Incidental Mutation 'IGL03085:Rasa3'
| ID |
418037 |
| 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 # |
IGL03085
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
13617218-13727590 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 13635690 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 422
(N422I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112998
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117551]
|
| AlphaFold |
Q60790 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117551
AA Change: N422I
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000112998
Gene: ENSMUSG00000031453
AA Change: N422I
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
A |
T |
14: 64,208,881 (GRCm39) |
H230Q |
probably benign |
Het |
| Aagab |
T |
A |
9: 63,546,316 (GRCm39) |
|
probably benign |
Het |
| Actl11 |
G |
T |
9: 107,806,749 (GRCm39) |
K357N |
probably damaging |
Het |
| Aktip |
A |
G |
8: 91,852,651 (GRCm39) |
|
probably null |
Het |
| Amtn |
A |
G |
5: 88,529,501 (GRCm39) |
|
probably benign |
Het |
| Arhgap21 |
T |
A |
2: 20,919,532 (GRCm39) |
M58L |
probably benign |
Het |
| Art2b |
T |
A |
7: 101,229,785 (GRCm39) |
Y38F |
probably damaging |
Het |
| Asb10 |
T |
C |
5: 24,744,601 (GRCm39) |
|
probably benign |
Het |
| Atm |
A |
T |
9: 53,395,471 (GRCm39) |
D1699E |
possibly damaging |
Het |
| Azi2 |
A |
C |
9: 117,888,214 (GRCm39) |
K259T |
probably damaging |
Het |
| Bcas3 |
A |
G |
11: 85,367,609 (GRCm39) |
D77G |
probably damaging |
Het |
| Birc6 |
G |
A |
17: 74,903,945 (GRCm39) |
R1246H |
probably damaging |
Het |
| Cdh13 |
C |
A |
8: 120,015,463 (GRCm39) |
D559E |
probably damaging |
Het |
| Chrm3 |
C |
T |
13: 9,927,570 (GRCm39) |
A489T |
probably damaging |
Het |
| Ckap2l |
A |
T |
2: 129,126,967 (GRCm39) |
Y404N |
probably benign |
Het |
| Col18a1 |
A |
G |
10: 76,895,015 (GRCm39) |
|
probably benign |
Het |
| Col4a1 |
T |
A |
8: 11,272,198 (GRCm39) |
K731* |
probably null |
Het |
| Corin |
A |
T |
5: 72,511,273 (GRCm39) |
C360S |
probably damaging |
Het |
| Cyp1a1 |
A |
C |
9: 57,608,995 (GRCm39) |
H292P |
possibly damaging |
Het |
| Dennd5b |
A |
G |
6: 148,928,893 (GRCm39) |
V760A |
probably damaging |
Het |
| Dhx57 |
T |
C |
17: 80,565,526 (GRCm39) |
D842G |
possibly damaging |
Het |
| Emp2 |
C |
A |
16: 10,105,910 (GRCm39) |
|
probably benign |
Het |
| Eral1 |
G |
A |
11: 77,969,093 (GRCm39) |
R136C |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,174,072 (GRCm39) |
M2214L |
probably benign |
Het |
| Flnb |
G |
A |
14: 7,882,211 (GRCm38) |
R304H |
probably benign |
Het |
| G6pd2 |
A |
T |
5: 61,967,645 (GRCm39) |
E473D |
probably benign |
Het |
| Gpx8 |
A |
G |
13: 113,179,795 (GRCm39) |
Y169H |
probably damaging |
Het |
| Ighv1-64 |
A |
G |
12: 115,471,461 (GRCm39) |
S19P |
possibly damaging |
Het |
| Ikbkb |
G |
T |
8: 23,172,802 (GRCm39) |
N139K |
probably benign |
Het |
| Inpp5b |
A |
T |
4: 124,686,115 (GRCm39) |
T720S |
probably benign |
Het |
| Kmt2d |
C |
A |
15: 98,737,821 (GRCm39) |
|
probably benign |
Het |
| Lrig2 |
G |
A |
3: 104,374,575 (GRCm39) |
P169S |
probably damaging |
Het |
| Magi3 |
T |
A |
3: 103,922,655 (GRCm39) |
K1354I |
possibly damaging |
Het |
| Mapk9 |
A |
T |
11: 49,757,865 (GRCm39) |
D103V |
probably damaging |
Het |
| Mrpl46 |
A |
T |
7: 78,431,333 (GRCm39) |
I75N |
probably damaging |
Het |
| Or3a1c |
T |
A |
11: 74,046,511 (GRCm39) |
I177N |
probably damaging |
Het |
| Or8b41 |
A |
G |
9: 38,054,479 (GRCm39) |
E16G |
probably damaging |
Het |
| Or8d2b |
G |
A |
9: 38,788,959 (GRCm39) |
M162I |
probably benign |
Het |
| Otog |
G |
T |
7: 45,955,346 (GRCm39) |
|
probably null |
Het |
| Pex11a |
A |
G |
7: 79,387,523 (GRCm39) |
L103P |
probably damaging |
Het |
| Pnpla8 |
A |
G |
12: 44,358,305 (GRCm39) |
T687A |
probably benign |
Het |
| Ppm1d |
A |
G |
11: 85,227,989 (GRCm39) |
I302V |
probably null |
Het |
| Prdm11 |
C |
A |
2: 92,805,304 (GRCm39) |
V549F |
possibly damaging |
Het |
| Prss54 |
G |
A |
8: 96,292,258 (GRCm39) |
P107L |
probably benign |
Het |
| Rbm27 |
T |
C |
18: 42,460,589 (GRCm39) |
|
probably benign |
Het |
| Rpl13-ps3 |
A |
T |
14: 59,131,156 (GRCm39) |
|
noncoding transcript |
Het |
| Rps6ka2 |
G |
A |
17: 7,562,679 (GRCm39) |
|
probably null |
Het |
| Sphkap |
T |
A |
1: 83,258,075 (GRCm39) |
I223F |
possibly damaging |
Het |
| Srm |
T |
C |
4: 148,677,838 (GRCm39) |
F159L |
probably damaging |
Het |
| Stt3a |
A |
G |
9: 36,644,266 (GRCm39) |
|
probably benign |
Het |
| Tacr3 |
T |
C |
3: 134,638,027 (GRCm39) |
S395P |
possibly damaging |
Het |
| Tecpr2 |
A |
G |
12: 110,921,260 (GRCm39) |
|
probably benign |
Het |
| Tmub1 |
C |
T |
5: 24,651,096 (GRCm39) |
G188S |
probably damaging |
Het |
| Trim66 |
T |
A |
7: 109,057,952 (GRCm39) |
I877F |
probably benign |
Het |
| Ubr5 |
T |
C |
15: 38,029,812 (GRCm39) |
E471G |
probably damaging |
Het |
| Vmn1r218 |
A |
T |
13: 23,321,481 (GRCm39) |
Y196F |
possibly damaging |
Het |
| Vmn2r89 |
T |
A |
14: 51,689,615 (GRCm39) |
D39E |
probably damaging |
Het |
| Wee1 |
C |
A |
7: 109,723,805 (GRCm39) |
P240Q |
probably damaging |
Het |
| Zc3h12a |
A |
T |
4: 125,020,813 (GRCm39) |
V10D |
probably benign |
Het |
| Zzef1 |
T |
C |
11: 72,746,350 (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 |
|
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 |
2016-08-02 |
Incidental Mutation