Incidental Mutation 'R8015:Itgb1'
| ID |
617134 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itgb1
|
| Ensembl Gene |
ENSMUSG00000025809 |
| Gene Name |
integrin beta 1 (fibronectin receptor beta) |
| Synonyms |
Gm9863, Fnrb, CD29, beta1 integrin, 4633401G24Rik |
| MMRRC Submission |
067455-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8015 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
129412135-129459681 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 129448882 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 496
(V496D)
|
| 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: V496D
PolyPhen 2
Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000087457
Gene: ENSMUSG00000025809
AA Change: V496D
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (51/51) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alad |
A |
G |
4: 62,430,159 (GRCm39) |
V121A |
probably damaging |
Het |
| Anapc2 |
T |
A |
2: 25,174,688 (GRCm39) |
Y684N |
probably benign |
Het |
| Atp10a |
G |
T |
7: 58,453,245 (GRCm39) |
R808L |
probably benign |
Het |
| Best2 |
A |
G |
8: 85,735,983 (GRCm39) |
V317A |
probably damaging |
Het |
| Bmal2 |
T |
C |
6: 146,722,088 (GRCm39) |
S220P |
probably damaging |
Het |
| Cacnb4 |
A |
G |
2: 52,354,655 (GRCm39) |
L241P |
probably damaging |
Het |
| Col6a5 |
T |
C |
9: 105,758,940 (GRCm39) |
T2089A |
possibly damaging |
Het |
| Cttnbp2 |
G |
C |
6: 18,426,092 (GRCm39) |
A762G |
possibly damaging |
Het |
| Defb13 |
G |
T |
8: 22,436,828 (GRCm39) |
V8F |
possibly damaging |
Het |
| Dpp6 |
C |
T |
5: 27,022,808 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
A |
G |
3: 39,036,065 (GRCm39) |
D3239G |
possibly damaging |
Het |
| Hmcn1 |
T |
G |
1: 150,474,062 (GRCm39) |
R4793S |
possibly damaging |
Het |
| Hspa1a |
T |
A |
17: 35,189,625 (GRCm39) |
Q426L |
probably damaging |
Het |
| Hycc2 |
A |
G |
1: 58,574,641 (GRCm39) |
V300A |
possibly damaging |
Het |
| Il20rb |
T |
A |
9: 100,356,947 (GRCm39) |
Y61F |
probably damaging |
Het |
| Iqcn |
C |
T |
8: 71,169,441 (GRCm39) |
S1177L |
probably benign |
Het |
| Jakmip1 |
T |
C |
5: 37,317,109 (GRCm39) |
S102P |
unknown |
Het |
| Jmjd8 |
T |
A |
17: 26,048,302 (GRCm39) |
F108I |
probably damaging |
Het |
| Krtap15-1 |
A |
G |
16: 88,626,097 (GRCm39) |
T55A |
possibly damaging |
Het |
| Lce3d |
A |
T |
3: 92,865,810 (GRCm39) |
|
probably benign |
Het |
| Lnpep |
C |
A |
17: 17,766,761 (GRCm39) |
V702F |
probably damaging |
Het |
| Lox |
G |
A |
18: 52,661,420 (GRCm39) |
A218V |
probably benign |
Het |
| Mcrs1 |
T |
A |
15: 99,146,735 (GRCm39) |
K99* |
probably null |
Het |
| Mfsd8 |
G |
A |
3: 40,801,270 (GRCm39) |
|
probably benign |
Het |
| Msto1 |
G |
T |
3: 88,818,863 (GRCm39) |
P264Q |
probably damaging |
Het |
| Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
| Or2ad1 |
T |
C |
13: 21,326,303 (GRCm39) |
D308G |
probably benign |
Het |
| Or5g25 |
G |
T |
2: 85,478,136 (GRCm39) |
H176Q |
probably damaging |
Het |
| Pate2 |
A |
T |
9: 35,581,814 (GRCm39) |
H36L |
probably damaging |
Het |
| Pate9 |
A |
G |
9: 36,446,250 (GRCm39) |
V54A |
probably benign |
Het |
| Phf20l1 |
T |
G |
15: 66,511,797 (GRCm39) |
N925K |
possibly damaging |
Het |
| Pnliprp2 |
G |
T |
19: 58,754,714 (GRCm39) |
V253F |
probably damaging |
Het |
| Polr2b |
A |
G |
5: 77,484,353 (GRCm39) |
D745G |
probably damaging |
Het |
| Ptdss1 |
T |
A |
13: 67,111,407 (GRCm39) |
W158R |
possibly damaging |
Het |
| Rcn3 |
T |
A |
7: 44,734,331 (GRCm39) |
I226F |
probably damaging |
Het |
| Rhbdl1 |
C |
G |
17: 26,054,825 (GRCm39) |
V157L |
probably damaging |
Het |
| Slc30a2 |
A |
G |
4: 134,074,761 (GRCm39) |
T173A |
probably benign |
Het |
| Spata16 |
A |
G |
3: 26,721,808 (GRCm39) |
T110A |
probably benign |
Het |
| Specc1l |
A |
G |
10: 75,076,902 (GRCm39) |
K53E |
probably benign |
Het |
| Speg |
G |
T |
1: 75,392,065 (GRCm39) |
|
probably benign |
Het |
| Spta1 |
T |
A |
1: 174,067,737 (GRCm39) |
C2055S |
probably damaging |
Het |
| Tex14 |
G |
A |
11: 87,400,426 (GRCm39) |
R406Q |
probably benign |
Het |
| Tmem150b |
C |
T |
7: 4,719,327 (GRCm39) |
G198S |
probably null |
Het |
| Tnfrsf14 |
T |
G |
4: 155,011,118 (GRCm39) |
Q81P |
probably damaging |
Het |
| Txndc17 |
A |
G |
11: 72,098,568 (GRCm39) |
K40R |
probably benign |
Het |
| Ube3a |
T |
A |
7: 58,934,504 (GRCm39) |
V560E |
probably damaging |
Het |
| Vmn1r14 |
A |
G |
6: 57,211,015 (GRCm39) |
M198V |
probably damaging |
Het |
| Vmn2r23 |
G |
A |
6: 123,681,500 (GRCm39) |
S136N |
probably benign |
Het |
| Vmn2r31 |
C |
T |
7: 7,387,199 (GRCm39) |
V791I |
probably damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,829,704 (GRCm39) |
Y984C |
|
Het |
| Zfp386 |
T |
G |
12: 116,023,027 (GRCm39) |
D248E |
probably damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTAAATTTTCCCCAAGGCTC -3'
(R):5'- GTTGAAGTTATCACACTCGCAG -3'
Sequencing Primer
(F):5'- CCAAGGCTCCTGTATGTTCTATAAG -3'
(R):5'- CACTCGCAGAATTTTCCAGAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation