Incidental Mutation 'R8728:Rasa3'
| ID |
662578 |
| 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 |
068576-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8728 (G1)
|
| Quality Score |
219.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
13617218-13727590 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 13636873 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 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 |
|
| Meta Mutation Damage Score |
0.9594 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
A |
G |
14: 66,295,086 (GRCm39) |
L253P |
probably damaging |
Het |
| Adamts20 |
C |
T |
15: 94,229,281 (GRCm39) |
G946D |
probably benign |
Het |
| Afdn |
A |
G |
17: 14,119,207 (GRCm39) |
R1648G |
probably damaging |
Het |
| Ak9 |
G |
A |
10: 41,282,959 (GRCm39) |
A1242T |
|
Het |
| Anxa9 |
T |
C |
3: 95,209,979 (GRCm39) |
K127E |
probably damaging |
Het |
| Atp6v0a2 |
T |
C |
5: 124,796,152 (GRCm39) |
S739P |
probably benign |
Het |
| Bloc1s6 |
A |
T |
2: 122,588,026 (GRCm39) |
M122L |
possibly damaging |
Het |
| Bltp3b |
A |
T |
10: 89,618,582 (GRCm39) |
M274L |
probably benign |
Het |
| Bms1 |
A |
G |
6: 118,369,331 (GRCm39) |
I990T |
possibly damaging |
Het |
| Ccdc9b |
T |
C |
2: 118,587,793 (GRCm39) |
T514A |
probably benign |
Het |
| Cdk14 |
G |
A |
5: 5,470,117 (GRCm39) |
|
silent |
Het |
| Celsr3 |
T |
C |
9: 108,723,940 (GRCm39) |
L2899S |
probably benign |
Het |
| Ces1b |
A |
T |
8: 93,798,576 (GRCm39) |
D203E |
probably benign |
Het |
| Cnnm1 |
A |
G |
19: 43,473,365 (GRCm39) |
N753S |
probably benign |
Het |
| Col19a1 |
C |
T |
1: 24,365,113 (GRCm39) |
G501R |
probably damaging |
Het |
| Cym |
A |
G |
3: 107,125,991 (GRCm39) |
F91L |
possibly damaging |
Het |
| Cyp2c67 |
T |
G |
19: 39,614,605 (GRCm39) |
R307S |
probably damaging |
Het |
| Cyp3a59 |
G |
A |
5: 146,035,122 (GRCm39) |
|
probably null |
Het |
| Cyp4a31 |
G |
A |
4: 115,422,225 (GRCm39) |
E70K |
probably benign |
Het |
| Dagla |
G |
A |
19: 10,225,771 (GRCm39) |
R798C |
probably damaging |
Het |
| Dcaf1 |
C |
T |
9: 106,724,005 (GRCm39) |
R478C |
possibly damaging |
Het |
| Dcbld1 |
T |
C |
10: 52,109,929 (GRCm39) |
L28P |
probably benign |
Het |
| Ddr2 |
T |
C |
1: 169,829,552 (GRCm39) |
D234G |
possibly damaging |
Het |
| Fam83a |
T |
A |
15: 57,873,062 (GRCm39) |
M297K |
possibly damaging |
Het |
| Galnt18 |
T |
A |
7: 111,119,243 (GRCm39) |
D426V |
probably damaging |
Het |
| Gm29735 |
ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA |
ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA |
7: 141,710,266 (GRCm39) |
|
probably benign |
Het |
| Gm43302 |
T |
C |
5: 105,438,793 (GRCm39) |
I32V |
probably benign |
Het |
| Gm9944 |
T |
C |
4: 144,179,601 (GRCm39) |
Y96C |
unknown |
Het |
| Hdac1-ps |
A |
G |
17: 78,800,332 (GRCm39) |
K441R |
probably benign |
Het |
| Impdh2 |
C |
T |
9: 108,437,562 (GRCm39) |
|
probably benign |
Het |
| Iws1 |
G |
A |
18: 32,216,334 (GRCm39) |
R358Q |
probably damaging |
Het |
| Kctd18 |
G |
T |
1: 58,002,289 (GRCm39) |
D179E |
probably damaging |
Het |
| Krt13 |
T |
G |
11: 100,012,318 (GRCm39) |
S2R |
probably null |
Het |
| Krt78 |
A |
T |
15: 101,856,225 (GRCm39) |
S529T |
probably benign |
Het |
| Krtap4-7 |
C |
G |
11: 99,534,788 (GRCm39) |
C25S |
unknown |
Het |
| Lama1 |
T |
C |
17: 68,125,663 (GRCm39) |
I2940T |
|
Het |
| Lmnb2 |
A |
G |
10: 80,740,913 (GRCm39) |
|
probably null |
Het |
| Lrrc27 |
A |
T |
7: 138,822,555 (GRCm39) |
E482V |
probably damaging |
Het |
| Lrrc72 |
G |
A |
12: 36,258,656 (GRCm39) |
T67M |
probably benign |
Het |
| Malrd1 |
T |
A |
2: 15,701,753 (GRCm39) |
C789* |
probably null |
Het |
| Mei1 |
T |
G |
15: 81,966,182 (GRCm39) |
V268G |
|
Het |
| Mical3 |
C |
A |
6: 120,950,514 (GRCm39) |
A966S |
probably damaging |
Het |
| Mmp10 |
C |
T |
9: 7,502,480 (GRCm39) |
P29L |
probably benign |
Het |
| Mroh2b |
T |
C |
15: 4,935,122 (GRCm39) |
F186L |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,754,952 (GRCm38) |
T1609S |
unknown |
Het |
| Myrfl |
A |
T |
10: 116,634,545 (GRCm39) |
C616* |
probably null |
Het |
| Ncor1 |
C |
T |
11: 62,221,685 (GRCm39) |
A946T |
probably benign |
Het |
| Or10al6 |
C |
A |
17: 38,082,642 (GRCm39) |
L33M |
probably damaging |
Het |
| Or2t48 |
T |
C |
11: 58,420,027 (GRCm39) |
T262A |
probably benign |
Het |
| Pbp2 |
T |
C |
6: 135,287,104 (GRCm39) |
Y81C |
probably benign |
Het |
| Plekhh1 |
C |
A |
12: 79,115,862 (GRCm39) |
Q802K |
possibly damaging |
Het |
| Pnldc1 |
A |
T |
17: 13,116,165 (GRCm39) |
F279Y |
probably damaging |
Het |
| Psmb5 |
A |
T |
14: 54,855,261 (GRCm39) |
L63Q |
probably damaging |
Het |
| Rbm4b |
G |
A |
19: 4,812,219 (GRCm39) |
M209I |
probably benign |
Het |
| Rnf38 |
A |
G |
4: 44,131,615 (GRCm39) |
S421P |
probably benign |
Het |
| Sema5a |
T |
C |
15: 32,562,703 (GRCm39) |
V238A |
probably damaging |
Het |
| Sesn1 |
G |
T |
10: 41,779,771 (GRCm39) |
G402W |
probably damaging |
Het |
| Six4 |
A |
G |
12: 73,159,180 (GRCm39) |
V260A |
probably benign |
Het |
| Srrm2 |
G |
A |
17: 24,038,831 (GRCm39) |
R1825Q |
unknown |
Het |
| Stat1 |
G |
A |
1: 52,178,353 (GRCm39) |
W262* |
probably null |
Het |
| Tcf20 |
A |
T |
15: 82,739,158 (GRCm39) |
D764E |
probably damaging |
Het |
| Tgm2 |
T |
C |
2: 157,962,065 (GRCm39) |
N585D |
probably benign |
Het |
| Tmf1 |
A |
T |
6: 97,133,821 (GRCm39) |
L1039H |
probably damaging |
Het |
| Trak2 |
A |
G |
1: 58,974,934 (GRCm39) |
V86A |
probably benign |
Het |
| Ttc39b |
A |
G |
4: 83,171,247 (GRCm39) |
I202T |
probably damaging |
Het |
| Vmn1r30 |
A |
G |
6: 58,412,460 (GRCm39) |
F124S |
probably benign |
Het |
| Vwa7 |
T |
A |
17: 35,236,133 (GRCm39) |
F29Y |
probably damaging |
Het |
| Wdr64 |
A |
T |
1: 175,559,079 (GRCm39) |
M281L |
probably benign |
Het |
| Zfand2a |
C |
T |
5: 139,467,753 (GRCm39) |
V40M |
possibly damaging |
Het |
| Zfp865 |
G |
C |
7: 5,034,819 (GRCm39) |
A935P |
probably damaging |
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 |
|
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'- AGGCAGAGAGGATTCTGGGATAC -3'
(R):5'- GATCAGCAGCCAGTGATGACCT -3'
Sequencing Primer
(F):5'- GATTCTGGGATACATACAGC -3'
(R):5'- TTTGCAGTCTGGGGCTTTTG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation