Incidental Mutation 'R9483:Rasa3'
| ID |
716377 |
| 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 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9483 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
13617218-13727590 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 13630033 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112998
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117551]
|
| AlphaFold |
Q60790 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000117551
|
| SMART Domains |
Protein: ENSMUSP00000112998
Gene: ENSMUSG00000031453
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
A |
T |
5: 113,339,010 (GRCm39) |
M334K |
probably benign |
Het |
| Abca1 |
A |
T |
4: 53,060,351 (GRCm39) |
I1525N |
probably benign |
Het |
| Abca4 |
A |
T |
3: 121,879,275 (GRCm39) |
I398F |
|
Het |
| Acbd3 |
A |
G |
1: 180,572,721 (GRCm39) |
D327G |
probably benign |
Het |
| Acsm3 |
A |
G |
7: 119,383,166 (GRCm39) |
T544A |
probably damaging |
Het |
| Atp11a |
C |
T |
8: 12,901,087 (GRCm39) |
T972M |
probably damaging |
Het |
| Cbfb |
C |
T |
8: 105,929,123 (GRCm39) |
R147* |
probably null |
Het |
| Ccdc17 |
G |
T |
4: 116,454,144 (GRCm39) |
R54L |
probably benign |
Het |
| Cracdl |
T |
G |
1: 37,670,496 (GRCm39) |
E148A |
probably damaging |
Het |
| Cuedc2 |
G |
T |
19: 46,319,399 (GRCm39) |
A223E |
probably benign |
Het |
| Cul5 |
T |
C |
9: 53,532,474 (GRCm39) |
I787V |
probably benign |
Het |
| D430041D05Rik |
T |
A |
2: 104,087,563 (GRCm39) |
H471L |
probably benign |
Het |
| Ddx39a |
T |
C |
8: 84,448,916 (GRCm39) |
Y264H |
probably benign |
Het |
| Dlgap3 |
C |
A |
4: 127,127,665 (GRCm39) |
R778S |
probably damaging |
Het |
| Esrrg |
T |
C |
1: 187,930,848 (GRCm39) |
V313A |
probably damaging |
Het |
| Fam124a |
T |
C |
14: 62,844,100 (GRCm39) |
I536T |
probably damaging |
Het |
| Fbxo21 |
T |
C |
5: 118,127,272 (GRCm39) |
F275L |
possibly damaging |
Het |
| Gabrg1 |
C |
A |
5: 70,999,558 (GRCm39) |
G2V |
possibly damaging |
Het |
| Gcc1 |
G |
T |
6: 28,418,089 (GRCm39) |
A748D |
probably damaging |
Het |
| Gjb6 |
T |
C |
14: 57,361,511 (GRCm39) |
D250G |
probably benign |
Het |
| Gm44501 |
A |
T |
17: 40,889,872 (GRCm39) |
K129* |
probably null |
Het |
| Hmcn2 |
T |
G |
2: 31,320,375 (GRCm39) |
L3952R |
|
Het |
| Hpd |
A |
G |
5: 123,312,535 (GRCm39) |
I278T |
probably damaging |
Het |
| Igsf3 |
T |
A |
3: 101,346,904 (GRCm39) |
F613Y |
probably damaging |
Het |
| Igsf3 |
T |
C |
3: 101,346,817 (GRCm39) |
F584S |
probably damaging |
Het |
| Ik |
A |
G |
18: 36,886,635 (GRCm39) |
D369G |
probably benign |
Het |
| Ikbke |
A |
G |
1: 131,198,719 (GRCm39) |
L365P |
probably damaging |
Het |
| Il22ra2 |
A |
T |
10: 19,508,542 (GRCm39) |
Q190L |
possibly damaging |
Het |
| Itga6 |
T |
C |
2: 71,679,834 (GRCm39) |
V1033A |
probably benign |
Het |
| Kif18a |
T |
C |
2: 109,120,032 (GRCm39) |
Y112H |
probably damaging |
Het |
| Krt75 |
T |
C |
15: 101,482,238 (GRCm39) |
H10R |
probably benign |
Het |
| L3mbtl1 |
T |
A |
2: 162,790,734 (GRCm39) |
L93H |
probably benign |
Het |
| Lrfn1 |
G |
A |
7: 28,158,183 (GRCm39) |
C34Y |
probably damaging |
Het |
| Lrrc47 |
A |
T |
4: 154,101,920 (GRCm39) |
I396F |
probably damaging |
Het |
| Mgat3 |
T |
A |
15: 80,095,641 (GRCm39) |
V156E |
probably benign |
Het |
| Mtus2 |
A |
G |
5: 148,232,300 (GRCm39) |
D1120G |
possibly damaging |
Het |
| Muc5ac |
G |
T |
7: 141,365,465 (GRCm39) |
E2700* |
probably null |
Het |
| Nxpe5 |
A |
T |
5: 138,228,591 (GRCm39) |
|
probably benign |
Het |
| Or51v15-ps1 |
T |
C |
7: 103,278,931 (GRCm39) |
T79A |
probably damaging |
Het |
| Or5aq6 |
A |
T |
2: 86,923,390 (GRCm39) |
M117K |
possibly damaging |
Het |
| Pcdhga4 |
T |
A |
18: 37,819,746 (GRCm39) |
S432T |
possibly damaging |
Het |
| Pdk4 |
T |
A |
6: 5,486,716 (GRCm39) |
M353L |
probably benign |
Het |
| Ppp1r13b |
T |
A |
12: 111,800,210 (GRCm39) |
K645N |
probably benign |
Het |
| Ppt1 |
A |
T |
4: 122,751,367 (GRCm39) |
D288V |
possibly damaging |
Het |
| Prkcb |
A |
G |
7: 122,181,663 (GRCm39) |
Y417C |
probably damaging |
Het |
| Prss22 |
A |
G |
17: 24,215,721 (GRCm39) |
I67T |
probably damaging |
Het |
| Rab29 |
T |
C |
1: 131,795,508 (GRCm39) |
V40A |
possibly damaging |
Het |
| Rae1 |
T |
C |
2: 172,849,941 (GRCm39) |
|
probably null |
Het |
| Rasgrp3 |
A |
G |
17: 75,807,717 (GRCm39) |
D258G |
probably benign |
Het |
| Rcc1 |
T |
A |
4: 132,062,808 (GRCm39) |
T208S |
probably benign |
Het |
| Rgs3 |
C |
A |
4: 62,575,354 (GRCm39) |
Y580* |
probably null |
Het |
| Rpe65 |
C |
T |
3: 159,328,318 (GRCm39) |
P405S |
probably damaging |
Het |
| Rsf1 |
GGCGGC |
GGCGGCGGCAGCGGC |
7: 97,229,137 (GRCm39) |
|
probably benign |
Het |
| Rsph4a |
A |
G |
10: 33,790,418 (GRCm39) |
E669G |
probably damaging |
Het |
| Rusc1 |
A |
T |
3: 88,994,113 (GRCm39) |
V964E |
probably benign |
Het |
| Rusc2 |
A |
G |
4: 43,415,897 (GRCm39) |
N401S |
probably damaging |
Het |
| Slc10a1 |
G |
T |
12: 81,002,864 (GRCm39) |
T258K |
probably damaging |
Het |
| Slc5a9 |
A |
G |
4: 111,747,418 (GRCm39) |
L323P |
probably damaging |
Het |
| Slc6a17 |
T |
A |
3: 107,378,772 (GRCm39) |
I637F |
possibly damaging |
Het |
| Slc8a2 |
A |
G |
7: 15,886,780 (GRCm39) |
E641G |
possibly damaging |
Het |
| Sptbn2 |
G |
T |
19: 4,789,974 (GRCm39) |
A1321S |
probably damaging |
Het |
| Ssh2 |
G |
T |
11: 77,283,976 (GRCm39) |
A77S |
possibly damaging |
Het |
| St13 |
G |
T |
15: 81,250,587 (GRCm39) |
N316K |
probably damaging |
Het |
| Taf10 |
A |
G |
7: 105,393,062 (GRCm39) |
M121T |
probably benign |
Het |
| Tcta |
T |
C |
9: 108,182,942 (GRCm39) |
T68A |
probably damaging |
Het |
| Timd2 |
A |
T |
11: 46,577,889 (GRCm39) |
Y81N |
probably damaging |
Het |
| Tln2 |
T |
C |
9: 67,299,769 (GRCm39) |
E161G |
probably damaging |
Het |
| Tmed10 |
T |
C |
12: 85,397,621 (GRCm39) |
I123V |
probably benign |
Het |
| Ttf1 |
T |
C |
2: 28,969,492 (GRCm39) |
|
probably null |
Het |
| Tubg1 |
A |
G |
11: 101,016,886 (GRCm39) |
D396G |
probably damaging |
Het |
| Uhmk1 |
A |
G |
1: 170,034,913 (GRCm39) |
|
probably null |
Het |
| Unc13a |
C |
T |
8: 72,103,221 (GRCm39) |
A922T |
probably benign |
Het |
| Usp24 |
T |
A |
4: 106,219,379 (GRCm39) |
V525E |
probably damaging |
Het |
| Usp28 |
C |
A |
9: 48,947,037 (GRCm39) |
Q823K |
probably damaging |
Het |
| Vldlr |
A |
T |
19: 27,224,031 (GRCm39) |
I764F |
probably benign |
Het |
| Vmn2r88 |
T |
C |
14: 51,648,641 (GRCm39) |
Y62H |
|
Het |
| Zfp423 |
T |
A |
8: 88,507,725 (GRCm39) |
N873I |
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 |
|
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 |
|
R9602:Rasa3
|
UTSW |
8 |
13,681,844 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGACCTAGCCAAACAGTCTC -3'
(R):5'- CAGATCTCTCCACTGGGTTCAG -3'
Sequencing Primer
(F):5'- TCTCAACTAGGGACTGGGATC -3'
(R):5'- ACTGGGTTCAGGGGCAGTC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation