Incidental Mutation 'R8068:Itgb3'
ID |
620122 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Itgb3
|
Ensembl Gene |
ENSMUSG00000020689 |
Gene Name |
integrin beta 3 |
Synonyms |
platelet glycoprotein IIIa (GP3A), CD61 |
MMRRC Submission |
067503-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.915)
|
Stock # |
R8068 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
104498826-104561302 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 104556337 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 726
(M726K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021028
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021028]
|
AlphaFold |
O54890 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021028
AA Change: M726K
PolyPhen 2
Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000021028 Gene: ENSMUSG00000020689 AA Change: M726K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
PSI
|
29 |
75 |
4.43e-5 |
SMART |
INB
|
37 |
460 |
3.16e-276 |
SMART |
VWA
|
136 |
395 |
8.65e-2 |
SMART |
Pfam:EGF_2
|
511 |
546 |
6.8e-7 |
PFAM |
Pfam:EGF_2
|
553 |
583 |
8.1e-7 |
PFAM |
Integrin_B_tail
|
633 |
717 |
1.07e-28 |
SMART |
Integrin_b_cyt
|
741 |
787 |
1.78e-25 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The ITGB3 protein product is the integrin beta chain beta 3. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. Integrin beta 3 is found along with the alpha IIb chain in platelets. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygotes for targeted mutations exhibit platelet defects, extended bleeding times, cutaneous and gastrointestinal bleeding, anemia, increased bone mass, hypocalcemia, reduced survival, and placental defects associated with some fetal loss. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam39 |
T |
A |
8: 41,278,975 (GRCm39) |
D455E |
not run |
Het |
Aldoc |
T |
C |
11: 78,215,553 (GRCm39) |
F79S |
possibly damaging |
Het |
Atmin |
A |
G |
8: 117,683,389 (GRCm39) |
S350G |
probably benign |
Het |
Bms1 |
A |
G |
6: 118,390,711 (GRCm39) |
F206S |
probably damaging |
Het |
Carmil1 |
T |
A |
13: 24,259,711 (GRCm39) |
I698L |
probably benign |
Het |
Cd47 |
T |
A |
16: 49,715,779 (GRCm39) |
S182T |
|
Het |
Ces2e |
G |
T |
8: 105,659,629 (GRCm39) |
|
probably null |
Het |
Cfap251 |
A |
G |
5: 123,394,229 (GRCm39) |
S373G |
not run |
Het |
Cit |
C |
A |
5: 116,090,525 (GRCm39) |
H906Q |
probably damaging |
Het |
Cit |
T |
C |
5: 116,120,294 (GRCm39) |
S1370P |
probably benign |
Het |
Dchs2 |
T |
C |
3: 83,207,745 (GRCm39) |
F1739L |
probably benign |
Het |
Dlx4 |
T |
C |
11: 95,036,156 (GRCm39) |
Y51C |
possibly damaging |
Het |
Drosha |
T |
A |
15: 12,883,276 (GRCm39) |
Y796* |
probably null |
Het |
Elf1 |
T |
A |
14: 79,773,830 (GRCm39) |
F14I |
probably benign |
Het |
Fam135b |
T |
C |
15: 71,404,827 (GRCm39) |
Q73R |
probably damaging |
Het |
Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
Gls2 |
C |
G |
10: 128,030,983 (GRCm39) |
R81G |
unknown |
Het |
Hnrnpll |
