Incidental Mutation 'IGL02112:Rasa3'
| ID |
280225 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02112
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
13617218-13727590 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 13635042 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 benign
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137822
|
| Coding Region Coverage |
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
T |
A |
8: 44,104,175 (GRCm39) |
Y490F |
possibly damaging |
Het |
| Appbp2 |
A |
T |
11: 85,092,446 (GRCm39) |
H271Q |
probably benign |
Het |
| Arhgap17 |
A |
T |
7: 122,917,640 (GRCm39) |
D181E |
possibly damaging |
Het |
| Arhgap25 |
T |
A |
6: 87,444,919 (GRCm39) |
Y286F |
possibly damaging |
Het |
| Atf2 |
T |
C |
2: 73,649,381 (GRCm39) |
K352R |
probably damaging |
Het |
| Bdp1 |
G |
A |
13: 100,174,308 (GRCm39) |
T2076I |
probably benign |
Het |
| C1s2 |
A |
G |
6: 124,602,267 (GRCm39) |
V642A |
probably benign |
Het |
| Cldn18 |
T |
A |
9: 99,580,128 (GRCm39) |
T170S |
probably benign |
Het |
| Cntnap5c |
T |
A |
17: 58,620,853 (GRCm39) |
H977Q |
probably benign |
Het |
| Col15a1 |
T |
A |
4: 47,253,985 (GRCm39) |
|
probably benign |
Het |
| Csmd1 |
A |
T |
8: 16,131,719 (GRCm39) |
Y1669N |
probably benign |
Het |
| Csmd3 |
A |
C |
15: 48,177,265 (GRCm39) |
S424R |
possibly damaging |
Het |
| Cyp4a31 |
A |
G |
4: 115,428,180 (GRCm39) |
D306G |
probably damaging |
Het |
| E2f2 |
A |
G |
4: 135,920,145 (GRCm39) |
T377A |
probably benign |
Het |
| Edil3 |
A |
G |
13: 89,328,374 (GRCm39) |
D276G |
probably damaging |
Het |
| Ei24 |
A |
T |
9: 36,693,638 (GRCm39) |
Y305N |
probably damaging |
Het |
| Erbin |
T |
C |
13: 103,998,844 (GRCm39) |
N181D |
probably benign |
Het |
| Gli3 |
A |
G |
13: 15,837,099 (GRCm39) |
Q494R |
probably damaging |
Het |
| Gm16519 |
T |
C |
17: 71,236,291 (GRCm39) |
I80T |
probably damaging |
Het |
| Haus8 |
T |
A |
8: 71,708,205 (GRCm39) |
E163V |
probably damaging |
Het |
| Hephl1 |
G |
T |
9: 14,993,111 (GRCm39) |
|
probably benign |
Het |
| Hnrnph3 |
A |
G |
10: 62,852,184 (GRCm39) |
|
probably null |
Het |
| Liat1 |
G |
T |
11: 75,894,214 (GRCm39) |
C197F |
probably benign |
Het |
| Mast2 |
A |
T |
4: 116,176,961 (GRCm39) |
C437S |
probably damaging |
Het |
| Mef2a |
A |
C |
7: 66,914,620 (GRCm39) |
S91R |
probably damaging |
Het |
| Mfge8 |
A |
T |
7: 78,793,088 (GRCm39) |
V126D |
probably benign |
Het |
| Nrdc |
A |
G |
4: 108,884,629 (GRCm39) |
|
probably benign |
Het |
| Or7d10 |
T |
A |
9: 19,831,821 (GRCm39) |
N105K |
possibly damaging |
Het |
| Panx2 |
A |
G |
15: 88,953,772 (GRCm39) |
T576A |
probably benign |
Het |
| Per3 |
T |
C |
4: 151,113,640 (GRCm39) |
Y306C |
probably benign |
Het |
| Ppm1h |
G |
A |
10: 122,638,305 (GRCm39) |
G192R |
possibly damaging |
Het |
| Prss22 |
T |
C |
17: 24,212,945 (GRCm39) |
E264G |
probably damaging |
Het |
| Rpl7a-ps8 |
C |
A |
7: 19,687,985 (GRCm39) |
|
probably benign |
Het |
| Rundc1 |
A |
G |
11: 101,324,425 (GRCm39) |
D377G |
probably benign |
Het |
| Sh3bp1 |
T |
C |
15: 78,790,084 (GRCm39) |
|
probably null |
Het |
| Sobp |
A |
G |
10: 42,897,873 (GRCm39) |
S571P |
probably benign |
Het |
| Styxl2 |
C |
A |
1: 165,927,240 (GRCm39) |
E791* |
probably null |
Het |
| Syce1 |
C |
A |
7: 140,359,545 (GRCm39) |
M114I |
probably benign |
Het |
| Tdrd6 |
G |
A |
17: 43,940,242 (GRCm39) |
R269W |
probably damaging |
Het |
| Tmprss13 |
T |
C |
9: 45,250,702 (GRCm39) |
S408P |
probably damaging |
Het |
| Tonsl |
T |
C |
15: 76,517,602 (GRCm39) |
T706A |
probably benign |
Het |
| Tpcn2 |
A |
G |
7: 144,810,529 (GRCm39) |
S603P |
probably benign |
Het |
| Trmt12 |
A |
T |
15: 58,744,665 (GRCm39) |
Q21L |
probably damaging |
Het |
| Vmn1r68 |
C |
T |
7: 10,261,787 (GRCm39) |
G104S |
probably damaging |
Het |
| Vmn2r82 |
T |
C |
10: 79,231,833 (GRCm39) |
W611R |
probably benign |
Het |
| Vmn2r90 |
C |
A |
17: 17,932,465 (GRCm39) |
T124K |
probably damaging |
Het |
| Vmn2r99 |
A |
G |
17: 19,600,494 (GRCm39) |
E506G |
probably null |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation