Incidental Mutation 'R1723:Itgb1'
ID |
191619 |
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 |
039755-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1723 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
129412135-129459681 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 129452519 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 728
(D728G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087457
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090006]
[ENSMUST00000124826]
|
AlphaFold |
P09055 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000090006
AA Change: D728G
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000087457 Gene: ENSMUSG00000025809 AA Change: D728G
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 |
unknown
Transcript: ENSMUST00000149116
AA Change: D38G
|
SMART Domains |
Protein: ENSMUSP00000119699 Gene: ENSMUSG00000025809 AA Change: D38G
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 |
|
Meta Mutation Damage Score |
0.2441 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.1%
|
Validation Efficiency |
100% (62/62) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alms1 |
G |
T |
6: 85,605,735 (GRCm39) |
G2462C |
probably damaging |
Het |
Anapc5 |
T |
C |
5: 122,937,406 (GRCm39) |
E464G |
probably damaging |
Het |
Aoc3 |
T |
A |
11: 101,227,261 (GRCm39) |
V378E |
possibly damaging |
Het |
Atp13a5 |
T |
A |
16: 29,051,551 (GRCm39) |
K1152I |
possibly damaging |
Het |
Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
Calcoco1 |
C |
A |
15: 102,627,988 (GRCm39) |
G49C |
probably damaging |
Het |
Cd70 |
T |
C |
17: 57,453,401 (GRCm39) |
T88A |
possibly damaging |
Het |
Cpeb1 |
C |
T |
7: 81,085,974 (GRCm39) |
R56Q |
probably benign |
Het |
Dglucy |
A |
G |
12: 100,808,938 (GRCm39) |
Y212C |
probably damaging |
Het |
Dnhd1 |
C |
A |
7: 105,364,127 (GRCm39) |
P4160T |
possibly damaging |
Het |
Ecel1 |
T |
C |
1: 87,082,143 (GRCm39) |
D190G |
probably benign |
Het |
Exoc6b |
A |
G |
6: 85,046,326 (GRCm39) |
L21P |
probably damaging |
Het |
Fam110c |
A |
G |
12: 31,124,394 (GRCm39) |
R119G |
unknown |
Het |
Gask1b |
T |
A |
3: 79,843,970 (GRCm39) |
N32K |
probably benign |
Het |
Gm42791 |
C |
A |
5: 148,896,311 (GRCm39) |
|
probably benign |
Het |
Hpcal4 |
A |
G |
4: 123,084,532 (GRCm39) |
I154V |
probably benign |
Het |
Kdm5d |
A |
T |
Y: 927,753 (GRCm39) |
D701V |
probably damaging |
Het |
Kif18a |
A |
G |
2: 109,133,227 (GRCm39) |
K448E |
probably damaging |
Het |
Kif26a |
T |
C |
12: 112,140,292 (GRCm39) |
F507S |
possibly damaging |
Het |
Kmt2c |
C |
T |
5: 25,520,003 (GRCm39) |
G2036R |
probably damaging |
Het |
Lrrc43 |
T |
A |
5: 123,630,276 (GRCm39) |
|
probably benign |
Het |
Map3k20 |
T |
C |
2: 72,219,836 (GRCm39) |
I256T |
probably damaging |
Het |
Med29 |
T |
A |
7: 28,092,130 (GRCm39) |
|
probably benign |
Het |
Mob3b |
A |
G |
4: 34,954,026 (GRCm39) |
C215R |
probably damaging |
Het |
Mtf2 |
T |
C |
5: 108,235,936 (GRCm39) |
Y87H |
probably damaging |
Het |
Myo18a |
G |
A |
11: 77,744,140 (GRCm39) |
R1834K |
probably damaging |
Het |
Nlrc4 |
T |
A |
17: 74,748,903 (GRCm39) |
D779V |
probably damaging |
Het |
Or51q1c |
T |
C |
7: 103,652,518 (GRCm39) |
F18S |
probably damaging |
Het |
Otud3 |
T |
C |
4: 138,625,329 (GRCm39) |
T242A |
probably damaging |
Het |
Pcare |
A |
T |
17: 72,057,373 (GRCm39) |
F768Y |
probably damaging |
Het |
Pnliprp1 |
T |
A |
19: 58,720,574 (GRCm39) |
M150K |
possibly damaging |
Het |
Polm |
T |
A |
11: 5,784,776 (GRCm39) |
Q227L |
probably benign |
Het |
Poln |
A |
G |
5: 34,280,016 (GRCm39) |
V282A |
probably benign |
Het |
Ppfia2 |
T |
A |
10: 106,751,533 (GRCm39) |
|
probably null |
Het |
Rad51 |
T |
G |
2: 118,954,295 (GRCm39) |
M168R |
probably benign |
Het |
Senp2 |
A |
G |
16: 21,846,792 (GRCm39) |
T266A |
probably benign |
Het |
Sfswap |
A |
G |
5: 129,616,758 (GRCm39) |
T401A |
probably benign |
Het |
Slc35a4 |
C |
A |
18: 36,815,788 (GRCm39) |
T206K |
possibly damaging |
Het |
Slc40a1 |
A |
G |
1: 45,963,921 (GRCm39) |
S23P |
probably damaging |
Het |
Spef2 |
T |
C |
15: 9,614,295 (GRCm39) |
K1217R |
probably damaging |
Het |
St18 |
A |
C |
1: 6,880,909 (GRCm39) |
|
probably benign |
Het |
Tdrd6 |
T |
C |
17: 43,939,218 (GRCm39) |
D610G |
possibly damaging |
Het |
Tmem163 |
C |
A |
1: 127,479,108 (GRCm39) |
R137L |
probably damaging |
Het |
Tmem94 |
T |
A |
11: 115,685,574 (GRCm39) |
D942E |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,580,754 (GRCm39) |
I23380F |
possibly damaging |
Het |
Uckl1 |
T |
A |
2: 181,212,393 (GRCm39) |
|
probably null |
Het |
Vav2 |
T |
C |
2: 27,208,976 (GRCm39) |
D99G |
possibly damaging |
Het |
Vmn2r30 |
T |
A |
7: 7,337,259 (GRCm39) |
I126F |
probably benign |
Het |
Zbtb41 |
A |
T |
1: 139,351,301 (GRCm39) |
Q138L |
probably benign |
Het |
Zfp599 |
T |
C |
9: 22,169,361 (GRCm39) |
Y37C |
probably damaging |
Het |
Zfp784 |
T |
A |
7: 5,038,782 (GRCm39) |
T259S |
possibly damaging |
Het |
Zfp954 |
T |
C |
7: 7,118,837 (GRCm39) |
S236G |
probably benign |
Het |
Zng1 |
A |
G |
19: 24,925,458 (GRCm39) |
V166A |
possibly 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 |
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'- AGCTCCCTTGTTAGAGCCTAGTAGC -3'
(R):5'- TCAGGAACCATCCTACTGCTCTCAG -3'
Sequencing Primer
(F):5'- agatcaggctgacctcaaac -3'
(R):5'- AACCATCCTACTGCTCTCAGTAATG -3'
|
Posted On |
2014-05-14 |