T |
C |
17: 80,358,281 (GRCm39) |
M157V |
possibly damaging |
Het |
Kcna10 |
T |
G |
3: 107,101,726 (GRCm39) |
M119R |
possibly damaging |
Het |
Kcnh1 |
A |
G |
1: 191,924,250 (GRCm39) |
T155A |
probably benign |
Het |
Kctd9 |
T |
A |
14: 67,962,111 (GRCm39) |
D51E |
unknown |
Het |
Lgr6 |
T |
C |
1: 134,991,402 (GRCm39) |
I129V |
probably benign |
Het |
Lrrfip1 |
A |
T |
1: 91,055,824 (GRCm39) |
D598V |
probably damaging |
Het |
Ltbp4 |
G |
T |
7: 27,023,593 (GRCm39) |
Q850K |
probably damaging |
Het |
Mdm1 |
A |
G |
10: 117,982,709 (GRCm39) |
R115G |
possibly damaging |
Het |
Mns1 |
A |
C |
9: 72,355,809 (GRCm39) |
|
probably null |
Het |
Mthfs |
G |
A |
9: 89,093,288 (GRCm39) |
R14Q |
probably damaging |
Het |
Muc2 |
T |
A |
7: 141,298,422 (GRCm39) |
S25T |
|
Het |
Ncapd3 |
T |
C |
9: 26,974,657 (GRCm39) |
S710P |
possibly damaging |
Het |
Nrip1 |
T |
A |
16: 76,089,841 (GRCm39) |
H572L |
possibly damaging |
Het |
Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
Opa3 |
A |
G |
7: 18,978,910 (GRCm39) |
E125G |
probably damaging |
Het |
Or52p1 |
T |
A |
7: 104,267,460 (GRCm39) |
C191* |
probably null |
Het |
Or5ap2 |
A |
G |
2: 85,680,150 (GRCm39) |
E118G |
probably damaging |
Het |
Or5w19 |
A |
G |
2: 87,698,995 (GRCm39) |
Y220C |
probably benign |
Het |
P3h1 |
A |
G |
4: 119,094,059 (GRCm39) |
Y238C |
probably damaging |
Het |
Pappa2 |
T |
C |
1: 158,763,555 (GRCm39) |
D652G |
possibly damaging |
Het |
Pcdha11 |
T |
A |
18: 37,138,618 (GRCm39) |
N82K |
probably damaging |
Het |
Pde4b |
T |
C |
4: 102,453,212 (GRCm39) |
I293T |
probably damaging |
Het |
Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
Qki |
T |
C |
17: 10,537,732 (GRCm39) |
D24G |
possibly damaging |
Het |
Rbpjl |
A |
G |
2: 164,250,438 (GRCm39) |
K197E |
possibly damaging |
Het |
Rnf111 |
A |
T |
9: 70,365,223 (GRCm39) |
S415T |
probably benign |
Het |
Scyl1 |
A |
G |
19: 5,810,853 (GRCm39) |
V488A |
probably damaging |
Het |
Slc1a6 |
G |
C |
10: 78,648,706 (GRCm39) |
V476L |
possibly damaging |
Het |
Slc22a17 |
A |
T |
14: 55,146,365 (GRCm39) |
F84I |
probably benign |
Het |
Slc22a4 |
A |
C |
11: 53,888,269 (GRCm39) |
I253S |
possibly damaging |
Het |
Speer2 |
T |
C |
16: 69,657,412 (GRCm39) |
H77R |
possibly damaging |
Het |
Speg |
T |
C |
1: 75,398,894 (GRCm39) |
S2114P |
probably damaging |
Het |
Synpo2 |
T |
A |
3: 122,911,041 (GRCm39) |
R201S |
possibly damaging |
Het |
Ttpa |
C |
A |
4: 20,028,419 (GRCm39) |
H225Q |
probably damaging |
Het |
Vmn1r45 |
A |
T |
6: 89,910,261 (GRCm39) |
H236Q |
possibly damaging |
Het |
Vmn2r7 |
A |
T |
3: 64,623,507 (GRCm39) |
V271D |
probably benign |
Het |
Zfp53 |
A |
T |
17: 21,729,274 (GRCm39) |
T436S |
probably benign |
Het |
|
Other mutations in Itgb3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00094:Itgb3
|
APN |
11 |
104,524,410 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01460:Itgb3
|
APN |
11 |
104,553,220 (GRCm39) |
nonsense |
probably null |
|
IGL01615:Itgb3
|
APN |
11 |
104,534,791 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01669:Itgb3
|
APN |
11 |
104,524,216 (GRCm39) |
splice site |
probably benign |
|
IGL02057:Itgb3
|
APN |
11 |
104,523,174 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02192:Itgb3
|
APN |
11 |
104,534,765 (GRCm39) |
missense |
probably benign |
|
IGL02604:Itgb3
|
APN |
11 |
104,553,269 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02708:Itgb3
|
APN |
11 |
104,528,655 (GRCm39) |
missense |
possibly damaging |
0.60 |
IGL02901:Itgb3
|
APN |
11 |
104,528,772 (GRCm39) |
missense |
probably benign |
0.18 |
IGL03288:Itgb3
|
APN |
11 |
104,524,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R0042:Itgb3
|
UTSW |
11 |
104,557,966 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0042:Itgb3
|
UTSW |
11 |
104,557,966 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0123:Itgb3
|
UTSW |
11 |
104,527,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R0125:Itgb3
|
UTSW |
11 |
104,534,789 (GRCm39) |
missense |
probably damaging |
1.00 |
R0637:Itgb3
|
UTSW |
11 |
104,549,702 (GRCm39) |
missense |
probably benign |
0.02 |
R2017:Itgb3
|
UTSW |
11 |
104,528,788 (GRCm39) |
missense |
possibly damaging |
0.70 |
R2045:Itgb3
|
UTSW |
11 |
104,514,239 (GRCm39) |
missense |
probably benign |
|
R2200:Itgb3
|
UTSW |
11 |
104,531,812 (GRCm39) |
splice site |
probably null |
|
R2225:Itgb3
|
UTSW |
11 |
104,556,336 (GRCm39) |
missense |
probably benign |
0.00 |
R2429:Itgb3
|
UTSW |
11 |
104,527,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R3820:Itgb3
|
UTSW |
11 |
104,524,438 (GRCm39) |
nonsense |
probably null |
|
R4863:Itgb3
|
UTSW |
11 |
104,556,346 (GRCm39) |
missense |
probably damaging |
1.00 |
R5116:Itgb3
|
UTSW |
11 |
104,531,903 (GRCm39) |
missense |
probably benign |
0.20 |
R5301:Itgb3
|
UTSW |
11 |
104,524,480 (GRCm39) |
splice site |
probably null |
|
R5933:Itgb3
|
UTSW |
11 |
104,528,805 (GRCm39) |
missense |
possibly damaging |
0.63 |
R6361:Itgb3
|
UTSW |
11 |
104,556,408 (GRCm39) |
missense |
possibly damaging |
0.72 |
R6436:Itgb3
|
UTSW |
11 |
104,524,318 (GRCm39) |
missense |
probably damaging |
0.99 |
R6452:Itgb3
|
UTSW |
11 |
104,524,290 (GRCm39) |
nonsense |
probably null |
|
R7196:Itgb3
|
UTSW |
11 |
104,524,438 (GRCm39) |
nonsense |
probably null |
|
R7438:Itgb3
|
UTSW |
11 |
104,534,403 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8006:Itgb3
|
UTSW |
11 |
104,556,322 (GRCm39) |
missense |
possibly damaging |
0.56 |
R8378:Itgb3
|
UTSW |
11 |
104,533,142 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9052:Itgb3
|
UTSW |
11 |
104,524,413 (GRCm39) |
missense |
probably damaging |
1.00 |
R9055:Itgb3
|
UTSW |
11 |
104,556,451 (GRCm39) |
nonsense |
probably null |
|
Z1176:Itgb3
|
UTSW |
11 |
104,534,449 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGAATGGGTTAGGTTCAGCC -3'
(R):5'- TCATGAACCAAAGACTCCGG -3'
Sequencing Primer
(F):5'- GATGACTGCTGTCCTAAAGATTGTCC -3'
(R):5'- TCCGGAGAACTCAAAGCTCAG -3'
|
Posted On |
2020-01-23 |