Incidental Mutation 'R0136:Itgb1'
ID |
21957 |
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 |
038421-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0136 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
8 |
Chromosomal Location |
129412135-129459681 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 129449335 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Aspartic acid
at position 585
(Y585D)
|
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: Y585D
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000087457 Gene: ENSMUSG00000025809 AA Change: Y585D
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 |
|
Meta Mutation Damage Score |
0.8402 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.3%
|
Validation Efficiency |
89% (56/63) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap4b1 |
T |
C |
3: 103,717,262 (GRCm39) |
M1T |
probably null |
Het |
Arg2 |
T |
C |
12: 79,196,780 (GRCm39) |
L167P |
probably damaging |
Het |
Atxn1 |
A |
G |
13: 45,720,645 (GRCm39) |
S417P |
probably damaging |
Het |
Baz2b |
A |
G |
2: 59,732,298 (GRCm39) |
V1949A |
probably benign |
Het |
Bcl3 |
A |
G |
7: 19,543,494 (GRCm39) |
V324A |
probably damaging |
Het |
Btbd10 |
A |
T |
7: 112,929,085 (GRCm39) |
S230T |
possibly damaging |
Het |
Camta1 |
A |
G |
4: 151,163,426 (GRCm39) |
S1479P |
probably damaging |
Het |
Cd69 |
C |
T |
6: 129,247,025 (GRCm39) |
S64N |
probably benign |
Het |
Col5a1 |
T |
C |
2: 27,914,843 (GRCm39) |
L153P |
probably damaging |
Het |
Crat |
C |
A |
2: 30,297,042 (GRCm39) |
V304L |
probably benign |
Het |
Csmd3 |
T |
C |
15: 47,710,527 (GRCm39) |
T1687A |
probably benign |
Het |
Dnah1 |
C |
T |
14: 30,998,115 (GRCm39) |
G2574D |
probably damaging |
Het |
Fau |
T |
C |
19: 6,109,210 (GRCm39) |
V86A |
possibly damaging |
Het |
Garem1 |
T |
G |
18: 21,263,048 (GRCm39) |
S589R |
probably damaging |
Het |
Gbp3 |
T |
G |
3: 142,269,862 (GRCm39) |
|
probably null |
Het |
Gin1 |
T |
A |
1: 97,710,741 (GRCm39) |
S141R |
possibly damaging |
Het |
Gtf2h1 |
A |
T |
7: 46,464,840 (GRCm39) |
Q419L |
possibly damaging |
Het |
Hipk3 |
A |
G |
2: 104,269,638 (GRCm39) |
I517T |
probably benign |
Het |
Hivep2 |
T |
C |
10: 14,007,622 (GRCm39) |
S1407P |
probably benign |
Het |
Hnrnpk |
G |
T |
13: 58,542,991 (GRCm39) |
D211E |
probably benign |
Het |
Hnrnpul2 |
T |
C |
19: 8,804,165 (GRCm39) |
L588P |
probably damaging |
Het |
Il18rap |
A |
T |
1: 40,564,218 (GRCm39) |
H112L |
probably benign |
Het |
Kmt2d |
C |
T |
15: 98,752,159 (GRCm39) |
|
probably benign |
Het |
Map7d1 |
A |
T |
4: 126,130,424 (GRCm39) |
|
probably null |
Het |
Me2 |
A |
G |
18: 73,903,744 (GRCm39) |
S575P |
probably benign |
Het |
Med13l |
A |
G |
5: 118,862,115 (GRCm39) |
T353A |
probably benign |
Het |
Mgat4b |
T |
C |
11: 50,121,908 (GRCm39) |
V143A |
possibly damaging |
Het |
Mlxip |
T |
A |
5: 123,580,369 (GRCm39) |
W211R |
probably damaging |
Het |
Morc2a |
T |
G |
11: 3,635,907 (GRCm39) |
|
probably null |
Het |
Muc4 |
A |
T |
16: 32,569,013 (GRCm39) |
|
probably benign |
Het |
Ndufa10 |
A |
T |
1: 92,390,850 (GRCm39) |
Y233* |
probably null |
Het |
Nek8 |
C |
T |
11: 78,062,033 (GRCm39) |
S237N |
probably benign |
Het |
Neto1 |
G |
A |
18: 86,479,445 (GRCm39) |
R211Q |
probably benign |
Het |
Nfatc2ip |
A |
G |
7: 125,990,507 (GRCm39) |
S165P |
probably benign |
Het |
Nsd2 |
A |
G |
5: 34,012,880 (GRCm39) |
K404E |
possibly damaging |
Het |
Nsd3 |
G |
T |
8: 26,149,870 (GRCm39) |
E352* |
probably null |
Het |
Nudt9 |
A |
G |
5: 104,194,972 (GRCm39) |
T23A |
probably benign |
Het |
Or1e34 |
T |
C |
11: 73,778,611 (GRCm39) |
M196V |
probably benign |
Het |
Or1e34 |
C |
T |
11: 73,778,656 (GRCm39) |
V181I |
probably benign |
Het |
Or8b57 |
A |
G |
9: 40,003,315 (GRCm39) |
*312Q |
probably null |
Het |
Patj |
C |
A |
4: 98,555,885 (GRCm39) |
Q297K |
probably damaging |
Het |
Pelo |
A |
T |
13: 115,225,439 (GRCm39) |
C40* |
probably null |
Het |
Pnpla3 |
G |
A |
15: 84,058,679 (GRCm39) |
|
probably null |
Het |
Pramel1 |
C |
A |
4: 143,124,016 (GRCm39) |
N230K |
probably damaging |
Het |
Psg20 |
A |
C |
7: 18,416,432 (GRCm39) |
L228R |
probably damaging |
Het |
Rsph10b |
T |
C |
5: 143,896,639 (GRCm39) |
F44L |
probably benign |
Het |
Septin2 |
G |
A |
1: 93,434,772 (GRCm39) |
G358R |
possibly damaging |
Het |
Slamf7 |
G |
A |
1: 171,476,499 (GRCm39) |
|
probably benign |
Het |
Slc12a8 |
A |
G |
16: 33,428,583 (GRCm39) |
D297G |
probably damaging |
Het |
Slc17a5 |
G |
A |
9: 78,485,956 (GRCm39) |
A43V |
probably damaging |
Het |
Slc22a1 |
A |
T |
17: 12,881,483 (GRCm39) |
F335L |
probably benign |
Het |
Slc26a5 |
T |
C |
5: 22,039,345 (GRCm39) |
N216S |
probably damaging |
Het |
Snrnp27 |
T |
C |
6: 86,653,187 (GRCm39) |
S144G |
probably benign |
Het |
Spata20 |
T |
A |
11: 94,371,435 (GRCm39) |
D643V |
probably damaging |
Het |
Spata24 |
T |
C |
18: 35,793,515 (GRCm39) |
K99R |
probably damaging |
Het |
Taar5 |
A |
G |
10: 23,847,607 (GRCm39) |
Y335C |
probably damaging |
Het |
Tpr |
A |
G |
1: 150,306,346 (GRCm39) |
H1540R |
probably benign |
Het |
Vmn1r27 |
A |
G |
6: 58,192,704 (GRCm39) |
F100S |
possibly damaging |
Het |
Vmn2r37 |
A |
T |
7: 9,220,782 (GRCm39) |
Y360* |
probably null |
Het |
Ybx1 |
C |
A |
4: 119,139,551 (GRCm39) |
R36L |
possibly damaging |
Het |
Zfp369 |
A |
G |
13: 65,445,016 (GRCm39) |
K720E |
probably benign |
Het |
Zfp599 |
A |
G |
9: 22,161,038 (GRCm39) |
S376P |
probably benign |
Het |
Zic2 |
A |
G |
14: 122,713,953 (GRCm39) |
E289G |
probably damaging |
Het |
Zzef1 |
T |
C |
11: 72,712,677 (GRCm39) |
V199A |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTGAAGACATGGACGCTTACTGC -3'
(R):5'- TATGCTCTGCACAGACGCCAAG -3'
Sequencing Primer
(F):5'- CTGCGAGTGTGATAACTTCAACTG -3'
(R):5'- AGACGCCAAGGCAGGTC -3'
|
Posted On |
2013-04-12 |