Incidental Mutation 'R8726:Rasa3'
ID |
662429 |
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 |
068616-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8726 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
13617218-13727590 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 13626381 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 734
(Y734C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112998
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117551]
|
AlphaFold |
Q60790 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000117551
AA Change: Y734C
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000112998 Gene: ENSMUSG00000031453 AA Change: Y734C
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
100% (76/76) |
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810408A11Rik |
A |
G |
11: 69,789,207 (GRCm39) |
S331P |
possibly damaging |
Het |
4930433I11Rik |
A |
G |
7: 40,644,226 (GRCm39) |
M632V |
probably benign |
Het |
9930111J21Rik2 |
A |
C |
11: 48,910,507 (GRCm39) |
V642G |
probably damaging |
Het |
Abcd4 |
A |
T |
12: 84,651,171 (GRCm39) |
|
probably benign |
Het |
Acsbg1 |
T |
C |
9: 54,525,462 (GRCm39) |
E363G |
probably damaging |
Het |
Ank3 |
T |
A |
10: 69,823,084 (GRCm39) |
H584Q |
|
Het |
Ankrd11 |
A |
T |
8: 123,620,765 (GRCm39) |
L1029Q |
possibly damaging |
Het |
Anpep |
C |
T |
7: 79,490,641 (GRCm39) |
V292I |
probably benign |
Het |
Atmin |
G |
A |
8: 117,681,525 (GRCm39) |
D175N |
possibly damaging |
Het |
B4galt6 |
T |
C |
18: 20,821,450 (GRCm39) |
I359M |
possibly damaging |
Het |
Bicd2 |
A |
G |
13: 49,532,905 (GRCm39) |
D497G |
probably damaging |
Het |
Calcr |
C |
T |
6: 3,707,489 (GRCm39) |
|
probably benign |
Het |
Camkk2 |
G |
T |
5: 122,882,002 (GRCm39) |
D418E |
probably benign |
Het |
Cntn3 |
A |
T |
6: 102,146,014 (GRCm39) |
Y942* |
probably null |
Het |
Col8a1 |
C |
T |
16: 57,449,138 (GRCm39) |
R124H |
probably damaging |
Het |
Coro7 |
T |
C |
16: 4,486,619 (GRCm39) |
T185A |
possibly damaging |
Het |
Creb3 |
C |
T |
4: 43,566,747 (GRCm39) |
P364S |
probably benign |
Het |
Csf1r |
A |
T |
18: 61,250,728 (GRCm39) |
T480S |
probably benign |
Het |
Csnk1g1 |
T |
A |
9: 65,909,553 (GRCm39) |
H223Q |
probably damaging |
Het |
Ctns |
C |
T |
11: 73,078,613 (GRCm39) |
V171M |
probably benign |
Het |
Dhx15 |
A |
T |
5: 52,311,568 (GRCm39) |
N637K |
probably benign |
Het |
Eif4g1 |
T |
C |
16: 20,494,232 (GRCm39) |
Y103H |
probably damaging |
Het |
Eif4g2 |
C |
T |
7: 110,676,629 (GRCm39) |
R295H |
probably damaging |
Het |
Fat1 |
C |
T |
8: 45,477,206 (GRCm39) |
P2084L |
probably benign |
Het |
Fat4 |
A |
G |
3: 39,064,647 (GRCm39) |
R4868G |
probably damaging |
Het |
Fbxo31 |
A |
T |
8: 122,282,014 (GRCm39) |
Y295* |
probably null |
Het |
Fmn2 |
C |
A |
1: 174,437,404 (GRCm39) |
T1125N |
possibly damaging |
Het |
Foxi2 |
C |
A |
7: 135,012,133 (GRCm39) |
P7Q |
probably damaging |
Het |
Hmx1 |
C |
T |
5: 35,549,100 (GRCm39) |
P131L |
probably damaging |
Het |
Hrh2 |
T |
C |
13: 54,368,171 (GRCm39) |
L49P |
probably damaging |
Het |
Hycc2 |
T |
C |
1: 58,585,285 (GRCm39) |
T171A |
possibly damaging |
Het |
Igkv6-14 |
A |
G |
6: 70,412,125 (GRCm39) |
V53A |
possibly damaging |
Het |
Kcnb2 |
C |
A |
1: 15,780,876 (GRCm39) |
Q583K |
probably benign |
Het |
Kcns3 |
A |
G |
12: 11,141,692 (GRCm39) |
S336P |
probably damaging |
Het |
Kremen2 |
G |
T |
17: 23,961,720 (GRCm39) |
F262L |
probably damaging |
Het |
Krtap9-1 |
T |
A |
11: 99,764,577 (GRCm39) |
C104* |
probably null |
Het |
Ky |
A |
G |
9: 102,405,102 (GRCm39) |
Y199C |
probably damaging |
Het |
L1td1 |
T |
G |
4: 98,622,215 (GRCm39) |
L259R |
probably damaging |
Het |
Lrba |
A |
G |
3: 86,261,062 (GRCm39) |
T1473A |
probably benign |
Het |
Lrp6 |
A |
T |
6: 134,484,624 (GRCm39) |
L333* |
probably null |
Het |
Lrrc23 |
T |
C |
6: 124,753,043 (GRCm39) |
N201S |
probably benign |
Het |
Map4k4 |
C |
A |
1: 40,043,142 (GRCm39) |
P666T |
possibly damaging |
Het |
Matn1 |
T |
A |
4: 130,679,514 (GRCm39) |
D389E |
probably damaging |
Het |
Mdc1 |
G |
T |
17: 36,158,475 (GRCm39) |
G285V |
probably benign |
Het |
Mettl17 |
T |
C |
14: 52,128,187 (GRCm39) |
|
probably null |
Het |
Mknk1 |
A |
T |
4: 115,730,506 (GRCm39) |
|
probably benign |
Het |
Neurod1 |
A |
T |
2: 79,284,430 (GRCm39) |
F318I |
possibly damaging |
Het |
Nfya |
T |
C |
17: 48,699,445 (GRCm39) |
T213A |
probably damaging |
Het |
Nmrk1 |
C |
T |
19: 18,616,902 (GRCm39) |
T17M |
probably damaging |
Het |
Ntrk1 |
A |
C |
3: 87,693,396 (GRCm39) |
D245E |
probably benign |
Het |
Nup160 |
C |
A |
2: 90,563,545 (GRCm39) |
H1370Q |
possibly damaging |
Het |
Or11h6 |
A |
C |
14: 50,880,703 (GRCm39) |
K316Q |
probably benign |
Het |
Or5w8 |
T |
C |
2: 87,688,161 (GRCm39) |
V214A |
probably benign |
Het |
Or6x1 |
T |
A |
9: 40,098,663 (GRCm39) |
V84E |
probably damaging |
Het |
Parp4 |
G |
A |
14: 56,866,556 (GRCm39) |
R1040H |
probably benign |
Het |
Pdia4 |
C |
A |
6: 47,785,200 (GRCm39) |
E56* |
probably null |
Het |
Pdia5 |
A |
G |
16: 35,269,784 (GRCm39) |
F175S |
probably damaging |
Het |
Piezo2 |
C |
T |
18: 63,242,956 (GRCm39) |
S621N |
probably benign |
Het |
Pigw |
T |
C |
11: 84,768,643 (GRCm39) |
T229A |
possibly damaging |
Het |
Rfx7 |
T |
A |
9: 72,500,505 (GRCm39) |
|
probably benign |
Het |
Rims1 |
T |
C |
1: 22,633,181 (GRCm39) |
D178G |
possibly damaging |
Het |
Ros1 |
A |
G |
10: 51,954,769 (GRCm39) |
V1853A |
possibly damaging |
Het |
Rps7 |
A |
G |
12: 28,681,714 (GRCm39) |
I139T |
probably benign |
Het |
Sall3 |
T |
C |
18: 81,029,708 (GRCm39) |
D15G |
possibly damaging |
Het |
Scn1a |
A |
T |
2: 66,133,983 (GRCm39) |
V137D |
probably benign |
Het |
Slc23a3 |
G |
A |
1: 75,106,173 (GRCm39) |
P349S |
probably benign |
Het |
Slc35a5 |
C |
G |
16: 44,964,021 (GRCm39) |
R404P |
probably damaging |
Het |
Stard13 |
A |
T |
5: 150,986,607 (GRCm39) |
M301K |
probably benign |
Het |
Suclg2 |
A |
G |
6: 95,632,489 (GRCm39) |
F60S |
probably damaging |
Het |
Tecpr2 |
T |
A |
12: 110,904,668 (GRCm39) |
F887L |
possibly damaging |
Het |
Tekt4 |
G |
T |
17: 25,691,033 (GRCm39) |
W113L |
probably damaging |
Het |
Tep1 |
G |
A |
14: 51,085,080 (GRCm39) |
S901F |
probably damaging |
Het |
Tex11 |
C |
T |
X: 100,059,191 (GRCm39) |
V190I |
possibly damaging |
Het |
Thbs1 |
T |
A |
2: 117,949,957 (GRCm39) |
|
probably null |
Het |
Tm9sf4 |
T |
A |
2: 153,040,295 (GRCm39) |
V425D |
probably damaging |
Het |
Tpo |
A |
G |
12: 30,105,137 (GRCm39) |
L911P |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,729,301 (GRCm39) |
Q5332R |
unknown |
Het |
Wdr59 |
A |
T |
8: 112,223,466 (GRCm39) |
D169E |
|
Het |
Zfp799 |
C |
A |
17: 33,039,166 (GRCm39) |
G367C |
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 |
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'- TTGCTCCTAAAACCATGCCAAG -3'
(R):5'- AGGCTATTCTGGGTCATTCCTAC -3'
Sequencing Primer
(F):5'- AAGCTCCAGGGTCCTTAAGTG -3'
(R):5'- GTCTCTGCTGTCTTTGGAC -3'
|
Posted On |
2021-03-08 |