Incidental Mutation 'R4702:Rasa3'
| ID |
356135 |
| 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 |
041950-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4702 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
13617218-13727590 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 13620394 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 758
(D758E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112998
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117551]
|
| AlphaFold |
Q60790 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117551
AA Change: D758E
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000112998
Gene: ENSMUSG00000031453
AA Change: D758E
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
T |
C |
2: 151,314,509 (GRCm39) |
T390A |
probably benign |
Het |
| Adam25 |
G |
T |
8: 41,207,163 (GRCm39) |
C143F |
probably damaging |
Het |
| Adra1a |
T |
C |
14: 66,875,008 (GRCm39) |
|
probably benign |
Het |
| Aff1 |
T |
C |
5: 103,958,935 (GRCm39) |
Y343H |
probably damaging |
Het |
| Antxr2 |
C |
T |
5: 98,097,028 (GRCm39) |
|
probably null |
Het |
| Ap1m2 |
A |
G |
9: 21,209,591 (GRCm39) |
F362L |
probably benign |
Het |
| Apobec4 |
A |
G |
1: 152,632,001 (GRCm39) |
T10A |
probably benign |
Het |
| Armc3 |
A |
G |
2: 19,314,792 (GRCm39) |
N822S |
probably damaging |
Het |
| Atr |
A |
C |
9: 95,802,408 (GRCm39) |
T1767P |
possibly damaging |
Het |
| B4galnt1 |
G |
T |
10: 127,003,394 (GRCm39) |
V172F |
possibly damaging |
Het |
| Bloc1s1 |
T |
A |
10: 128,759,267 (GRCm39) |
Q13L |
probably damaging |
Het |
| Blvra |
A |
C |
2: 126,933,982 (GRCm39) |
I125L |
probably benign |
Het |
| Caps2 |
T |
C |
10: 112,044,252 (GRCm39) |
F484L |
probably damaging |
Het |
| Cep76 |
A |
T |
18: 67,767,968 (GRCm39) |
I188K |
possibly damaging |
Het |
| Cidea |
T |
A |
18: 67,500,498 (GRCm39) |
F187I |
probably benign |
Het |
| Cntn3 |
T |
A |
6: 102,142,292 (GRCm39) |
N1025I |
probably benign |
Het |
| Cntnap3 |
A |
T |
13: 64,926,676 (GRCm39) |
C565S |
probably benign |
Het |
| Cyp2d22 |
A |
C |
15: 82,260,118 (GRCm39) |
L22R |
probably damaging |
Het |
| Cyp2d26 |
C |
T |
15: 82,676,648 (GRCm39) |
|
probably benign |
Het |
| Cyp2j12 |
A |
T |
4: 96,021,230 (GRCm39) |
|
probably null |
Het |
| Dnajb13 |
T |
C |
7: 100,153,748 (GRCm39) |
N229S |
probably benign |
Het |
| Dpys |
A |
G |
15: 39,656,798 (GRCm39) |
V423A |
possibly damaging |
Het |
| Eif4e1b |
A |
T |
13: 54,935,138 (GRCm39) |
I222F |
probably damaging |
Het |
| Eif5b |
A |
T |
1: 38,057,958 (GRCm39) |
N87Y |
unknown |
Het |
| Enam |
T |
A |
5: 88,651,650 (GRCm39) |
L1053* |
probably null |
Het |
| Epha7 |
T |
A |
4: 28,961,425 (GRCm39) |
L890Q |
probably damaging |
Het |
| Fancm |
T |
A |
12: 65,168,826 (GRCm39) |
S1730T |
possibly damaging |
Het |
| Flrt3 |
A |
G |
2: 140,503,575 (GRCm39) |
F18L |
probably benign |
Het |
| Git2 |
A |
G |
5: 114,883,543 (GRCm39) |
S396P |
probably damaging |
Het |
| H2-M10.4 |
A |
G |
17: 36,772,874 (GRCm39) |
I36T |
probably benign |
Het |
| Igfn1 |
G |
A |
1: 135,894,947 (GRCm39) |
S1873L |
possibly damaging |
Het |
| Ints12 |
A |
T |
3: 132,802,546 (GRCm39) |
D10V |
probably damaging |
Het |
| Kbtbd2 |
A |
G |
6: 56,756,288 (GRCm39) |
S483P |
probably benign |
Het |
| Kcnv2 |
G |
C |
19: 27,300,967 (GRCm39) |
A273P |
probably damaging |
Het |
| Klc3 |
T |
G |
7: 19,129,756 (GRCm39) |
D371A |
probably damaging |
Het |
| Lama3 |
T |
A |
18: 12,711,086 (GRCm39) |
L1567* |
probably null |
Het |
| Ldhal6b |
G |
T |
17: 5,468,582 (GRCm39) |
H117Q |
probably damaging |
Het |
| Lrriq1 |
G |
T |
10: 103,051,610 (GRCm39) |
Q381K |
possibly damaging |
Het |
| Mrps31 |
T |
A |
8: 22,909,754 (GRCm39) |
L140Q |
probably damaging |
Het |
| Myo15b |
A |
G |
11: 115,774,834 (GRCm39) |
T2119A |
probably benign |
Het |
| Nkx6-2 |
T |
C |
7: 139,161,456 (GRCm39) |
D243G |
probably damaging |
Het |
| Or1ab2 |
T |
A |
8: 72,864,044 (GRCm39) |
F211L |
probably damaging |
Het |
| Or8b3b |
A |
T |
9: 38,584,776 (GRCm39) |
M1K |
probably null |
Het |
| Papln |
C |
T |
12: 83,828,757 (GRCm39) |
T821I |
probably benign |
Het |
| Pitpnb |
T |
G |
5: 111,519,218 (GRCm39) |
V166G |
probably benign |
Het |
| Pla2g15 |
T |
A |
8: 106,889,691 (GRCm39) |
M321K |
probably benign |
Het |
| Plcxd3 |
C |
A |
15: 4,405,269 (GRCm39) |
S25R |
probably benign |
Het |
| Ppargc1a |
T |
C |
5: 51,653,038 (GRCm39) |
I175V |
possibly damaging |
Het |
| Ppp1r13b |
T |
A |
12: 111,799,715 (GRCm39) |
Q687H |
probably benign |
Het |
| Prpf3 |
A |
G |
3: 95,741,404 (GRCm39) |
V584A |
probably damaging |
Het |
| Psen2 |
A |
G |
1: 180,055,289 (GRCm39) |
L399S |
probably damaging |
Het |
| Ptchd3 |
G |
A |
11: 121,727,235 (GRCm39) |
V370I |
probably damaging |
Het |
| Reck |
T |
C |
4: 43,898,060 (GRCm39) |
C113R |
probably damaging |
Het |
| Resf1 |
A |
G |
6: 149,230,901 (GRCm39) |
T1316A |
probably benign |
Het |
| Ric1 |
T |
A |
19: 29,575,417 (GRCm39) |
F1009I |
possibly damaging |
Het |
| Rrp12 |
T |
C |
19: 41,859,975 (GRCm39) |
N1035S |
probably damaging |
Het |
| Rtel1 |
T |
A |
2: 180,993,962 (GRCm39) |
S849T |
probably benign |
Het |
| Scn10a |
A |
T |
9: 119,462,857 (GRCm39) |
Y1060N |
possibly damaging |
Het |
| Selenov |
A |
G |
7: 27,987,436 (GRCm39) |
L314P |
probably damaging |
Het |
| Selplg |
T |
C |
5: 113,957,094 (GRCm39) |
D404G |
probably benign |
Het |
| Slc7a14 |
T |
A |
3: 31,284,547 (GRCm39) |
Y263F |
probably damaging |
Het |
| Slco3a1 |
A |
G |
7: 73,970,315 (GRCm39) |
S431P |
probably damaging |
Het |
| Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
| Spopl |
A |
T |
2: 23,405,309 (GRCm39) |
|
probably null |
Het |
| Stk10 |
A |
T |
11: 32,505,172 (GRCm39) |
T69S |
probably benign |
Het |
| Tbxas1 |
T |
C |
6: 39,060,791 (GRCm39) |
|
probably null |
Het |
| Tec |
G |
A |
5: 72,941,074 (GRCm39) |
P161L |
possibly damaging |
Het |
| Tnip1 |
A |
G |
11: 54,815,228 (GRCm39) |
S339P |
probably benign |
Het |
| Tsen34 |
T |
A |
7: 3,703,632 (GRCm39) |
V290D |
probably damaging |
Het |
| Tuba1a |
T |
A |
15: 98,849,563 (GRCm39) |
I5F |
possibly damaging |
Het |
| Vmn1r31 |
C |
A |
6: 58,448,953 (GRCm39) |
*304L |
probably null |
Het |
| Vmn1r63 |
T |
C |
7: 5,806,516 (GRCm39) |
R39G |
possibly damaging |
Het |
| Xylt2 |
A |
G |
11: 94,560,355 (GRCm39) |
Y307H |
possibly damaging |
Het |
| Zfp65 |
A |
G |
13: 67,872,341 (GRCm39) |
M1T |
probably null |
Het |
| Zmym4 |
T |
C |
4: 126,816,958 (GRCm39) |
I247V |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTGAAGGTCCCGATCTCTAG -3'
(R):5'- ACAGTGTTTGACTCCCGAAGTG -3'
Sequencing Primer
(F):5'- TAGATCAACCCCAGTGGCTAGG -3'
(R):5'- GAAGTGGCCCCTTTCTTTTCTGAG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation