Incidental Mutation 'R5234:Itga1'
ID |
398242 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Itga1
|
Ensembl Gene |
ENSMUSG00000042284 |
Gene Name |
integrin alpha 1 |
Synonyms |
E130012M19Rik, CD49A, Vla1 |
MMRRC Submission |
042806-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.254)
|
Stock # |
R5234 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
115094615-115238500 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 115185839 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 54
(Y54*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000077132
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061673]
[ENSMUST00000224495]
|
AlphaFold |
Q3V3R4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000061673
AA Change: Y54*
|
SMART Domains |
Protein: ENSMUSP00000077132 Gene: ENSMUSG00000042284 AA Change: Y54*
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: 97.1%
- 20x: 95.1%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
G |
A |
1: 71,302,823 (GRCm39) |
T2132M |
probably damaging |
Het |
Abca8b |
A |
T |
11: 109,867,420 (GRCm39) |
F213I |
possibly damaging |
Het |
Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
Adamts6 |
A |
G |
13: 104,630,130 (GRCm39) |
Y1091C |
probably damaging |
Het |
Adamtsl4 |
T |
C |
3: 95,588,230 (GRCm39) |
M586V |
probably benign |
Het |
Anapc4 |
T |
C |
5: 53,006,118 (GRCm39) |
S336P |
probably damaging |
Het |
Atp1a4 |
A |
T |
1: 172,054,737 (GRCm39) |
I964K |
possibly damaging |
Het |
Bcan |
A |
T |
3: 87,903,453 (GRCm39) |
D246E |
probably damaging |
Het |
Ccnf |
G |
A |
17: 24,453,411 (GRCm39) |
R343* |
probably null |
Het |
Col6a5 |
T |
C |
9: 105,741,404 (GRCm39) |
H2505R |
probably damaging |
Het |
Dlg5 |
T |
A |
14: 24,242,930 (GRCm39) |
M72L |
probably damaging |
Het |
Dnajc18 |
T |
C |
18: 35,816,351 (GRCm39) |
T196A |
probably benign |
Het |
Dnajc19 |
T |
A |
3: 34,112,108 (GRCm39) |
I146F |
probably benign |
Het |
Espnl |
A |
G |
1: 91,272,515 (GRCm39) |
D581G |
probably benign |
Het |
Fam167a |
T |
C |
14: 63,689,787 (GRCm39) |
L28P |
probably damaging |
Het |
Fra10ac1 |
T |
C |
19: 38,204,294 (GRCm39) |
D94G |
probably damaging |
Het |
Fut8 |
A |
G |
12: 77,379,004 (GRCm39) |
H35R |
probably benign |
Het |
Gad1-ps |
T |
A |
10: 99,281,188 (GRCm39) |
|
noncoding transcript |
Het |
Garin2 |
T |
A |
12: 78,762,045 (GRCm39) |
Y236* |
probably null |
Het |
Idh2 |
A |
T |
7: 79,745,853 (GRCm39) |
V333E |
probably damaging |
Het |
Inpp5f |
A |
G |
7: 128,265,407 (GRCm39) |
I121V |
probably benign |
Het |
Lax1 |
A |
G |
1: 133,608,321 (GRCm39) |
V140A |
probably benign |
Het |
Ncoa6 |
A |
G |
2: 155,279,933 (GRCm39) |
F28L |
probably benign |
Het |
Or12e10 |
T |
C |
2: 87,641,112 (GRCm39) |
V316A |
probably benign |
Het |
Or1q1 |
T |
C |
2: 36,887,107 (GRCm39) |
V95A |
probably benign |
Het |
Polr2a |
T |
C |
11: 69,627,666 (GRCm39) |
I1414V |
probably benign |
Het |
Ppp1r14b |
A |
G |
19: 6,954,227 (GRCm39) |
E115G |
possibly damaging |
Het |
Prune2 |
A |
G |
19: 17,096,032 (GRCm39) |
D512G |
probably damaging |
Het |
Psmd11 |
A |
G |
11: 80,319,566 (GRCm39) |
I19V |
probably benign |
Het |
Pthlh |
C |
A |
6: 147,158,592 (GRCm39) |
G123W |
probably damaging |
Het |
Qars1 |
T |
A |
9: 108,391,364 (GRCm39) |
L572Q |
probably damaging |
Het |
Rubcn |
T |
C |
16: 32,656,828 (GRCm39) |
I516V |
probably damaging |
Het |
Sgsm3 |
A |
T |
15: 80,892,145 (GRCm39) |
S238C |
probably damaging |
Het |
Slc25a22 |
C |
A |
7: 141,014,116 (GRCm39) |
|
probably benign |
Het |
Slc4a1 |
G |
A |
11: 102,252,209 (GRCm39) |
R5W |
probably benign |
Het |
Tie1 |
G |
A |
4: 118,339,959 (GRCm39) |
T356I |
probably benign |
Het |
Tnn |
A |
T |
1: 159,972,569 (GRCm39) |
H344Q |
possibly damaging |
Het |
Tnrc6c |
G |
T |
11: 117,651,555 (GRCm39) |
V1693F |
probably benign |
Het |
Topaz1 |
C |
T |
9: 122,619,258 (GRCm39) |
T1285M |
possibly damaging |
Het |
Trank1 |
A |
T |
9: 111,215,535 (GRCm39) |
S1822C |
probably damaging |
Het |
Ttll11 |
A |
C |
2: 35,830,745 (GRCm39) |
Y209D |
probably damaging |
Het |
Unc45a |
C |
G |
7: 79,978,547 (GRCm39) |
A634P |
probably benign |
Het |
Vmn2r4 |
C |
T |
3: 64,305,878 (GRCm39) |
V515I |
possibly 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 |
|
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'- GCAACTACTTCCTTTAAACGTGG -3'
(R):5'- TGCTAACACTAAGAATGCCTTCC -3'
Sequencing Primer
(F):5'- CGTGGTTTAAAGTTCTAAGGAATGC -3'
(R):5'- TGCCTTCCATAATCCAAAACATAATG -3'
|
Posted On |
2016-07-06 |