Incidental Mutation 'R6207:Rasa3'
| ID |
503201 |
| 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 |
044341-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6207 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
13617218-13727590 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13648251 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 138
(T138A)
|
| 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: T138A
PolyPhen 2
Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000112998
Gene: ENSMUSG00000031453
AA Change: T138A
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930451I11Rik |
G |
A |
7: 126,430,065 (GRCm39) |
P69S |
probably damaging |
Het |
| Abca15 |
A |
G |
7: 119,973,017 (GRCm39) |
R864G |
probably benign |
Het |
| Acbd5 |
T |
C |
2: 22,959,490 (GRCm39) |
C15R |
possibly damaging |
Het |
| Ahctf1 |
A |
T |
1: 179,604,955 (GRCm39) |
|
probably null |
Het |
| Ak3 |
T |
A |
19: 29,000,340 (GRCm39) |
K190N |
probably damaging |
Het |
| B4galnt3 |
A |
T |
6: 120,183,575 (GRCm39) |
|
probably null |
Het |
| Calcrl |
T |
C |
2: 84,163,874 (GRCm39) |
H439R |
probably benign |
Het |
| Casp7 |
T |
A |
19: 56,429,452 (GRCm39) |
D279E |
possibly damaging |
Het |
| Cckar |
A |
G |
5: 53,857,186 (GRCm39) |
V337A |
probably benign |
Het |
| Cep85l |
T |
C |
10: 53,157,651 (GRCm39) |
Y684C |
probably benign |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Homo |
| Commd7 |
T |
C |
2: 153,474,530 (GRCm39) |
N23S |
possibly damaging |
Het |
| Cpne9 |
A |
T |
6: 113,271,734 (GRCm39) |
I365F |
possibly damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dot1l |
C |
T |
10: 80,622,277 (GRCm39) |
A831V |
probably benign |
Het |
| Entrep1 |
T |
C |
19: 23,950,802 (GRCm39) |
E593G |
probably damaging |
Het |
| Epcam |
C |
A |
17: 87,947,864 (GRCm39) |
N111K |
probably damaging |
Het |
| Etnk1 |
A |
G |
6: 143,126,524 (GRCm39) |
Q123R |
probably damaging |
Het |
| Fam170a |
A |
T |
18: 50,415,017 (GRCm39) |
E221V |
probably damaging |
Het |
| Fbl |
T |
C |
7: 27,874,278 (GRCm39) |
S88P |
possibly damaging |
Het |
| Fbxo36 |
T |
A |
1: 84,874,251 (GRCm39) |
Y82* |
probably null |
Het |
| Fer1l5 |
A |
G |
1: 36,424,241 (GRCm39) |
K285R |
probably damaging |
Het |
| Foxn3 |
G |
T |
12: 99,162,569 (GRCm39) |
T444K |
probably damaging |
Het |
| Gak |
C |
T |
5: 108,772,895 (GRCm39) |
|
probably null |
Het |
| Gprc6a |
T |
C |
10: 51,502,931 (GRCm39) |
I311V |
probably benign |
Het |
| Hrg |
T |
C |
16: 22,773,288 (GRCm39) |
|
probably null |
Het |
| Htatip2 |
G |
A |
7: 49,420,567 (GRCm39) |
V138I |
probably benign |
Het |
| Ighv1-4 |
A |
T |
12: 114,451,142 (GRCm39) |
|
probably benign |
Het |
| Kcnq2 |
T |
C |
2: 180,755,026 (GRCm39) |
M174V |
possibly damaging |
Het |
| Krt39 |
G |
T |
11: 99,412,041 (GRCm39) |
P15Q |
probably damaging |
Het |
| L1td1 |
G |
A |
4: 98,625,655 (GRCm39) |
D617N |
possibly damaging |
Het |
| Lgalsl |
T |
A |
11: 20,779,382 (GRCm39) |
K88* |
probably null |
Het |
| Lims1 |
A |
T |
10: 58,230,386 (GRCm39) |
K49M |
possibly damaging |
Het |
| Man2a1 |
T |
C |
17: 65,020,600 (GRCm39) |
V792A |
probably benign |
Het |
| Mcm2 |
G |
T |
6: 88,862,844 (GRCm39) |
D749E |
probably benign |
Het |
| Mdga1 |
G |
A |
17: 30,057,491 (GRCm39) |
T775M |
probably damaging |
Het |
| Myb |
A |
G |
10: 21,021,221 (GRCm39) |
S403P |
probably benign |
Het |
| Nek6 |
T |
C |
2: 38,447,846 (GRCm39) |
S37P |
possibly damaging |
Het |
| Or10d1b |
T |
C |
9: 39,613,606 (GRCm39) |
H153R |
probably benign |
Het |
| Or14c46 |
A |
C |
7: 85,918,968 (GRCm39) |
F10V |
probably damaging |
Het |
| Or52a33 |
A |
G |
7: 103,289,209 (GRCm39) |
V46A |
probably benign |
Het |
| Or56b2j |
G |
A |
7: 104,352,818 (GRCm39) |
V15M |
probably damaging |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Prpf40a |
T |
C |
2: 53,047,927 (GRCm39) |
M197V |
probably benign |
Het |
| Prune2 |
T |
A |
19: 17,095,480 (GRCm39) |
I328N |
probably damaging |
Het |
| Psap |
T |
A |
10: 60,136,317 (GRCm39) |
C484S |
probably damaging |
Het |
| Pus1 |
T |
C |
5: 110,925,580 (GRCm39) |
D80G |
probably benign |
Het |
| Scaf1 |
G |
T |
7: 44,657,047 (GRCm39) |
|
probably benign |
Het |
| Skap1 |
T |
A |
11: 96,594,959 (GRCm39) |
Y143* |
probably null |
Het |
| Slc22a20 |
A |
G |
19: 6,035,969 (GRCm39) |
L67P |
probably damaging |
Het |
| Slc25a17 |
T |
C |
15: 81,213,265 (GRCm39) |
Y146C |
probably damaging |
Het |
| Slfn4 |
C |
T |
11: 83,079,951 (GRCm39) |
T154I |
possibly damaging |
Het |
| Snai1 |
T |
A |
2: 167,380,229 (GRCm39) |
V7D |
probably damaging |
Het |
| Snrnp200 |
T |
A |
2: 127,052,655 (GRCm39) |
M84K |
probably benign |
Het |
| Spop |
G |
T |
11: 95,362,063 (GRCm39) |
K31N |
possibly damaging |
Het |
| Surf1 |
T |
C |
2: 26,804,819 (GRCm39) |
T145A |
probably benign |
Het |
| Tbkbp1 |
T |
C |
11: 97,037,165 (GRCm39) |
E278G |
probably damaging |
Het |
| Thumpd2 |
G |
A |
17: 81,363,266 (GRCm39) |
A67V |
probably damaging |
Het |
| Timd4 |
A |
T |
11: 46,706,353 (GRCm39) |
M52L |
probably damaging |
Het |
| Trav16 |
A |
T |
14: 53,981,045 (GRCm39) |
N78I |
probably damaging |
Het |
| Tspan12 |
T |
C |
6: 21,799,907 (GRCm39) |
T147A |
probably damaging |
Het |
| Tulp1 |
A |
T |
17: 28,577,651 (GRCm39) |
|
probably benign |
Het |
| Ubqlnl |
A |
T |
7: 103,797,915 (GRCm39) |
N527K |
possibly damaging |
Het |
| Ubr4 |
G |
A |
4: 139,148,559 (GRCm39) |
C1681Y |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,665,910 (GRCm39) |
K1037E |
possibly damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r4 |
G |
A |
3: 64,313,926 (GRCm39) |
H352Y |
probably damaging |
Het |
| Vmn2r61 |
A |
T |
7: 41,909,616 (GRCm39) |
H47L |
probably benign |
Het |
| Vwa5a |
A |
G |
9: 38,633,968 (GRCm39) |
E57G |
probably damaging |
Het |
| Zfp180 |
A |
T |
7: 23,804,510 (GRCm39) |
R310* |
probably null |
Het |
| Zfp672 |
T |
C |
11: 58,208,349 (GRCm39) |
|
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 |
|
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'- TGTCTGCGTGTCCACATGTC -3'
Sequencing Primer
(F):5'- CCCTTCTCAGCTGAAGTGTGG -3'
(R):5'- ACTTGAAGGGCCACAGAT -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation