Incidental Mutation 'R7486:Rasa3'
| ID |
580169 |
| 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 |
045560-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7486 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not 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 13640201 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam21 |
T |
C |
12: 81,605,657 (GRCm39) |
I702V |
probably benign |
Het |
| Adgre5 |
T |
C |
8: 84,450,515 (GRCm39) |
E815G |
probably damaging |
Het |
| Adgrl2 |
A |
G |
3: 148,523,330 (GRCm39) |
V298A |
|
Het |
| Akp3 |
A |
G |
1: 87,053,201 (GRCm39) |
D91G |
probably damaging |
Het |
| Ano8 |
A |
G |
8: 71,937,642 (GRCm39) |
|
probably null |
Het |
| Blvra |
T |
C |
2: 126,929,243 (GRCm39) |
S136P |
unknown |
Het |
| Cacul1 |
T |
A |
19: 60,568,868 (GRCm39) |
M97L |
probably benign |
Het |
| Ccdc80 |
T |
C |
16: 44,946,542 (GRCm39) |
V827A |
probably damaging |
Het |
| Cep68 |
T |
C |
11: 20,192,166 (GRCm39) |
E11G |
probably benign |
Het |
| Cfap221 |
A |
T |
1: 119,851,322 (GRCm39) |
V813E |
possibly damaging |
Het |
| Chd6 |
A |
G |
2: 160,791,923 (GRCm39) |
V2478A |
probably damaging |
Het |
| Chmp6 |
T |
C |
11: 119,807,783 (GRCm39) |
F148S |
probably benign |
Het |
| Clca3a2 |
T |
A |
3: 144,503,362 (GRCm39) |
I863F |
probably damaging |
Het |
| Cnnm2 |
T |
C |
19: 46,750,513 (GRCm39) |
V101A |
possibly damaging |
Het |
| Cpne8 |
A |
T |
15: 90,400,109 (GRCm39) |
|
probably null |
Het |
| Dmbt1 |
T |
G |
7: 130,668,192 (GRCm39) |
C483G |
unknown |
Het |
| Dnah7b |
G |
A |
1: 46,329,894 (GRCm39) |
G3246D |
probably damaging |
Het |
| Dnajc3 |
C |
A |
14: 119,209,816 (GRCm39) |
T297K |
probably benign |
Het |
| Dpm3 |
A |
G |
3: 89,174,034 (GRCm39) |
|
probably null |
Het |
| Eef2k |
A |
G |
7: 120,457,793 (GRCm39) |
N51D |
probably benign |
Het |
| Erc1 |
G |
A |
6: 119,571,907 (GRCm39) |
Q1022* |
probably null |
Het |
| Ercc5 |
T |
A |
1: 44,187,224 (GRCm39) |
M1K |
probably null |
Het |
| Fam114a2 |
C |
T |
11: 57,404,515 (GRCm39) |
G83D |
probably damaging |
Het |
| Fat4 |
C |
A |
3: 39,011,576 (GRCm39) |
Y2225* |
probably null |
Het |
| Frk |
G |
A |
10: 34,423,292 (GRCm39) |
W123* |
probably null |
Het |
| Gm11568 |
T |
A |
11: 99,749,292 (GRCm39) |
C166S |
unknown |
Het |
| Gpr153 |
A |
G |
4: 152,366,858 (GRCm39) |
D337G |
probably benign |
Het |
| Gpt2 |
T |
C |
8: 86,252,235 (GRCm39) |
F517L |
probably damaging |
Het |
| Gsg1 |
C |
T |
6: 135,214,427 (GRCm39) |
E361K |
probably benign |
Het |
| Hsfy2 |
G |
A |
1: 56,676,130 (GRCm39) |
R136* |
probably null |
Het |
| Insm1 |
G |
A |
2: 146,065,738 (GRCm39) |
R518H |
probably damaging |
Het |
| Kank1 |
G |
A |
19: 25,388,193 (GRCm39) |
C622Y |
probably damaging |
Het |
| Katnb1 |
T |
A |
8: 95,825,357 (GRCm39) |
S640R |
probably damaging |
Het |
| Kcnmb4 |
A |
G |
10: 116,254,180 (GRCm39) |
V199A |
probably benign |
Het |
| Lamb1 |
T |
G |
12: 31,337,441 (GRCm39) |
S391A |
probably benign |
Het |
| Larp7-ps |
A |
T |
4: 92,079,506 (GRCm39) |
V105E |
probably benign |
Het |
| Macf1 |
T |
G |
4: 123,303,374 (GRCm39) |
D376A |
probably benign |
Het |
| Map7d1 |
C |
A |
4: 126,128,179 (GRCm39) |
R614L |
unknown |
Het |
| Mcm8 |
C |
T |
2: 132,681,440 (GRCm39) |
R667W |
probably damaging |
Het |
| Med13l |
C |
T |
5: 118,866,539 (GRCm39) |
T531I |
probably benign |
Het |
| Mstn |
G |
T |
1: 53,103,128 (GRCm39) |
A155S |
probably damaging |
Het |
| Mycbp2 |
C |
T |
14: 103,434,690 (GRCm39) |
R2251K |
probably damaging |
Het |
| Myo19 |
T |
C |
11: 84,796,463 (GRCm39) |
S692P |
probably benign |
Het |
| Nipbl |
A |
T |
15: 8,325,120 (GRCm39) |
N2514K |
probably benign |
Het |
| Nkd2 |
T |
A |
13: 73,995,561 (GRCm39) |
|
probably benign |
Het |
| Nox3 |
T |
A |
17: 3,720,219 (GRCm39) |
Y322F |
probably damaging |
Het |
| Nt5dc1 |
A |
G |
10: 34,275,805 (GRCm39) |
Y135H |
probably benign |
Het |
| Oog3 |
T |
A |
4: 143,884,742 (GRCm39) |
H398L |
probably benign |
Het |
| Or10g9 |
T |
A |
9: 39,912,181 (GRCm39) |
Y114F |
probably benign |
Het |
| Or12j4 |
C |
T |
7: 140,045,947 (GRCm39) |
|
probably benign |
Het |
| Or1e29 |
T |
C |
11: 73,667,847 (GRCm39) |
Y102C |
probably damaging |
Het |
| Otogl |
A |
G |
10: 107,657,849 (GRCm39) |
L1027P |
probably damaging |
Het |
| Pcdh20 |
T |
A |
14: 88,706,050 (GRCm39) |
I417F |
possibly damaging |
Het |
| Pcdha12 |
T |
A |
18: 37,154,610 (GRCm39) |
V443E |
probably damaging |
Het |
| Pcdhga2 |
A |
G |
18: 37,803,461 (GRCm39) |
D435G |
probably benign |
Het |
| Pcnt |
G |
T |
10: 76,254,270 (GRCm39) |
T853K |
probably benign |
Het |
| Pcnt |
T |
C |
10: 76,254,271 (GRCm39) |
T853A |
probably benign |
Het |
| Pgghg |
T |
A |
7: 140,522,393 (GRCm39) |
S57R |
probably benign |
Het |
| Ppm1m |
T |
C |
9: 106,073,810 (GRCm39) |
D301G |
probably damaging |
Het |
| Ppp6r1 |
A |
G |
7: 4,642,899 (GRCm39) |
V519A |
probably benign |
Het |
| Prss41 |
ACAGCAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCAGCA |
17: 24,063,072 (GRCm39) |
|
probably benign |
Het |
| Robo4 |
T |
C |
9: 37,316,870 (GRCm39) |
V395A |
probably damaging |
Het |
| Scrib |
A |
G |
15: 75,929,499 (GRCm39) |
S1123P |
probably damaging |
Het |
| Setd1b |
A |
G |
5: 123,301,655 (GRCm39) |
K45E |
probably benign |
Het |
| Slc14a1 |
T |
C |
18: 78,154,739 (GRCm39) |
S216G |
probably benign |
Het |
| Slc25a45 |
A |
G |
19: 5,934,997 (GRCm39) |
Y282C |
probably damaging |
Het |
| Slc6a5 |
T |
C |
7: 49,567,078 (GRCm39) |
S255P |
possibly damaging |
Het |
| Smc2 |
A |
T |
4: 52,462,861 (GRCm39) |
Q617L |
possibly damaging |
Het |
| Spo11 |
G |
A |
2: 172,825,870 (GRCm39) |
D103N |
probably benign |
Het |
| Tcf20 |
A |
T |
15: 82,737,935 (GRCm39) |
M1172K |
possibly damaging |
Het |
| Tesc |
T |
A |
5: 118,184,382 (GRCm39) |
S21T |
probably benign |
Het |
| Tie1 |
C |
A |
4: 118,337,101 (GRCm39) |
|
probably null |
Het |
| Trim24 |
T |
G |
6: 37,934,774 (GRCm39) |
|
probably null |
Het |
| Trpm7 |
A |
G |
2: 126,673,115 (GRCm39) |
|
probably null |
Het |
| Unc13d |
T |
C |
11: 115,965,259 (GRCm39) |
D193G |
possibly damaging |
Het |
| Upk3a |
A |
T |
15: 84,902,225 (GRCm39) |
|
probably null |
Het |
| Vmn2r25 |
T |
C |
6: 123,800,101 (GRCm39) |
N747S |
probably damaging |
Het |
| Wipf1 |
GCCTCCTCCTCCTCCTCCTCCTCC |
GCCTCCTCCTCCTCCTCCTCC |
2: 73,270,418 (GRCm39) |
|
probably benign |
Het |
| Zbtb2 |
G |
A |
10: 4,319,025 (GRCm39) |
Q334* |
probably null |
Het |
| Zfp653 |
T |
C |
9: 21,967,824 (GRCm39) |
N494D |
probably damaging |
Het |
| Zfp865 |
A |
G |
7: 5,034,259 (GRCm39) |
D748G |
possibly damaging |
Het |
| Zzef1 |
T |
C |
11: 72,755,612 (GRCm39) |
S1014P |
possibly 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 |
|
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'- CCTTCAGTATGGTCAGCTCTG -3'
(R):5'- CTGAGAACAGGAGGCCTTTG -3'
Sequencing Primer
(F):5'- CAGTATGGTCAGCTCTGTCTGC -3'
(R):5'- ACTGGGAAGCAGGGTCC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation