Incidental Mutation 'R6855:Rasa3'
| ID |
535204 |
| 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 |
045024-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6855 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
13617218-13727590 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 13635029 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 430
(L430Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112998
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117551]
|
| AlphaFold |
Q60790 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117551
AA Change: L430Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112998
Gene: ENSMUSG00000031453
AA Change: L430Q
| 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 |
0.9737 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (57/57) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
G |
A |
6: 23,114,844 (GRCm39) |
S228F |
probably damaging |
Het |
| Cdh23 |
A |
T |
10: 60,141,901 (GRCm39) |
M3062K |
possibly damaging |
Het |
| Cdh8 |
G |
C |
8: 99,916,849 (GRCm39) |
S422C |
probably damaging |
Het |
| Col15a1 |
G |
T |
4: 47,245,544 (GRCm39) |
K98N |
probably damaging |
Het |
| Cyp3a57 |
T |
A |
5: 145,309,376 (GRCm39) |
L238H |
probably damaging |
Het |
| Dchs2 |
G |
A |
3: 83,255,501 (GRCm39) |
R2399H |
probably benign |
Het |
| Dennd4c |
A |
C |
4: 86,754,694 (GRCm39) |
H1568P |
probably benign |
Het |
| Dkk2 |
T |
G |
3: 131,883,683 (GRCm39) |
C194W |
probably damaging |
Het |
| Dnm2 |
C |
T |
9: 21,387,881 (GRCm39) |
R369C |
probably damaging |
Het |
| Efcab7 |
T |
G |
4: 99,757,777 (GRCm39) |
L308* |
probably null |
Het |
| Elp2 |
T |
A |
18: 24,739,934 (GRCm39) |
N53K |
possibly damaging |
Het |
| Eml6 |
T |
C |
11: 29,701,381 (GRCm39) |
|
probably null |
Het |
| Erich3 |
G |
T |
3: 154,468,286 (GRCm39) |
E913* |
probably null |
Het |
| Fam186a |
T |
A |
15: 99,852,756 (GRCm39) |
Y154F |
unknown |
Het |
| Fhl3 |
G |
A |
4: 124,601,315 (GRCm39) |
D113N |
probably benign |
Het |
| Fryl |
A |
T |
5: 73,216,843 (GRCm39) |
M2149K |
probably damaging |
Het |
| Gbf1 |
T |
C |
19: 46,268,380 (GRCm39) |
Y1251H |
probably benign |
Het |
| Ghitm |
C |
A |
14: 36,847,859 (GRCm39) |
G262W |
probably null |
Het |
| Gm14325 |
T |
A |
2: 177,474,635 (GRCm39) |
H148L |
probably damaging |
Het |
| Grxcr1 |
C |
A |
5: 68,189,437 (GRCm39) |
N69K |
possibly damaging |
Het |
| Itprid2 |
C |
T |
2: 79,488,049 (GRCm39) |
R711C |
probably damaging |
Het |
| Kcnma1 |
A |
G |
14: 23,417,679 (GRCm39) |
I846T |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,089,150 (GRCm39) |
Y1607C |
possibly damaging |
Het |
| Lrp1b |
G |
C |
2: 40,518,708 (GRCm39) |
H175D |
possibly damaging |
Het |
| Lrrc2 |
T |
A |
9: 110,782,250 (GRCm39) |
|
probably null |
Het |
| Mpp3 |
A |
G |
11: 101,904,151 (GRCm39) |
F291L |
probably benign |
Het |
| Nek7 |
C |
T |
1: 138,443,420 (GRCm39) |
G178R |
probably damaging |
Het |
| Nfil3 |
T |
A |
13: 53,122,641 (GRCm39) |
K88* |
probably null |
Het |
| Nit1 |
A |
C |
1: 171,171,130 (GRCm39) |
V194G |
probably damaging |
Het |
| Nup210 |
T |
C |
6: 91,017,835 (GRCm39) |
M1052V |
probably benign |
Het |
| Nup210l |
A |
G |
3: 90,044,231 (GRCm39) |
T511A |
probably benign |
Het |
| Nwd2 |
G |
T |
5: 63,961,794 (GRCm39) |
M459I |
probably benign |
Het |
| Or8k31-ps1 |
T |
C |
2: 86,356,513 (GRCm39) |
N3D |
probably benign |
Het |
| Peg3 |
A |
C |
7: 6,711,797 (GRCm39) |
S1142A |
probably benign |
Het |
| Phf3 |
T |
A |
1: 30,859,204 (GRCm39) |
K959N |
probably damaging |
Het |
| Piezo2 |
C |
T |
18: 63,223,950 (GRCm39) |
|
probably null |
Het |
| Pigz |
A |
G |
16: 31,764,036 (GRCm39) |
I365V |
possibly damaging |
Het |
| Plec |
T |
A |
15: 76,070,818 (GRCm39) |
Q860L |
probably damaging |
Het |
| Poglut2 |
C |
A |
1: 44,149,987 (GRCm39) |
E401* |
probably null |
Het |
| Ppp5c |
T |
G |
7: 16,740,891 (GRCm39) |
D359A |
possibly damaging |
Het |
| Pvr |
C |
T |
7: 19,643,139 (GRCm39) |
A365T |
possibly damaging |
Het |
| Pygm |
G |
T |
19: 6,443,787 (GRCm39) |
G583C |
probably damaging |
Het |
| Rims2 |
T |
G |
15: 39,208,911 (GRCm39) |
V198G |
probably benign |
Het |
| Rnf38 |
C |
T |
4: 44,149,224 (GRCm39) |
R41H |
probably damaging |
Het |
| Rptn |
G |
A |
3: 93,305,558 (GRCm39) |
V964I |
probably benign |
Het |
| Rrp1b |
A |
G |
17: 32,271,719 (GRCm39) |
D263G |
probably benign |
Het |
| Sgip1 |
T |
C |
4: 102,819,573 (GRCm39) |
C560R |
probably damaging |
Het |
| Shisal2b |
T |
C |
13: 105,000,214 (GRCm39) |
Q3R |
probably benign |
Het |
| Sidt1 |
A |
C |
16: 44,065,706 (GRCm39) |
I734S |
probably null |
Het |
| Ssh1 |
G |
T |
5: 114,080,636 (GRCm39) |
D931E |
probably damaging |
Het |
| Thumpd2 |
C |
A |
17: 81,351,599 (GRCm39) |
R274I |
probably damaging |
Het |
| Tpi1 |
T |
C |
6: 124,789,426 (GRCm39) |
D183G |
probably damaging |
Het |
| Trnt1 |
T |
A |
6: 106,754,883 (GRCm39) |
Y205N |
probably damaging |
Het |
| Tsc22d2 |
G |
A |
3: 58,324,235 (GRCm39) |
V376M |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,402,569 (GRCm39) |
V2454A |
possibly damaging |
Het |
| Uspl1 |
C |
A |
5: 149,124,655 (GRCm39) |
S24Y |
probably damaging |
Het |
| Vmn1r58 |
A |
C |
7: 5,413,451 (GRCm39) |
W260G |
possibly damaging |
Het |
| Vmn2r62 |
T |
A |
7: 42,438,412 (GRCm39) |
L141F |
probably benign |
Het |
| Zfp868 |
A |
C |
8: 70,064,230 (GRCm39) |
H368Q |
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 |
|
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'- TGGCTGAGCTCATTCCCTAG -3'
(R):5'- AGAAGTGCAGGTTCCTTGG -3'
Sequencing Primer
(F):5'- GAGCTCATTCCCTAGCTCAG -3'
(R):5'- AGTCTACATTCACTGACGCTGGG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation