Incidental Mutation 'R4223:Itgb1'
ID |
319462 |
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 |
041043-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4223 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
129412135-129459681 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 129440624 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Serine
at position 255
(I255S)
|
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: I255S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000087457 Gene: ENSMUSG00000025809 AA Change: I255S
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 |
0.9621 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.6%
|
Validation Efficiency |
98% (65/66) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610008E11Rik |
A |
G |
10: 78,930,286 (GRCm39) |
Y43H |
probably damaging |
Het |
Aamp |
A |
T |
1: 74,320,285 (GRCm39) |
L348Q |
probably damaging |
Het |
Abcb1b |
T |
A |
5: 8,863,722 (GRCm39) |
L226M |
probably damaging |
Het |
Acap1 |
A |
G |
11: 69,774,511 (GRCm39) |
S396P |
probably damaging |
Het |
Aif1l |
A |
T |
2: 31,852,251 (GRCm39) |
S40C |
probably damaging |
Het |
Atp1a3 |
T |
C |
7: 24,700,355 (GRCm39) |
D48G |
probably benign |
Het |
Bhmt-ps1 |
T |
A |
4: 26,369,352 (GRCm39) |
|
noncoding transcript |
Het |
Ccdc116 |
A |
G |
16: 16,964,809 (GRCm39) |
|
probably benign |
Het |
Cmtm5 |
T |
A |
14: 55,175,376 (GRCm39) |
C51S |
probably damaging |
Het |
Cyb5rl |
T |
C |
4: 106,938,185 (GRCm39) |
V214A |
probably damaging |
Het |
Cyp4x1 |
A |
T |
4: 114,970,077 (GRCm39) |
I350N |
probably damaging |
Het |
Efcab6 |
C |
A |
15: 83,751,309 (GRCm39) |
D1498Y |
probably damaging |
Het |
Eif3c |
C |
G |
7: 126,165,471 (GRCm39) |
|
probably benign |
Het |
Epha3 |
G |
A |
16: 63,403,902 (GRCm39) |
S733L |
probably damaging |
Het |
Esyt1 |
T |
C |
10: 128,356,517 (GRCm39) |
Y376C |
probably damaging |
Het |
Galnt1 |
T |
C |
18: 24,371,413 (GRCm39) |
F4L |
probably benign |
Het |
Glis1 |
T |
C |
4: 107,425,042 (GRCm39) |
S218P |
probably benign |
Het |
Gm15854 |
A |
T |
6: 129,949,426 (GRCm39) |
|
noncoding transcript |
Het |
Gm29125 |
T |
C |
1: 80,361,236 (GRCm39) |
|
noncoding transcript |
Het |
Inpp5a |
T |
C |
7: 139,138,821 (GRCm39) |
V263A |
possibly damaging |
Het |
Kcp |
A |
G |
6: 29,482,257 (GRCm39) |
L1547P |
possibly damaging |
Het |
Kifc3 |
C |
A |
8: 95,836,610 (GRCm39) |
L72F |
probably damaging |
Het |
Lama3 |
T |
C |
18: 12,583,460 (GRCm39) |
C683R |
probably damaging |
Het |
Lrrc55 |
G |
A |
2: 85,026,460 (GRCm39) |
A188V |
possibly damaging |
Het |
Ly6i |
A |
T |
15: 74,854,884 (GRCm39) |
S9T |
probably benign |
Het |
Mfsd14b |
C |
T |
13: 65,214,422 (GRCm39) |
|
probably benign |
Het |
Nipsnap3a |
T |
A |
4: 52,997,251 (GRCm39) |
D172E |
probably benign |
Het |
Or4g7 |
A |
T |
2: 111,309,489 (GRCm39) |
Y120F |
probably benign |
Het |
Oxgr1 |
T |
C |
14: 120,260,025 (GRCm39) |
K61E |
probably damaging |
Het |
Pak2 |
G |
T |
16: 31,871,028 (GRCm39) |
N51K |
probably benign |
Het |
Pcdhgb7 |
T |
A |
18: 37,886,856 (GRCm39) |
D675E |
probably benign |
Het |
Pcolce |
T |
A |
5: 137,603,389 (GRCm39) |
|
probably benign |
Het |
Phc3 |
A |
T |
3: 30,990,968 (GRCm39) |
S383R |
probably damaging |
Het |
Phf1 |
C |
T |
17: 27,156,474 (GRCm39) |
R539* |
probably null |
Het |
Plch1 |
G |
A |
3: 63,609,321 (GRCm39) |
T48I |
probably damaging |
Het |
Plekha2 |
A |
G |
8: 25,533,036 (GRCm39) |
S312P |
probably damaging |
Het |
Pnpla7 |
T |
C |
2: 24,872,126 (GRCm39) |
F69L |
possibly damaging |
Het |
Ppcdc |
T |
A |
9: 57,321,998 (GRCm39) |
M181L |
possibly damaging |
Het |
Ptbp1 |
T |
C |
10: 79,695,047 (GRCm39) |
I125T |
probably benign |
Het |
Rfc3 |
C |
A |
5: 151,574,637 (GRCm39) |
|
probably benign |
Het |
Rpa2 |
T |
G |
4: 132,504,055 (GRCm39) |
I69S |
probably damaging |
Het |
Rtn4 |
G |
A |
11: 29,656,856 (GRCm39) |
V337I |
probably benign |
Het |
Rttn |
T |
C |
18: 89,113,708 (GRCm39) |
L1709P |
probably damaging |
Het |
Sh2b2 |
G |
A |
5: 136,247,907 (GRCm39) |
P548L |
possibly damaging |
Het |
Slc12a2 |
T |
A |
18: 58,043,328 (GRCm39) |
S591T |
probably damaging |
Het |
Slc25a45 |
A |
T |
19: 5,930,146 (GRCm39) |
I39F |
probably damaging |
Het |
Slc38a9 |
G |
A |
13: 112,850,782 (GRCm39) |
|
probably null |
Het |
Slc9a4 |
T |
C |
1: 40,658,286 (GRCm39) |
V603A |
probably damaging |
Het |
Snx19 |
T |
G |
9: 30,339,744 (GRCm39) |
V294G |
possibly damaging |
Het |
Sp140l2 |
T |
C |
1: 85,090,278 (GRCm39) |
D83G |
probably damaging |
Het |
Sspo |
G |
T |
6: 48,428,091 (GRCm39) |
V313L |
possibly damaging |
Het |
Stard9 |
A |
G |
2: 120,495,472 (GRCm39) |
T116A |
possibly damaging |
Het |
Strn3 |
C |
T |
12: 51,674,638 (GRCm39) |
R382Q |
probably damaging |
Het |
Trim43b |
T |
A |
9: 88,972,692 (GRCm39) |
Q154L |
probably benign |
Het |
Trps1 |
A |
G |
15: 50,710,044 (GRCm39) |
V98A |
probably benign |
Het |
Vmn1r220 |
T |
A |
13: 23,368,148 (GRCm39) |
M183L |
probably benign |
Het |
Vmn2r60 |
A |
T |
7: 41,765,952 (GRCm39) |
T20S |
probably benign |
Het |
Wdr81 |
T |
C |
11: 75,338,828 (GRCm39) |
T1444A |
probably benign |
Het |
Xirp2 |
A |
T |
2: 67,346,837 (GRCm39) |
E3026V |
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 |
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 |
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'- TGGAGAAAACTGTGATGCCG -3'
(R):5'- TGCAATGATTACAGACACCCGAG -3'
Sequencing Primer
(F):5'- CTGTGATGCCGTATATTAGCACAACC -3'
(R):5'- TGATTACAGACACCCGAGAAAGCAG -3'
|
Posted On |
2015-06-10 |