Incidental Mutation 'R8790:Rasa3'
| ID |
670871 |
| 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 |
068634-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8790 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
13617218-13727590 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 13727391 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112998
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117551]
[ENSMUST00000154454]
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154454
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (83/83) |
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
G |
A |
10: 78,928,285 (GRCm39) |
P68S |
possibly damaging |
Het |
| Abcb5 |
T |
A |
12: 118,831,620 (GRCm39) |
N1244I |
possibly damaging |
Het |
| Abcb9 |
A |
G |
5: 124,215,304 (GRCm39) |
I479T |
probably damaging |
Het |
| Abi3bp |
A |
T |
16: 56,495,437 (GRCm39) |
I920F |
probably damaging |
Het |
| Adcy6 |
T |
A |
15: 98,496,881 (GRCm39) |
T465S |
probably damaging |
Het |
| Ankrd12 |
A |
T |
17: 66,290,153 (GRCm39) |
I1760N |
possibly damaging |
Het |
| Aoah |
C |
T |
13: 21,035,840 (GRCm39) |
R140C |
probably benign |
Het |
| Bmp7 |
T |
A |
2: 172,712,060 (GRCm39) |
D388V |
probably benign |
Het |
| Bphl |
C |
T |
13: 34,244,468 (GRCm39) |
A195V |
probably benign |
Het |
| Cckar |
A |
G |
5: 53,857,291 (GRCm39) |
V373A |
probably damaging |
Het |
| Cd79b |
T |
G |
11: 106,202,873 (GRCm39) |
D243A |
possibly damaging |
Het |
| Cdc25a |
T |
A |
9: 109,716,416 (GRCm39) |
|
probably null |
Het |
| Cfap57 |
T |
A |
4: 118,439,111 (GRCm39) |
Q805L |
possibly damaging |
Het |
| Ckap2l |
A |
T |
2: 129,111,172 (GRCm39) |
M675K |
possibly damaging |
Het |
| Cluap1 |
T |
A |
16: 3,735,787 (GRCm39) |
|
probably benign |
Het |
| Cyp2b9 |
A |
G |
7: 25,898,167 (GRCm39) |
|
probably benign |
Het |
| D930020B18Rik |
G |
A |
10: 121,503,568 (GRCm39) |
G248S |
possibly damaging |
Het |
| Ddx1 |
A |
T |
12: 13,273,993 (GRCm39) |
I570N |
probably damaging |
Het |
| Dmkn |
G |
A |
7: 30,463,449 (GRCm39) |
S34N |
probably benign |
Het |
| Dnaaf2 |
T |
C |
12: 69,244,068 (GRCm39) |
D331G |
probably damaging |
Het |
| Dnah1 |
A |
T |
14: 31,018,232 (GRCm39) |
Y1429N |
possibly damaging |
Het |
| Dnajc5b |
T |
A |
3: 19,600,981 (GRCm39) |
L26Q |
probably damaging |
Het |
| Epb41l1 |
T |
G |
2: 156,345,722 (GRCm39) |
F242V |
possibly damaging |
Het |
| Esam |
A |
T |
9: 37,442,927 (GRCm39) |
I72F |
probably benign |
Het |
| Fam110a |
C |
T |
2: 151,812,338 (GRCm39) |
R144H |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,841,024 (GRCm39) |
D1740G |
possibly damaging |
Het |
| Fam98a |
A |
G |
17: 75,854,684 (GRCm39) |
F42L |
possibly damaging |
Het |
| Fras1 |
C |
T |
5: 96,903,236 (GRCm39) |
P3038S |
probably damaging |
Het |
| Gm32742 |
C |
A |
9: 51,059,140 (GRCm39) |
G1035C |
probably damaging |
Het |
| Irf5 |
T |
A |
6: 29,535,026 (GRCm39) |
|
probably benign |
Het |
| Jam2 |
T |
A |
16: 84,606,259 (GRCm39) |
I91K |
possibly damaging |
Het |
| Klhdc3 |
A |
G |
17: 46,991,626 (GRCm39) |
|
probably benign |
Het |
| Lgi1 |
C |
T |
19: 38,289,296 (GRCm39) |
S215F |
possibly damaging |
Het |
| Lrp1 |
G |
A |
10: 127,374,946 (GRCm39) |
T4504I |
probably damaging |
Het |
| Mafa |
T |
A |
15: 75,619,224 (GRCm39) |
H183L |
probably benign |
Het |
| Map2 |
T |
C |
1: 66,477,997 (GRCm39) |
V1773A |
probably damaging |
Het |
| Mesp1 |
G |
A |
7: 79,442,825 (GRCm39) |
R151* |
probably null |
Het |
| Mphosph9 |
T |
C |
5: 124,453,736 (GRCm39) |
D192G |
probably damaging |
Het |
| Mthfr |
C |
A |
4: 148,139,991 (GRCm39) |
D678E |
probably benign |
Het |
| Myo15a |
A |
C |
11: 60,367,362 (GRCm39) |
T41P |
possibly damaging |
Het |
| Myo15a |
G |
T |
11: 60,378,047 (GRCm39) |
R185L |
|
Het |
| Myom2 |
T |
G |
8: 15,169,242 (GRCm39) |
L1136W |
probably damaging |
Het |
| Naa30 |
A |
G |
14: 49,418,208 (GRCm39) |
D316G |
probably benign |
Het |
| Ngef |
T |
C |
1: 87,405,319 (GRCm39) |
Q697R |
probably benign |
Het |
| Nin |
T |
C |
12: 70,067,793 (GRCm39) |
R1945G |
|
Het |
| Obox8 |
A |
T |
7: 14,066,908 (GRCm39) |
Y45* |
probably null |
Het |
| Ocln |
C |
T |
13: 100,642,727 (GRCm39) |
V452I |
probably benign |
Het |
| Oog3 |
T |
A |
4: 143,885,710 (GRCm39) |
D296V |
possibly damaging |
Het |
| Or5a1 |
T |
C |
19: 12,097,906 (GRCm39) |
N57D |
probably damaging |
Het |
| Or5h19 |
T |
C |
16: 58,856,580 (GRCm39) |
I173M |
possibly damaging |
Het |
| Or8g4 |
T |
A |
9: 39,662,204 (GRCm39) |
I174K |
probably damaging |
Het |
| Or8k35 |
T |
C |
2: 86,424,278 (GRCm39) |
K298R |
possibly damaging |
Het |
| Papln |
T |
C |
12: 83,823,918 (GRCm39) |
V499A |
probably benign |
Het |
| Paxip1 |
G |
T |
5: 27,977,078 (GRCm39) |
P328Q |
unknown |
Het |
| Pcnx2 |
T |
C |
8: 126,604,306 (GRCm39) |
H650R |
probably benign |
Het |
| Pcnx3 |
A |
T |
19: 5,735,206 (GRCm39) |
V540E |
possibly damaging |
Het |
| Pnpla5 |
C |
T |
15: 84,002,819 (GRCm39) |
G255R |
probably damaging |
Het |
| Ppdpf |
G |
T |
2: 180,829,646 (GRCm39) |
E34* |
probably null |
Het |
| Pum3 |
T |
C |
19: 27,394,199 (GRCm39) |
Y357C |
probably damaging |
Het |
| R3hdm2 |
T |
G |
10: 127,293,521 (GRCm39) |
S142A |
probably damaging |
Het |
| Rcor2 |
T |
A |
19: 7,246,340 (GRCm39) |
M5K |
possibly damaging |
Het |
| Rere |
A |
G |
4: 150,593,332 (GRCm39) |
T309A |
unknown |
Het |
| Ryr1 |
A |
T |
7: 28,776,297 (GRCm39) |
I2250N |
probably damaging |
Het |
| Sema6c |
T |
C |
3: 95,075,341 (GRCm39) |
V130A |
probably benign |
Het |
| Slc26a9 |
T |
A |
1: 131,683,155 (GRCm39) |
S200T |
probably damaging |
Het |
| Slc38a10 |
A |
G |
11: 120,023,519 (GRCm39) |
L299P |
possibly damaging |
Het |
| Smim10l1 |
G |
T |
6: 133,084,848 (GRCm39) |
V72L |
unknown |
Het |
| Sptbn2 |
C |
A |
19: 4,782,052 (GRCm39) |
F430L |
probably damaging |
Het |
| Svep1 |
T |
A |
4: 58,118,145 (GRCm39) |
Y859F |
possibly damaging |
Het |
| Svil |
C |
A |
18: 5,056,098 (GRCm39) |
Q324K |
possibly damaging |
Het |
| Tgfb1i1 |
A |
T |
7: 127,852,049 (GRCm39) |
D377V |
probably damaging |
Het |
| Tmed10 |
C |
A |
12: 85,390,254 (GRCm39) |
W203L |
probably damaging |
Het |
| Tmem51 |
T |
A |
4: 141,765,056 (GRCm39) |
M1L |
possibly damaging |
Het |
| Tmprss11e |
A |
G |
5: 86,855,259 (GRCm39) |
V382A |
probably benign |
Het |
| Tnfrsf13b |
G |
T |
11: 61,038,350 (GRCm39) |
R211L |
possibly damaging |
Het |
| Tns3 |
A |
G |
11: 8,468,273 (GRCm39) |
V317A |
probably damaging |
Het |
| Top3a |
G |
A |
11: 60,631,363 (GRCm39) |
P1000S |
possibly damaging |
Het |
| Traj32 |
A |
T |
14: 54,423,587 (GRCm39) |
I10F |
|
Het |
| Trav8-1 |
T |
A |
14: 53,707,677 (GRCm39) |
C106S |
probably damaging |
Het |
| Trbv2 |
A |
G |
6: 41,024,655 (GRCm39) |
I24V |
probably benign |
Het |
| Ubap2 |
A |
G |
4: 41,209,351 (GRCm39) |
|
probably null |
Het |
| Vmn2r97 |
T |
A |
17: 19,160,472 (GRCm39) |
C536S |
probably damaging |
Het |
| Zfp879 |
G |
T |
11: 50,723,429 (GRCm39) |
C542* |
probably null |
Het |
| Znfx1 |
C |
T |
2: 166,892,500 (GRCm39) |
|
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 |
|
|
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'- TGCATGTAAAGTCAGGCGCC -3'
(R):5'- CAATGAAGATCGGGGCTCTG -3'
Sequencing Primer
(F):5'- TAAAGTCAGGCGCCTGGGATC -3'
(R):5'- CGAGCTCTGCCAATGGAAG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation