Incidental Mutation 'IGL02604:Itgb3'
| ID |
300174 |
| 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: 0.915)
|
| Stock # |
IGL02604
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
104498826-104561302 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104553269 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 709
(E709G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021028
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021028]
|
| AlphaFold |
O54890 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021028
AA Change: E709G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000021028
Gene: ENSMUSG00000020689
AA Change: E709G
| 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
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300002M23Rik |
T |
C |
17: 35,878,845 (GRCm39) |
V61A |
probably benign |
Het |
| Arfgef1 |
G |
A |
1: 10,251,275 (GRCm39) |
|
probably benign |
Het |
| Arhgef4 |
T |
A |
1: 34,850,804 (GRCm39) |
L594* |
probably null |
Het |
| Cacna2d3 |
T |
C |
14: 29,015,066 (GRCm39) |
T375A |
possibly damaging |
Het |
| Calb2 |
A |
C |
8: 110,875,160 (GRCm39) |
Y155D |
probably damaging |
Het |
| Camkmt |
A |
G |
17: 85,404,053 (GRCm39) |
T92A |
possibly damaging |
Het |
| Cfap91 |
A |
G |
16: 38,141,921 (GRCm39) |
|
probably benign |
Het |
| Chsy3 |
A |
G |
18: 59,542,187 (GRCm39) |
S442G |
probably benign |
Het |
| Cyp4f13 |
T |
C |
17: 33,151,395 (GRCm39) |
I173V |
probably benign |
Het |
| Dapk1 |
A |
G |
13: 60,896,134 (GRCm39) |
T741A |
probably benign |
Het |
| Dennd3 |
T |
C |
15: 73,428,252 (GRCm39) |
I866T |
probably damaging |
Het |
| Dhrs2 |
A |
T |
14: 55,474,778 (GRCm39) |
I138F |
possibly damaging |
Het |
| Dscaml1 |
C |
T |
9: 45,655,626 (GRCm39) |
|
probably benign |
Het |
| Fsbp |
A |
G |
4: 11,584,147 (GRCm39) |
E282G |
probably damaging |
Het |
| Hpgds |
A |
T |
6: 65,100,594 (GRCm39) |
L128Q |
probably damaging |
Het |
| Hspa9 |
A |
G |
18: 35,087,266 (GRCm39) |
V13A |
unknown |
Het |
| Jarid2 |
T |
C |
13: 45,027,877 (GRCm39) |
S148P |
probably damaging |
Het |
| Kcna6 |
C |
T |
6: 126,716,167 (GRCm39) |
G241R |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,408,941 (GRCm39) |
N1541K |
probably benign |
Het |
| Kel |
C |
A |
6: 41,664,516 (GRCm39) |
E640D |
probably damaging |
Het |
| Lcp1 |
A |
T |
14: 75,461,566 (GRCm39) |
I520F |
probably benign |
Het |
| Lgr4 |
A |
G |
2: 109,841,658 (GRCm39) |
I524V |
probably damaging |
Het |
| Mup20 |
A |
C |
4: 61,970,141 (GRCm39) |
Y139D |
probably damaging |
Het |
| Notch4 |
T |
C |
17: 34,784,362 (GRCm39) |
|
probably null |
Het |
| Obox7 |
A |
G |
7: 14,399,293 (GRCm39) |
E173G |
probably benign |
Het |
| Or10a49 |
T |
A |
7: 108,467,857 (GRCm39) |
Y168F |
probably benign |
Het |
| Or2a25 |
T |
A |
6: 42,888,992 (GRCm39) |
C178* |
probably null |
Het |
| Or5w22 |
A |
T |
2: 87,362,949 (GRCm39) |
T191S |
probably damaging |
Het |
| Or8b40 |
C |
T |
9: 38,027,148 (GRCm39) |
Q19* |
probably null |
Het |
| Or9i1 |
T |
A |
19: 13,839,170 (GRCm39) |
N4K |
probably benign |
Het |
| Patl2 |
T |
G |
2: 121,955,814 (GRCm39) |
T241P |
possibly damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Plekhg6 |
T |
C |
6: 125,354,342 (GRCm39) |
|
probably benign |
Het |
| Pon1 |
C |
A |
6: 5,168,375 (GRCm39) |
G344V |
probably damaging |
Het |
| Ppp1r21 |
G |
T |
17: 88,880,171 (GRCm39) |
K529N |
probably benign |
Het |
| Prdm15 |
A |
G |
16: 97,623,142 (GRCm39) |
S203P |
probably benign |
Het |
| Psmc2 |
T |
A |
5: 22,000,098 (GRCm39) |
|
probably null |
Het |
| Ptn |
T |
C |
6: 36,692,653 (GRCm39) |
M166V |
unknown |
Het |
| Ptpn13 |
A |
G |
5: 103,649,769 (GRCm39) |
N391D |
probably benign |
Het |
| Rnf214 |
A |
G |
9: 45,780,841 (GRCm39) |
S383P |
probably damaging |
Het |
| Rufy4 |
T |
A |
1: 74,173,348 (GRCm39) |
L438H |
probably damaging |
Het |
| Scarf2 |
A |
G |
16: 17,621,608 (GRCm39) |
T353A |
probably damaging |
Het |
| Serpinb9e |
A |
C |
13: 33,441,742 (GRCm39) |
I225L |
probably benign |
Het |
| Slc25a40 |
T |
C |
5: 8,503,219 (GRCm39) |
V312A |
probably benign |
Het |
| Tmc3 |
A |
G |
7: 83,271,827 (GRCm39) |
Y993C |
possibly damaging |
Het |
| Trim56 |
A |
C |
5: 137,141,930 (GRCm39) |
C529G |
probably damaging |
Het |
| Trim8 |
T |
C |
19: 46,503,917 (GRCm39) |
S490P |
probably damaging |
Het |
| Trmt6 |
A |
T |
2: 132,652,357 (GRCm39) |
Y147* |
probably null |
Het |
| Vmn2r109 |
T |
A |
17: 20,760,963 (GRCm39) |
H798L |
probably damaging |
Het |
| Vps35 |
A |
G |
8: 86,013,018 (GRCm39) |
L153P |
probably damaging |
Het |
| Wdr82 |
T |
C |
9: 106,060,880 (GRCm39) |
I131T |
probably damaging |
Het |
| Zfp69 |
A |
T |
4: 120,788,660 (GRCm39) |
D218E |
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation