Incidental Mutation 'R7999:Rasa3'
| ID |
616266 |
| 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 |
046039-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7999 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
13617218-13727590 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13681805 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 48
(F48S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112998
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117551]
[ENSMUST00000154454]
|
| AlphaFold |
Q60790 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117551
AA Change: F48S
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000112998
Gene: ENSMUSG00000031453
AA Change: F48S
| 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 |
probably benign
Transcript: ENSMUST00000154454
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
A |
G |
10: 20,841,580 (GRCm39) |
E289G |
probably benign |
Het |
| Armc2 |
C |
T |
10: 41,887,954 (GRCm39) |
E10K |
possibly damaging |
Het |
| Aspscr1 |
T |
C |
11: 120,569,348 (GRCm39) |
|
probably null |
Het |
| B3galnt1 |
A |
G |
3: 69,482,548 (GRCm39) |
C238R |
probably damaging |
Het |
| Bak1 |
A |
G |
17: 27,240,280 (GRCm39) |
L129P |
probably damaging |
Het |
| Bdp1 |
A |
G |
13: 100,195,404 (GRCm39) |
F1272L |
possibly damaging |
Het |
| C2cd3 |
G |
A |
7: 100,109,096 (GRCm39) |
|
probably null |
Het |
| Cacna1b |
A |
T |
2: 24,540,638 (GRCm39) |
V1363E |
probably damaging |
Het |
| Capn11 |
T |
C |
17: 45,950,132 (GRCm39) |
N344S |
probably damaging |
Het |
| Ces1f |
A |
T |
8: 93,989,623 (GRCm39) |
V431E |
possibly damaging |
Het |
| Cog3 |
G |
T |
14: 75,984,533 (GRCm39) |
S94Y |
possibly damaging |
Het |
| Defa29 |
A |
T |
8: 21,816,859 (GRCm39) |
S45T |
probably benign |
Het |
| Dnaaf9 |
C |
A |
2: 130,579,372 (GRCm39) |
V753L |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,802,322 (GRCm39) |
D32G |
probably benign |
Het |
| Dnajc24 |
T |
A |
2: 105,811,365 (GRCm39) |
N70I |
probably damaging |
Het |
| Duox2 |
C |
T |
2: 122,113,948 (GRCm39) |
V1195I |
probably benign |
Het |
| Enam |
A |
T |
5: 88,651,561 (GRCm39) |
R1023S |
probably benign |
Het |
| Ephx4 |
A |
T |
5: 107,567,699 (GRCm39) |
Q219L |
probably damaging |
Het |
| Eppk1 |
T |
C |
15: 75,993,204 (GRCm39) |
T1226A |
probably benign |
Het |
| Eppk1 |
T |
C |
15: 75,993,335 (GRCm39) |
Q1182R |
probably benign |
Het |
| Fiz1 |
A |
T |
7: 5,011,997 (GRCm39) |
S174T |
probably benign |
Het |
| Ggnbp1 |
C |
T |
17: 27,248,619 (GRCm39) |
R63C |
probably benign |
Het |
| Gmcl1 |
G |
T |
6: 86,698,408 (GRCm39) |
A163E |
probably damaging |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Gsdmd |
T |
A |
15: 75,735,295 (GRCm39) |
I13N |
probably damaging |
Het |
| Gtpbp4 |
T |
C |
13: 9,037,322 (GRCm39) |
D292G |
probably damaging |
Het |
| Hnf1a |
A |
T |
5: 115,098,233 (GRCm39) |
L123* |
probably null |
Het |
| Ints11 |
A |
G |
4: 155,971,413 (GRCm39) |
D309G |
probably benign |
Het |
| Ints5 |
T |
C |
19: 8,874,407 (GRCm39) |
S789P |
probably benign |
Het |
| Jakmip2 |
G |
A |
18: 43,696,398 (GRCm39) |
A517V |
probably benign |
Het |
| Kat7 |
A |
G |
11: 95,174,935 (GRCm39) |
Y270H |
probably damaging |
Het |
| Kmt2b |
A |
G |
7: 30,276,199 (GRCm39) |
S1767P |
probably damaging |
Het |
| Lonp2 |
A |
G |
8: 87,361,537 (GRCm39) |
D238G |
probably benign |
Het |
| Lrfn3 |
A |
G |
7: 30,059,449 (GRCm39) |
W259R |
probably damaging |
Het |
| Mmrn2 |
G |
A |
14: 34,119,879 (GRCm39) |
D250N |
probably benign |
Het |
| Mre11a |
A |
T |
9: 14,710,965 (GRCm39) |
R49* |
probably null |
Het |
| Mug1 |
T |
C |
6: 121,857,855 (GRCm39) |
L1116P |
possibly damaging |
Het |
| Mup9 |
A |
G |
4: 60,374,202 (GRCm39) |
S234P |
probably benign |
Het |
| Nlrp9c |
A |
G |
7: 26,084,914 (GRCm39) |
F222L |
possibly damaging |
Het |
| Nr2e3 |
A |
G |
9: 59,856,282 (GRCm39) |
V85A |
probably damaging |
Het |
| Or4a79 |
A |
G |
2: 89,552,344 (GRCm39) |
I37T |
probably benign |
Het |
| Prl3d2 |
A |
G |
13: 27,307,949 (GRCm39) |
T77A |
probably benign |
Het |
| Prpsap1 |
A |
T |
11: 116,381,042 (GRCm39) |
M1K |
probably null |
Het |
| Prrc2b |
C |
T |
2: 32,084,426 (GRCm39) |
T297M |
probably damaging |
Het |
| Rbm24 |
A |
T |
13: 46,572,507 (GRCm39) |
M1L |
possibly damaging |
Het |
| Ren1 |
C |
A |
1: 133,282,604 (GRCm39) |
T103K |
probably damaging |
Het |
| Rpf2 |
C |
T |
10: 40,099,880 (GRCm39) |
G260S |
probably damaging |
Het |
| Sall4 |
C |
T |
2: 168,594,561 (GRCm39) |
G862D |
probably damaging |
Het |
| Samd4 |
G |
T |
14: 47,301,704 (GRCm39) |
R336L |
probably damaging |
Het |
| Shoc1 |
G |
C |
4: 59,094,162 (GRCm39) |
F187L |
probably benign |
Het |
| Siglec1 |
T |
C |
2: 130,913,083 (GRCm39) |
N1611S |
probably benign |
Het |
| Skil |
A |
G |
3: 31,151,751 (GRCm39) |
H91R |
possibly damaging |
Het |
| Snip1 |
T |
C |
4: 124,965,174 (GRCm39) |
V193A |
probably benign |
Het |
| Sp2 |
A |
T |
11: 96,852,663 (GRCm39) |
I87N |
probably damaging |
Het |
| Syna |
T |
C |
5: 134,588,046 (GRCm39) |
H301R |
probably benign |
Het |
| Tdg |
A |
G |
10: 82,477,216 (GRCm39) |
K89R |
possibly damaging |
Het |
| Tdrd7 |
G |
A |
4: 46,010,902 (GRCm39) |
|
probably null |
Het |
| Trak1 |
G |
A |
9: 121,289,491 (GRCm39) |
R601H |
probably damaging |
Het |
| Triobp |
T |
C |
15: 78,844,144 (GRCm39) |
L120P |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,606,250 (GRCm39) |
N1697K |
probably benign |
Het |
| Uts2r |
G |
A |
11: 121,051,495 (GRCm39) |
V120M |
possibly damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,696,256 (GRCm39) |
L162P |
probably damaging |
Het |
| Zbtb17 |
G |
A |
4: 141,189,134 (GRCm39) |
R18Q |
probably damaging |
Het |
| Zfp551 |
A |
T |
7: 12,151,138 (GRCm39) |
C90* |
probably null |
Het |
| Zfp605 |
T |
A |
5: 110,276,300 (GRCm39) |
C473S |
probably damaging |
Het |
| Zfp764l1 |
T |
A |
7: 126,991,600 (GRCm39) |
S117C |
probably damaging |
Het |
| Zfp975 |
A |
T |
7: 42,312,356 (GRCm39) |
Y86N |
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 |
|
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 |
|
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'- ACTATAGCCCGAATCCAGTGG -3'
(R):5'- AGGTCTGCTTGTGAAGTGAC -3'
Sequencing Primer
(F):5'- GAATCCAGTGGGTACTTCTTCACATG -3'
(R):5'- GGTAGCTTGACGATATATGTGACTAC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation