Incidental Mutation 'R9602:Rasa3'
| ID |
723729 |
| 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 # |
R9602 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
13617218-13727590 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13681844 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 35
(D35G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112998
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117551]
[ENSMUST00000154454]
|
| AlphaFold |
Q60790 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117551
AA Change: D35G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000112998
Gene: ENSMUSG00000031453
AA Change: D35G
| 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 |
probably benign
Transcript: ENSMUST00000154454
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
G |
A |
9: 55,910,261 (GRCm39) |
S125L |
possibly damaging |
Het |
| Abca3 |
T |
C |
17: 24,617,378 (GRCm39) |
V1025A |
probably benign |
Het |
| Adam5 |
T |
C |
8: 25,303,402 (GRCm39) |
K175R |
probably damaging |
Het |
| Arhgap39 |
A |
C |
15: 76,610,954 (GRCm39) |
S885R |
probably damaging |
Het |
| Arhgef12 |
A |
G |
9: 42,895,676 (GRCm39) |
Y951H |
probably damaging |
Het |
| Bbs1 |
G |
A |
19: 4,941,083 (GRCm39) |
L544F |
probably damaging |
Het |
| Bcar1 |
C |
T |
8: 112,440,498 (GRCm39) |
E499K |
probably benign |
Het |
| Brinp3 |
C |
T |
1: 146,622,234 (GRCm39) |
T212I |
probably damaging |
Het |
| Cdh20 |
A |
T |
1: 104,868,823 (GRCm39) |
I105F |
probably benign |
Het |
| Cenpp |
T |
C |
13: 49,801,049 (GRCm39) |
E123G |
probably damaging |
Het |
| Col14a1 |
C |
A |
15: 55,351,345 (GRCm39) |
D1557E |
unknown |
Het |
| Col6a3 |
A |
T |
1: 90,731,497 (GRCm39) |
N1585K |
probably benign |
Het |
| Cox6a1 |
G |
A |
5: 115,486,934 (GRCm39) |
P26S |
unknown |
Het |
| Epb41l1 |
G |
T |
2: 156,367,068 (GRCm39) |
D646Y |
probably damaging |
Het |
| Fbxw10 |
G |
T |
11: 62,750,782 (GRCm39) |
R455L |
possibly damaging |
Het |
| Fmnl2 |
T |
C |
2: 53,013,587 (GRCm39) |
|
probably null |
Het |
| Gata3 |
T |
A |
2: 9,863,297 (GRCm39) |
I406F |
possibly damaging |
Het |
| Gm14406 |
C |
T |
2: 177,261,028 (GRCm39) |
G417D |
probably damaging |
Het |
| Gpr31b |
C |
T |
17: 13,270,771 (GRCm39) |
G133S |
possibly damaging |
Het |
| Gtf2h1 |
T |
A |
7: 46,456,219 (GRCm39) |
D196E |
possibly damaging |
Het |
| Hcn2 |
A |
G |
10: 79,562,128 (GRCm39) |
I375V |
probably benign |
Het |
| Kctd20 |
T |
C |
17: 29,180,442 (GRCm39) |
M72T |
probably benign |
Het |
| Klhl2 |
A |
T |
8: 65,205,696 (GRCm39) |
F408L |
probably damaging |
Het |
| Mllt10 |
T |
C |
2: 18,211,850 (GRCm39) |
V921A |
probably damaging |
Het |
| Mn1 |
A |
T |
5: 111,565,449 (GRCm39) |
|
probably benign |
Het |
| Mov10 |
A |
T |
3: 104,708,284 (GRCm39) |
D488E |
probably benign |
Het |
| Muc5b |
G |
T |
7: 141,417,211 (GRCm39) |
D3386Y |
probably benign |
Het |
| Myo15b |
G |
A |
11: 115,769,269 (GRCm39) |
|
probably null |
Het |
| Nudt7 |
T |
C |
8: 114,878,499 (GRCm39) |
F176L |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,981,385 (GRCm39) |
Y1878H |
probably damaging |
Het |
| Or6c5b |
A |
T |
10: 129,245,802 (GRCm39) |
D189V |
probably damaging |
Het |
| Pabpn1l |
T |
A |
8: 123,347,101 (GRCm39) |
T250S |
probably benign |
Het |
| Prr11 |
C |
T |
11: 86,987,998 (GRCm39) |
D302N |
possibly damaging |
Het |
| Prx |
T |
A |
7: 27,218,445 (GRCm39) |
V1121D |
possibly damaging |
Het |
| Ptcd1 |
A |
G |
5: 145,096,448 (GRCm39) |
V215A |
probably benign |
Het |
| Rbm5 |
A |
G |
9: 107,629,152 (GRCm39) |
S348P |
probably benign |
Het |
| Rmdn2 |
G |
A |
17: 79,975,440 (GRCm39) |
G310R |
probably damaging |
Het |
| Rnf114 |
T |
A |
2: 167,353,162 (GRCm39) |
C144* |
probably null |
Het |
| Rreb1 |
T |
C |
13: 38,114,477 (GRCm39) |
I612T |
probably damaging |
Het |
| Sdk1 |
A |
T |
5: 142,071,353 (GRCm39) |
D1181V |
probably damaging |
Het |
| Secisbp2l |
A |
T |
2: 125,609,356 (GRCm39) |
M324K |
probably benign |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Slc22a6 |
G |
T |
19: 8,598,560 (GRCm39) |
E206* |
probably null |
Het |
| Smg5 |
T |
C |
3: 88,250,214 (GRCm39) |
C109R |
probably damaging |
Het |
| Socs7 |
A |
G |
11: 97,267,837 (GRCm39) |
T323A |
probably benign |
Het |
| Spen |
T |
C |
4: 141,205,183 (GRCm39) |
N1148S |
unknown |
Het |
| Tek |
C |
G |
4: 94,715,968 (GRCm39) |
I463M |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Ugt2b34 |
T |
C |
5: 87,054,163 (GRCm39) |
D206G |
probably damaging |
Het |
| Upk3a |
C |
T |
15: 84,905,464 (GRCm39) |
P191L |
probably benign |
Het |
| Vmn2r101 |
T |
A |
17: 19,831,780 (GRCm39) |
L592* |
probably null |
Het |
| Vmn2r82 |
A |
G |
10: 79,214,880 (GRCm39) |
I288V |
probably benign |
Het |
| Vmn2r88 |
T |
A |
14: 51,651,189 (GRCm39) |
S168T |
|
Het |
| Wnt5a |
C |
A |
14: 28,240,295 (GRCm39) |
N148K |
probably benign |
Het |
| Yipf5 |
T |
C |
18: 40,345,134 (GRCm39) |
Y82C |
probably damaging |
Het |
| Zfp655 |
T |
A |
5: 145,181,473 (GRCm39) |
C444S |
probably benign |
Het |
| Zpr1 |
A |
G |
9: 46,184,663 (GRCm39) |
N57D |
probably benign |
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 |
|
R9483:Rasa3
|
UTSW |
8 |
13,630,033 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAAACCTCACATGGGCAGC -3'
(R):5'- AGGTCTGCTTGTGAAGTGAC -3'
Sequencing Primer
(F):5'- GCAGCCTGGCACTCAGAATC -3'
(R):5'- GGTAGCTTGACGATATATGTGACTAC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation