Incidental Mutation 'R4772:Rasa3'
| ID |
430211 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4772 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
13617218-13727590 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 13648289 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 125
(G125D)
|
| 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: G125D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112998
Gene: ENSMUSG00000031453
AA Change: G125D
| 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 |
noncoding transcript
Transcript: ENSMUST00000132637
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154454
|
| Meta Mutation Damage Score |
0.8201 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
| Validation Efficiency |
95% (74/78) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,265,339 (GRCm39) |
|
probably null |
Het |
| Adamts19 |
A |
G |
18: 58,970,848 (GRCm39) |
Q144R |
possibly damaging |
Het |
| Adgrb3 |
C |
A |
1: 25,570,956 (GRCm39) |
C507F |
probably damaging |
Het |
| Atg9b |
T |
C |
5: 24,590,237 (GRCm39) |
*923W |
probably null |
Het |
| Atp13a4 |
T |
C |
16: 29,239,653 (GRCm39) |
|
probably benign |
Het |
| Baz2b |
G |
T |
2: 59,788,795 (GRCm39) |
R697S |
probably damaging |
Het |
| Bicdl1 |
A |
G |
5: 115,799,537 (GRCm39) |
I184T |
probably benign |
Het |
| Bpifb4 |
C |
T |
2: 153,784,903 (GRCm39) |
L204F |
possibly damaging |
Het |
| Cep120 |
C |
T |
18: 53,851,561 (GRCm39) |
R577Q |
probably damaging |
Het |
| Cplx4 |
T |
C |
18: 66,103,048 (GRCm39) |
E24G |
possibly damaging |
Het |
| Dcxr |
T |
C |
11: 120,616,923 (GRCm39) |
T147A |
probably benign |
Het |
| Dnajc10 |
C |
A |
2: 80,170,870 (GRCm39) |
H454N |
probably damaging |
Het |
| Dsp |
G |
T |
13: 38,351,504 (GRCm39) |
G108* |
probably null |
Het |
| Entpd6 |
T |
A |
2: 150,609,014 (GRCm39) |
I366K |
probably damaging |
Het |
| Fam111a |
A |
G |
19: 12,565,057 (GRCm39) |
K269E |
probably benign |
Het |
| Grid2ip |
T |
G |
5: 143,361,455 (GRCm39) |
V222G |
possibly damaging |
Het |
| Hmcn2 |
T |
G |
2: 31,335,326 (GRCm39) |
V4421G |
probably benign |
Het |
| Ifi207 |
T |
C |
1: 173,555,253 (GRCm39) |
T817A |
probably damaging |
Het |
| Irak2 |
A |
T |
6: 113,670,683 (GRCm39) |
E533V |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,464,523 (GRCm39) |
S1297G |
probably damaging |
Het |
| Kbtbd6 |
T |
C |
14: 79,689,596 (GRCm39) |
F97S |
probably damaging |
Het |
| Kctd14 |
A |
T |
7: 97,106,883 (GRCm39) |
E99V |
probably damaging |
Het |
| Klhl10 |
A |
T |
11: 100,338,557 (GRCm39) |
Y432F |
probably benign |
Het |
| Lrrc49 |
T |
C |
9: 60,592,335 (GRCm39) |
N53S |
possibly damaging |
Het |
| Mief2 |
T |
A |
11: 60,621,288 (GRCm39) |
|
probably benign |
Het |
| Mog |
A |
T |
17: 37,334,049 (GRCm39) |
S15T |
unknown |
Het |
| Mpi |
T |
C |
9: 57,452,181 (GRCm39) |
D365G |
probably damaging |
Het |
| Mpp7 |
A |
G |
18: 7,379,983 (GRCm39) |
|
probably null |
Het |
| Nes |
A |
G |
3: 87,883,486 (GRCm39) |
T582A |
probably benign |
Het |
| Nlrp14 |
A |
G |
7: 106,780,393 (GRCm39) |
D5G |
probably benign |
Het |
| Nr1i3 |
C |
T |
1: 171,044,719 (GRCm39) |
T218I |
probably damaging |
Het |
| Nup43 |
C |
T |
10: 7,554,433 (GRCm39) |
R339* |
probably null |
Het |
| Nup58 |
T |
A |
14: 60,457,471 (GRCm39) |
R577S |
probably benign |
Het |
| Olfr908 |
C |
T |
9: 38,427,897 (GRCm39) |
|
probably benign |
Het |
| Or4l15 |
AAATTTGAA |
AAA |
14: 50,198,452 (GRCm39) |
|
probably benign |
Het |
| Or52n4b |
T |
A |
7: 108,144,092 (GRCm39) |
M120K |
probably damaging |
Het |
| Or5d35 |
T |
A |
2: 87,855,207 (GRCm39) |
I47K |
probably damaging |
Het |
| Or6c38 |
A |
T |
10: 128,929,537 (GRCm39) |
V102D |
possibly damaging |
Het |
| Or9g20 |
G |
A |
2: 85,630,338 (GRCm39) |
S92F |
probably damaging |
Het |
| Orc1 |
T |
C |
4: 108,436,765 (GRCm39) |
|
probably benign |
Het |
| Pax6 |
C |
A |
2: 105,526,847 (GRCm39) |
P251Q |
probably benign |
Het |
| Phactr3 |
C |
T |
2: 177,925,729 (GRCm39) |
R330W |
probably damaging |
Het |
| Phldb1 |
G |
A |
9: 44,622,324 (GRCm39) |
R81W |
probably damaging |
Het |
| Pip5k1c |
C |
T |
10: 81,151,774 (GRCm39) |
P656L |
probably benign |
Het |
| Pkn3 |
T |
G |
2: 29,974,692 (GRCm39) |
|
probably null |
Het |
| Plcb2 |
T |
A |
2: 118,543,615 (GRCm39) |
H752L |
probably benign |
Het |
| Plch1 |
G |
A |
3: 63,660,746 (GRCm39) |
T291M |
probably damaging |
Het |
| Plekhg1 |
A |
T |
10: 3,823,127 (GRCm39) |
M32L |
probably benign |
Het |
| Plekhg1 |
A |
T |
10: 3,823,130 (GRCm39) |
T33S |
probably damaging |
Het |
| Plk4 |
A |
G |
3: 40,759,625 (GRCm39) |
T174A |
probably damaging |
Het |
| Ppip5k2 |
C |
A |
1: 97,648,792 (GRCm39) |
|
probably benign |
Het |
| Prl2a1 |
G |
A |
13: 27,988,961 (GRCm39) |
V29M |
probably benign |
Het |
| R3hcc1l |
T |
C |
19: 42,571,996 (GRCm39) |
|
probably benign |
Het |
| Sema3f |
A |
T |
9: 107,566,919 (GRCm39) |
Y136* |
probably null |
Het |
| Slc13a5 |
T |
A |
11: 72,141,672 (GRCm39) |
|
probably null |
Het |
| Slc16a1 |
T |
C |
3: 104,560,880 (GRCm39) |
V395A |
possibly damaging |
Het |
| Sparcl1 |
C |
T |
5: 104,236,356 (GRCm39) |
A466T |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,069,690 (GRCm39) |
|
probably benign |
Het |
| Styxl1 |
G |
A |
5: 135,797,755 (GRCm39) |
R50* |
probably null |
Het |
| Tex264 |
T |
A |
9: 106,550,901 (GRCm39) |
I99F |
possibly damaging |
Het |
| Tgtp2 |
T |
C |
11: 48,949,811 (GRCm39) |
T254A |
probably damaging |
Het |
| Tmem245 |
A |
C |
4: 56,937,989 (GRCm39) |
|
probably null |
Het |
| Tnik |
A |
T |
3: 28,661,359 (GRCm39) |
T587S |
probably benign |
Het |
| Tpr |
T |
G |
1: 150,288,864 (GRCm39) |
S648A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,596,313 (GRCm39) |
E18454G |
probably damaging |
Het |
| Utp20 |
A |
C |
10: 88,645,797 (GRCm39) |
H527Q |
probably benign |
Het |
| Vmn1r1 |
A |
T |
1: 181,985,111 (GRCm39) |
S185T |
probably benign |
Het |
| Vps54 |
C |
T |
11: 21,262,952 (GRCm39) |
H680Y |
probably damaging |
Het |
| Vwa5b2 |
A |
G |
16: 20,419,553 (GRCm39) |
|
probably null |
Het |
| Wscd1 |
T |
C |
11: 71,662,802 (GRCm39) |
|
probably null |
Het |
| Zbtb41 |
C |
T |
1: 139,375,152 (GRCm39) |
P871S |
probably damaging |
Het |
| Zcchc4 |
T |
C |
5: 52,953,549 (GRCm39) |
L186P |
possibly damaging |
Het |
| Zdhhc13 |
A |
G |
7: 48,449,621 (GRCm39) |
Y73C |
probably benign |
Het |
| Zfp12 |
A |
G |
5: 143,225,755 (GRCm39) |
E21G |
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 |
|
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 |
|
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'- TTCTAGCTCTGGAAAGCAGGG -3'
(R):5'- CATGTCTGCGTGTCCACATG -3'
Sequencing Primer
(F):5'- TACGATTGAGTAAGTCAGGCTACC -3'
(R):5'- ACTTGAAGGGCCACAGAT -3'
|
| Posted On |
2016-09-16 |
Incidental Mutation