Incidental Mutation 'R1405:Rasa3'
ID |
500230 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rasa3
|
Ensembl Gene |
ENSMUSG00000031453 |
Gene Name |
RAS p21 protein activator 3 |
Synonyms |
GAPIII activator 3, Ras GTPase-activating protein III, scat, hlb381, GAPIII, R-Ras gap |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1405 (G1)
|
Quality Score |
119 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
13617218-13727590 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 13638027 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 339
(V339A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112998
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117551]
|
AlphaFold |
Q60790 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117551
AA Change: V339A
PolyPhen 2
Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000112998 Gene: ENSMUSG00000031453 AA Change: V339A
Domain | Start | End | E-Value | Type |
C2
|
13 |
111 |
2.29e-15 |
SMART |
C2
|
146 |
262 |
1.03e-17 |
SMART |
RasGAP
|
275 |
614 |
3.96e-166 |
SMART |
PH
|
577 |
679 |
5.53e-16 |
SMART |
BTK
|
679 |
715 |
9.16e-19 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137822
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 96.7%
- 10x: 83.5%
- 20x: 53.1%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that binds inositol 1,3,4,5-tetrakisphosphate and stimulates the GTPase activity of Ras p21. This protein functions as a negative regulator of the Ras signalling pathway. It is localized to the cell membrane via a pleckstrin homology (PH) domain in the C-terminal region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016] PHENOTYPE: Mice homozygous for a targeted null mutation die at E12.5-13.5 of massive subcutaneous and intraparenchymal hemorrhage, probably due to underdeveloped adherens junctions between capillary endothelial cells. At E12.5, edema and severe hemorrhaging is frequently observed in the brain and/or rump. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arap1 |
G |
A |
7: 101,047,643 (GRCm39) |
|
probably null |
Het |
Asb8 |
G |
A |
15: 98,039,248 (GRCm39) |
H51Y |
possibly damaging |
Het |
Capn10 |
T |
G |
1: 92,872,744 (GRCm39) |
V490G |
probably benign |
Het |
Ccdc146 |
G |
A |
5: 21,604,730 (GRCm39) |
S36L |
probably benign |
Het |
Celsr1 |
C |
T |
15: 85,789,635 (GRCm39) |
|
probably null |
Het |
Clvs2 |
C |
A |
10: 33,389,256 (GRCm39) |
*328L |
probably null |
Het |
Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
Dstn |
A |
G |
2: 143,780,356 (GRCm39) |
K19E |
probably damaging |
Het |
Ehmt2 |
T |
A |
17: 35,125,553 (GRCm39) |
H134Q |
probably benign |
Het |
Faah |
G |
A |
4: 115,858,345 (GRCm39) |
P411S |
probably damaging |
Het |
Fn1 |
A |
G |
1: 71,681,237 (GRCm39) |
F364L |
probably damaging |
Het |
Gmnc |
A |
T |
16: 26,779,196 (GRCm39) |
N270K |
possibly damaging |
Het |
Grip2 |
A |
T |
6: 91,765,133 (GRCm39) |
|
probably null |
Het |
Hmg20a |
A |
T |
9: 56,384,587 (GRCm39) |
Q119L |
possibly damaging |
Het |
Ipo7 |
T |
C |
7: 109,629,048 (GRCm39) |
I106T |
probably benign |
Het |
Ipo7 |
C |
T |
7: 109,638,456 (GRCm39) |
P241L |
probably damaging |
Het |
Katnb1 |
T |
C |
8: 95,824,801 (GRCm39) |
Y574H |
probably damaging |
Het |
Larp6 |
A |
C |
9: 60,644,849 (GRCm39) |
M330L |
probably benign |
Het |
Lrrc8e |
T |
C |
8: 4,281,754 (GRCm39) |
Y30H |
probably damaging |
Het |
Nop56 |
T |
C |
2: 130,119,868 (GRCm39) |
V420A |
probably benign |
Het |
Nrg1 |
T |
C |
8: 32,407,855 (GRCm39) |
D126G |
probably benign |
Het |
Prdm1 |
T |
A |
10: 44,315,961 (GRCm39) |
N725I |
probably damaging |
Het |
Prl3a1 |
A |
G |
13: 27,459,051 (GRCm39) |
|
probably null |
Het |
Psmd2 |
T |
C |
16: 20,471,034 (GRCm39) |
L59P |
possibly damaging |
Het |
Ptgdr2 |
T |
C |
19: 10,918,395 (GRCm39) |
V304A |
probably benign |
Het |
Sec24c |
G |
A |
14: 20,742,593 (GRCm39) |
|
probably null |
Het |
Serpinb9e |
A |
G |
13: 33,444,009 (GRCm39) |
D343G |
probably benign |
Het |
Sfi1 |
TCGC |
TC |
11: 3,096,254 (GRCm39) |
|
probably null |
Het |
Sfi1 |
CCTCTC |
CCTCTCTC |
11: 3,127,419 (GRCm39) |
|
probably benign |
Het |
Stab1 |
A |
C |
14: 30,870,958 (GRCm39) |
V1297G |
probably benign |
Het |
Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
Tmprss2 |
G |
A |
16: 97,398,005 (GRCm39) |
T57I |
probably benign |
Het |
Tnrc6a |
A |
G |
7: 122,770,301 (GRCm39) |
D697G |
probably damaging |
Het |
Vwa5b2 |
T |
A |
16: 20,423,066 (GRCm39) |
D1021E |
probably benign |
Het |
Wdr46 |
C |
A |
17: 34,168,057 (GRCm39) |
P543Q |
probably damaging |
Het |
Zfp1005 |
T |
A |
2: 150,109,620 (GRCm39) |
Y103* |
probably null |
Het |
Zfp287 |
T |
A |
11: 62,619,137 (GRCm39) |
D119V |
probably damaging |
Het |
Zxdc |
A |
G |
6: 90,361,225 (GRCm39) |
S737G |
possibly damaging |
Het |
|
Other mutations in Rasa3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00423:Rasa3
|
APN |
8 |
13,645,410 (GRCm39) |
unclassified |
probably benign |
|
IGL02112:Rasa3
|
APN |
8 |
13,635,042 (GRCm39) |
splice site |
probably benign |
|
IGL02946:Rasa3
|
APN |
8 |
13,648,280 (GRCm39) |
missense |
probably benign |
0.33 |
IGL03085:Rasa3
|
APN |
8 |
13,635,690 (GRCm39) |
missense |
probably benign |
0.11 |
Box_canyon
|
UTSW |
8 |
13,634,959 (GRCm39) |
nonsense |
probably null |
|
Erasor
|
UTSW |
8 |
13,636,873 (GRCm39) |
critical splice donor site |
probably null |
|
koko_head
|
UTSW |
8 |
13,664,605 (GRCm39) |
missense |
possibly damaging |
0.70 |
Mount_ouray
|
UTSW |
8 |
13,681,811 (GRCm39) |
missense |
possibly damaging |
0.90 |
Poncha_pass
|
UTSW |
8 |
13,645,373 (GRCm39) |
missense |
possibly damaging |
0.46 |
Tabula
|
UTSW |
8 |
13,635,029 (GRCm39) |
missense |
probably damaging |
1.00 |
Ute
|
UTSW |
8 |
13,632,381 (GRCm39) |
splice site |
probably benign |
|
PIT4531001:Rasa3
|
UTSW |
8 |
13,655,887 (GRCm39) |
missense |
probably benign |
0.11 |
R0193:Rasa3
|
UTSW |
8 |
13,620,233 (GRCm39) |
splice site |
probably null |
|
R0710:Rasa3
|
UTSW |
8 |
13,633,830 (GRCm39) |
missense |
probably damaging |
1.00 |
R0726:Rasa3
|
UTSW |
8 |
13,630,118 (GRCm39) |
splice site |
probably benign |
|
R1405:Rasa3
|
UTSW |
8 |
13,638,027 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1797:Rasa3
|
UTSW |
8 |
13,632,372 (GRCm39) |
missense |
probably benign |
0.44 |
R1828:Rasa3
|
UTSW |
8 |
13,635,035 (GRCm39) |
missense |
probably benign |
0.02 |
R1895:Rasa3
|
UTSW |
8 |
13,681,768 (GRCm39) |
splice site |
probably benign |
|
R2090:Rasa3
|
UTSW |
8 |
13,632,381 (GRCm39) |
splice site |
probably benign |
|
R2374:Rasa3
|
UTSW |
8 |
13,627,411 (GRCm39) |
missense |
probably damaging |
1.00 |
R2655:Rasa3
|
UTSW |
8 |
13,645,373 (GRCm39) |
missense |
possibly damaging |
0.46 |
R3703:Rasa3
|
UTSW |
8 |
13,638,972 (GRCm39) |
missense |
probably benign |
|
R3899:Rasa3
|
UTSW |
8 |
13,628,635 (GRCm39) |
missense |
probably benign |
0.21 |
R4230:Rasa3
|
UTSW |
8 |
13,620,264 (GRCm39) |
missense |
possibly damaging |
0.47 |
R4256:Rasa3
|
UTSW |
8 |
13,664,532 (GRCm39) |
critical splice donor site |
probably null |
|
R4281:Rasa3
|
UTSW |
8 |
13,638,946 (GRCm39) |
missense |
probably benign |
0.01 |
R4498:Rasa3
|
UTSW |
8 |
13,664,587 (GRCm39) |
missense |
probably benign |
0.01 |
R4558:Rasa3
|
UTSW |
8 |
13,648,259 (GRCm39) |
missense |
probably damaging |
0.96 |
R4559:Rasa3
|
UTSW |
8 |
13,648,259 (GRCm39) |
missense |
probably damaging |
0.96 |
R4647:Rasa3
|
UTSW |
8 |
13,638,865 (GRCm39) |
missense |
probably null |
0.00 |
R4702:Rasa3
|
UTSW |
8 |
13,620,394 (GRCm39) |
missense |
probably benign |
0.09 |
R4772:Rasa3
|
UTSW |
8 |
13,648,289 (GRCm39) |
missense |
probably damaging |
1.00 |
R4774:Rasa3
|
UTSW |
8 |
13,627,501 (GRCm39) |
missense |
probably benign |
0.07 |
R4807:Rasa3
|
UTSW |
8 |
13,664,633 (GRCm39) |
missense |
probably damaging |
1.00 |
R5008:Rasa3
|
UTSW |
8 |
13,634,959 (GRCm39) |
nonsense |
probably null |
|
R5043:Rasa3
|
UTSW |
8 |
13,620,368 (GRCm39) |
missense |
possibly damaging |
0.59 |
R5352:Rasa3
|
UTSW |
8 |
13,681,778 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5435:Rasa3
|
UTSW |
8 |
13,681,811 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6207:Rasa3
|
UTSW |
8 |
13,648,251 (GRCm39) |
missense |
possibly damaging |
0.67 |
R6733:Rasa3
|
UTSW |
8 |
13,630,037 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6855:Rasa3
|
UTSW |
8 |
13,635,029 (GRCm39) |
missense |
probably damaging |
1.00 |
R7024:Rasa3
|
UTSW |
8 |
13,681,826 (GRCm39) |
missense |
probably benign |
0.29 |
R7100:Rasa3
|
UTSW |
8 |
13,636,897 (GRCm39) |
missense |
probably benign |
0.02 |
R7322:Rasa3
|
UTSW |
8 |
13,645,857 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7394:Rasa3
|
UTSW |
8 |
13,645,353 (GRCm39) |
missense |
probably benign |
0.03 |
R7478:Rasa3
|
UTSW |
8 |
13,664,605 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7486:Rasa3
|
UTSW |
8 |
13,640,201 (GRCm39) |
critical splice donor site |
probably null |
|
R7554:Rasa3
|
UTSW |
8 |
13,645,390 (GRCm39) |
missense |
probably damaging |
0.99 |
R7575:Rasa3
|
UTSW |
8 |
13,645,887 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7641:Rasa3
|
UTSW |
8 |
13,634,961 (GRCm39) |
missense |
probably benign |
0.11 |
R7667:Rasa3
|
UTSW |
8 |
13,638,015 (GRCm39) |
missense |
probably benign |
0.27 |
R7751:Rasa3
|
UTSW |
8 |
13,618,708 (GRCm39) |
missense |
probably benign |
0.18 |
R7999:Rasa3
|
UTSW |
8 |
13,681,805 (GRCm39) |
missense |
probably benign |
0.04 |
R8039:Rasa3
|
UTSW |
8 |
13,638,931 (GRCm39) |
missense |
probably damaging |
1.00 |
R8125:Rasa3
|
UTSW |
8 |
13,627,801 (GRCm39) |
splice site |
probably null |
|
R8514:Rasa3
|
UTSW |
8 |
13,631,322 (GRCm39) |
missense |
probably benign |
0.02 |
R8726:Rasa3
|
UTSW |
8 |
13,626,381 (GRCm39) |
missense |
probably benign |
0.00 |
R8728:Rasa3
|
UTSW |
8 |
13,636,873 (GRCm39) |
critical splice donor site |
probably null |
|
R8790:Rasa3
|
UTSW |
8 |
13,727,391 (GRCm39) |
critical splice donor site |
probably null |
|
R9036:Rasa3
|
UTSW |
8 |
13,645,851 (GRCm39) |
missense |
probably benign |
0.06 |
R9483:Rasa3
|
UTSW |
8 |
13,630,033 (GRCm39) |
critical splice donor site |
probably null |
|
R9602:Rasa3
|
UTSW |
8 |
13,681,844 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
|
Posted On |
2017-12-01 |