Incidental Mutation 'R5352:Rasa3'
| ID |
423842 |
| 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 |
042931-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5352 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
13617218-13727590 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 13681778 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 57
(L57R)
|
| 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: L57R
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112998
Gene: ENSMUSG00000031453
AA Change: L57R
| 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 |
0.5789 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (66/66) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630010A05Rik |
T |
G |
16: 14,436,565 (GRCm39) |
L206* |
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,642,776 (GRCm39) |
Y3218C |
probably damaging |
Het |
| Agtpbp1 |
G |
A |
13: 59,621,560 (GRCm39) |
T41M |
probably damaging |
Het |
| Akap6 |
A |
T |
12: 52,842,880 (GRCm39) |
E76V |
probably damaging |
Het |
| Ank2 |
C |
A |
3: 127,292,640 (GRCm39) |
|
probably benign |
Het |
| Atp6ap1l |
A |
C |
13: 91,031,875 (GRCm39) |
L269R |
probably damaging |
Het |
| Blk |
A |
G |
14: 63,613,420 (GRCm39) |
S363P |
probably damaging |
Het |
| Bltp3a |
G |
A |
17: 28,106,489 (GRCm39) |
S1005N |
probably benign |
Het |
| Btnl9 |
T |
C |
11: 49,069,667 (GRCm39) |
N204S |
probably benign |
Het |
| Cc2d2a |
G |
T |
5: 43,863,555 (GRCm39) |
W672C |
probably damaging |
Het |
| Ccnf |
A |
G |
17: 24,462,247 (GRCm39) |
|
probably null |
Het |
| Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
| Chst1 |
A |
G |
2: 92,443,710 (GRCm39) |
T61A |
possibly damaging |
Het |
| Col6a4 |
G |
A |
9: 105,938,743 (GRCm39) |
T1325I |
probably damaging |
Het |
| Col7a1 |
A |
C |
9: 108,790,479 (GRCm39) |
T976P |
unknown |
Het |
| Corin |
C |
T |
5: 72,462,376 (GRCm39) |
S811N |
probably benign |
Het |
| Dnal1 |
T |
C |
12: 84,183,322 (GRCm39) |
V27A |
possibly damaging |
Het |
| Dusp29 |
G |
A |
14: 21,727,091 (GRCm39) |
R186W |
probably benign |
Het |
| F830045P16Rik |
T |
A |
2: 129,314,821 (GRCm39) |
H152L |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,449,317 (GRCm39) |
S1405G |
possibly damaging |
Het |
| Foxj1 |
T |
C |
11: 116,224,905 (GRCm39) |
N154S |
possibly damaging |
Het |
| Gm12183 |
T |
C |
11: 48,642,989 (GRCm39) |
|
noncoding transcript |
Het |
| Gm27047 |
G |
A |
6: 130,607,982 (GRCm39) |
|
noncoding transcript |
Het |
| Grm5 |
A |
G |
7: 87,724,058 (GRCm39) |
I783V |
probably damaging |
Het |
| Hk1 |
A |
T |
10: 62,140,549 (GRCm39) |
S113T |
probably damaging |
Het |
| Iqca1 |
A |
T |
1: 90,057,918 (GRCm39) |
N260K |
probably benign |
Het |
| Iws1 |
A |
T |
18: 32,216,457 (GRCm39) |
K399M |
probably damaging |
Het |
| Kdm4d |
A |
G |
9: 14,375,654 (GRCm39) |
I68T |
probably damaging |
Het |
| Man2a1 |
T |
C |
17: 65,038,241 (GRCm39) |
I75T |
probably damaging |
Het |
| Med13 |
T |
A |
11: 86,192,294 (GRCm39) |
I824L |
possibly damaging |
Het |
| Meioc |
A |
T |
11: 102,566,139 (GRCm39) |
E585V |
probably benign |
Het |
| Mrgpre |
A |
C |
7: 143,334,831 (GRCm39) |
F224C |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,418,295 (GRCm39) |
F3747Y |
possibly damaging |
Het |
| Nherf2 |
C |
T |
17: 24,861,229 (GRCm39) |
R66H |
probably damaging |
Het |
| Nlrp4e |
T |
C |
7: 23,052,598 (GRCm39) |
V839A |
probably benign |
Het |
| Nup210 |
A |
T |
6: 91,046,298 (GRCm39) |
V545E |
probably damaging |
Het |
| Ola1 |
T |
C |
2: 72,929,674 (GRCm39) |
T310A |
probably damaging |
Het |
| Pdxdc1 |
T |
C |
16: 13,658,175 (GRCm39) |
N516S |
probably benign |
Het |
| Phlpp1 |
A |
G |
1: 106,100,455 (GRCm39) |
D241G |
probably benign |
Het |
| Ppp1r36 |
T |
C |
12: 76,474,857 (GRCm39) |
V85A |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,417,321 (GRCm39) |
S1264G |
probably benign |
Het |
| Rprd1b |
A |
G |
2: 157,900,656 (GRCm39) |
E247G |
probably damaging |
Het |
| Sag |
G |
T |
1: 87,740,715 (GRCm39) |
V46L |
probably benign |
Het |
| Sat2 |
A |
T |
11: 69,513,141 (GRCm39) |
I17F |
probably damaging |
Het |
| Slc39a6 |
A |
T |
18: 24,734,093 (GRCm39) |
Y199N |
probably benign |
Het |
| Snx2 |
A |
G |
18: 53,330,997 (GRCm39) |
|
probably null |
Het |
| Thbs4 |
T |
C |
13: 92,900,098 (GRCm39) |
D466G |
probably damaging |
Het |
| Tmem208 |
A |
G |
8: 106,055,063 (GRCm39) |
D91G |
probably damaging |
Het |
| Tmf1 |
A |
G |
6: 97,153,770 (GRCm39) |
L101P |
probably damaging |
Het |
| Tnni1 |
A |
G |
1: 135,733,330 (GRCm39) |
T51A |
probably benign |
Het |
| Tor3a |
T |
G |
1: 156,501,763 (GRCm39) |
E38A |
probably damaging |
Het |
| Trim31 |
T |
A |
17: 37,210,810 (GRCm39) |
D147E |
possibly damaging |
Het |
| Vmn1r48 |
G |
T |
6: 90,013,129 (GRCm39) |
A232E |
probably benign |
Het |
| Vmn1r89 |
T |
G |
7: 12,953,284 (GRCm39) |
F7V |
probably benign |
Het |
| Zfp160 |
A |
G |
17: 21,247,114 (GRCm39) |
T555A |
probably benign |
Het |
| Zfp981 |
C |
A |
4: 146,621,462 (GRCm39) |
T129K |
probably benign |
Het |
| Zfpm2 |
T |
A |
15: 40,733,938 (GRCm39) |
F106I |
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 |
|
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'- CTCATACTTCAGTGCCCTGG -3'
(R):5'- CAGGTCTGCTTGTGAAGTGAC -3'
Sequencing Primer
(F):5'- CCCTGGAGAGCAGGAACATC -3'
(R):5'- GGTAGCTTGACGATATATGTGACTAC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation