Incidental Mutation 'R3899:Rasa3'
ID |
308868 |
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 |
040809-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3899 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
13617218-13727590 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 13628635 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 608
(H608Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112998
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117551]
|
AlphaFold |
Q60790 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000117551
AA Change: H608Y
PolyPhen 2
Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000112998 Gene: ENSMUSG00000031453 AA Change: H608Y
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: ENSMUST00000127418
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137822
|
Meta Mutation Damage Score |
0.0940 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
98% (62/63) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss2 |
A |
G |
2: 155,399,157 (GRCm39) |
|
probably benign |
Het |
Ahctf1 |
A |
G |
1: 179,605,345 (GRCm39) |
S730P |
possibly damaging |
Het |
Ankrd26 |
T |
A |
6: 118,526,389 (GRCm39) |
R327S |
probably benign |
Het |
Anpep |
A |
G |
7: 79,488,973 (GRCm39) |
S372P |
probably benign |
Het |
Apob |
A |
T |
12: 8,065,849 (GRCm39) |
I4273F |
possibly damaging |
Het |
Ascl1 |
G |
T |
10: 87,328,435 (GRCm39) |
H172Q |
probably benign |
Het |
Azi2 |
A |
G |
9: 117,876,571 (GRCm39) |
Y29C |
probably damaging |
Het |
Baz1a |
A |
G |
12: 54,981,589 (GRCm39) |
M355T |
probably benign |
Het |
Brs3 |
G |
A |
X: 56,092,616 (GRCm39) |
V367M |
possibly damaging |
Het |
Ccdc33 |
T |
C |
9: 57,940,200 (GRCm39) |
D524G |
probably damaging |
Het |
Cd300lf |
T |
C |
11: 115,015,177 (GRCm39) |
T138A |
probably damaging |
Het |
Cemip2 |
A |
G |
19: 21,829,598 (GRCm39) |
T1236A |
probably benign |
Het |
Ces1g |
T |
C |
8: 94,029,678 (GRCm39) |
Y518C |
probably damaging |
Het |
Chek2 |
C |
T |
5: 111,013,479 (GRCm39) |
|
probably benign |
Het |
Cherp |
A |
G |
8: 73,223,780 (GRCm39) |
I201T |
possibly damaging |
Het |
Cntnap2 |
A |
T |
6: 45,968,837 (GRCm39) |
H193L |
probably benign |
Het |
Crim1 |
C |
A |
17: 78,588,783 (GRCm39) |
T286N |
probably benign |
Het |
Cwc27 |
T |
A |
13: 104,929,023 (GRCm39) |
K307* |
probably null |
Het |
Dbx2 |
T |
C |
15: 95,530,313 (GRCm39) |
D218G |
possibly damaging |
Het |
Dclk1 |
G |
A |
3: 55,154,750 (GRCm39) |
R60Q |
probably damaging |
Het |
Dnah17 |
A |
T |
11: 117,985,634 (GRCm39) |
I1481N |
possibly damaging |
Het |
Dnah8 |
G |
A |
17: 31,073,872 (GRCm39) |
R4514H |
probably damaging |
Het |
Dpp10 |
A |
T |
1: 123,281,286 (GRCm39) |
W588R |
probably damaging |
Het |
Epg5 |
G |
A |
18: 78,000,725 (GRCm39) |
E554K |
probably damaging |
Het |
Eya1 |
T |
C |
1: 14,340,971 (GRCm39) |
T139A |
probably benign |
Het |
Fchsd2 |
A |
G |
7: 100,841,006 (GRCm39) |
K172E |
possibly damaging |
Het |
Foxd3 |
A |
G |
4: 99,545,736 (GRCm39) |
Y292C |
unknown |
Het |
Gli1 |
C |
T |
10: 127,172,535 (GRCm39) |
M202I |
possibly damaging |
Het |
Gm973 |
T |
C |
1: 59,664,299 (GRCm39) |
Y634H |
probably benign |
Het |
Gpr132 |
G |
T |
12: 112,815,728 (GRCm39) |
A366E |
probably benign |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Kcnq3 |
C |
T |
15: 65,902,372 (GRCm39) |
M201I |
probably benign |
Het |
Khdc3 |
T |
C |
9: 73,011,628 (GRCm39) |
|
probably benign |
Het |
Lrrc37a |
A |
G |
11: 103,388,372 (GRCm39) |
V2351A |
unknown |
Het |
Mmrn2 |
G |
T |
14: 34,121,517 (GRCm39) |
|
probably null |
Het |
Mtr |
A |
T |
13: 12,231,735 (GRCm39) |
N656K |
probably benign |
Het |
Mtus1 |
T |
C |
8: 41,536,166 (GRCm39) |
T517A |
probably benign |
Het |
Osgep |
G |
C |
14: 51,162,200 (GRCm39) |
N12K |
probably damaging |
Het |
Pcare |
A |
T |
17: 72,057,155 (GRCm39) |
C841S |
probably benign |
Het |
Prdx3 |
T |
A |
19: 60,853,621 (GRCm39) |
T235S |
probably benign |
Het |
Rd3 |
T |
C |
1: 191,717,217 (GRCm39) |
V114A |
probably damaging |
Het |
Setd2 |
C |
T |
9: 110,421,586 (GRCm39) |
R273W |
probably damaging |
Het |
Slc24a1 |
A |
T |
9: 64,835,426 (GRCm39) |
S900R |
probably damaging |
Het |
Slc30a5 |
T |
C |
13: 100,954,655 (GRCm39) |
M170V |
probably benign |
Het |
Slc4a9 |
T |
C |
18: 36,668,616 (GRCm39) |
V732A |
probably benign |
Het |
Slc7a2 |
C |
T |
8: 41,358,590 (GRCm39) |
T311M |
possibly damaging |
Het |
Smarcc1 |
T |
C |
9: 109,947,586 (GRCm39) |
|
probably benign |
Het |
Stk32b |
A |
G |
5: 37,614,498 (GRCm39) |
S337P |
probably damaging |
Het |
Thop1 |
G |
A |
10: 80,916,278 (GRCm39) |
G429S |
probably damaging |
Het |
Timp2 |
C |
T |
11: 118,194,542 (GRCm39) |
D139N |
probably damaging |
Het |
Tmem45a |
T |
C |
16: 56,627,101 (GRCm39) |
E256G |
probably damaging |
Het |
Tox4 |
T |
A |
14: 52,517,299 (GRCm39) |
Y10N |
probably damaging |
Het |
Trpm3 |
A |
G |
19: 22,878,524 (GRCm39) |
M642V |
possibly damaging |
Het |
Ttll10 |
T |
C |
4: 156,120,257 (GRCm39) |
T508A |
probably damaging |
Het |
Tut7 |
T |
A |
13: 59,937,069 (GRCm39) |
K791* |
probably null |
Het |
Ubash3b |
C |
T |
9: 40,942,860 (GRCm39) |
D211N |
probably benign |
Het |
Usp36 |
T |
A |
11: 118,170,650 (GRCm39) |
D28V |
possibly damaging |
Het |
Vmn2r97 |
T |
C |
17: 19,167,873 (GRCm39) |
I709T |
probably damaging |
Het |
Zfp936 |
T |
A |
7: 42,839,158 (GRCm39) |
N207K |
possibly damaging |
Het |
Zfp946 |
T |
G |
17: 22,673,531 (GRCm39) |
I95S |
probably benign |
Het |
Zhx3 |
A |
T |
2: 160,622,371 (GRCm39) |
S599T |
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 |
|
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 |
PCR Primer
(F):5'- TCGGTACCCTCTGGTTCTATGG -3'
(R):5'- GTTCTAGTACCACTGCCCAC -3'
Sequencing Primer
(F):5'- ACCCTCTGGTTCTATGGGGAGG -3'
(R):5'- CGTGGCTCGTGAGGACAGAG -3'
|
Posted On |
2015-04-17 |