Incidental Mutation 'R6081:Diras2'
ID |
482924 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Diras2
|
Ensembl Gene |
ENSMUSG00000047842 |
Gene Name |
DIRAS family, GTP-binding RAS-like 2 |
Synonyms |
2900052J15Rik |
MMRRC Submission |
044240-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.144)
|
Stock # |
R6081 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
52658416-52685315 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 52662181 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 42
(D42G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055416
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057442]
|
AlphaFold |
Q5PR73 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000057442
AA Change: D42G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000055416 Gene: ENSMUSG00000047842 AA Change: D42G
Domain | Start | End | E-Value | Type |
RAS
|
5 |
172 |
8.31e-85 |
SMART |
low complexity region
|
181 |
195 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DIRAS2 belongs to a distinct branch of the functionally diverse Ras (see HRAS; MIM 190020) superfamily of monomeric GTPases.[supplied by OMIM, Apr 2004]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
A |
T |
5: 109,887,097 (GRCm39) |
M33K |
probably damaging |
Het |
4930556J24Rik |
T |
C |
11: 3,888,140 (GRCm39) |
Q82R |
unknown |
Het |
Adcy9 |
T |
C |
16: 4,112,545 (GRCm39) |
D714G |
probably benign |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Ahctf1 |
G |
T |
1: 179,609,237 (GRCm39) |
A639E |
probably benign |
Het |
Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
Anxa5 |
C |
T |
3: 36,519,436 (GRCm39) |
D18N |
probably damaging |
Het |
Apc |
C |
T |
18: 34,423,164 (GRCm39) |
P299L |
possibly damaging |
Het |
Btnl4 |
C |
A |
17: 34,693,210 (GRCm39) |
W68C |
probably damaging |
Het |
Cmya5 |
T |
A |
13: 93,281,021 (GRCm39) |
|
probably benign |
Het |
Cstf2t |
G |
T |
19: 31,060,523 (GRCm39) |
V20L |
probably benign |
Het |
D630045J12Rik |
A |
T |
6: 38,119,633 (GRCm39) |
V1703E |
probably damaging |
Het |
Dhx32 |
A |
G |
7: 133,323,941 (GRCm39) |
F535S |
probably damaging |
Het |
Dppa3 |
T |
A |
6: 122,606,931 (GRCm39) |
D140E |
probably damaging |
Het |
Gpr180 |
C |
T |
14: 118,391,086 (GRCm39) |
T205I |
probably benign |
Het |
Gzme |
T |
G |
14: 56,355,764 (GRCm39) |
T183P |
possibly damaging |
Het |
H2-T23 |
T |
A |
17: 36,342,707 (GRCm39) |
I144F |
possibly damaging |
Het |
Hlx |
T |
C |
1: 184,459,894 (GRCm39) |
S415G |
probably benign |
Het |
Krtap5-3 |
G |
A |
7: 141,755,223 (GRCm39) |
C20Y |
unknown |
Het |
Mcm8 |
G |
T |
2: 132,670,003 (GRCm39) |
R359L |
probably benign |
Het |
Mroh2b |
G |
C |
15: 4,973,859 (GRCm39) |
E1126Q |
probably damaging |
Het |
Nav1 |
C |
T |
1: 135,398,560 (GRCm39) |
R674H |
probably damaging |
Het |
Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
Rnaset2b |
T |
A |
17: 7,256,193 (GRCm39) |
|
probably null |
Het |
Samd12 |
T |
C |
15: 53,583,074 (GRCm39) |
K87E |
probably benign |
Het |
Sec16b |
T |
C |
1: 157,388,324 (GRCm39) |
S564P |
probably benign |
Het |
Speer4a1 |
A |
T |
5: 26,239,960 (GRCm39) |
C263* |
probably null |
Het |
Susd1 |
C |
A |
4: 59,411,359 (GRCm39) |
C158F |
possibly damaging |
Het |
Vmn2r6 |
C |
T |
3: 64,463,953 (GRCm39) |
V294M |
probably benign |
Het |
|
Other mutations in Diras2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02668:Diras2
|
APN |
13 |
52,661,806 (GRCm39) |
missense |
probably benign |
|
PIT4515001:Diras2
|
UTSW |
13 |
52,661,783 (GRCm39) |
missense |
possibly damaging |
0.56 |
R3721:Diras2
|
UTSW |
13 |
52,662,059 (GRCm39) |
missense |
probably damaging |
1.00 |
R3722:Diras2
|
UTSW |
13 |
52,662,059 (GRCm39) |
missense |
probably damaging |
1.00 |
R5175:Diras2
|
UTSW |
13 |
52,662,007 (GRCm39) |
missense |
probably damaging |
1.00 |
R5425:Diras2
|
UTSW |
13 |
52,662,083 (GRCm39) |
missense |
probably damaging |
1.00 |
R5496:Diras2
|
UTSW |
13 |
52,661,786 (GRCm39) |
missense |
probably benign |
0.02 |
R5499:Diras2
|
UTSW |
13 |
52,661,786 (GRCm39) |
missense |
probably benign |
0.02 |
R5501:Diras2
|
UTSW |
13 |
52,661,786 (GRCm39) |
missense |
probably benign |
0.02 |
R5677:Diras2
|
UTSW |
13 |
52,661,711 (GRCm39) |
missense |
possibly damaging |
0.96 |
R5949:Diras2
|
UTSW |
13 |
52,661,747 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8280:Diras2
|
UTSW |
13 |
52,661,863 (GRCm39) |
missense |
probably benign |
0.14 |
R8699:Diras2
|
UTSW |
13 |
52,662,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R8874:Diras2
|
UTSW |
13 |
52,661,737 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9448:Diras2
|
UTSW |
13 |
52,662,122 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGGGCTTGAGTTCCTCCAG -3'
(R):5'- AAAGGCAAAATCCATGCTTTGGG -3'
Sequencing Primer
(F):5'- GGGACTGCCGGCTGGTG -3'
(R):5'- GGGGGTTTCAAATTAACTCTCCCAAC -3'
|
Posted On |
2017-07-14 |