Incidental Mutation 'R9221:Itga1'
| ID |
699487 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itga1
|
| Ensembl Gene |
ENSMUSG00000042284 |
| Gene Name |
integrin alpha 1 |
| Synonyms |
E130012M19Rik, CD49A, Vla1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.254)
|
| Stock # |
R9221 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
115094615-115238500 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 115166695 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 167
(C167*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077132
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061673]
|
| AlphaFold |
Q3V3R4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000061673
AA Change: C167*
|
| SMART Domains |
Protein: ENSMUSP00000077132
Gene: ENSMUSG00000042284
AA Change: C167*
| 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: 99.5%
- 20x: 98.2%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,921,828 (GRCm39) |
D1128G |
probably damaging |
Het |
| Acsm3 |
A |
T |
7: 119,368,131 (GRCm39) |
R116* |
probably null |
Het |
| Acte1 |
G |
T |
7: 143,434,902 (GRCm39) |
|
probably null |
Het |
| Ahnak |
T |
A |
19: 8,989,943 (GRCm39) |
D3742E |
probably damaging |
Het |
| Arhgef17 |
A |
G |
7: 100,528,818 (GRCm39) |
S598P |
possibly damaging |
Het |
| Asxl2 |
T |
C |
12: 3,552,310 (GRCm39) |
F1351L |
probably damaging |
Het |
| Atg7 |
C |
T |
6: 114,672,588 (GRCm39) |
T267I |
possibly damaging |
Het |
| Bace2 |
A |
G |
16: 97,209,692 (GRCm39) |
K202R |
probably benign |
Het |
| Bccip |
G |
T |
7: 133,311,249 (GRCm39) |
V55L |
probably benign |
Het |
| Bpifa1 |
T |
A |
2: 153,988,052 (GRCm39) |
H198Q |
possibly damaging |
Het |
| Btbd7 |
A |
G |
12: 102,777,430 (GRCm39) |
Y466H |
probably damaging |
Het |
| Cdc45 |
A |
C |
16: 18,605,521 (GRCm39) |
S480A |
probably benign |
Het |
| Cenpe |
T |
C |
3: 134,935,839 (GRCm39) |
Y425H |
possibly damaging |
Het |
| Cep76 |
A |
C |
18: 67,767,977 (GRCm39) |
M185R |
probably damaging |
Het |
| Chd5 |
G |
T |
4: 152,456,122 (GRCm39) |
M930I |
probably damaging |
Het |
| Clstn2 |
G |
T |
9: 97,343,395 (GRCm39) |
T684K |
probably benign |
Het |
| Col4a2 |
A |
G |
8: 11,491,943 (GRCm39) |
N1270S |
possibly damaging |
Het |
| Crxos |
A |
G |
7: 15,636,850 (GRCm39) |
H141R |
probably benign |
Het |
| Dcc |
A |
G |
18: 71,553,433 (GRCm39) |
I741T |
possibly damaging |
Het |
| Ddx20 |
A |
T |
3: 105,587,685 (GRCm39) |
C430* |
probably null |
Het |
| Dgki |
G |
A |
6: 37,273,615 (GRCm39) |
T12M |
probably benign |
Het |
| Dock6 |
T |
C |
9: 21,721,153 (GRCm39) |
N1676S |
possibly damaging |
Het |
| Exosc6 |
G |
A |
8: 111,783,028 (GRCm39) |
R9H |
probably damaging |
Het |
| Fstl5 |
A |
G |
3: 76,569,114 (GRCm39) |
Q589R |
probably damaging |
Het |
| Gm4846 |
T |
A |
1: 166,324,959 (GRCm39) |
Y44F |
probably benign |
Het |
| Gpr15lg |
A |
G |
14: 36,829,352 (GRCm39) |
S44P |
probably damaging |
Het |
| Gtf3c2 |
A |
C |
5: 31,326,401 (GRCm39) |
I370R |
probably damaging |
Het |
| Hjurp |
CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT |
C |
1: 88,193,999 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
A |
G |
4: 137,287,726 (GRCm39) |
M3696V |
possibly damaging |
Het |
| Khdc4 |
T |
C |
3: 88,593,853 (GRCm39) |
S81P |
probably benign |
Het |
| Kpna2 |
A |
G |
11: 106,880,158 (GRCm39) |
S497P |
probably damaging |
Het |
| Krt77 |
T |
A |
15: 101,774,064 (GRCm39) |
T197S |
probably damaging |
Het |
| Krtap6-5 |
T |
C |
16: 88,844,655 (GRCm39) |
Y26C |
unknown |
Het |
| Lhfpl5 |
A |
T |
17: 28,799,133 (GRCm39) |
D214V |
possibly damaging |
Het |
| Lrrtm1 |
A |
G |
6: 77,221,596 (GRCm39) |
E351G |
probably damaging |
Het |
| Mphosph9 |
A |
G |
5: 124,403,427 (GRCm39) |
V867A |
probably benign |
Het |
| Mtcl1 |
T |
A |
17: 66,650,879 (GRCm39) |
M1529L |
probably benign |
Het |
| Mthfr |
A |
T |
4: 148,132,626 (GRCm39) |
Q268L |
probably damaging |
Het |
| Myo1d |
A |
T |
11: 80,565,744 (GRCm39) |
N360K |
probably damaging |
Het |
| Nbea |
AC |
A |
3: 55,998,393 (GRCm39) |
|
probably null |
Het |
| Or1e33 |
A |
T |
11: 73,738,108 (GRCm39) |
V281E |
probably damaging |
Het |
| Or4p8 |
T |
C |
2: 88,727,255 (GRCm39) |
S229G |
probably benign |
Het |
| Or5an1b |
A |
T |
19: 12,299,336 (GRCm39) |
M285K |
probably damaging |
Het |
| Or5m11 |
T |
A |
2: 85,782,185 (GRCm39) |
Y259* |
probably null |
Het |
| P2rx5 |
A |
T |
11: 73,062,655 (GRCm39) |
T455S |
probably damaging |
Het |
| Palld |
A |
T |
8: 61,969,591 (GRCm39) |
F1244L |
unknown |
Het |
| Pbld1 |
A |
G |
10: 62,907,829 (GRCm39) |
T125A |
|
Het |
| Pde3b |
G |
A |
7: 114,014,697 (GRCm39) |
|
probably benign |
Het |
| Pfkm |
T |
C |
15: 98,019,188 (GRCm39) |
S180P |
probably damaging |
Het |
| Pla2g4d |
T |
A |
2: 120,100,453 (GRCm39) |
R626S |
possibly damaging |
Het |
| Postn |
A |
G |
3: 54,282,515 (GRCm39) |
E492G |
possibly damaging |
Het |
| Prph2 |
A |
G |
17: 47,230,818 (GRCm39) |
D237G |
probably damaging |
Het |
| Psmd4 |
T |
C |
3: 94,942,604 (GRCm39) |
H105R |
probably damaging |
Het |
| Pygl |
T |
C |
12: 70,242,401 (GRCm39) |
N685S |
probably damaging |
Het |
| Rp1 |
A |
G |
1: 4,315,266 (GRCm39) |
F502S |
unknown |
Het |
| Sik1 |
T |
C |
17: 32,066,167 (GRCm39) |
I607V |
probably benign |
Het |
| Slc26a3 |
T |
A |
12: 31,513,470 (GRCm39) |
I464N |
possibly damaging |
Het |
| Slc38a9 |
A |
G |
13: 112,825,910 (GRCm39) |
N116S |
probably damaging |
Het |
| Sorcs2 |
C |
A |
5: 36,181,910 (GRCm39) |
|
probably null |
Het |
| Spink5 |
T |
C |
18: 44,119,367 (GRCm39) |
L226P |
probably damaging |
Het |
| Tab1 |
G |
A |
15: 80,034,754 (GRCm39) |
V180I |
probably benign |
Het |
| Tacc2 |
T |
G |
7: 130,226,058 (GRCm39) |
S914R |
probably damaging |
Het |
| Tacc2 |
C |
T |
7: 130,226,209 (GRCm39) |
R965C |
probably benign |
Het |
| Tlr9 |
A |
G |
9: 106,101,972 (GRCm39) |
D421G |
probably damaging |
Het |
| Tmem181a |
T |
C |
17: 6,307,265 (GRCm39) |
L16P |
probably damaging |
Het |
| Trim58 |
A |
T |
11: 58,542,075 (GRCm39) |
H345L |
probably damaging |
Het |
| Ttc13 |
G |
A |
8: 125,400,290 (GRCm39) |
R688C |
probably benign |
Het |
| Ube2o |
C |
A |
11: 116,433,664 (GRCm39) |
V685L |
probably damaging |
Het |
| Uso1 |
A |
G |
5: 92,335,173 (GRCm39) |
H511R |
probably benign |
Het |
| Vmn2r5 |
A |
T |
3: 64,411,721 (GRCm39) |
Y282* |
probably null |
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 |
|
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 |
|
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'- GGAGCTACTCAAACACTTGCC -3'
(R):5'- GGGGCACATTCTATGATACAAATTC -3'
Sequencing Primer
(F):5'- GCTACTCAAACACTTGCCCAGTC -3'
(R):5'- GTGAGCGCCTCTTTTAG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation