Incidental Mutation 'R0042:Itgb3'
ID |
15525 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Itgb3
|
Ensembl Gene |
ENSMUSG00000020689 |
Gene Name |
integrin beta 3 |
Synonyms |
platelet glycoprotein IIIa (GP3A), CD61 |
MMRRC Submission |
038336-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.915)
|
Stock # |
R0042 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
104498826-104561302 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 104557966 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 787
(T787A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021028
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021028]
|
AlphaFold |
O54890 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021028
AA Change: T787A
PolyPhen 2
Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000021028 Gene: ENSMUSG00000020689 AA Change: T787A
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127140
|
Meta Mutation Damage Score |
0.0596 |
Coding Region Coverage |
- 1x: 81.9%
- 3x: 73.7%
- 10x: 53.7%
- 20x: 34.5%
|
Validation Efficiency |
94% (58/62) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
C |
T |
4: 53,059,245 (GRCm39) |
|
probably benign |
Het |
Adgrf3 |
A |
G |
5: 30,402,426 (GRCm39) |
L534P |
probably damaging |
Het |
Ank2 |
T |
C |
3: 126,730,280 (GRCm39) |
D3568G |
probably damaging |
Het |
Atr |
T |
A |
9: 95,809,409 (GRCm39) |
|
probably benign |
Het |
Ccnb2 |
A |
G |
9: 70,326,335 (GRCm39) |
V34A |
probably benign |
Het |
Dmxl1 |
C |
A |
18: 49,997,102 (GRCm39) |
T466K |
probably benign |
Het |
Eya1 |
T |
C |
1: 14,254,713 (GRCm39) |
D373G |
probably damaging |
Het |
Fam120a |
A |
G |
13: 49,087,490 (GRCm39) |
V290A |
probably damaging |
Het |
Gpr179 |
C |
T |
11: 97,225,757 (GRCm39) |
V2133I |
probably benign |
Het |
Grb10 |
G |
T |
11: 11,886,798 (GRCm39) |
H435Q |
probably damaging |
Het |
Gzmm |
T |
C |
10: 79,530,399 (GRCm39) |
I190T |
probably benign |
Het |
H2-Q3 |
A |
G |
17: 35,578,823 (GRCm39) |
|
noncoding transcript |
Het |
Hspb7 |
A |
G |
4: 141,151,245 (GRCm39) |
E129G |
probably damaging |
Het |
Il17ra |
T |
C |
6: 120,449,086 (GRCm39) |
|
probably benign |
Het |
Krt4 |
T |
G |
15: 101,831,187 (GRCm39) |
|
probably benign |
Het |
Lgsn |
C |
T |
1: 31,229,534 (GRCm39) |
T85I |
probably benign |
Het |
Metap1 |
C |
T |
3: 138,177,918 (GRCm39) |
V217I |
probably benign |
Het |
Mib2 |
A |
T |
4: 155,743,897 (GRCm39) |
C48* |
probably null |
Het |
Mroh4 |
T |
A |
15: 74,482,154 (GRCm39) |
I768F |
probably damaging |
Het |
Npas3 |
T |
A |
12: 54,095,624 (GRCm39) |
D361E |
probably damaging |
Het |
P4hb |
G |
A |
11: 120,459,092 (GRCm39) |
R134C |
probably damaging |
Het |
Prr35 |
C |
A |
17: 26,166,956 (GRCm39) |
E194* |
probably null |
Het |
Rbl1 |
A |
G |
2: 157,017,624 (GRCm39) |
|
probably benign |
Het |
Rdh10 |
T |
A |
1: 16,178,260 (GRCm39) |
|
probably benign |
Het |
Spata31 |
A |
T |
13: 65,070,377 (GRCm39) |
I842L |
probably benign |
Het |
Stk32b |
A |
C |
5: 37,874,092 (GRCm39) |
D13E |
probably benign |
Het |
Svep1 |
T |
C |
4: 58,123,192 (GRCm39) |
D708G |
possibly damaging |
Het |
Taar6 |
T |
C |
10: 23,861,021 (GRCm39) |
D175G |
probably benign |
Het |
Tmod4 |
T |
C |
3: 95,037,099 (GRCm39) |
D164G |
possibly damaging |
Het |
Ttc23l |
A |
C |
15: 10,551,627 (GRCm39) |
L33W |
probably damaging |
Het |
Ttc39d |
T |
C |
17: 80,523,379 (GRCm39) |
Y13H |
probably benign |
Het |
Utp18 |
G |
T |
11: 93,766,684 (GRCm39) |
T309K |
probably damaging |
Het |
Vps11 |
G |
T |
9: 44,267,588 (GRCm39) |
Y341* |
probably null |
Het |
Vsig8 |
T |
C |
1: 172,387,925 (GRCm39) |
V5A |
possibly 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 |
|
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 |
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 |
2012-12-21 |