Incidental Mutation 'R5435:Rasa3'
| ID |
428264 |
| 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 |
043000-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5435 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
13617218-13727590 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13681811 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 46
(E46G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112998
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117551]
[ENSMUST00000154454]
|
| AlphaFold |
Q60790 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117551
AA Change: E46G
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112998
Gene: ENSMUSG00000031453
AA Change: E46G
| 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: ENSMUST00000132439
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154454
|
| Meta Mutation Damage Score |
0.3190 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (74/74) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
G |
14: 32,383,413 (GRCm39) |
F851L |
probably benign |
Het |
| Abca17 |
C |
T |
17: 24,486,588 (GRCm39) |
V1480I |
possibly damaging |
Het |
| Acsbg1 |
G |
T |
9: 54,523,153 (GRCm39) |
Y491* |
probably null |
Het |
| Acsf3 |
T |
A |
8: 123,507,020 (GRCm39) |
N104K |
probably damaging |
Het |
| Adam23 |
T |
C |
1: 63,585,612 (GRCm39) |
Y400H |
possibly damaging |
Het |
| Adgra3 |
G |
A |
5: 50,147,468 (GRCm39) |
T524M |
probably damaging |
Het |
| Aff1 |
G |
A |
5: 103,902,198 (GRCm39) |
|
probably benign |
Het |
| Anxa9 |
T |
C |
3: 95,204,561 (GRCm39) |
Y321C |
probably damaging |
Het |
| Ap1g1 |
T |
A |
8: 110,565,552 (GRCm39) |
Y329N |
probably damaging |
Het |
| Aph1c |
A |
T |
9: 66,741,783 (GRCm39) |
I33N |
possibly damaging |
Het |
| B3galnt2 |
A |
G |
13: 14,171,575 (GRCm39) |
E491G |
probably benign |
Het |
| Bdh1 |
C |
T |
16: 31,275,475 (GRCm39) |
R235C |
probably damaging |
Het |
| Ccar2 |
A |
G |
14: 70,376,776 (GRCm39) |
L856P |
probably damaging |
Het |
| Ccdc107 |
A |
T |
4: 43,493,519 (GRCm39) |
D30V |
probably damaging |
Het |
| Ccdc116 |
G |
T |
16: 16,960,626 (GRCm39) |
H64N |
probably benign |
Het |
| Ccl12 |
T |
C |
11: 81,994,001 (GRCm39) |
I86T |
possibly damaging |
Het |
| Col2a1 |
T |
C |
15: 97,898,391 (GRCm39) |
|
probably benign |
Het |
| Col4a4 |
T |
A |
1: 82,431,728 (GRCm39) |
I1519F |
unknown |
Het |
| Ddx19b |
T |
C |
8: 111,735,458 (GRCm39) |
Q416R |
possibly damaging |
Het |
| Dnah6 |
T |
A |
6: 73,037,121 (GRCm39) |
M3374L |
probably benign |
Het |
| Dnajc6 |
A |
T |
4: 101,463,807 (GRCm39) |
I119F |
probably damaging |
Het |
| Ensa |
C |
A |
3: 95,529,769 (GRCm39) |
|
probably benign |
Het |
| Fbxo4 |
C |
T |
15: 3,995,274 (GRCm39) |
V357I |
possibly damaging |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Foxf1 |
G |
A |
8: 121,811,231 (GRCm39) |
G32S |
probably damaging |
Het |
| Gls2 |
G |
A |
10: 128,030,995 (GRCm39) |
|
probably benign |
Het |
| Gm13599 |
T |
A |
2: 67,226,496 (GRCm39) |
|
noncoding transcript |
Het |
| Gmnn |
A |
G |
13: 24,936,084 (GRCm39) |
S197P |
probably benign |
Het |
| Guf1 |
A |
T |
5: 69,720,512 (GRCm39) |
H324L |
probably benign |
Het |
| H2-Q6 |
A |
G |
17: 35,644,661 (GRCm39) |
D150G |
probably damaging |
Het |
| Herc3 |
T |
A |
6: 58,832,791 (GRCm39) |
L152Q |
probably damaging |
Het |
| Hnrnpul2 |
T |
G |
19: 8,797,682 (GRCm39) |
S13A |
probably benign |
Het |
| Ighv5-4 |
A |
G |
12: 113,561,283 (GRCm39) |
F46L |
probably benign |
Het |
| Kank1 |
T |
G |
19: 25,388,507 (GRCm39) |
S727A |
probably benign |
Het |
| Kcnma1 |
A |
T |
14: 23,578,472 (GRCm39) |
Y201* |
probably null |
Het |
| Lyst |
A |
T |
13: 13,951,649 (GRCm39) |
H3750L |
possibly damaging |
Het |
| Mettl25 |
A |
G |
10: 105,615,447 (GRCm39) |
|
probably null |
Het |
| Mpdz |
A |
G |
4: 81,201,724 (GRCm39) |
|
probably benign |
Het |
| Myh9 |
C |
T |
15: 77,653,809 (GRCm39) |
V1280I |
probably benign |
Het |
| Neto1 |
A |
T |
18: 86,416,388 (GRCm39) |
T32S |
probably benign |
Het |
| Nol7 |
C |
A |
13: 43,554,848 (GRCm39) |
H187Q |
possibly damaging |
Het |
| Or5ak22 |
T |
A |
2: 85,230,814 (GRCm39) |
N21I |
probably benign |
Het |
| Pcdha8 |
A |
G |
18: 37,126,652 (GRCm39) |
D378G |
probably damaging |
Het |
| Peak1 |
A |
G |
9: 56,113,770 (GRCm39) |
S694P |
probably damaging |
Het |
| Pih1d1 |
T |
A |
7: 44,805,696 (GRCm39) |
|
probably null |
Het |
| Pik3c2g |
T |
G |
6: 139,661,581 (GRCm39) |
|
probably null |
Het |
| Prkar2a |
A |
G |
9: 108,617,682 (GRCm39) |
R247G |
probably damaging |
Het |
| Psg26 |
A |
G |
7: 18,212,398 (GRCm39) |
I319T |
possibly damaging |
Het |
| R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
| Rbbp5 |
T |
A |
1: 132,422,013 (GRCm39) |
H304Q |
probably damaging |
Het |
| Relch |
T |
A |
1: 105,668,975 (GRCm39) |
|
probably benign |
Het |
| Scn1a |
T |
A |
2: 66,103,878 (GRCm39) |
E1783V |
probably damaging |
Het |
| Stag1 |
A |
G |
9: 100,835,603 (GRCm39) |
N151S |
probably benign |
Het |
| Tbc1d32 |
C |
A |
10: 55,916,246 (GRCm39) |
A1191S |
probably damaging |
Het |
| Tchh |
C |
A |
3: 93,350,979 (GRCm39) |
R140S |
possibly damaging |
Het |
| Trank1 |
A |
G |
9: 111,220,958 (GRCm39) |
Y2565C |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,744,702 (GRCm39) |
V5449D |
probably damaging |
Het |
| Tubgcp2 |
G |
A |
7: 139,575,985 (GRCm39) |
P893S |
possibly damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,742,268 (GRCm39) |
F2325S |
probably damaging |
Het |
| Wdr35 |
A |
G |
12: 9,039,951 (GRCm39) |
D352G |
probably benign |
Het |
| Wee1 |
TCCCC |
TCCC |
7: 109,723,776 (GRCm39) |
|
probably null |
Het |
| Ypel3 |
A |
G |
7: 126,374,960 (GRCm39) |
|
probably benign |
Het |
| Zan |
T |
A |
5: 137,402,024 (GRCm39) |
T4023S |
unknown |
Het |
| Zfp735 |
T |
A |
11: 73,602,939 (GRCm39) |
C628S |
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 |
|
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'- CCGAATCCAGTGGGTACTTC -3'
(R):5'- ACAGGTCTGCTTGTGAAGTG -3'
Sequencing Primer
(F):5'- GAATCCAGTGGGTACTTCTTCACATG -3'
(R):5'- GGTAGCTTGACGATATATGTGACTAC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation