Incidental Mutation 'R0042:Itgb3'
| ID |
63255 |
| 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 |
114 |
|
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: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.8%
|
| Validation Efficiency |
100% (71/71) |
| 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 |
|---|
| Abca1 |
C |
T |
4: 53,059,245 (GRCm39) |
|
probably benign |
Het |
| Acr |
T |
A |
15: 89,458,535 (GRCm39) |
H405Q |
probably benign |
Het |
| Adad1 |
T |
C |
3: 37,137,322 (GRCm39) |
|
probably benign |
Het |
| Alox5ap |
T |
C |
5: 149,216,069 (GRCm39) |
|
probably benign |
Het |
| Ank2 |
T |
C |
3: 126,730,280 (GRCm39) |
D3568G |
probably damaging |
Het |
| Atl3 |
T |
G |
19: 7,506,388 (GRCm39) |
I306S |
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 |
| Cdh12 |
A |
C |
15: 21,537,763 (GRCm39) |
|
probably benign |
Het |
| Cib1 |
C |
T |
7: 79,880,126 (GRCm39) |
V45M |
probably benign |
Het |
| Col6a6 |
T |
C |
9: 105,657,896 (GRCm39) |
E772G |
possibly damaging |
Het |
| Dmxl1 |
C |
A |
18: 49,997,102 (GRCm39) |
T466K |
probably benign |
Het |
| Dym |
T |
C |
18: 75,258,610 (GRCm39) |
|
probably null |
Het |
| Enpp3 |
A |
C |
10: 24,650,722 (GRCm39) |
F805V |
probably damaging |
Het |
| Eya1 |
T |
C |
1: 14,254,713 (GRCm39) |
D373G |
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 |
| Helt |
T |
C |
8: 46,745,433 (GRCm39) |
Y150C |
probably damaging |
Het |
| Hrg |
A |
T |
16: 22,779,886 (GRCm39) |
|
probably benign |
Het |
| Il17ra |
T |
C |
6: 120,449,086 (GRCm39) |
|
probably benign |
Het |
| Inhbc |
A |
G |
10: 127,193,302 (GRCm39) |
I238T |
probably benign |
Het |
| Jakmip2 |
T |
G |
18: 43,685,210 (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 |
| Obscn |
A |
G |
11: 58,943,411 (GRCm39) |
L4246P |
probably damaging |
Het |
| Or4a78 |
A |
C |
2: 89,497,798 (GRCm39) |
V144G |
probably benign |
Het |
| Or7e169 |
A |
G |
9: 19,757,075 (GRCm39) |
M280T |
probably benign |
Het |
| Or8h7 |
A |
G |
2: 86,720,835 (GRCm39) |
I228T |
probably damaging |
Het |
| P4hb |
G |
A |
11: 120,459,092 (GRCm39) |
R134C |
probably damaging |
Het |
| Plcb3 |
T |
C |
19: 6,943,788 (GRCm39) |
D71G |
probably damaging |
Het |
| Prex2 |
T |
A |
1: 11,150,305 (GRCm39) |
V159E |
probably damaging |
Het |
| Prpsap1 |
T |
A |
11: 116,370,482 (GRCm39) |
K158N |
probably benign |
Het |
| Prr35 |
C |
A |
17: 26,166,956 (GRCm39) |
E194* |
probably null |
Het |
| Ptger1 |
G |
T |
8: 84,394,795 (GRCm39) |
V91L |
probably benign |
Het |
| Rdh10 |
T |
C |
1: 16,178,260 (GRCm39) |
|
probably benign |
Het |
| Rgs9bp |
C |
A |
7: 35,284,458 (GRCm39) |
R63L |
probably damaging |
Het |
| Slc13a5 |
A |
T |
11: 72,149,940 (GRCm39) |
V173E |
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 |
| Thbs1 |
A |
C |
2: 117,953,358 (GRCm39) |
D925A |
probably damaging |
Het |
| Tnr |
A |
T |
1: 159,714,595 (GRCm39) |
T825S |
probably benign |
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 |
| Vmn2r102 |
C |
A |
17: 19,880,851 (GRCm39) |
P64Q |
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 |
| Vwce |
C |
T |
19: 10,624,177 (GRCm39) |
A356V |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGGCAGACCAGCAATACAGC -3'
(R):5'- GCTTCTCAGAGGTAATGAGCACCTG -3'
Sequencing Primer
(F):5'- TTCCCATCCTAAGAGTTGATGAG -3'
(R):5'- TCTGCCTGTGAGACACATC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation