Incidental Mutation 'IGL03025:Itgb1'
| ID |
408133 |
| 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 # |
IGL03025
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
129412135-129459681 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 129449065 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 557
(N557S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087457
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090006]
[ENSMUST00000124826]
|
| AlphaFold |
P09055 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090006
AA Change: N557S
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000087457
Gene: ENSMUSG00000025809
AA Change: N557S
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
T |
C |
2: 151,315,405 (GRCm39) |
N91S |
possibly damaging |
Het |
| Adora1 |
T |
C |
1: 134,130,807 (GRCm39) |
Y288C |
probably damaging |
Het |
| Avil |
A |
T |
10: 126,849,446 (GRCm39) |
T581S |
probably benign |
Het |
| Cacna1h |
C |
T |
17: 25,651,868 (GRCm39) |
W92* |
probably null |
Het |
| Calr3 |
A |
C |
8: 73,188,735 (GRCm39) |
|
probably benign |
Het |
| Cdan1 |
T |
C |
2: 120,561,222 (GRCm39) |
E181G |
probably damaging |
Het |
| Clca4a |
T |
C |
3: 144,663,079 (GRCm39) |
N590S |
probably benign |
Het |
| Cnga1 |
T |
A |
5: 72,762,756 (GRCm39) |
I253F |
probably benign |
Het |
| Cngb3 |
T |
G |
4: 19,283,498 (GRCm39) |
|
probably benign |
Het |
| Cstf3 |
T |
A |
2: 104,439,276 (GRCm39) |
Y30N |
possibly damaging |
Het |
| Cyp2a12 |
T |
A |
7: 26,730,631 (GRCm39) |
S199T |
probably benign |
Het |
| Dlg1 |
A |
G |
16: 31,624,545 (GRCm39) |
I412V |
probably benign |
Het |
| Fasn |
C |
T |
11: 120,708,974 (GRCm39) |
V570M |
probably benign |
Het |
| Fhit |
A |
G |
14: 10,421,534 (GRCm38) |
S85P |
probably damaging |
Het |
| Frmd5 |
T |
A |
2: 121,383,825 (GRCm39) |
M369L |
probably benign |
Het |
| Ftdc2 |
A |
C |
16: 58,458,076 (GRCm39) |
I75S |
probably damaging |
Het |
| Gatb |
T |
C |
3: 85,483,181 (GRCm39) |
W63R |
probably damaging |
Het |
| Gga1 |
G |
T |
15: 78,772,382 (GRCm39) |
L227F |
probably damaging |
Het |
| Ltf |
T |
C |
9: 110,854,169 (GRCm39) |
V328A |
possibly damaging |
Het |
| Nefh |
T |
C |
11: 4,895,289 (GRCm39) |
E300G |
probably damaging |
Het |
| Nrip1 |
A |
G |
16: 76,091,353 (GRCm39) |
V68A |
probably benign |
Het |
| Or1m1 |
T |
C |
9: 18,666,665 (GRCm39) |
N89D |
probably benign |
Het |
| Pcdhb13 |
T |
G |
18: 37,575,817 (GRCm39) |
V65G |
probably damaging |
Het |
| Pcdhb4 |
A |
T |
18: 37,443,030 (GRCm39) |
Y780F |
possibly damaging |
Het |
| Plcd3 |
C |
T |
11: 102,965,724 (GRCm39) |
E503K |
probably benign |
Het |
| Rbm6 |
T |
A |
9: 107,651,918 (GRCm39) |
D903V |
possibly damaging |
Het |
| Rnf133 |
A |
G |
6: 23,649,134 (GRCm39) |
M265T |
probably benign |
Het |
| Sbf1 |
T |
C |
15: 89,173,848 (GRCm39) |
T1775A |
probably damaging |
Het |
| Serpina1f |
T |
A |
12: 103,659,805 (GRCm39) |
D159V |
probably damaging |
Het |
| Skap1 |
C |
A |
11: 96,593,508 (GRCm39) |
S118R |
probably damaging |
Het |
| Slc17a9 |
C |
A |
2: 180,381,609 (GRCm39) |
|
probably null |
Het |
| Slc30a5 |
A |
G |
13: 100,950,395 (GRCm39) |
S231P |
probably damaging |
Het |
| Stac2 |
A |
G |
11: 97,934,548 (GRCm39) |
F52S |
probably damaging |
Het |
| Them7 |
T |
C |
2: 105,128,150 (GRCm39) |
S44P |
probably benign |
Het |
| Tnmd |
A |
G |
X: 132,766,162 (GRCm39) |
|
probably benign |
Het |
| Trdmt1 |
A |
T |
2: 13,528,246 (GRCm39) |
I105N |
probably damaging |
Het |
| Trpc1 |
C |
T |
9: 95,592,313 (GRCm39) |
G554E |
probably damaging |
Het |
| Vmn1r37 |
A |
G |
6: 66,708,740 (GRCm39) |
Y85C |
probably benign |
Het |
| Zim1 |
T |
C |
7: 6,685,058 (GRCm39) |
T131A |
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 |
|
|
IGL01407:Itgb1
|
APN |
8 |
129,449,315 (GRCm39) |
missense |
probably benign |
0.08 |
|
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 |
2016-08-02 |
Incidental Mutation