Incidental Mutation 'R0865:Itgb1'
| ID |
82304 |
| 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 |
039039-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0865 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
129412135-129459681 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to G
at 129436732 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087457
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090006]
[ENSMUST00000124826]
|
| AlphaFold |
P09055 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000090006
|
| SMART Domains |
Protein: ENSMUSP00000087457
Gene: ENSMUSG00000025809
| 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 |
noncoding transcript
Transcript: ENSMUST00000135281
|
| Meta Mutation Damage Score |
0.9589 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 99.0%
- 10x: 97.5%
- 20x: 95.2%
|
| Validation Efficiency |
98% (53/54) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck5 |
A |
G |
15: 76,479,843 (GRCm39) |
E581G |
probably damaging |
Het |
| Adcy5 |
A |
G |
16: 35,094,841 (GRCm39) |
N666S |
probably damaging |
Het |
| Apcs |
T |
C |
1: 172,721,782 (GRCm39) |
D188G |
probably benign |
Het |
| Arih2 |
A |
G |
9: 108,526,499 (GRCm39) |
|
probably benign |
Het |
| AU040320 |
A |
G |
4: 126,742,677 (GRCm39) |
K981E |
possibly damaging |
Het |
| Brwd1 |
A |
T |
16: 95,869,784 (GRCm39) |
I81K |
probably damaging |
Het |
| Cacng8 |
T |
A |
7: 3,460,625 (GRCm39) |
I136N |
possibly damaging |
Het |
| Cdh22 |
A |
T |
2: 165,022,976 (GRCm39) |
W32R |
probably damaging |
Het |
| Cel |
A |
G |
2: 28,450,627 (GRCm39) |
S133P |
probably damaging |
Het |
| Clasp2 |
A |
G |
9: 113,740,568 (GRCm39) |
T495A |
possibly damaging |
Het |
| Clock |
A |
T |
5: 76,414,271 (GRCm39) |
|
probably benign |
Het |
| Cox6a2 |
A |
G |
7: 127,804,995 (GRCm39) |
|
probably benign |
Het |
| Cyp2b19 |
C |
A |
7: 26,461,654 (GRCm39) |
|
probably benign |
Het |
| Dnah11 |
G |
A |
12: 118,154,579 (GRCm39) |
Q234* |
probably null |
Het |
| Gga3 |
A |
T |
11: 115,483,285 (GRCm39) |
N91K |
probably damaging |
Het |
| Idh1 |
T |
C |
1: 65,200,315 (GRCm39) |
T350A |
probably benign |
Het |
| Ints11 |
A |
G |
4: 155,971,564 (GRCm39) |
|
probably null |
Het |
| Kank4 |
A |
T |
4: 98,662,900 (GRCm39) |
|
probably benign |
Het |
| Kansl1 |
A |
T |
11: 104,315,194 (GRCm39) |
D281E |
probably benign |
Het |
| Kmt2a |
T |
C |
9: 44,730,067 (GRCm39) |
|
probably benign |
Het |
| Kpna4 |
T |
C |
3: 69,008,750 (GRCm39) |
E145G |
probably damaging |
Het |
| Lacc1 |
A |
G |
14: 77,271,584 (GRCm39) |
I201T |
possibly damaging |
Het |
| Larp7 |
T |
C |
3: 127,337,884 (GRCm39) |
K392E |
probably damaging |
Het |
| Lbh |
T |
A |
17: 73,228,224 (GRCm39) |
M23K |
probably benign |
Het |
| Myo15a |
A |
T |
11: 60,382,514 (GRCm39) |
E361V |
probably damaging |
Het |
| Ncor2 |
A |
G |
5: 125,116,046 (GRCm39) |
S470P |
probably benign |
Het |
| Ngef |
T |
A |
1: 87,412,323 (GRCm39) |
M449L |
probably benign |
Het |
| Odad1 |
A |
G |
7: 45,591,512 (GRCm39) |
T259A |
probably benign |
Het |
| Or2w3 |
T |
C |
11: 58,556,478 (GRCm39) |
I31T |
possibly damaging |
Het |
| Or7e178 |
T |
A |
9: 20,226,045 (GRCm39) |
Y57F |
probably damaging |
Het |
| Peak1 |
A |
T |
9: 56,165,116 (GRCm39) |
D937E |
probably benign |
Het |
| Pnpla7 |
A |
G |
2: 24,872,135 (GRCm39) |
K72E |
probably benign |
Het |
| Ptprn |
T |
G |
1: 75,224,782 (GRCm39) |
|
probably null |
Het |
| Scgn |
C |
T |
13: 24,146,102 (GRCm39) |
|
probably null |
Het |
| Sdk2 |
T |
C |
11: 113,741,748 (GRCm39) |
I824V |
probably benign |
Het |
| Slc38a3 |
A |
G |
9: 107,532,847 (GRCm39) |
S326P |
probably damaging |
Het |
| Spen |
A |
G |
4: 141,199,181 (GRCm39) |
S3126P |
probably benign |
Het |
| Tbcd |
T |
C |
11: 121,493,815 (GRCm39) |
C902R |
possibly damaging |
Het |
| Tmem63b |
T |
C |
17: 45,972,445 (GRCm39) |
I721V |
probably benign |
Het |
| Trim30c |
A |
G |
7: 104,039,658 (GRCm39) |
S46P |
probably damaging |
Het |
| Trim59 |
T |
C |
3: 68,944,941 (GRCm39) |
D133G |
probably damaging |
Het |
| Trpm7 |
A |
T |
2: 126,641,159 (GRCm39) |
|
probably null |
Het |
| Ttll10 |
A |
G |
4: 156,128,135 (GRCm39) |
L391P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,623,585 (GRCm39) |
T15331A |
possibly damaging |
Het |
| Vmn1r237 |
C |
T |
17: 21,534,976 (GRCm39) |
T233I |
probably damaging |
Het |
| Vmn2r115 |
A |
T |
17: 23,565,382 (GRCm39) |
D423V |
possibly damaging |
Het |
| Vmn2r25 |
T |
A |
6: 123,829,976 (GRCm39) |
R58S |
probably benign |
Het |
| Vmn2r71 |
A |
T |
7: 85,268,516 (GRCm39) |
I240F |
probably benign |
Het |
| Wdr3 |
A |
G |
3: 100,060,112 (GRCm39) |
|
probably benign |
Het |
| Zc3h14 |
T |
C |
12: 98,745,528 (GRCm39) |
|
probably null |
Het |
| Zc3hav1 |
C |
T |
6: 38,330,837 (GRCm39) |
|
probably benign |
Het |
| Zfp335 |
A |
T |
2: 164,741,415 (GRCm39) |
|
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTGCTGCTAAGTATGCCAAACAC -3'
(R):5'- TCCCTTTGCTGCGATTGGTGAC -3'
Sequencing Primer
(F):5'- CATACTCTGAATTTGAAAGGTGAGGC -3'
(R):5'- GCGATTGGTGACATTTTTATTTTTC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation