Incidental Mutation 'R4826:Itgb1'
ID |
374153 |
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 |
042442-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4826 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
129412135-129459681 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 129446789 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 435
(C435S)
|
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: C435S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000087457 Gene: ENSMUSG00000025809 AA Change: C435S
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 |
0.9538 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
Validation Efficiency |
100% (72/72) |
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 |
Abca14 |
A |
T |
7: 119,815,470 (GRCm39) |
R239S |
probably damaging |
Het |
Acin1 |
A |
G |
14: 54,902,074 (GRCm39) |
S573P |
probably damaging |
Het |
Acta2 |
A |
T |
19: 34,229,223 (GRCm39) |
Y55* |
probably null |
Het |
Aifm2 |
T |
C |
10: 61,561,768 (GRCm39) |
M38T |
probably benign |
Het |
Ank2 |
C |
A |
3: 126,749,650 (GRCm39) |
V460L |
probably benign |
Het |
Ap1b1 |
T |
C |
11: 4,968,043 (GRCm39) |
S185P |
probably benign |
Het |
Arsj |
A |
G |
3: 126,232,451 (GRCm39) |
Y399C |
probably damaging |
Het |
Ciao3 |
A |
G |
17: 25,999,306 (GRCm39) |
H240R |
probably damaging |
Het |
Clec2d |
T |
C |
6: 129,161,122 (GRCm39) |
V73A |
probably benign |
Het |
Cntln |
T |
G |
4: 84,923,281 (GRCm39) |
M582R |
probably benign |
Het |
Cyp4a10 |
C |
T |
4: 115,375,541 (GRCm39) |
P8L |
probably benign |
Het |
Dip2b |
A |
G |
15: 100,067,162 (GRCm39) |
N555D |
probably damaging |
Het |
Dusp4 |
T |
A |
8: 35,285,671 (GRCm39) |
F311I |
probably damaging |
Het |
Eif4g3 |
T |
C |
4: 137,905,256 (GRCm39) |
V1245A |
possibly damaging |
Het |
Ephb3 |
G |
A |
16: 21,033,745 (GRCm39) |
R23H |
possibly damaging |
Het |
Ext2 |
T |
C |
2: 93,592,975 (GRCm39) |
T410A |
probably benign |
Het |
Fam193a |
A |
G |
5: 34,593,875 (GRCm39) |
E124G |
probably damaging |
Het |
Fat4 |
T |
A |
3: 39,037,106 (GRCm39) |
V3586E |
probably damaging |
Het |
Frmd4a |
T |
C |
2: 4,606,108 (GRCm39) |
S611P |
probably damaging |
Het |
Gcn1 |
A |
G |
5: 115,731,752 (GRCm39) |
T956A |
probably benign |
Het |
Gm10549 |
C |
A |
18: 33,603,838 (GRCm39) |
T107K |
unknown |
Het |
Herc6 |
T |
A |
6: 57,624,072 (GRCm39) |
M614K |
probably benign |
Het |
Hspg2 |
T |
C |
4: 137,292,706 (GRCm39) |
C4095R |
probably damaging |
Het |
Hyal5 |
T |
C |
6: 24,891,575 (GRCm39) |
I463T |
possibly damaging |
Het |
Icam5 |
C |
T |
9: 20,949,099 (GRCm39) |
A817V |
possibly damaging |
Het |
Igf2r |
A |
T |
17: 12,920,240 (GRCm39) |
D1366E |
probably damaging |
Het |
Ints7 |
G |
A |
1: 191,344,018 (GRCm39) |
V553I |
probably damaging |
Het |
Iqgap2 |
T |
A |
13: 95,899,783 (GRCm39) |
I92F |
probably damaging |
Het |
Lrrc71 |
T |
C |
3: 87,650,615 (GRCm39) |
M216V |
probably benign |
Het |
Mgam |
T |
C |
6: 40,657,582 (GRCm39) |
V979A |
possibly damaging |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Myh9 |
A |
T |
15: 77,673,146 (GRCm39) |
Y400* |
probably null |
Het |
Nbeal1 |
A |
G |
1: 60,290,501 (GRCm39) |
R1033G |
possibly damaging |
Het |
Nit1 |
T |
C |
1: 171,173,166 (GRCm39) |
|
probably benign |
Het |
Nlrp1c-ps |
A |
G |
11: 71,133,343 (GRCm39) |
|
noncoding transcript |
Het |
Nt5c1a |
T |
C |
4: 123,102,365 (GRCm39) |
V97A |
probably damaging |
Het |
Or12k5 |
A |
G |
2: 36,895,345 (GRCm39) |
Y94H |
probably damaging |
Het |
Or13a18 |
T |
A |
7: 140,190,232 (GRCm39) |
M51K |
probably benign |
Het |
Or1a1b |
A |
G |
11: 74,097,157 (GRCm39) |
M295T |
possibly damaging |
Het |
Or56a5 |
G |
T |
7: 104,793,175 (GRCm39) |
N108K |
probably damaging |
Het |
Or9m1 |
T |
A |
2: 87,733,693 (GRCm39) |
D109V |
probably damaging |
Het |
Pde4a |
T |
A |
9: 21,103,676 (GRCm39) |
|
probably null |
Het |
Pkn2 |
T |
C |
3: 142,515,270 (GRCm39) |
K640R |
probably damaging |
Het |
Pla2g6 |
A |
G |
15: 79,192,879 (GRCm39) |
S263P |
possibly damaging |
Het |
Prkg1 |
A |
G |
19: 31,742,006 (GRCm39) |
S73P |
possibly damaging |
Het |
Prr27 |
A |
C |
5: 87,998,825 (GRCm39) |
|
probably benign |
Het |
Rad54b |
G |
T |
4: 11,599,753 (GRCm39) |
W319L |
probably damaging |
Het |
Rassf8 |
T |
A |
6: 145,762,276 (GRCm39) |
L349H |
probably damaging |
Het |
Rmc1 |
G |
T |
18: 12,318,836 (GRCm39) |
|
probably benign |
Het |
Rnf113a2 |
T |
A |
12: 84,464,388 (GRCm39) |
N93K |
probably benign |
Het |
Sapcd2 |
C |
T |
2: 25,262,768 (GRCm39) |
A109V |
probably benign |
Het |
Slamf9 |
C |
A |
1: 172,304,008 (GRCm39) |
H118N |
probably benign |
Het |
Slc37a1 |
A |
G |
17: 31,541,147 (GRCm39) |
Y213C |
probably damaging |
Het |
Slc5a1 |
A |
G |
5: 33,316,494 (GRCm39) |
D580G |
probably benign |
Het |
Slc7a2 |
T |
A |
8: 41,364,083 (GRCm39) |
I432N |
probably damaging |
Het |
Tas2r114 |
A |
T |
6: 131,666,800 (GRCm39) |
L76Q |
probably damaging |
Het |
Tcerg1 |
C |
T |
18: 42,668,180 (GRCm39) |
P391L |
unknown |
Het |
Tdrd12 |
A |
C |
7: 35,203,582 (GRCm39) |
V314G |
probably benign |
Het |
Zbtb7b |
A |
G |
3: 89,288,080 (GRCm39) |
L246S |
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 |
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 |
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 |
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'- TCCTATTGCAAGAATGGGGTG -3'
(R):5'- ACTGTCTGTTGTGCTGCAGC -3'
Sequencing Primer
(F):5'- CGAAAGTGTTCCAACATTTCTATTGG -3'
(R):5'- CAAGGCTGCACTTACCTGC -3'
|
Posted On |
2016-03-01 |