Incidental Mutation 'R1828:Rasa3'
| ID |
207021 |
| 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 |
039855-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1828 (G1)
|
| Quality Score |
221 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
13617218-13727590 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13635035 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 428
(E428G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112998
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117551]
|
| AlphaFold |
Q60790 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117551
AA Change: E428G
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000112998
Gene: ENSMUSG00000031453
AA Change: E428G
| 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: ENSMUST00000137822
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.2%
- 20x: 92.0%
|
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130008F23Rik |
T |
C |
17: 41,190,962 (GRCm39) |
T156A |
probably benign |
Het |
| 9230106D20Rik |
A |
T |
10: 19,536,065 (GRCm39) |
|
noncoding transcript |
Het |
| Abca3 |
A |
G |
17: 24,585,171 (GRCm39) |
D144G |
probably benign |
Het |
| Anxa2 |
T |
A |
9: 69,390,260 (GRCm39) |
L121Q |
probably damaging |
Het |
| Anxa7 |
A |
T |
14: 20,512,732 (GRCm39) |
I267N |
probably damaging |
Het |
| Asb14 |
A |
T |
14: 26,633,797 (GRCm39) |
D334V |
possibly damaging |
Het |
| Batf3 |
A |
G |
1: 190,830,714 (GRCm39) |
N20S |
probably benign |
Het |
| Bub1b |
A |
G |
2: 118,468,920 (GRCm39) |
H895R |
probably benign |
Het |
| C1qtnf12 |
G |
A |
4: 156,050,160 (GRCm39) |
|
probably null |
Het |
| Cars1 |
T |
C |
7: 143,130,385 (GRCm39) |
I294V |
probably damaging |
Het |
| Ccdc142 |
G |
A |
6: 83,084,462 (GRCm39) |
A527T |
probably damaging |
Het |
| Ccdc168 |
A |
T |
1: 44,096,234 (GRCm39) |
N1621K |
possibly damaging |
Het |
| Ccdc92 |
T |
C |
5: 124,913,242 (GRCm39) |
N96D |
probably benign |
Het |
| Ceacam18 |
T |
A |
7: 43,288,880 (GRCm39) |
D210E |
probably benign |
Het |
| Cenpe |
A |
G |
3: 134,952,257 (GRCm39) |
T1373A |
probably damaging |
Het |
| Cfap161 |
T |
G |
7: 83,440,932 (GRCm39) |
|
probably null |
Het |
| Cimip4 |
T |
C |
15: 78,270,588 (GRCm39) |
Y60C |
possibly damaging |
Het |
| Cldn19 |
A |
G |
4: 119,112,990 (GRCm39) |
D74G |
probably benign |
Het |
| Clec12a |
A |
G |
6: 129,330,762 (GRCm39) |
T115A |
probably damaging |
Het |
| Cox7a2l |
T |
A |
17: 83,811,397 (GRCm39) |
Q78L |
probably benign |
Het |
| Crot |
T |
C |
5: 9,019,080 (GRCm39) |
N491S |
probably benign |
Het |
| Cspg4b |
T |
A |
13: 113,505,342 (GRCm39) |
L2157Q |
probably damaging |
Het |
| Ctr9 |
A |
G |
7: 110,643,165 (GRCm39) |
|
probably null |
Het |
| Cyp4f14 |
T |
G |
17: 33,130,209 (GRCm39) |
D190A |
probably damaging |
Het |
| D630039A03Rik |
C |
T |
4: 57,910,240 (GRCm39) |
V191I |
probably benign |
Het |
| Dnah10 |
A |
T |
5: 124,838,343 (GRCm39) |
N1124I |
probably benign |
Het |
| Duox1 |
T |
A |
2: 122,177,861 (GRCm39) |
Y1548* |
probably null |
Het |
| Epdr1 |
G |
A |
13: 19,778,773 (GRCm39) |
Q6* |
probably null |
Het |
| Erbin |
A |
G |
13: 103,996,577 (GRCm39) |
|
probably null |
Het |
| Ero1a |
A |
T |
14: 45,525,217 (GRCm39) |
I436K |
probably damaging |
Het |
| Exph5 |
A |
T |
9: 53,287,941 (GRCm39) |
Q1674L |
possibly damaging |
Het |
| Fat4 |
A |
T |
3: 39,037,607 (GRCm39) |
Y3753F |
probably damaging |
Het |
| Gaa |
T |
C |
11: 119,174,098 (GRCm39) |
V763A |
probably damaging |
Het |
| Golim4 |
G |
A |
3: 75,809,745 (GRCm39) |
T216I |
probably damaging |
Het |
| Gpr83 |
G |
T |
9: 14,779,629 (GRCm39) |
C269F |
possibly damaging |
Het |
| Gtf2f2 |
A |
G |
14: 76,245,143 (GRCm39) |
|
probably null |
Het |
| Gtf3c5 |
T |
C |
2: 28,469,694 (GRCm39) |
Y70C |
probably damaging |
Het |
| Hao1 |
T |
A |
2: 134,372,584 (GRCm39) |
R141S |
probably benign |
Het |
| Hecw2 |
T |
C |
1: 53,965,182 (GRCm39) |
D548G |
probably benign |
Het |
| Hr |
G |
A |
14: 70,809,477 (GRCm39) |
|
probably null |
Het |
| Hrg |
A |
C |
16: 22,774,853 (GRCm39) |
E161A |
probably damaging |
Het |
| Hydin |
A |
T |
8: 111,237,526 (GRCm39) |
N1933I |
probably benign |
Het |
| Itpr2 |
A |
G |
6: 146,229,830 (GRCm39) |
L1255P |
probably damaging |
Het |
| Kcnma1 |
C |
A |
14: 23,380,997 (GRCm39) |
D903Y |
probably damaging |
Het |
| Kif5c |
T |
C |
2: 49,570,252 (GRCm39) |
|
probably null |
Het |
| Mgat5b |
C |
A |
11: 116,868,614 (GRCm39) |
H512Q |
probably damaging |
Het |
| Mtmr4 |
T |
C |
11: 87,502,943 (GRCm39) |
V999A |
probably benign |
Het |
| Mttp |
G |
T |
3: 137,813,041 (GRCm39) |
Q545K |
probably damaging |
Het |
| Ncstn |
CAGCTCCACGAAG |
CAG |
1: 171,899,038 (GRCm39) |
|
probably null |
Het |
| Nexn |
A |
G |
3: 151,948,405 (GRCm39) |
I386T |
probably damaging |
Het |
| Nrip3 |
A |
G |
7: 109,365,763 (GRCm39) |
S85P |
probably benign |
Het |
| Nxpe2 |
T |
C |
9: 48,237,914 (GRCm39) |
T114A |
probably damaging |
Het |
| Olr1 |
T |
C |
6: 129,465,895 (GRCm39) |
N37S |
possibly damaging |
Het |
| Or14j5 |
C |
T |
17: 38,161,966 (GRCm39) |
A161V |
probably benign |
Het |
| Or4b1d |
A |
G |
2: 89,968,931 (GRCm39) |
L184S |
probably damaging |
Het |
| Or4c105 |
A |
T |
2: 88,648,402 (GRCm39) |
I296F |
probably benign |
Het |
| Or55b3 |
A |
G |
7: 102,126,720 (GRCm39) |
L119P |
probably damaging |
Het |
| Or5p80 |
G |
T |
7: 108,229,855 (GRCm39) |
V219F |
possibly damaging |
Het |
| Pax4 |
T |
C |
6: 28,443,446 (GRCm39) |
Y290C |
probably benign |
Het |
| Pcdhb2 |
T |
A |
18: 37,429,038 (GRCm39) |
V337D |
probably damaging |
Het |
| Pglyrp4 |
T |
C |
3: 90,640,310 (GRCm39) |
Y187H |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,098,614 (GRCm39) |
M2017T |
probably benign |
Het |
| Pkdrej |
T |
C |
15: 85,703,483 (GRCm39) |
T818A |
possibly damaging |
Het |
| Pxk |
C |
T |
14: 8,151,507 (GRCm38) |
R441* |
probably null |
Het |
| Pygm |
T |
C |
19: 6,447,637 (GRCm39) |
I648T |
possibly damaging |
Het |
| Rab4a |
A |
T |
8: 124,550,565 (GRCm39) |
K15I |
probably damaging |
Het |
| Rnf182 |
G |
A |
13: 43,822,010 (GRCm39) |
W187* |
probably null |
Het |
| Rpl3 |
C |
T |
15: 79,964,591 (GRCm39) |
V222M |
possibly damaging |
Het |
| Rtl9 |
C |
T |
X: 141,886,011 (GRCm39) |
S1141F |
possibly damaging |
Het |
| S100a11 |
A |
T |
3: 93,433,428 (GRCm39) |
I91F |
probably benign |
Het |
| Sfswap |
C |
T |
5: 129,590,148 (GRCm39) |
T215I |
probably damaging |
Het |
| Slit2 |
A |
G |
5: 48,461,372 (GRCm39) |
D1456G |
probably damaging |
Het |
| Tex19.2 |
C |
T |
11: 121,008,317 (GRCm39) |
V44I |
probably benign |
Het |
| Tmem127 |
G |
A |
2: 127,098,094 (GRCm39) |
|
probably null |
Het |
| Tpd52 |
G |
T |
3: 9,012,579 (GRCm39) |
N59K |
probably damaging |
Het |
| Trpc3 |
G |
A |
3: 36,692,695 (GRCm39) |
P766S |
possibly damaging |
Het |
| Usp17la |
T |
A |
7: 104,510,331 (GRCm39) |
V312D |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,345,582 (GRCm39) |
N2608D |
possibly damaging |
Het |
| Zfp764l1 |
T |
A |
7: 126,991,081 (GRCm39) |
H302L |
probably damaging |
Het |
| Zscan25 |
C |
A |
5: 145,227,858 (GRCm39) |
H507Q |
possibly 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 |
|
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 |
|
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'- AGCTCATTCCCTAGCTCAGC -3'
(R):5'- TTTCAAACAGAAGTGCAGGTTC -3'
Sequencing Primer
(F):5'- TAGCTCAGCCCACCCCTTAG -3'
(R):5'- AGTCTACATTCACTGACGCTGGG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation