: 94,648,991 (GRCm39) |
G1263C |
probably benign |
Het |
Rad51ap1 |
A |
G |
6: 126,901,160 (GRCm39) |
*338Q |
probably null |
Het |
Raver1 |
A |
G |
9: 20,986,955 (GRCm39) |
S676P |
probably benign |
Het |
Rfx8 |
T |
C |
1: 39,727,737 (GRCm39) |
E196G |
possibly damaging |
Het |
Rreb1 |
A |
T |
13: 38,100,131 (GRCm39) |
K187* |
probably null |
Het |
Rxfp1 |
T |
C |
3: 79,574,961 (GRCm39) |
T217A |
probably benign |
Het |
Rxra |
T |
C |
2: 27,642,442 (GRCm39) |
L305P |
probably damaging |
Het |
Sardh |
T |
C |
2: 27,117,078 (GRCm39) |
|
probably benign |
Het |
Skor2 |
A |
T |
18: 76,964,293 (GRCm39) |
E952D |
probably damaging |
Het |
Slc22a29 |
A |
T |
19: 8,147,334 (GRCm39) |
S343T |
probably benign |
Het |
Sorbs2 |
T |
C |
8: 46,238,374 (GRCm39) |
|
probably benign |
Het |
Supt7l |
C |
T |
5: 31,673,262 (GRCm39) |
V329I |
probably benign |
Het |
Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
Tac1 |
T |
C |
6: 7,559,165 (GRCm39) |
|
probably benign |
Het |
Tcn2 |
A |
T |
11: 3,872,044 (GRCm39) |
V361D |
probably damaging |
Het |
Tm2d3 |
G |
A |
7: 65,347,582 (GRCm39) |
A170T |
possibly damaging |
Het |
Tnks |
G |
A |
8: 35,307,124 (GRCm39) |
R1142* |
probably null |
Het |
Ttll7 |
C |
A |
3: 146,649,915 (GRCm39) |
Y648* |
probably null |
Het |
Umod |
G |
T |
7: 119,065,296 (GRCm39) |
Q578K |
probably benign |
Het |
Upf2 |
G |
A |
2: 6,032,015 (GRCm39) |
|
probably benign |
Het |
Vmn2r92 |
C |
T |
17: 18,388,219 (GRCm39) |
A408V |
probably damaging |
Het |
Washc5 |
A |
G |
15: 59,210,809 (GRCm39) |
I1013T |
probably benign |
Het |
Zfp704 |
C |
A |
3: 9,630,217 (GRCm39) |
R48L |
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 |
|
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 |
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'- TTTAAAGAGCAAGACAGGTGAGCCC -3'
(R):5'- ACTTCATAAGGTTGGCGAGACGTG -3'
Sequencing Primer
(F):5'- GGCCCTCAAGAAATCTTGGTG -3'
(R):5'- TGCACTTAAAAAACAAACCTACGC -3'
|
Posted On |
2013-05-09 |