Incidental Mutation 'R8979:Itgb1'
ID |
683639 |
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 |
068812-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8979 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
129412135-129459681 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 129448951 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 519
(E519G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087457
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090006]
[ENSMUST00000124826]
|
AlphaFold |
P09055 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000090006
AA Change: E519G
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000087457 Gene: ENSMUSG00000025809 AA Change: E519G
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2 |
A |
C |
3: 59,932,545 (GRCm39) |
R353S |
probably damaging |
Het |
Ablim3 |
C |
T |
18: 61,982,397 (GRCm39) |
V183I |
probably benign |
Het |
Adgrb3 |
T |
A |
1: 25,527,115 (GRCm39) |
Q607L |
probably benign |
Het |
Adgrl1 |
A |
G |
8: 84,665,015 (GRCm39) |
D1234G |
probably benign |
Het |
Alms1 |
A |
G |
6: 85,598,009 (GRCm39) |
Y945C |
probably damaging |
Het |
Arhgef26 |
T |
A |
3: 62,246,969 (GRCm39) |
W18R |
possibly damaging |
Het |
Caskin1 |
G |
T |
17: 24,717,899 (GRCm39) |
A229S |
possibly damaging |
Het |
Celsr1 |
A |
T |
15: 85,847,340 (GRCm39) |
S1466T |
probably damaging |
Het |
Cftr |
T |
C |
6: 18,227,947 (GRCm39) |
Y380H |
probably benign |
Het |
Ciapin1 |
A |
T |
8: 95,549,753 (GRCm39) |
L301Q |
probably damaging |
Het |
Clec1b |
A |
G |
6: 129,380,537 (GRCm39) |
E151G |
probably benign |
Het |
Cngb1 |
G |
A |
8: 96,004,913 (GRCm39) |
|
probably benign |
Het |
Cntln |
T |
A |
4: 85,048,910 (GRCm39) |
V240E |
probably damaging |
Het |
Cog5 |
A |
G |
12: 31,840,894 (GRCm39) |
T240A |
probably benign |
Het |
Col5a3 |
G |
A |
9: 20,686,597 (GRCm39) |
P1343S |
unknown |
Het |
Cspp1 |
T |
A |
1: 10,134,630 (GRCm39) |
S127T |
probably benign |
Het |
Dnah9 |
T |
G |
11: 65,895,978 (GRCm39) |
M2466L |
probably benign |
Het |
Fbn2 |
C |
T |
18: 58,286,928 (GRCm39) |
G244R |
probably damaging |
Het |
Fbxw13 |
A |
T |
9: 109,013,197 (GRCm39) |
W247R |
probably damaging |
Het |
Gbp4 |
G |
A |
5: 105,267,248 (GRCm39) |
T557M |
probably benign |
Het |
Ide |
G |
A |
19: 37,302,711 (GRCm39) |
A133V |
|
Het |
Il2rb |
C |
A |
15: 78,376,052 (GRCm39) |
|
probably benign |
Het |
Kifc1 |
A |
G |
17: 34,102,228 (GRCm39) |
Y462H |
possibly damaging |
Het |
Krt1 |
A |
G |
15: 101,755,340 (GRCm39) |
F473S |
probably benign |
Het |
Llgl1 |
C |
T |
11: 60,601,129 (GRCm39) |
A689V |
probably benign |
Het |
Lrrc37a |
C |
A |
11: 103,393,833 (GRCm39) |
V531L |
possibly damaging |
Het |
Mid1 |
C |
G |
X: 168,768,003 (GRCm39) |
P384A |
probably benign |
Het |
Mid1 |
G |
A |
X: 168,768,009 (GRCm39) |
A386T |
probably benign |
Het |
Mms22l |
C |
T |
4: 24,580,070 (GRCm39) |
L760F |
probably benign |
Het |
Mplkipl1 |
A |
G |
19: 61,164,169 (GRCm39) |
Y89H |
probably damaging |
Het |
Mst1r |
C |
T |
9: 107,792,478 (GRCm39) |
R951C |
probably damaging |
Het |
Naalad2 |
G |
A |
9: 18,242,146 (GRCm39) |
T586M |
probably damaging |
Het |
Or4c108 |
C |
T |
2: 88,804,173 (GRCm39) |
V21I |
probably benign |
Het |
Oxct2b |
A |
G |
4: 123,011,169 (GRCm39) |
N363S |
probably benign |
Het |
Padi6 |
T |
G |
4: 140,466,474 (GRCm39) |
N145T |
probably benign |
Het |
Plcl2 |
T |
A |
17: 50,947,145 (GRCm39) |
M1008K |
possibly damaging |
Het |
Plekha5 |
T |
C |
6: 140,496,818 (GRCm39) |
S435P |
probably damaging |
Het |
Prkacb |
C |
A |
3: 146,518,411 (GRCm39) |
G10C |
probably benign |
Het |
Psg29 |
A |
T |
7: 16,937,544 (GRCm39) |
|
probably benign |
Het |
Ptpn4 |
T |
C |
1: 119,671,120 (GRCm39) |
T213A |
probably damaging |
Het |
Ptpro |
A |
G |
6: 137,345,140 (GRCm39) |
I49V |
probably benign |
Het |
Rassf1 |
A |
G |
9: 107,429,004 (GRCm39) |
D70G |
probably benign |
Het |
Rbm24 |
A |
T |
13: 46,572,531 (GRCm39) |
T9S |
probably damaging |
Het |
Rp1 |
T |
C |
1: 4,218,937 (GRCm39) |
T948A |
unknown |
Het |
Ryr2 |
A |
T |
13: 11,609,924 (GRCm39) |
C4301S |
probably benign |
Het |
S100pbp |
T |
C |
4: 129,076,133 (GRCm39) |
D64G |
probably damaging |
Het |
Samd3 |
A |
G |
10: 26,120,428 (GRCm39) |
K141E |
possibly damaging |
Het |
Scgb1b29 |
A |
T |
7: 32,141,277 (GRCm39) |
K65* |
probably null |
Het |
Shoc1 |
T |
C |
4: 59,047,276 (GRCm39) |
T1448A |
possibly damaging |
Het |
Slc51b |
T |
C |
9: 65,320,210 (GRCm39) |
N86D |
probably benign |
Het |
Slc6a3 |
G |
A |
13: 73,715,720 (GRCm39) |
V452I |
probably benign |
Het |
Sobp |
A |
G |
10: 42,896,976 (GRCm39) |
|
probably null |
Het |
Spats2 |
T |
C |
15: 99,110,123 (GRCm39) |
S507P |
possibly damaging |
Het |
Spns3 |
C |
T |
11: 72,420,416 (GRCm39) |
A357T |
probably damaging |
Het |
Suox |
A |
T |
10: 128,507,367 (GRCm39) |
H220Q |
probably damaging |
Het |
Tbc1d9b |
A |
T |
11: 50,061,809 (GRCm39) |
S1106C |
probably benign |
Het |
Tbx1 |
T |
C |
16: 18,406,745 (GRCm39) |
D9G |
unknown |
Het |
Tcaf2 |
A |
T |
6: 42,601,404 (GRCm39) |
F885Y |
probably damaging |
Het |
Tgoln1 |
T |
C |
6: 72,593,262 (GRCm39) |
T73A |
probably benign |
Het |
Tigd3 |
G |
A |
19: 5,941,853 (GRCm39) |
P426S |
probably benign |
Het |
Tmem233 |
T |
A |
5: 116,221,260 (GRCm39) |
|
probably benign |
Het |
Tnfrsf11a |
A |
G |
1: 105,754,825 (GRCm39) |
D299G |
possibly damaging |
Het |
Trim32 |
T |
C |
4: 65,531,692 (GRCm39) |
V83A |
possibly damaging |
Het |
Unc13a |
A |
T |
8: 72,113,125 (GRCm39) |
M242K |
probably benign |
Het |
Vat1 |
C |
T |
11: 101,353,041 (GRCm39) |
G293D |
probably damaging |
Het |
Vmn1r174 |
T |
A |
7: 23,453,892 (GRCm39) |
V186D |
possibly damaging |
Het |
Wdfy3 |
A |
G |
5: 102,096,764 (GRCm39) |
Y345H |
probably damaging |
Het |
Zzef1 |
C |
T |
11: 72,766,003 (GRCm39) |
T1510I |
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 |
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 |
|
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'- ATGTGGAGTGAGCATCCCTAC -3'
(R):5'- ACCCAGAGACTCTCAGATATCTG -3'
Sequencing Primer
(F):5'- GGAGTGAGCATCCCTACTTGATAC -3'
(R):5'- CTCATTAGAGGAACTATGTGTGTAGC -3'
|
Posted On |
2021-10-11 |