Incidental Mutation 'R5008:Rasa3'
| ID |
390287 |
| 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 |
042599-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5008 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
13617218-13727590 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 13634959 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 453
(C453*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112998
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117551]
|
| AlphaFold |
Q60790 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000117551
AA Change: C453*
|
| SMART Domains |
Protein: ENSMUSP00000112998
Gene: ENSMUSG00000031453
AA Change: C453*
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
97% (73/75) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
C |
G |
7: 27,278,192 (GRCm39) |
T242R |
probably damaging |
Het |
| 2310057N15Rik |
A |
G |
16: 88,570,663 (GRCm39) |
Y126H |
probably damaging |
Het |
| Catsperg1 |
A |
T |
7: 28,894,859 (GRCm39) |
Y579* |
probably null |
Het |
| Chchd5 |
A |
T |
2: 128,972,319 (GRCm39) |
|
probably null |
Het |
| Chd1l |
T |
C |
3: 97,491,224 (GRCm39) |
N423D |
probably damaging |
Het |
| Cntnap1 |
G |
A |
11: 101,079,567 (GRCm39) |
W1268* |
probably null |
Het |
| Col2a1 |
G |
A |
15: 97,877,550 (GRCm39) |
A1011V |
probably benign |
Het |
| Cst11 |
A |
G |
2: 148,612,325 (GRCm39) |
I104T |
probably benign |
Het |
| Dctd |
C |
T |
8: 48,590,449 (GRCm39) |
|
probably benign |
Het |
| Dnaaf4 |
T |
C |
9: 72,879,600 (GRCm39) |
|
probably benign |
Het |
| Dnah17 |
A |
G |
11: 118,001,403 (GRCm39) |
F847L |
probably benign |
Het |
| Dspp |
A |
T |
5: 104,323,439 (GRCm39) |
H194L |
possibly damaging |
Het |
| Dync2i2 |
C |
A |
2: 29,922,781 (GRCm39) |
R322L |
probably benign |
Het |
| Frmd5 |
C |
A |
2: 121,379,341 (GRCm39) |
R414L |
probably damaging |
Het |
| Galnt3 |
C |
A |
2: 65,915,585 (GRCm39) |
R592L |
probably benign |
Het |
| Gm38706 |
T |
A |
6: 130,461,580 (GRCm39) |
|
noncoding transcript |
Het |
| Gm38706 |
T |
A |
6: 130,461,983 (GRCm39) |
|
noncoding transcript |
Het |
| Hivep3 |
A |
G |
4: 119,956,114 (GRCm39) |
K1477E |
probably benign |
Het |
| Igsf3 |
C |
T |
3: 101,358,233 (GRCm39) |
T708M |
probably damaging |
Het |
| Ikzf4 |
T |
G |
10: 128,477,119 (GRCm39) |
E64A |
probably benign |
Het |
| Klhl28 |
C |
T |
12: 65,004,001 (GRCm39) |
E171K |
probably damaging |
Het |
| Krt87 |
T |
A |
15: 101,389,105 (GRCm39) |
I76F |
probably damaging |
Het |
| Lat2 |
A |
G |
5: 134,631,991 (GRCm39) |
V152A |
probably benign |
Het |
| Lrp12 |
C |
T |
15: 39,741,852 (GRCm39) |
D288N |
probably damaging |
Het |
| Mdp1 |
C |
T |
14: 55,896,683 (GRCm39) |
R126Q |
probably damaging |
Het |
| Msh2 |
C |
A |
17: 88,030,841 (GRCm39) |
A906E |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,223,981 (GRCm39) |
|
probably benign |
Het |
| Myh4 |
T |
A |
11: 67,144,358 (GRCm39) |
S1243T |
probably benign |
Het |
| Myo3b |
T |
A |
2: 70,088,412 (GRCm39) |
F892I |
probably damaging |
Het |
| Nckap5l |
T |
C |
15: 99,323,731 (GRCm39) |
N924S |
possibly damaging |
Het |
| Npnt |
C |
T |
3: 132,612,218 (GRCm39) |
C218Y |
probably damaging |
Het |
| Or2a20 |
T |
A |
6: 43,193,991 (GRCm39) |
I48N |
probably damaging |
Het |
| Or2d2b |
A |
T |
7: 106,705,288 (GRCm39) |
M260K |
probably damaging |
Het |
| Or7a42 |
T |
A |
10: 78,791,905 (GRCm39) |
F289I |
probably damaging |
Het |
| Pfkm |
G |
A |
15: 98,020,570 (GRCm39) |
C233Y |
probably benign |
Het |
| Pigq |
A |
G |
17: 26,153,177 (GRCm39) |
V338A |
probably benign |
Het |
| Pld4 |
A |
T |
12: 112,734,484 (GRCm39) |
N415I |
possibly damaging |
Het |
| Pmm1 |
A |
T |
15: 81,842,095 (GRCm39) |
|
probably null |
Het |
| Polg |
G |
T |
7: 79,109,822 (GRCm39) |
P394T |
probably damaging |
Het |
| Polq |
A |
T |
16: 36,882,749 (GRCm39) |
I1359L |
probably benign |
Het |
| Pramel30 |
A |
G |
4: 144,057,836 (GRCm39) |
S148G |
probably benign |
Het |
| Pros1 |
A |
G |
16: 62,748,548 (GRCm39) |
N674D |
possibly damaging |
Het |
| Psme4 |
T |
A |
11: 30,806,896 (GRCm39) |
|
probably benign |
Het |
| Repin1 |
T |
C |
6: 48,573,542 (GRCm39) |
V101A |
probably damaging |
Het |
| Rnf186 |
A |
T |
4: 138,694,540 (GRCm39) |
M27L |
probably benign |
Het |
| Rpa1 |
A |
G |
11: 75,204,125 (GRCm39) |
|
probably null |
Het |
| Rph3a |
G |
T |
5: 121,083,454 (GRCm39) |
N605K |
probably damaging |
Het |
| Rps18 |
A |
T |
17: 34,171,258 (GRCm39) |
|
probably null |
Het |
| Scgn |
A |
G |
13: 24,174,958 (GRCm39) |
I20T |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 112,848,452 (GRCm39) |
V652E |
possibly damaging |
Het |
| Slc23a2 |
T |
C |
2: 131,943,414 (GRCm39) |
H29R |
probably damaging |
Het |
| Slc34a3 |
C |
T |
2: 25,120,854 (GRCm39) |
V383I |
possibly damaging |
Het |
| Slc5a1 |
A |
G |
5: 33,309,917 (GRCm39) |
M382V |
possibly damaging |
Het |
| Slc5a3 |
T |
A |
16: 91,874,169 (GRCm39) |
S75R |
probably damaging |
Het |
| Stat5b |
G |
C |
11: 100,693,309 (GRCm39) |
H111D |
probably benign |
Het |
| Tanc2 |
G |
A |
11: 105,515,886 (GRCm39) |
M1I |
probably null |
Het |
| Tbcel |
C |
T |
9: 42,327,419 (GRCm39) |
G328E |
probably damaging |
Het |
| Tecta |
C |
A |
9: 42,284,358 (GRCm39) |
R909L |
possibly damaging |
Het |
| Tnip1 |
A |
T |
11: 54,828,810 (GRCm39) |
M119K |
probably benign |
Het |
| Zbbx |
A |
C |
3: 75,058,755 (GRCm39) |
S51A |
possibly damaging |
Het |
| Zc3h12c |
T |
C |
9: 52,028,000 (GRCm39) |
N454S |
probably benign |
Het |
| Zfp980 |
G |
A |
4: 145,428,653 (GRCm39) |
G461S |
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 |
|
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'- GGTCTTCTTAGCAAGGCAGTAAC -3'
(R):5'- GTTTGCAAGCATCATGGAGGG -3'
Sequencing Primer
(F):5'- GGCAGTAACTTAGAATTCATGACCC -3'
(R):5'- ATCATGGAGGGCTGGGCTC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation