Incidental Mutation 'R2090:Rasa3'
| ID |
231708 |
| 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 |
040095-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2090 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
13617218-13727590 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to C
at 13632381 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: ENSMUST00000127418
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137822
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (67/67) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
A |
G |
8: 25,391,456 (GRCm39) |
|
probably null |
Het |
| Adcy7 |
A |
T |
8: 89,042,485 (GRCm39) |
T451S |
probably damaging |
Het |
| Adgrg3 |
A |
T |
8: 95,766,558 (GRCm39) |
T410S |
possibly damaging |
Het |
| Alg11 |
G |
T |
8: 22,555,646 (GRCm39) |
L302F |
possibly damaging |
Het |
| Ankrd17 |
A |
G |
5: 90,445,905 (GRCm39) |
V310A |
possibly damaging |
Het |
| Atg16l2 |
C |
T |
7: 100,942,575 (GRCm39) |
|
probably null |
Het |
| B3gnt2 |
A |
G |
11: 22,786,291 (GRCm39) |
V299A |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,969,791 (GRCm39) |
N4258S |
probably benign |
Het |
| C2cd4d |
A |
G |
3: 94,271,321 (GRCm39) |
K196E |
probably benign |
Het |
| Calhm6 |
A |
G |
10: 34,002,358 (GRCm39) |
S242P |
probably damaging |
Het |
| Cdr2l |
A |
G |
11: 115,281,827 (GRCm39) |
K111E |
probably damaging |
Het |
| Crtam |
T |
C |
9: 40,895,612 (GRCm39) |
Q41R |
possibly damaging |
Het |
| Cspp1 |
A |
G |
1: 10,160,493 (GRCm39) |
K560R |
possibly damaging |
Het |
| Dcaf15 |
A |
T |
8: 84,824,400 (GRCm39) |
Y571* |
probably null |
Het |
| Defa39 |
A |
T |
8: 22,192,805 (GRCm39) |
W64R |
possibly damaging |
Het |
| Dpy19l4 |
T |
C |
4: 11,304,344 (GRCm39) |
Y99C |
probably benign |
Het |
| Edem3 |
C |
T |
1: 151,680,577 (GRCm39) |
|
probably benign |
Het |
| Enpp6 |
A |
T |
8: 47,518,405 (GRCm39) |
|
probably null |
Het |
| Foxf2 |
T |
A |
13: 31,810,824 (GRCm39) |
D254E |
probably benign |
Het |
| Gjb5 |
T |
C |
4: 127,249,794 (GRCm39) |
N117D |
probably benign |
Het |
| Glmn |
G |
A |
5: 107,709,794 (GRCm39) |
L337F |
probably damaging |
Het |
| Gsdmc2 |
T |
A |
15: 63,698,675 (GRCm39) |
Y307F |
probably benign |
Het |
| Gsdmc3 |
T |
A |
15: 63,738,631 (GRCm39) |
M144L |
probably benign |
Het |
| Ibtk |
A |
G |
9: 85,603,046 (GRCm39) |
I653T |
probably benign |
Het |
| Il24 |
T |
G |
1: 130,812,574 (GRCm39) |
D99A |
possibly damaging |
Het |
| Intu |
A |
G |
3: 40,637,966 (GRCm39) |
Q484R |
probably benign |
Het |
| Iqca1l |
A |
G |
5: 24,755,674 (GRCm39) |
S283P |
probably benign |
Het |
| Lsp1 |
T |
C |
7: 142,045,544 (GRCm39) |
|
probably benign |
Het |
| Mad1l1 |
A |
G |
5: 139,995,011 (GRCm39) |
S672P |
probably benign |
Het |
| Man2a2 |
A |
T |
7: 80,013,858 (GRCm39) |
|
probably benign |
Het |
| Morc3 |
C |
A |
16: 93,663,341 (GRCm39) |
H515N |
probably benign |
Het |
| Nav1 |
T |
C |
1: 135,534,903 (GRCm39) |
|
probably benign |
Het |
| Ndor1 |
A |
G |
2: 25,139,230 (GRCm39) |
L247P |
probably damaging |
Het |
| Nfkbiz |
A |
T |
16: 55,636,818 (GRCm39) |
F494L |
probably benign |
Het |
| Nr1d1 |
G |
A |
11: 98,661,436 (GRCm39) |
P277S |
probably damaging |
Het |
| Nrg2 |
T |
C |
18: 36,151,496 (GRCm39) |
D682G |
probably benign |
Het |
| Nrros |
C |
T |
16: 31,962,975 (GRCm39) |
W311* |
probably null |
Het |
| Oasl1 |
G |
A |
5: 115,073,993 (GRCm39) |
D301N |
probably damaging |
Het |
| Or10ag56 |
A |
T |
2: 87,139,762 (GRCm39) |
I230F |
probably benign |
Het |
| Or14a258 |
A |
T |
7: 86,035,289 (GRCm39) |
I193N |
probably benign |
Het |
| Or5h26 |
A |
G |
16: 58,988,503 (GRCm39) |
M1T |
probably null |
Het |
| Palmd |
A |
G |
3: 116,721,083 (GRCm39) |
S123P |
probably damaging |
Het |
| Patj |
A |
G |
4: 98,325,560 (GRCm39) |
|
probably benign |
Het |
| Pcsk4 |
T |
C |
10: 80,161,655 (GRCm39) |
D162G |
probably benign |
Het |
| Plppr5 |
A |
G |
3: 117,369,520 (GRCm39) |
D59G |
possibly damaging |
Het |
| Pmvk |
A |
C |
3: 89,369,189 (GRCm39) |
R11S |
possibly damaging |
Het |
| Pnliprp1 |
A |
G |
19: 58,728,901 (GRCm39) |
T363A |
probably benign |
Het |
| Poll |
A |
T |
19: 45,547,277 (GRCm39) |
I65N |
probably benign |
Het |
| Prox1 |
T |
A |
1: 189,893,009 (GRCm39) |
S479C |
probably damaging |
Het |
| Prss50 |
A |
T |
9: 110,691,361 (GRCm39) |
S222C |
probably damaging |
Het |
| Sec14l3 |
T |
C |
11: 4,025,481 (GRCm39) |
V335A |
probably benign |
Het |
| Setbp1 |
C |
T |
18: 78,899,935 (GRCm39) |
S1244N |
probably benign |
Het |
| Sgcg |
A |
T |
14: 61,483,213 (GRCm39) |
F63I |
probably damaging |
Het |
| Skp2 |
C |
A |
15: 9,113,786 (GRCm39) |
G376C |
probably damaging |
Het |
| Slc2a13 |
T |
A |
15: 91,400,695 (GRCm39) |
I176F |
probably benign |
Het |
| Smc6 |
A |
G |
12: 11,339,987 (GRCm39) |
T432A |
probably benign |
Het |
| Snx25 |
G |
A |
8: 46,509,150 (GRCm39) |
P478L |
probably damaging |
Het |
| Taf2 |
A |
T |
15: 54,879,882 (GRCm39) |
H1151Q |
probably damaging |
Het |
| Thsd1 |
A |
G |
8: 22,749,673 (GRCm39) |
K795R |
possibly damaging |
Het |
| Tmem108 |
G |
A |
9: 103,361,976 (GRCm39) |
L537F |
possibly damaging |
Het |
| Ubr3 |
T |
C |
2: 69,766,361 (GRCm39) |
Y410H |
probably damaging |
Het |
| Vav3 |
T |
C |
3: 109,555,055 (GRCm39) |
|
probably null |
Het |
| Vmn1r224 |
T |
C |
17: 20,639,524 (GRCm39) |
Y34H |
probably benign |
Het |
| Zeb1 |
T |
C |
18: 5,766,458 (GRCm39) |
V323A |
possibly damaging |
Het |
| Zfp652 |
A |
G |
11: 95,644,834 (GRCm39) |
D240G |
probably benign |
Het |
| Zfp963 |
A |
T |
8: 70,195,996 (GRCm39) |
C152* |
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 |
|
|
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 |
|
|
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 |
PCR Primer
(F):5'- GAACATACCCTCCCCTGTATG -3'
(R):5'- GGCAGAGATTCTCAGCTAGC -3'
Sequencing Primer
(F):5'- TCCCCTGTATGCAAAACATTTC -3'
(R):5'- CAATACTAGGAACCTGGGGTCTTG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation