Incidental Mutation 'IGL02057:Itgb3'
| ID |
185251 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Itgb3
|
| Ensembl Gene |
ENSMUSG00000020689 |
| Gene Name |
integrin beta 3 |
| Synonyms |
platelet glycoprotein IIIa (GP3A), CD61 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.900)
|
| Stock # |
IGL02057
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
104498826-104561302 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 104523174 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 113
(I113F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021028
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021028]
|
| AlphaFold |
O54890 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021028
AA Change: I113F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000021028
Gene: ENSMUSG00000020689
AA Change: I113F
| 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 |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankk1 |
T |
C |
9: 49,328,072 (GRCm39) |
N369S |
probably damaging |
Het |
| Atp13a3 |
C |
T |
16: 30,151,182 (GRCm39) |
A1043T |
probably benign |
Het |
| AY358078 |
G |
A |
14: 52,057,762 (GRCm39) |
V287I |
unknown |
Het |
| Cemip |
T |
C |
7: 83,636,661 (GRCm39) |
E324G |
probably damaging |
Het |
| Ckap5 |
T |
A |
2: 91,431,052 (GRCm39) |
D1487E |
possibly damaging |
Het |
| Dscam |
G |
A |
16: 96,517,273 (GRCm39) |
Q879* |
probably null |
Het |
| Eci2 |
A |
G |
13: 35,174,759 (GRCm39) |
L50P |
probably damaging |
Het |
| Erp44 |
A |
T |
4: 48,236,964 (GRCm39) |
H65Q |
probably benign |
Het |
| Fahd1 |
A |
T |
17: 25,068,570 (GRCm39) |
I169N |
probably damaging |
Het |
| Galm |
T |
C |
17: 80,488,996 (GRCm39) |
I214T |
probably benign |
Het |
| Gipc3 |
T |
A |
10: 81,178,968 (GRCm39) |
N42Y |
probably damaging |
Het |
| H2-Eb2 |
A |
T |
17: 34,554,741 (GRCm39) |
|
probably benign |
Het |
| Lef1 |
T |
G |
3: 130,994,051 (GRCm39) |
Y342* |
probably null |
Het |
| Lilrb4a |
G |
A |
10: 51,368,103 (GRCm39) |
D168N |
possibly damaging |
Het |
| Or51b6b |
T |
A |
7: 103,309,860 (GRCm39) |
Y199F |
probably damaging |
Het |
| Or5m10 |
T |
A |
2: 85,717,275 (GRCm39) |
F44I |
probably benign |
Het |
| Orc1 |
T |
G |
4: 108,445,926 (GRCm39) |
S15A |
possibly damaging |
Het |
| Pdk2 |
C |
T |
11: 94,919,324 (GRCm39) |
G317D |
probably benign |
Het |
| Rab37 |
T |
C |
11: 115,051,543 (GRCm39) |
S217P |
probably benign |
Het |
| Rere |
C |
T |
4: 150,699,289 (GRCm39) |
|
probably benign |
Het |
| Scn11a |
C |
T |
9: 119,594,536 (GRCm39) |
G1286S |
probably damaging |
Het |
| Sirt1 |
A |
G |
10: 63,160,982 (GRCm39) |
S357P |
probably damaging |
Het |
| Smpdl3b |
T |
A |
4: 132,461,024 (GRCm39) |
E351V |
probably benign |
Het |
| Sox6 |
C |
A |
7: 115,149,310 (GRCm39) |
G355W |
probably damaging |
Het |
| Spopfm2 |
T |
A |
3: 94,083,662 (GRCm39) |
S50C |
probably damaging |
Het |
| Srpk2 |
G |
T |
5: 23,723,705 (GRCm39) |
A502E |
probably damaging |
Het |
| Trim67 |
G |
A |
8: 125,549,869 (GRCm39) |
V500I |
probably benign |
Het |
| Ube2v2 |
A |
G |
16: 15,394,922 (GRCm39) |
V83A |
probably benign |
Het |
| Usp43 |
A |
T |
11: 67,747,113 (GRCm39) |
S865T |
probably benign |
Het |
| Vdac1 |
G |
A |
11: 52,267,371 (GRCm39) |
|
probably null |
Het |
| Vmn2r69 |
T |
A |
7: 85,060,990 (GRCm39) |
H198L |
possibly damaging |
Het |
| Vmn2r93 |
T |
C |
17: 18,546,032 (GRCm39) |
C635R |
probably damaging |
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 |
|
|
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 |
|
R8068:Itgb3
|
UTSW |
11 |
104,556,337 (GRCm39) |
missense |
probably benign |
0.35 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation