Incidental Mutation 'R6160:Itgb1'
ID |
489812 |
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 |
044307-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6160 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
129412135-129459681 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 129446764 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 426
(F426L)
|
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: F426L
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000087457 Gene: ENSMUSG00000025809 AA Change: F426L
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 |
0.9734 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
Validation Efficiency |
94% (62/66) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
T |
A |
7: 40,642,950 (GRCm39) |
S297R |
possibly damaging |
Het |
5530400C23Rik |
A |
G |
6: 133,271,289 (GRCm39) |
E111G |
possibly damaging |
Het |
8030423J24Rik |
T |
A |
13: 71,032,029 (GRCm39) |
S34T |
unknown |
Het |
Ace3 |
T |
A |
11: 105,885,558 (GRCm39) |
W20R |
possibly damaging |
Het |
Adgrf1 |
A |
G |
17: 43,621,578 (GRCm39) |
E605G |
probably damaging |
Het |
Arhgap44 |
G |
A |
11: 65,053,375 (GRCm39) |
|
probably benign |
Het |
Atm |
A |
C |
9: 53,402,259 (GRCm39) |
H1404Q |
probably benign |
Het |
AW209491 |
A |
G |
13: 14,811,306 (GRCm39) |
E53G |
probably damaging |
Het |
Bhmt1b |
G |
A |
18: 87,775,245 (GRCm39) |
C256Y |
probably damaging |
Het |
Cdt1 |
C |
T |
8: 123,298,107 (GRCm39) |
T366I |
probably benign |
Het |
Cerk |
A |
T |
15: 86,026,974 (GRCm39) |
C179S |
probably benign |
Het |
Cldn10 |
T |
C |
14: 119,099,255 (GRCm39) |
V123A |
possibly damaging |
Het |
Clip1 |
T |
C |
5: 123,751,604 (GRCm39) |
K726E |
possibly damaging |
Het |
Dcaf12 |
A |
T |
4: 41,294,043 (GRCm39) |
Y365N |
probably damaging |
Het |
Dennd6b |
A |
G |
15: 89,073,024 (GRCm39) |
L171P |
probably damaging |
Het |
Dip2c |
G |
A |
13: 9,583,290 (GRCm39) |
V91I |
probably benign |
Het |
Dlec1 |
A |
G |
9: 118,972,387 (GRCm39) |
I1431V |
probably benign |
Het |
Egln1 |
T |
C |
8: 125,675,231 (GRCm39) |
D188G |
probably damaging |
Het |
Enpp5 |
T |
A |
17: 44,392,259 (GRCm39) |
N229K |
possibly damaging |
Het |
Fmo1 |
T |
G |
1: 162,663,867 (GRCm39) |
I221L |
probably benign |
Het |
Fsip2 |
G |
A |
2: 82,818,289 (GRCm39) |
W4674* |
probably null |
Het |
Gm12185 |
G |
A |
11: 48,799,255 (GRCm39) |
Q413* |
probably null |
Het |
Gm7298 |
A |
T |
6: 121,741,886 (GRCm39) |
H436L |
probably benign |
Het |
Gucy2c |
G |
A |
6: 136,717,684 (GRCm39) |
Q430* |
probably null |
Het |
Hgd |
A |
G |
16: 37,433,660 (GRCm39) |
H134R |
probably damaging |
Het |
Hoxd8 |
A |
G |
2: 74,536,343 (GRCm39) |
E151G |
probably damaging |
Het |
Il15ra |
A |
G |
2: 11,724,827 (GRCm39) |
D99G |
probably damaging |
Het |
Ints4 |
T |
A |
7: 97,158,790 (GRCm39) |
|
probably null |
Het |
Itpr1 |
A |
C |
6: 108,495,716 (GRCm39) |
I2534L |
probably benign |
Het |
Kcnq4 |
T |
A |
4: 120,573,756 (GRCm39) |
H235L |
probably damaging |
Het |
Kcnt1 |
T |
A |
2: 25,782,395 (GRCm39) |
I178N |
probably damaging |
Het |
Kidins220 |
A |
G |
12: 25,047,310 (GRCm39) |
D252G |
probably damaging |
Het |
Krt23 |
A |
G |
11: 99,376,544 (GRCm39) |
I204T |
probably damaging |
Het |
Lipo4 |
A |
G |
19: 33,480,693 (GRCm39) |
L225P |
probably damaging |
Het |
Lrp3 |
T |
C |
7: 34,903,548 (GRCm39) |
D245G |
possibly damaging |
Het |
Mmp16 |
A |
G |
4: 18,051,857 (GRCm39) |
D282G |
probably damaging |
Het |
Myo1c |
A |
T |
11: 75,541,568 (GRCm39) |
H18L |
probably benign |
Het |
Myo1f |
C |
A |
17: 33,823,318 (GRCm39) |
P981Q |
probably benign |
Het |
Nle1 |
A |
T |
11: 82,798,983 (GRCm39) |
F33I |
probably benign |
Het |
Nlrp4e |
T |
G |
7: 23,020,731 (GRCm39) |
M406R |
probably damaging |
Het |
Obscn |
A |
T |
11: 58,942,611 (GRCm39) |
V4857E |
probably damaging |
Het |
Palb2 |
A |
T |
7: 121,727,643 (GRCm39) |
|
probably null |
Het |
Phospho1 |
A |
T |
11: 95,721,450 (GRCm39) |
E22V |
probably damaging |
Het |
Pom121l2 |
C |
T |
13: 22,167,838 (GRCm39) |
S703L |
possibly damaging |
Het |
Prex2 |
T |
C |
1: 11,064,075 (GRCm39) |
L20P |
probably damaging |
Het |
Psmb7 |
T |
C |
2: 38,533,393 (GRCm39) |
T45A |
probably damaging |
Het |
R3hdm2 |
T |
C |
10: 127,320,376 (GRCm39) |
I532T |
probably damaging |
Het |
Rcn1 |
T |
C |
2: 105,222,362 (GRCm39) |
D208G |
probably damaging |
Het |
Recql5 |
A |
G |
11: 115,823,613 (GRCm39) |
|
probably null |
Het |
Resf1 |
G |
A |
6: 149,233,005 (GRCm39) |
|
probably null |
Het |
Rfc4 |
A |
T |
16: 22,933,433 (GRCm39) |
I242N |
probably damaging |
Het |
Rims1 |
T |
C |
1: 22,503,235 (GRCm39) |
Y650C |
probably damaging |
Het |
Shc2 |
C |
T |
10: 79,462,853 (GRCm39) |
|
probably null |
Het |
Slc14a2 |
A |
T |
18: 78,202,190 (GRCm39) |
|
probably null |
Het |
Slc6a6 |
A |
T |
6: 91,716,995 (GRCm39) |
|
probably null |
Het |
Synj2 |
C |
A |
17: 6,058,336 (GRCm39) |
H275N |
possibly damaging |
Het |
T |
A |
T |
17: 8,660,618 (GRCm39) |
T410S |
probably benign |
Het |
Tars3 |
A |
G |
7: 65,332,527 (GRCm39) |
I543V |
probably benign |
Het |
Tbc1d8 |
T |
A |
1: 39,411,484 (GRCm39) |
K1117N |
probably damaging |
Het |
Tm7sf3 |
A |
T |
6: 146,507,787 (GRCm39) |
L425* |
probably null |
Het |
Trav14-3 |
A |
G |
14: 54,000,978 (GRCm39) |
Y63C |
probably damaging |
Het |
Tyro3 |
A |
C |
2: 119,633,751 (GRCm39) |
D133A |
probably damaging |
Het |
Vmn1r119 |
T |
G |
7: 20,745,740 (GRCm39) |
H214P |
possibly damaging |
Het |
Vmn2r120 |
G |
A |
17: 57,816,418 (GRCm39) |
P646S |
probably benign |
Het |
Zbtb7c |
A |
T |
18: 76,278,904 (GRCm39) |
Y454F |
probably benign |
Het |
Zmym2 |
T |
C |
14: 57,187,766 (GRCm39) |
L1144P |
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 |
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 |
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'- AGGCTCCACACTCAAATGTC -3'
Sequencing Primer
(F):5'- CGAAAGTGTTCCAACATTTCTATTGG -3'
(R):5'- AAATGTCCCATTTCCCTCATGG -3'
|
Posted On |
2017-10-10 |