Incidental Mutation 'R5116:Itgb3'
ID |
394210 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Itgb3
|
Ensembl Gene |
ENSMUSG00000020689 |
Gene Name |
integrin beta 3 |
Synonyms |
platelet glycoprotein IIIa (GP3A), CD61 |
MMRRC Submission |
042704-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.900)
|
Stock # |
R5116 (G1)
|
Quality Score |
175 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
104498826-104561302 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 104531903 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 370
(V370A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021028
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021028]
|
AlphaFold |
O54890 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021028
AA Change: V370A
PolyPhen 2
Score 0.200 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000021028 Gene: ENSMUSG00000020689 AA Change: V370A
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 |
0.2517 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.5%
|
Validation Efficiency |
97% (59/61) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb9 |
T |
C |
5: 124,216,930 (GRCm39) |
H429R |
probably damaging |
Het |
Adam39 |
G |
T |
8: 41,278,038 (GRCm39) |
C143F |
probably damaging |
Het |
Adamts19 |
T |
C |
18: 59,036,066 (GRCm39) |
V417A |
possibly damaging |
Het |
Adcy10 |
C |
A |
1: 165,347,069 (GRCm39) |
A362E |
probably damaging |
Het |
Akap6 |
A |
G |
12: 53,188,298 (GRCm39) |
E1904G |
probably benign |
Het |
Aldh18a1 |
A |
G |
19: 40,541,949 (GRCm39) |
M89T |
probably benign |
Het |
Alyref |
G |
T |
11: 120,488,554 (GRCm39) |
F91L |
probably benign |
Het |
Capn3 |
G |
T |
2: 120,315,773 (GRCm39) |
M248I |
probably benign |
Het |
Catsper4 |
A |
T |
4: 133,953,991 (GRCm39) |
I56N |
probably damaging |
Het |
Cckbr |
T |
A |
7: 105,082,862 (GRCm39) |
I75N |
probably damaging |
Het |
Ccr8 |
T |
C |
9: 119,923,095 (GRCm39) |
I70T |
probably benign |
Het |
Cdh24 |
T |
C |
14: 54,873,870 (GRCm39) |
D428G |
probably benign |
Het |
Cdk5rap2 |
G |
T |
4: 70,225,475 (GRCm39) |
Q557K |
possibly damaging |
Het |
Clip1 |
C |
T |
5: 123,768,770 (GRCm39) |
A610T |
probably benign |
Het |
Dnajc16 |
A |
T |
4: 141,495,280 (GRCm39) |
Y479* |
probably null |
Het |
Fpr-rs3 |
A |
G |
17: 20,844,562 (GRCm39) |
V193A |
probably benign |
Het |
Gm29125 |
T |
C |
1: 80,361,690 (GRCm39) |
|
noncoding transcript |
Het |
H1f4 |
A |
G |
13: 23,806,270 (GRCm39) |
Y71H |
probably damaging |
Het |
Ifi208 |
A |
G |
1: 173,505,549 (GRCm39) |
|
probably benign |
Het |
Immp1l |
G |
A |
2: 105,795,640 (GRCm39) |
R155H |
probably benign |
Het |
Itgad |
C |
A |
7: 127,803,065 (GRCm39) |
T7K |
probably damaging |
Het |
Jak1 |
A |
G |
4: 101,012,310 (GRCm39) |
I1053T |
probably benign |
Het |
Kif21b |
A |
G |
1: 136,080,521 (GRCm39) |
R572G |
probably damaging |
Het |
Lama2 |
A |
T |
10: 26,994,556 (GRCm39) |
D1784E |
probably benign |
Het |
Ltbp2 |
A |
T |
12: 84,856,511 (GRCm39) |
V651D |
probably damaging |
Het |
Mrpl47 |
A |
G |
3: 32,787,750 (GRCm39) |
L100S |
probably damaging |
Het |
Mx1 |
T |
G |
16: 97,258,679 (GRCm39) |
N6T |
possibly damaging |
Het |
Nde1 |
T |
A |
16: 14,001,351 (GRCm39) |
M133K |
probably benign |
Het |
Nlrc5 |
T |
C |
8: 95,208,488 (GRCm39) |
L778P |
probably damaging |
Het |
Odad3 |
A |
G |
9: 21,901,424 (GRCm39) |
*595Q |
probably null |
Het |
Or52e19b |
G |
A |
7: 103,033,071 (GRCm39) |
T46I |
probably benign |
Het |
Or5l13 |
G |
A |
2: 87,779,873 (GRCm39) |
R235C |
probably benign |
Het |
Or6c3b |
A |
G |
10: 129,527,266 (GRCm39) |
S215P |
probably damaging |
Het |
Or7g32 |
A |
G |
9: 19,389,094 (GRCm39) |
S151P |
possibly damaging |
Het |
Or8b38 |
T |
C |
9: 37,972,634 (GRCm39) |
V6A |
probably benign |
Het |
Otog |
T |
C |
7: 45,923,191 (GRCm39) |
V1022A |
probably benign |
Het |
Pcdhac1 |
G |
A |
18: 37,224,500 (GRCm39) |
V438M |
probably damaging |
Het |
Pcsk5 |
G |
A |
19: 17,440,798 (GRCm39) |
S1264F |
possibly damaging |
Het |
Pfas |
T |
C |
11: 68,881,816 (GRCm39) |
|
probably benign |
Het |
Pigr |
T |
A |
1: 130,776,768 (GRCm39) |
F648I |
probably benign |
Het |
Pla2r1 |
A |
C |
2: 60,279,250 (GRCm39) |
Y777D |
probably damaging |
Het |
Pnpla7 |
G |
T |
2: 24,911,982 (GRCm39) |
G716V |
probably damaging |
Het |
Rab11fip5 |
C |
T |
6: 85,325,789 (GRCm39) |
E206K |
probably damaging |
Het |
S100a10 |
A |
G |
3: 93,468,247 (GRCm39) |
|
probably null |
Het |
Slc35f1 |
T |
C |
10: 52,897,991 (GRCm39) |
I134T |
probably benign |
Het |
Smarcd1 |
C |
T |
15: 99,600,369 (GRCm39) |
A56V |
probably benign |
Het |
Snrk |
A |
G |
9: 121,989,396 (GRCm39) |
T247A |
probably benign |
Het |
Srgap1 |
A |
G |
10: 121,628,284 (GRCm39) |
L896P |
possibly damaging |
Het |
Tmem19 |
A |
T |
10: 115,179,651 (GRCm39) |
F167I |
probably benign |
Het |
Tmprss11f |
T |
C |
5: 86,687,555 (GRCm39) |
S118G |
probably benign |
Het |
Tnc |
A |
G |
4: 63,885,452 (GRCm39) |
|
probably null |
Het |
Trem3 |
T |
C |
17: 48,556,580 (GRCm39) |
L17P |
probably benign |
Het |
Upp2 |
A |
G |
2: 58,661,554 (GRCm39) |
Y67C |
probably damaging |
Het |
Zfp276 |
A |
G |
8: 123,991,716 (GRCm39) |
|
probably benign |
Het |
Zfp932 |
T |
A |
5: 110,157,242 (GRCm39) |
D280E |
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 |
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'- GATACTTCACAGTGCCCTCC -3'
(R):5'- AAGGTCCTATTATGTTCAGTCCCC -3'
Sequencing Primer
(F):5'- GGTGCATGTCATTAATCCCAG -3'
(R):5'- GTATCTAATATTCTCCCACCCACAGG -3'
|
Posted On |
2016-06-15 |