Incidental Mutation 'IGL01407:Itgb1'
| ID |
79848 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Itgb1
|
| Ensembl Gene |
ENSMUSG00000025809 |
| Gene Name |
integrin beta 1 (fibronectin receptor beta) |
| Synonyms |
Gm9863, Fnrb, CD29, beta1 integrin, 4633401G24Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01407
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
129412135-129459681 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 129449315 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 578
(V578A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087457
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090006]
[ENSMUST00000124826]
|
| AlphaFold |
P09055 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090006
AA Change: V578A
PolyPhen 2
Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000087457
Gene: ENSMUSG00000025809
AA Change: V578A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
PSI
|
26 |
76 |
3.01e-7 |
SMART |
|
INB
|
34 |
464 |
2e-298 |
SMART |
|
VWA
|
142 |
372 |
1.45e0 |
SMART |
|
low complexity region
|
568 |
581 |
N/A |
INTRINSIC |
|
Pfam:EGF_2
|
599 |
630 |
8.8e-8 |
PFAM |
|
Integrin_B_tail
|
640 |
728 |
4.58e-37 |
SMART |
|
transmembrane domain
|
729 |
751 |
N/A |
INTRINSIC |
|
Integrin_b_cyt
|
752 |
798 |
3.43e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124826
|
| SMART Domains |
Protein: ENSMUSP00000120026
Gene: ENSMUSG00000025809
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
PDB:3VI4|D
|
21 |
51 |
2e-16 |
PDB |
|
Blast:PSI
|
26 |
51 |
1e-11 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149116
|
| SMART Domains |
Protein: ENSMUSP00000119699
Gene: ENSMUSG00000025809
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Integrin_B_tail
|
1 |
39 |
1.9e-12 |
PFAM |
|
transmembrane domain
|
40 |
62 |
N/A |
INTRINSIC |
|
Integrin_b_cyt
|
63 |
109 |
8.77e-25 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Integrins are heterodimeric proteins made up of alpha and beta subunits. At least 18 alpha and 8 beta subunits have been described in mammals. Integrin family members are membrane receptors involved in cell adhesion and recognition in a variety of processes including embryogenesis, hemostasis, tissue repair, immune response and metastatic diffusion of tumor cells. This gene encodes a beta subunit. Multiple alternatively spliced transcript variants which encode different protein isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous targeted null mutants die at or soon after implantation. Tissue-specific knockouts exhibit skin blisters, hair-loss, brain and heart defects, and impaired immune responses, wound healing, and hematopoietic stem cell migration, respectively. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
A |
2: 69,076,288 (GRCm39) |
D1140V |
probably damaging |
Het |
| Ak1 |
G |
T |
2: 32,523,507 (GRCm39) |
|
probably benign |
Het |
| Ano1 |
A |
T |
7: 144,190,848 (GRCm39) |
L411H |
probably benign |
Het |
| Atad2 |
A |
T |
15: 57,967,921 (GRCm39) |
N569K |
probably benign |
Het |
| Bst2 |
C |
A |
8: 71,989,830 (GRCm39) |
R81L |
probably damaging |
Het |
| Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
| Chrna5 |
C |
T |
9: 54,911,683 (GRCm39) |
T57M |
possibly damaging |
Het |
| Cp |
A |
T |
3: 20,031,369 (GRCm39) |
D602V |
possibly damaging |
Het |
| Drd2 |
T |
C |
9: 49,312,115 (GRCm39) |
I156T |
probably damaging |
Het |
| Elp4 |
G |
A |
2: 105,622,653 (GRCm39) |
R349W |
probably damaging |
Het |
| Eml6 |
G |
A |
11: 29,705,021 (GRCm39) |
R1508* |
probably null |
Het |
| Etl4 |
T |
C |
2: 20,748,667 (GRCm39) |
L335S |
probably damaging |
Het |
| Fat3 |
A |
T |
9: 16,289,319 (GRCm39) |
I68K |
probably benign |
Het |
| Fyco1 |
G |
T |
9: 123,657,944 (GRCm39) |
A744D |
probably damaging |
Het |
| Gm22165 |
G |
T |
3: 64,012,886 (GRCm39) |
|
probably benign |
Het |
| Gse1 |
T |
C |
8: 121,280,326 (GRCm39) |
M1T |
probably null |
Het |
| Hs3st5 |
A |
T |
10: 36,709,404 (GRCm39) |
H313L |
probably damaging |
Het |
| Hsd17b3 |
T |
C |
13: 64,210,719 (GRCm39) |
Y212C |
probably damaging |
Het |
| Hyal5 |
G |
T |
6: 24,876,406 (GRCm39) |
S93I |
probably benign |
Het |
| Klf12 |
A |
T |
14: 100,347,294 (GRCm39) |
N12K |
possibly damaging |
Het |
| Krt40 |
C |
T |
11: 99,432,045 (GRCm39) |
C222Y |
probably damaging |
Het |
| Lrrn2 |
T |
C |
1: 132,864,965 (GRCm39) |
L10P |
probably damaging |
Het |
| Lrsam1 |
T |
C |
2: 32,837,915 (GRCm39) |
Y213C |
probably damaging |
Het |
| Mitf |
C |
A |
6: 97,994,892 (GRCm39) |
T277K |
possibly damaging |
Het |
| Ncan |
C |
T |
8: 70,554,607 (GRCm39) |
R1070H |
probably benign |
Het |
| Nr4a3 |
A |
G |
4: 48,083,201 (GRCm39) |
E578G |
probably benign |
Het |
| Patj |
A |
G |
4: 98,301,287 (GRCm39) |
T191A |
possibly damaging |
Het |
| Pign |
A |
G |
1: 105,517,027 (GRCm39) |
V533A |
probably benign |
Het |
| Smad5 |
G |
A |
13: 56,883,630 (GRCm39) |
V339I |
probably benign |
Het |
| Spem2 |
T |
A |
11: 69,708,065 (GRCm39) |
Y300F |
possibly damaging |
Het |
| Trank1 |
T |
G |
9: 111,193,790 (GRCm39) |
S605A |
probably damaging |
Het |
| Treml4 |
T |
A |
17: 48,571,877 (GRCm39) |
D93E |
possibly damaging |
Het |
| Tsc22d2 |
T |
A |
3: 58,323,924 (GRCm39) |
V272E |
probably damaging |
Het |
| Vmn2r19 |
T |
A |
6: 123,306,826 (GRCm39) |
F445I |
possibly damaging |
Het |
| Zfp712 |
T |
A |
13: 67,190,230 (GRCm39) |
Q99L |
possibly damaging |
Het |
| Zfp719 |
A |
T |
7: 43,233,611 (GRCm39) |
K10I |
probably benign |
Het |
|
| Other mutations in Itgb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00232:Itgb1
|
APN |
8 |
129,440,399 (GRCm39) |
splice site |
probably benign |
|
|
IGL03025:Itgb1
|
APN |
8 |
129,449,065 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
Drystacked
|
UTSW |
8 |
129,458,535 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
Jumble
|
UTSW |
8 |
129,440,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4377001:Itgb1
|
UTSW |
8 |
129,436,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0136:Itgb1
|
UTSW |
8 |
129,449,335 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0244:Itgb1
|
UTSW |
8 |
129,444,166 (GRCm39) |
splice site |
probably benign |
|
|
R0483:Itgb1
|
UTSW |
8 |
129,452,648 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0606:Itgb1
|
UTSW |
8 |
129,448,853 (GRCm39) |
unclassified |
probably benign |
|
|
R0657:Itgb1
|
UTSW |
8 |
129,449,335 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0865:Itgb1
|
UTSW |
8 |
129,436,732 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1052:Itgb1
|
UTSW |
8 |
129,439,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1429:Itgb1
|
UTSW |
8 |
129,444,157 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1589:Itgb1
|
UTSW |
8 |
129,431,940 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1589:Itgb1
|
UTSW |
8 |
129,431,939 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1614:Itgb1
|
UTSW |
8 |
129,446,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1672:Itgb1
|
UTSW |
8 |
129,458,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1723:Itgb1
|
UTSW |
8 |
129,452,519 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1865:Itgb1
|
UTSW |
8 |
129,446,938 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3786:Itgb1
|
UTSW |
8 |
129,439,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4223:Itgb1
|
UTSW |
8 |
129,440,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4756:Itgb1
|
UTSW |
8 |
129,443,703 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4826:Itgb1
|
UTSW |
8 |
129,446,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4880:Itgb1
|
UTSW |
8 |
129,442,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5202:Itgb1
|
UTSW |
8 |
129,446,491 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5682:Itgb1
|
UTSW |
8 |
129,453,549 (GRCm39) |
splice site |
probably null |
|
|
R5935:Itgb1
|
UTSW |
8 |
129,439,718 (GRCm39) |
nonsense |
probably null |
|
|
R6156:Itgb1
|
UTSW |
8 |
129,458,535 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6160:Itgb1
|
UTSW |
8 |
129,446,764 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6248:Itgb1
|
UTSW |
8 |
129,448,902 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6812:Itgb1
|
UTSW |
8 |
129,431,891 (GRCm39) |
splice site |
probably null |
|
|
R6869:Itgb1
|
UTSW |
8 |
129,446,516 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7249:Itgb1
|
UTSW |
8 |
129,446,885 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7496:Itgb1
|
UTSW |
8 |
129,446,786 (GRCm39) |
missense |
probably benign |
|
|
R7679:Itgb1
|
UTSW |
8 |
129,446,929 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7787:Itgb1
|
UTSW |
8 |
129,453,499 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7800:Itgb1
|
UTSW |
8 |
129,439,718 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8015:Itgb1
|
UTSW |
8 |
129,448,882 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8687:Itgb1
|
UTSW |
8 |
129,442,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8709:Itgb1
|
UTSW |
8 |
129,439,887 (GRCm39) |
intron |
probably benign |
|
|
R8979:Itgb1
|
UTSW |
8 |
129,448,951 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9243:Itgb1
|
UTSW |
8 |
129,433,587 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9389:Itgb1
|
UTSW |
8 |
129,433,637 (GRCm39) |
missense |
probably benign |
|
|
R9398:Itgb1
|
UTSW |
8 |
129,452,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Itgb1
|
UTSW |
8 |
129,439,850 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-11-05 |
Incidental Mutation