Incidental Mutation 'R4807:Rasa3'
| ID |
370758 |
| 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 |
042426-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4807 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
13617218-13727590 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13664633 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 60
(F60L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112998
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117551]
[ENSMUST00000154454]
|
| AlphaFold |
Q60790 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117551
AA Change: F60L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112998
Gene: ENSMUSG00000031453
AA Change: F60L
| 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 |
0.2409 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
98% (86/88) |
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
C |
T |
7: 120,139,832 (GRCm39) |
A1499V |
probably damaging |
Het |
| Agap3 |
T |
A |
5: 24,682,114 (GRCm39) |
D386E |
probably damaging |
Het |
| Ahdc1 |
C |
A |
4: 132,791,624 (GRCm39) |
T955K |
possibly damaging |
Het |
| Ankrd9 |
A |
G |
12: 110,943,669 (GRCm39) |
Y122H |
probably benign |
Het |
| Apc2 |
G |
T |
10: 80,150,196 (GRCm39) |
R1721L |
probably benign |
Het |
| Arfgef3 |
A |
G |
10: 18,522,385 (GRCm39) |
V547A |
probably benign |
Het |
| Arhgap42 |
T |
C |
9: 9,046,629 (GRCm39) |
N203D |
possibly damaging |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Aspm |
T |
A |
1: 139,405,657 (GRCm39) |
F1515I |
probably damaging |
Het |
| Baz1a |
T |
C |
12: 54,945,267 (GRCm39) |
T1363A |
probably benign |
Het |
| Cacng3 |
C |
T |
7: 122,353,732 (GRCm39) |
A72V |
probably benign |
Het |
| Casp8ap2 |
T |
C |
4: 32,644,505 (GRCm39) |
C1193R |
possibly damaging |
Het |
| Ccr3 |
A |
G |
9: 123,829,334 (GRCm39) |
Y223C |
probably damaging |
Het |
| Clcn3 |
C |
A |
8: 61,387,564 (GRCm39) |
L201F |
probably damaging |
Het |
| Cltc |
A |
C |
11: 86,591,902 (GRCm39) |
|
probably benign |
Het |
| Cyp19a1 |
G |
T |
9: 54,083,930 (GRCm39) |
T86K |
possibly damaging |
Het |
| Ddx24 |
A |
T |
12: 103,385,720 (GRCm39) |
F248L |
probably damaging |
Het |
| Ddx60 |
G |
A |
8: 62,432,372 (GRCm39) |
V885I |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,139,422 (GRCm39) |
I1404M |
probably benign |
Het |
| Emilin2 |
A |
T |
17: 71,580,443 (GRCm39) |
V761E |
probably damaging |
Het |
| Endou |
C |
T |
15: 97,629,113 (GRCm39) |
C13Y |
probably benign |
Het |
| Ep400 |
C |
A |
5: 110,843,444 (GRCm39) |
|
probably null |
Het |
| Fbxo33 |
C |
A |
12: 59,265,998 (GRCm39) |
D90Y |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,198,705 (GRCm39) |
F2641L |
probably benign |
Het |
| Gbp2b |
A |
G |
3: 142,304,006 (GRCm39) |
I34V |
probably benign |
Het |
| Ghdc |
T |
C |
11: 100,661,051 (GRCm39) |
H38R |
probably damaging |
Het |
| Gm10722 |
T |
C |
9: 3,000,937 (GRCm39) |
C6R |
probably benign |
Het |
| Gpr63 |
A |
C |
4: 25,007,446 (GRCm39) |
M57L |
probably benign |
Het |
| Gprc5c |
A |
G |
11: 114,755,324 (GRCm39) |
S3G |
probably damaging |
Het |
| Grk4 |
A |
T |
5: 34,909,552 (GRCm39) |
M539L |
probably benign |
Het |
| Gulo |
C |
T |
14: 66,227,833 (GRCm39) |
M366I |
probably benign |
Het |
| Heatr5a |
T |
C |
12: 51,924,303 (GRCm39) |
H1970R |
probably damaging |
Het |
| Hmbox1 |
T |
C |
14: 65,062,998 (GRCm39) |
|
probably benign |
Het |
| Ighg2b |
T |
C |
12: 113,267,965 (GRCm39) |
|
probably benign |
Het |
| Il1b |
A |
T |
2: 129,212,226 (GRCm39) |
C9S |
probably benign |
Het |
| Itpkb |
A |
T |
1: 180,162,440 (GRCm39) |
|
probably benign |
Het |
| Kcnn1 |
T |
A |
8: 71,300,822 (GRCm39) |
H473L |
probably damaging |
Het |
| Kidins220 |
C |
T |
12: 25,107,284 (GRCm39) |
S1579L |
probably damaging |
Het |
| Kif1b |
A |
T |
4: 149,332,378 (GRCm39) |
|
probably benign |
Het |
| Lyg2 |
A |
T |
1: 37,950,148 (GRCm39) |
M60K |
possibly damaging |
Het |
| Mak16 |
G |
T |
8: 31,656,161 (GRCm39) |
H107Q |
probably benign |
Het |
| Mapkap1 |
G |
A |
2: 34,487,434 (GRCm39) |
|
probably null |
Het |
| Mastl |
A |
G |
2: 23,022,855 (GRCm39) |
S623P |
probably benign |
Het |
| Mccc1 |
T |
C |
3: 36,039,195 (GRCm39) |
Y46C |
probably damaging |
Het |
| Mdn1 |
T |
G |
4: 32,685,651 (GRCm39) |
|
probably null |
Het |
| Med25 |
T |
A |
7: 44,534,043 (GRCm39) |
T31S |
probably benign |
Het |
| Mprip |
G |
A |
11: 59,648,846 (GRCm39) |
G850D |
probably benign |
Het |
| Mrpl10 |
T |
C |
11: 96,932,449 (GRCm39) |
I8T |
probably benign |
Het |
| Msr1 |
T |
C |
8: 40,095,668 (GRCm39) |
|
probably benign |
Het |
| Myo3b |
T |
A |
2: 69,936,056 (GRCm39) |
I99N |
probably damaging |
Het |
| Neurod6 |
A |
T |
6: 55,655,640 (GRCm39) |
N332K |
probably damaging |
Het |
| Npc1l1 |
T |
C |
11: 6,168,723 (GRCm39) |
Y886C |
probably damaging |
Het |
| Nsmaf |
T |
C |
4: 6,398,542 (GRCm39) |
|
probably null |
Het |
| Ntn4 |
C |
T |
10: 93,480,362 (GRCm39) |
R29C |
probably damaging |
Het |
| Or5d47 |
T |
A |
2: 87,804,095 (GRCm39) |
I305L |
probably benign |
Het |
| Plppr2 |
A |
G |
9: 21,855,810 (GRCm39) |
N261S |
probably damaging |
Het |
| Prkar2a |
T |
A |
9: 108,617,584 (GRCm39) |
|
probably benign |
Het |
| Pxk |
G |
A |
14: 8,144,133 (GRCm38) |
V294M |
probably damaging |
Het |
| Rars1 |
A |
G |
11: 35,699,973 (GRCm39) |
F608L |
possibly damaging |
Het |
| Rbm47 |
C |
T |
5: 66,176,647 (GRCm39) |
A490T |
possibly damaging |
Het |
| Sardh |
T |
C |
2: 27,079,539 (GRCm39) |
I918V |
probably benign |
Het |
| Saxo5 |
A |
G |
8: 3,529,004 (GRCm39) |
K193R |
possibly damaging |
Het |
| Sdhc |
T |
C |
1: 170,963,626 (GRCm39) |
Y80C |
probably damaging |
Het |
| Selp |
T |
A |
1: 163,971,505 (GRCm39) |
M653K |
probably damaging |
Het |
| Slc6a17 |
T |
C |
3: 107,407,803 (GRCm39) |
D56G |
possibly damaging |
Het |
| Slco1b2 |
T |
C |
6: 141,615,195 (GRCm39) |
S367P |
probably damaging |
Het |
| Spry4 |
TTGAGGTCC |
T |
18: 38,723,328 (GRCm39) |
|
probably null |
Het |
| Strip2 |
T |
A |
6: 29,925,092 (GRCm39) |
Y143* |
probably null |
Het |
| Sycp2 |
T |
C |
2: 178,035,754 (GRCm39) |
|
probably benign |
Het |
| Tex30 |
C |
A |
1: 44,126,118 (GRCm39) |
V204L |
possibly damaging |
Het |
| Tln2 |
G |
T |
9: 67,239,015 (GRCm39) |
T1087K |
probably benign |
Het |
| Tmeff2 |
A |
C |
1: 51,018,546 (GRCm39) |
N176T |
probably benign |
Het |
| Togaram2 |
C |
G |
17: 72,004,918 (GRCm39) |
T324R |
probably damaging |
Het |
| Trpc3 |
C |
T |
3: 36,688,531 (GRCm39) |
R836Q |
probably benign |
Het |
| Trpm7 |
A |
C |
2: 126,673,149 (GRCm39) |
L535V |
probably benign |
Het |
| Vmn1r213 |
G |
A |
13: 23,195,775 (GRCm39) |
W119* |
probably null |
Het |
| Vps29 |
T |
G |
5: 122,500,951 (GRCm39) |
V176G |
probably damaging |
Het |
| Vsig10l |
A |
G |
7: 43,113,173 (GRCm39) |
T144A |
possibly damaging |
Het |
| Wdr11 |
T |
C |
7: 129,229,746 (GRCm39) |
Y844H |
probably benign |
Het |
| Zbp1 |
A |
T |
2: 173,053,999 (GRCm39) |
M174K |
probably damaging |
Het |
| Zfp341 |
G |
A |
2: 154,487,786 (GRCm39) |
|
probably benign |
Het |
| Zfp638 |
G |
A |
6: 83,920,040 (GRCm39) |
R546H |
probably damaging |
Het |
| Zfp820 |
A |
T |
17: 22,042,853 (GRCm39) |
M1K |
probably null |
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 |
|
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'- GAGATTTGTCATTTCTCCCAGGAC -3'
(R):5'- TCTCAGCTACAGTCAGGTCG -3'
Sequencing Primer
(F):5'- GTCATTTCTCCCAGGACGAGAC -3'
(R):5'- TACAGTCAGGTCGCTGTAACAGTC -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation