Incidental Mutation 'R6369:Itga1'
| ID |
512866 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itga1
|
| Ensembl Gene |
ENSMUSG00000042284 |
| Gene Name |
integrin alpha 1 |
| Synonyms |
CD49A, Vla1, E130012M19Rik |
| MMRRC Submission |
044519-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.358)
|
| Stock # |
R6369 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
114953096-115101964 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 114965660 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 1145
(I1145V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077132
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061673]
|
| AlphaFold |
Q3V3R4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061673
AA Change: I1145V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000077132
Gene: ENSMUSG00000042284
AA Change: I1145V
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
98% (54/55) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
C |
T |
17: 13,835,343 (GRCm38) |
R571* |
probably null |
Het |
| Asb18 |
A |
T |
1: 90,014,471 (GRCm38) |
I36N |
probably damaging |
Het |
| Ascc3 |
G |
A |
10: 50,699,985 (GRCm38) |
G779S |
probably damaging |
Het |
| Atl2 |
T |
C |
17: 79,854,555 (GRCm38) |
Q205R |
probably damaging |
Het |
| Axdnd1 |
A |
G |
1: 156,392,745 (GRCm38) |
I235T |
probably damaging |
Het |
| Bri3bp |
A |
G |
5: 125,454,701 (GRCm38) |
N237S |
probably damaging |
Het |
| Ccdc191 |
A |
G |
16: 43,915,485 (GRCm38) |
N256S |
probably benign |
Het |
| Cchcr1 |
T |
C |
17: 35,528,176 (GRCm38) |
I474T |
probably damaging |
Het |
| Cd209c |
T |
C |
8: 3,944,984 (GRCm38) |
Y60C |
probably damaging |
Het |
| Cd300c |
C |
A |
11: 114,957,555 (GRCm38) |
D171Y |
probably damaging |
Het |
| Crb1 |
C |
T |
1: 139,237,462 (GRCm38) |
V975M |
probably damaging |
Het |
| Csmd1 |
C |
T |
8: 17,535,004 (GRCm38) |
|
probably benign |
Het |
| Ctnna2 |
A |
G |
6: 76,980,695 (GRCm38) |
S524P |
possibly damaging |
Het |
| Eno1 |
T |
C |
4: 150,239,568 (GRCm38) |
|
probably null |
Het |
| Ero1l |
T |
C |
14: 45,299,958 (GRCm38) |
I170M |
probably damaging |
Het |
| Fam186a |
A |
G |
15: 99,947,331 (GRCm38) |
M344T |
unknown |
Het |
| Frem1 |
A |
T |
4: 82,913,792 (GRCm38) |
|
probably null |
Het |
| Gjb5 |
G |
T |
4: 127,355,930 (GRCm38) |
D140E |
possibly damaging |
Het |
| Gm11595 |
G |
A |
11: 99,772,555 (GRCm38) |
R100C |
unknown |
Het |
| Hk2 |
G |
T |
6: 82,736,753 (GRCm38) |
S449R |
probably damaging |
Het |
| Hs3st3a1 |
A |
T |
11: 64,520,601 (GRCm38) |
I322F |
probably benign |
Het |
| Kcp |
A |
G |
6: 29,484,694 (GRCm38) |
L1295S |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,410,562 (GRCm38) |
D49G |
possibly damaging |
Het |
| Mef2b |
T |
A |
8: 70,165,559 (GRCm38) |
D96E |
probably benign |
Het |
| Megf10 |
A |
T |
18: 57,261,187 (GRCm38) |
D461V |
probably benign |
Het |
| Myom1 |
T |
C |
17: 71,101,076 (GRCm38) |
S1104P |
probably damaging |
Het |
| Nab1 |
A |
G |
1: 52,490,222 (GRCm38) |
L172P |
probably damaging |
Het |
| Olfr123 |
T |
G |
17: 37,795,496 (GRCm38) |
D17E |
probably benign |
Het |
| Pate1 |
A |
G |
9: 35,687,028 (GRCm38) |
V18A |
probably benign |
Het |
| Pink1 |
T |
C |
4: 138,320,734 (GRCm38) |
|
probably null |
Het |
| Pnpla1 |
T |
A |
17: 28,878,481 (GRCm38) |
I207N |
probably damaging |
Het |
| Ppp1r12b |
T |
C |
1: 134,886,542 (GRCm38) |
E341G |
possibly damaging |
Het |
| Ppp1r21 |
C |
A |
17: 88,582,412 (GRCm38) |
|
probably null |
Het |
| Rad52 |
A |
G |
6: 119,914,207 (GRCm38) |
E76G |
unknown |
Het |
| Rad54l |
A |
G |
4: 116,111,189 (GRCm38) |
|
probably null |
Het |
| Rasgrf2 |
T |
C |
13: 92,131,446 (GRCm38) |
M17V |
probably benign |
Het |
| Rbm42 |
A |
G |
7: 30,641,313 (GRCm38) |
M411T |
unknown |
Het |
| Reln |
A |
G |
5: 22,051,361 (GRCm38) |
I495T |
probably benign |
Het |
| Rnf224 |
A |
G |
2: 25,235,942 (GRCm38) |
F133S |
probably damaging |
Het |
| Rrm1 |
C |
A |
7: 102,446,702 (GRCm38) |
H87Q |
probably damaging |
Het |
| Sec14l2 |
T |
C |
11: 4,103,962 (GRCm38) |
D235G |
possibly damaging |
Het |
| Serpinb3d |
G |
T |
1: 107,080,753 (GRCm38) |
N127K |
probably benign |
Het |
| Skint7 |
A |
T |
4: 111,980,293 (GRCm38) |
E89D |
probably benign |
Het |
| Slc22a5 |
T |
G |
11: 53,891,370 (GRCm38) |
N57T |
probably damaging |
Het |
| Smarcd3 |
A |
T |
5: 24,594,984 (GRCm38) |
F263I |
probably damaging |
Het |
| Sncaip |
A |
G |
18: 52,868,604 (GRCm38) |
I66V |
probably damaging |
Het |
| Syngr1 |
A |
C |
15: 80,115,590 (GRCm38) |
|
probably benign |
Het |
| Tbc1d2 |
A |
G |
4: 46,614,420 (GRCm38) |
Y554H |
probably benign |
Het |
| Tmem198 |
T |
C |
1: 75,479,743 (GRCm38) |
V44A |
probably benign |
Het |
| Trappc11 |
T |
C |
8: 47,512,285 (GRCm38) |
|
probably null |
Het |
| Uox |
C |
T |
3: 146,624,577 (GRCm38) |
R163* |
probably null |
Het |
| Vmn2r111 |
C |
T |
17: 22,548,602 (GRCm38) |
C638Y |
probably damaging |
Het |
| Washc4 |
A |
G |
10: 83,574,444 (GRCm38) |
Y632C |
probably damaging |
Het |
| Zfp212 |
T |
C |
6: 47,930,897 (GRCm38) |
V270A |
probably benign |
Het |
| Zfp92 |
G |
A |
X: 73,421,968 (GRCm38) |
R189H |
possibly damaging |
Homo |
|
| Other mutations in Itga1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00264:Itga1
|
APN |
13 |
114,992,363 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
IGL00498:Itga1
|
APN |
13 |
115,031,193 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00549:Itga1
|
APN |
13 |
115,049,296 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL00587:Itga1
|
APN |
13 |
115,012,249 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01021:Itga1
|
APN |
13 |
114,997,000 (GRCm38) |
missense |
probably benign |
0.29 |
|
IGL01289:Itga1
|
APN |
13 |
114,986,226 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
IGL01636:Itga1
|
APN |
13 |
115,006,948 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
IGL01791:Itga1
|
APN |
13 |
114,987,661 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01796:Itga1
|
APN |
13 |
114,985,121 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02027:Itga1
|
APN |
13 |
114,990,055 (GRCm38) |
splice site |
probably null |
|
|
IGL02330:Itga1
|
APN |
13 |
115,012,204 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02480:Itga1
|
APN |
13 |
114,987,648 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02943:Itga1
|
APN |
13 |
115,049,296 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R0103:Itga1
|
UTSW |
13 |
115,016,254 (GRCm38) |
missense |
probably benign |
0.40 |
|
R0103:Itga1
|
UTSW |
13 |
115,016,254 (GRCm38) |
missense |
probably benign |
0.40 |
|
R0244:Itga1
|
UTSW |
13 |
115,006,897 (GRCm38) |
splice site |
probably benign |
|
|
R0265:Itga1
|
UTSW |
13 |
114,992,459 (GRCm38) |
missense |
probably benign |
|
|
R0302:Itga1
|
UTSW |
13 |
115,012,318 (GRCm38) |
splice site |
probably benign |
|
|
R0320:Itga1
|
UTSW |
13 |
114,977,594 (GRCm38) |
splice site |
probably benign |
|
|
R0389:Itga1
|
UTSW |
13 |
114,992,460 (GRCm38) |
missense |
probably benign |
0.04 |
|
R0443:Itga1
|
UTSW |
13 |
114,992,460 (GRCm38) |
missense |
probably benign |
0.04 |
|
R0574:Itga1
|
UTSW |
13 |
114,966,561 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0646:Itga1
|
UTSW |
13 |
114,968,299 (GRCm38) |
missense |
probably benign |
|
|
R0830:Itga1
|
UTSW |
13 |
115,007,032 (GRCm38) |
missense |
probably benign |
0.08 |
|
R2162:Itga1
|
UTSW |
13 |
115,030,910 (GRCm38) |
missense |
probably benign |
0.23 |
|
R2216:Itga1
|
UTSW |
13 |
114,997,029 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2403:Itga1
|
UTSW |
13 |
114,977,614 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3734:Itga1
|
UTSW |
13 |
114,977,639 (GRCm38) |
missense |
probably benign |
|
|
R4171:Itga1
|
UTSW |
13 |
115,030,886 (GRCm38) |
nonsense |
probably null |
|
|
R4402:Itga1
|
UTSW |
13 |
115,001,566 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4675:Itga1
|
UTSW |
13 |
115,001,691 (GRCm38) |
splice site |
probably null |
|
|
R4684:Itga1
|
UTSW |
13 |
115,049,370 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4795:Itga1
|
UTSW |
13 |
115,035,385 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4796:Itga1
|
UTSW |
13 |
115,035,385 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4845:Itga1
|
UTSW |
13 |
114,974,172 (GRCm38) |
nonsense |
probably null |
|
|
R5147:Itga1
|
UTSW |
13 |
114,985,142 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R5155:Itga1
|
UTSW |
13 |
115,035,303 (GRCm38) |
missense |
probably benign |
|
|
R5234:Itga1
|
UTSW |
13 |
115,049,303 (GRCm38) |
nonsense |
probably null |
|
|
R5344:Itga1
|
UTSW |
13 |
115,002,309 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R5554:Itga1
|
UTSW |
13 |
114,992,474 (GRCm38) |
nonsense |
probably null |
|
|
R5662:Itga1
|
UTSW |
13 |
114,986,171 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5945:Itga1
|
UTSW |
13 |
114,966,590 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6150:Itga1
|
UTSW |
13 |
114,968,233 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6241:Itga1
|
UTSW |
13 |
114,960,137 (GRCm38) |
splice site |
probably null |
|
|
R6276:Itga1
|
UTSW |
13 |
114,980,852 (GRCm38) |
missense |
probably benign |
|
|
R6511:Itga1
|
UTSW |
13 |
114,992,501 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6663:Itga1
|
UTSW |
13 |
114,974,105 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6783:Itga1
|
UTSW |
13 |
114,996,977 (GRCm38) |
missense |
probably benign |
0.22 |
|
R6931:Itga1
|
UTSW |
13 |
115,001,563 (GRCm38) |
missense |
probably benign |
0.39 |
|
R7069:Itga1
|
UTSW |
13 |
114,968,240 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7458:Itga1
|
UTSW |
13 |
114,986,266 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7588:Itga1
|
UTSW |
13 |
114,968,249 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R7591:Itga1
|
UTSW |
13 |
114,982,779 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7597:Itga1
|
UTSW |
13 |
114,974,140 (GRCm38) |
missense |
probably benign |
0.28 |
|
R7615:Itga1
|
UTSW |
13 |
114,996,922 (GRCm38) |
missense |
probably null |
0.99 |
|
R7756:Itga1
|
UTSW |
13 |
114,992,460 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7795:Itga1
|
UTSW |
13 |
115,012,236 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7819:Itga1
|
UTSW |
13 |
115,049,301 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8193:Itga1
|
UTSW |
13 |
114,968,455 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8313:Itga1
|
UTSW |
13 |
114,966,584 (GRCm38) |
missense |
probably benign |
0.06 |
|
R8419:Itga1
|
UTSW |
13 |
115,007,068 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8925:Itga1
|
UTSW |
13 |
114,968,519 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8927:Itga1
|
UTSW |
13 |
114,968,519 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8951:Itga1
|
UTSW |
13 |
114,970,491 (GRCm38) |
nonsense |
probably null |
|
|
R9099:Itga1
|
UTSW |
13 |
115,049,320 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9200:Itga1
|
UTSW |
13 |
114,968,461 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R9221:Itga1
|
UTSW |
13 |
115,030,159 (GRCm38) |
nonsense |
probably null |
|
|
R9249:Itga1
|
UTSW |
13 |
115,049,298 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9267:Itga1
|
UTSW |
13 |
115,049,388 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R9376:Itga1
|
UTSW |
13 |
114,970,576 (GRCm38) |
missense |
probably benign |
0.07 |
|
R9481:Itga1
|
UTSW |
13 |
115,016,217 (GRCm38) |
missense |
probably benign |
0.34 |
|
R9789:Itga1
|
UTSW |
13 |
115,035,284 (GRCm38) |
nonsense |
probably null |
|
|
Z1177:Itga1
|
UTSW |
13 |
114,985,071 (GRCm38) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTTCTCACATGAAAGCTTGCAC -3'
(R):5'- AAACTCTGTTTCGAACTGCTCTAC -3'
Sequencing Primer
(F):5'- GCTTGCACTTTATTATGTACGAGAGC -3'
(R):5'- TGAAAGGCATTCTCAAACGTAAAC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation