Incidental Mutation 'R9200:Itga1'
ID |
698189 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Itga1
|
Ensembl Gene |
ENSMUSG00000042284 |
Gene Name |
integrin alpha 1 |
Synonyms |
E130012M19Rik, CD49A, Vla1 |
MMRRC Submission |
068957-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.254)
|
Stock # |
R9200 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
115094615-115238500 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 115104997 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 1059
(I1059N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000077132
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061673]
|
AlphaFold |
Q3V3R4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061673
AA Change: I1059N
PolyPhen 2
Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000077132 Gene: ENSMUSG00000042284 AA Change: I1059N
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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
99% (71/72) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm2 |
C |
A |
7: 119,179,839 (GRCm39) |
Y352* |
probably null |
Het |
Adh7 |
C |
T |
3: 137,927,567 (GRCm39) |
R38C |
probably benign |
Het |
Ankrd2 |
A |
T |
19: 42,028,871 (GRCm39) |
T145S |
|
Het |
Anpep |
T |
C |
7: 79,490,870 (GRCm39) |
N241D |
probably benign |
Het |
Apaf1 |
G |
A |
10: 90,845,102 (GRCm39) |
L990F |
probably benign |
Het |
Arsi |
A |
G |
18: 61,049,836 (GRCm39) |
T240A |
possibly damaging |
Het |
Ascc3 |
A |
G |
10: 50,521,787 (GRCm39) |
E434G |
possibly damaging |
Het |
Atp2c2 |
A |
T |
8: 120,474,999 (GRCm39) |
K535* |
probably null |
Het |
B3galt4 |
A |
G |
17: 34,170,384 (GRCm39) |
|
probably benign |
Het |
Brwd1 |
C |
G |
16: 95,839,154 (GRCm39) |
C839S |
probably benign |
Het |
Cars1 |
C |
T |
7: 143,129,654 (GRCm39) |
|
probably null |
Het |
Catsperd |
T |
A |
17: 56,935,229 (GRCm39) |
V14D |
unknown |
Het |
Ccdc150 |
A |
C |
1: 54,299,197 (GRCm39) |
T58P |
probably damaging |
Het |
Cdhr17 |
T |
C |
5: 17,006,659 (GRCm39) |
|
probably null |
Het |
Cdon |
A |
G |
9: 35,414,617 (GRCm39) |
D1164G |
probably benign |
Het |
Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
Cic |
A |
C |
7: 24,971,940 (GRCm39) |
D557A |
probably damaging |
Het |
Clip4 |
G |
A |
17: 72,117,884 (GRCm39) |
G310R |
probably damaging |
Het |
Dach1 |
G |
T |
14: 98,065,743 (GRCm39) |
R695S |
probably damaging |
Het |
Ddc |
T |
C |
11: 11,765,388 (GRCm39) |
N428S |
possibly damaging |
Het |
Dnah6 |
G |
A |
6: 73,004,497 (GRCm39) |
T3822I |
probably benign |
Het |
Dnmt1 |
T |
A |
9: 20,819,896 (GRCm39) |
M1535L |
probably benign |
Het |
Edc4 |
T |
C |
8: 106,617,051 (GRCm39) |
|
probably null |
Het |
Emilin2 |
A |
G |
17: 71,581,229 (GRCm39) |
I499T |
possibly damaging |
Het |
Etl4 |
A |
G |
2: 20,786,702 (GRCm39) |
D766G |
probably damaging |
Het |
Fes |
T |
C |
7: 80,032,140 (GRCm39) |
Q414R |
probably benign |
Het |
Fhod1 |
A |
G |
8: 106,058,072 (GRCm39) |
V844A |
probably benign |
Het |
Fshr |
A |
T |
17: 89,354,103 (GRCm39) |
V85E |
probably benign |
Het |
Gc |
T |
C |
5: 89,593,236 (GRCm39) |
N61S |
probably benign |
Het |
Hapstr1 |
T |
C |
16: 8,673,898 (GRCm39) |
L275P |
possibly damaging |
Het |
Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
Itpr3 |
T |
A |
17: 27,326,636 (GRCm39) |
V1426E |
probably damaging |
Het |
Jag1 |
T |
A |
2: 136,929,044 (GRCm39) |
Y804F |
probably benign |
Het |
Lama3 |
A |
G |
18: 12,605,297 (GRCm39) |
T1084A |
probably benign |
Het |
Mdn1 |
A |
G |
4: 32,760,791 (GRCm39) |
D4952G |
probably benign |
Het |
Mmrn1 |
A |
G |
6: 60,953,860 (GRCm39) |
T714A |
probably damaging |
Het |
Nab1 |
T |
A |
1: 52,529,525 (GRCm39) |
H124L |
possibly damaging |
Het |
Nacc2 |
A |
G |
2: 25,980,118 (GRCm39) |
F106S |
probably damaging |
Het |
Nbeal1 |
T |
C |
1: 60,320,425 (GRCm39) |
I2006T |
probably damaging |
Het |
Nkpd1 |
C |
A |
7: 19,257,683 (GRCm39) |
H487Q |
probably benign |
Het |
Nop2 |
G |
A |
6: 125,117,843 (GRCm39) |
|
probably null |
Het |
Or10ag54 |
T |
A |
2: 87,100,055 (GRCm39) |
M310K |
probably benign |
Het |
Or5b124 |
A |
G |
19: 13,610,595 (GRCm39) |
N40S |
probably damaging |
Het |
Otud6b |
A |
T |
4: 14,811,712 (GRCm39) |
Y310* |
probably null |
Het |
Phyh |
A |
T |
2: 4,932,247 (GRCm39) |
Y111F |
probably benign |
Het |
Pon3 |
A |
G |
6: 5,240,863 (GRCm39) |
L106P |
probably benign |
Het |
Ppp6r3 |
T |
C |
19: 3,519,748 (GRCm39) |
D615G |
probably damaging |
Het |
Pramel23 |
G |
A |
4: 143,423,856 (GRCm39) |
P311L |
possibly damaging |
Het |
Prdm10 |
G |
A |
9: 31,268,438 (GRCm39) |
V796I |
probably damaging |
Het |
Prkdc |
G |
T |
16: 15,523,153 (GRCm39) |
V1192F |
probably damaging |
Het |
R3hdm2 |
T |
G |
10: 127,293,521 (GRCm39) |
S142A |
probably damaging |
Het |
Rab39 |
T |
C |
9: 53,597,665 (GRCm39) |
N200S |
probably benign |
Het |
Rcc2 |
A |
G |
4: 140,445,664 (GRCm39) |
I441V |
probably benign |
Het |
Rxra |
G |
A |
2: 27,627,496 (GRCm39) |
V72I |
possibly damaging |
Het |
Ryr1 |
T |
G |
7: 28,794,524 (GRCm39) |
Q1252P |
probably benign |
Het |
Sectm1a |
T |
C |
11: 120,960,473 (GRCm39) |
Y114C |
probably damaging |
Het |
Smim1 |
T |
C |
4: 154,108,276 (GRCm39) |
|
probably null |
Het |
Smpd2 |
C |
T |
10: 41,363,561 (GRCm39) |
D301N |
probably benign |
Het |
Smyd3 |
T |
C |
1: 179,232,963 (GRCm39) |
D139G |
probably benign |
Het |
Sox13 |
C |
T |
1: 133,313,743 (GRCm39) |
C399Y |
probably damaging |
Het |
Tars3 |
A |
G |
7: 65,302,013 (GRCm39) |
E179G |
probably benign |
Het |
Tas2r138 |
A |
G |
6: 40,589,494 (GRCm39) |
F251L |
probably damaging |
Het |
Tesk1 |
A |
G |
4: 43,447,307 (GRCm39) |
E565G |
probably damaging |
Het |
Tm2d1 |
A |
T |
4: 98,246,200 (GRCm39) |
F201I |
possibly damaging |
Het |
Tom1l2 |
C |
A |
11: 60,120,942 (GRCm39) |
D501Y |
probably benign |
Het |
Trim39 |
G |
T |
17: 36,579,667 (GRCm39) |
T96K |
probably benign |
Het |
Ubash3a |
A |
G |
17: 31,436,971 (GRCm39) |
H196R |
probably damaging |
Het |
Unc13b |
A |
G |
4: 43,257,352 (GRCm39) |
E1206G |
possibly damaging |
Het |
Usp17lc |
A |
T |
7: 103,068,105 (GRCm39) |
T467S |
probably benign |
Het |
Vmn1r128 |
T |
C |
7: 21,083,316 (GRCm39) |
S7P |
possibly damaging |
Het |
Vmn1r185 |
T |
A |
7: 26,311,073 (GRCm39) |
H144L |
possibly damaging |
Het |
Wfdc6b |
A |
T |
2: 164,455,708 (GRCm39) |
R12S |
possibly damaging |
Het |
Zmynd8 |
A |
T |
2: 165,682,005 (GRCm39) |
D175E |
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 |
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 |
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'- TCACTTGACTCACATCCGAGG -3'
(R):5'- GATCCTTCATATTACTGCACCAAC -3'
Sequencing Primer
(F):5'- ACACGTGATGGTAGCAATCTTG -3'
(R):5'- TCATATTACTGCACCAACTTATCTTG -3'
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Posted On |
2022-02-07 |