Incidental Mutation 'R1429:Itgb1'
| ID |
161444 |
| 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 |
039485-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1429 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
129412135-129459681 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 129444157 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 |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 89.4%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
| Alg8 |
C |
T |
7: 97,039,499 (GRCm39) |
A410V |
probably benign |
Het |
| Arhgef4 |
A |
G |
1: 34,849,420 (GRCm39) |
Y481C |
probably damaging |
Het |
| Armc8 |
A |
G |
9: 99,418,260 (GRCm39) |
V56A |
possibly damaging |
Het |
| Cactin |
T |
C |
10: 81,159,512 (GRCm39) |
I23T |
probably damaging |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,656,900 (GRCm39) |
I3051V |
probably benign |
Het |
| Cpxm1 |
A |
T |
2: 130,238,364 (GRCm39) |
I66N |
probably damaging |
Het |
| Ddx50 |
G |
A |
10: 62,482,847 (GRCm39) |
T74I |
possibly damaging |
Het |
| Dnah7b |
G |
T |
1: 46,328,816 (GRCm39) |
D3183Y |
possibly damaging |
Het |
| Dsg1b |
A |
G |
18: 20,523,252 (GRCm39) |
D93G |
probably damaging |
Het |
| Ess2 |
G |
A |
16: 17,720,069 (GRCm39) |
R427* |
probably null |
Het |
| Fam135a |
T |
G |
1: 24,083,348 (GRCm39) |
K292N |
probably damaging |
Het |
| Fam83b |
G |
T |
9: 76,399,859 (GRCm39) |
R415S |
probably benign |
Het |
| Fxyd3 |
T |
A |
7: 30,773,046 (GRCm39) |
M1L |
probably benign |
Het |
| Gm5134 |
T |
A |
10: 75,814,215 (GRCm39) |
M193K |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,720,925 (GRCm39) |
E427G |
possibly damaging |
Het |
| Gpat3 |
G |
A |
5: 101,040,953 (GRCm39) |
G338S |
probably damaging |
Het |
| Hmgxb3 |
C |
T |
18: 61,283,505 (GRCm39) |
R606Q |
probably damaging |
Het |
| Myh1 |
C |
A |
11: 67,108,736 (GRCm39) |
T1384K |
possibly damaging |
Het |
| Myo3b |
A |
C |
2: 70,083,351 (GRCm39) |
Q640P |
probably damaging |
Het |
| Naa16 |
A |
G |
14: 79,596,967 (GRCm39) |
V305A |
probably benign |
Het |
| Or5h17 |
G |
A |
16: 58,820,501 (GRCm39) |
G151D |
possibly damaging |
Het |
| Pgap1 |
T |
C |
1: 54,534,020 (GRCm39) |
D631G |
probably benign |
Het |
| Phc2 |
C |
A |
4: 128,637,348 (GRCm39) |
P51Q |
probably damaging |
Het |
| Pmel |
G |
A |
10: 128,554,861 (GRCm39) |
|
probably null |
Het |
| Rassf8 |
G |
T |
6: 145,760,916 (GRCm39) |
G81W |
probably damaging |
Het |
| Rfx2 |
G |
T |
17: 57,111,369 (GRCm39) |
Q68K |
probably damaging |
Het |
| Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
| Rsbn1l |
A |
G |
5: 21,125,016 (GRCm39) |
L262S |
probably damaging |
Het |
| S100a16 |
A |
C |
3: 90,449,391 (GRCm39) |
Y22S |
probably damaging |
Het |
| Stx19 |
G |
A |
16: 62,642,960 (GRCm39) |
V259I |
possibly damaging |
Het |
| Tas2r105 |
T |
C |
6: 131,663,904 (GRCm39) |
I175V |
probably benign |
Het |
| Vmn2r67 |
T |
A |
7: 84,802,031 (GRCm39) |
H90L |
possibly damaging |
Het |
| Wscd1 |
T |
A |
11: 71,651,000 (GRCm39) |
L109Q |
probably damaging |
Het |
| Zfp423 |
T |
A |
8: 88,413,070 (GRCm39) |
Q1154L |
probably damaging |
Het |
| Zmym6 |
T |
C |
4: 127,017,672 (GRCm39) |
L1059P |
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 |
|
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'- TGCAGTTACTGAAGAGTTCCAACCTG -3'
(R):5'- ACGAGGAGATATGTGGCCTAATGACAC -3'
Sequencing Primer
(F):5'- GCCACAAGGCATTATGTTCAG -3'
(R):5'- GTTTGGAAATTATGCACATGCC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation