Incidental Mutation 'IGL02515:Rgl3'
ID |
296721 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rgl3
|
Ensembl Gene |
ENSMUSG00000040146 |
Gene Name |
ral guanine nucleotide dissociation stimulator-like 3 |
Synonyms |
1300003D20Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02515
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
21882475-21900765 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 21885396 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 645
(R645G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148965
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045726]
[ENSMUST00000214026]
[ENSMUST00000215851]
|
AlphaFold |
Q3UYI5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045726
AA Change: R645G
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000035726 Gene: ENSMUSG00000040146 AA Change: R645G
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
39 |
N/A |
INTRINSIC |
RasGEFN
|
63 |
201 |
1.35e-6 |
SMART |
RasGEF
|
244 |
504 |
2.74e-84 |
SMART |
low complexity region
|
533 |
579 |
N/A |
INTRINSIC |
RA
|
609 |
699 |
3.36e-15 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213130
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213558
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214026
AA Change: R645G
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214089
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214713
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215851
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
A |
G |
11: 84,153,229 (GRCm39) |
D879G |
probably benign |
Het |
Atp6v0d2 |
A |
T |
4: 19,880,063 (GRCm39) |
F278Y |
possibly damaging |
Het |
Cip2a |
A |
G |
16: 48,826,096 (GRCm39) |
T388A |
possibly damaging |
Het |
Dapk3 |
T |
C |
10: 81,025,763 (GRCm39) |
|
probably benign |
Het |
Dpysl4 |
A |
T |
7: 138,676,651 (GRCm39) |
D367V |
probably damaging |
Het |
E330034G19Rik |
T |
A |
14: 24,348,052 (GRCm39) |
D101E |
possibly damaging |
Het |
Epb41l1 |
G |
A |
2: 156,378,933 (GRCm39) |
E811K |
probably damaging |
Het |
Fsd1 |
T |
A |
17: 56,303,303 (GRCm39) |
V424E |
probably null |
Het |
Ggt5 |
G |
A |
10: 75,425,604 (GRCm39) |
V21I |
probably benign |
Het |
Gm5239 |
A |
G |
18: 35,669,787 (GRCm39) |
E51G |
probably damaging |
Het |
Gpr156 |
A |
G |
16: 37,826,041 (GRCm39) |
S753G |
probably damaging |
Het |
Grid1 |
A |
T |
14: 35,174,302 (GRCm39) |
Y648F |
probably damaging |
Het |
Hmgcr |
T |
C |
13: 96,803,020 (GRCm39) |
|
probably benign |
Het |
Insc |
A |
G |
7: 114,368,243 (GRCm39) |
D11G |
probably damaging |
Het |
Mmp9 |
A |
G |
2: 164,790,876 (GRCm39) |
D88G |
probably damaging |
Het |
Mtmr10 |
C |
T |
7: 63,987,259 (GRCm39) |
R600W |
probably damaging |
Het |
Nlrc3 |
C |
A |
16: 3,767,323 (GRCm39) |
|
probably benign |
Het |
Or5b116 |
T |
A |
19: 13,422,472 (GRCm39) |
I32N |
probably damaging |
Het |
Or8g51 |
T |
C |
9: 38,609,087 (GRCm39) |
T196A |
probably benign |
Het |
Pdcd11 |
A |
T |
19: 47,113,516 (GRCm39) |
D1323V |
probably damaging |
Het |
Rnf2 |
A |
T |
1: 151,347,446 (GRCm39) |
D137E |
probably benign |
Het |
Smchd1 |
T |
C |
17: 71,747,952 (GRCm39) |
H430R |
probably damaging |
Het |
Sptb |
A |
G |
12: 76,653,261 (GRCm39) |
V1534A |
possibly damaging |
Het |
Stip1 |
T |
C |
19: 6,999,487 (GRCm39) |
T432A |
probably benign |
Het |
Tnfsf14 |
T |
C |
17: 57,499,600 (GRCm39) |
D84G |
probably benign |
Het |
Ube2o |
A |
G |
11: 116,434,525 (GRCm39) |
V601A |
probably damaging |
Het |
Vmn1r215 |
T |
C |
13: 23,259,990 (GRCm39) |
I10T |
probably benign |
Het |
Vtn |
A |
T |
11: 78,392,480 (GRCm39) |
I353F |
probably damaging |
Het |
|
Other mutations in Rgl3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00706:Rgl3
|
APN |
9 |
21,888,535 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00770:Rgl3
|
APN |
9 |
21,899,018 (GRCm39) |
splice site |
probably benign |
|
IGL00774:Rgl3
|
APN |
9 |
21,899,018 (GRCm39) |
splice site |
probably benign |
|
IGL02071:Rgl3
|
APN |
9 |
21,899,559 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02172:Rgl3
|
APN |
9 |
21,888,134 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02190:Rgl3
|
APN |
9 |
21,893,004 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02277:Rgl3
|
APN |
9 |
21,885,405 (GRCm39) |
missense |
probably damaging |
1.00 |
R0077:Rgl3
|
UTSW |
9 |
21,885,398 (GRCm39) |
missense |
probably benign |
0.00 |
R0126:Rgl3
|
UTSW |
9 |
21,887,108 (GRCm39) |
missense |
probably benign |
0.06 |
R0360:Rgl3
|
UTSW |
9 |
21,888,153 (GRCm39) |
missense |
probably damaging |
0.97 |
R0421:Rgl3
|
UTSW |
9 |
21,887,328 (GRCm39) |
missense |
probably benign |
0.06 |
R0556:Rgl3
|
UTSW |
9 |
21,887,140 (GRCm39) |
nonsense |
probably null |
|
R0751:Rgl3
|
UTSW |
9 |
21,888,676 (GRCm39) |
critical splice donor site |
probably null |
|
R1184:Rgl3
|
UTSW |
9 |
21,888,676 (GRCm39) |
critical splice donor site |
probably null |
|
R1548:Rgl3
|
UTSW |
9 |
21,892,002 (GRCm39) |
missense |
probably benign |
0.11 |
R2176:Rgl3
|
UTSW |
9 |
21,887,254 (GRCm39) |
utr 3 prime |
probably benign |
|
R3154:Rgl3
|
UTSW |
9 |
21,892,070 (GRCm39) |
missense |
probably damaging |
1.00 |
R3607:Rgl3
|
UTSW |
9 |
21,898,987 (GRCm39) |
missense |
probably damaging |
0.98 |
R3803:Rgl3
|
UTSW |
9 |
21,887,321 (GRCm39) |
missense |
probably damaging |
1.00 |
R3958:Rgl3
|
UTSW |
9 |
21,886,885 (GRCm39) |
intron |
probably benign |
|
R4081:Rgl3
|
UTSW |
9 |
21,898,971 (GRCm39) |
missense |
possibly damaging |
0.79 |
R4937:Rgl3
|
UTSW |
9 |
21,899,004 (GRCm39) |
nonsense |
probably null |
|
R5068:Rgl3
|
UTSW |
9 |
21,899,340 (GRCm39) |
critical splice donor site |
probably null |
|
R5070:Rgl3
|
UTSW |
9 |
21,899,340 (GRCm39) |
critical splice donor site |
probably null |
|
R5217:Rgl3
|
UTSW |
9 |
21,898,944 (GRCm39) |
makesense |
probably null |
|
R5772:Rgl3
|
UTSW |
9 |
21,892,908 (GRCm39) |
missense |
probably benign |
0.00 |
R5819:Rgl3
|
UTSW |
9 |
21,892,898 (GRCm39) |
critical splice donor site |
probably null |
|
R6509:Rgl3
|
UTSW |
9 |
21,883,204 (GRCm39) |
missense |
probably benign |
0.00 |
R7425:Rgl3
|
UTSW |
9 |
21,888,123 (GRCm39) |
nonsense |
probably null |
|
R7744:Rgl3
|
UTSW |
9 |
21,898,866 (GRCm39) |
missense |
probably benign |
0.00 |
R7883:Rgl3
|
UTSW |
9 |
21,892,723 (GRCm39) |
missense |
probably benign |
0.00 |
R8339:Rgl3
|
UTSW |
9 |
21,898,825 (GRCm39) |
missense |
probably benign |
|
R8383:Rgl3
|
UTSW |
9 |
21,888,529 (GRCm39) |
missense |
probably damaging |
1.00 |
R8546:Rgl3
|
UTSW |
9 |
21,899,156 (GRCm39) |
missense |
probably benign |
0.06 |
R8554:Rgl3
|
UTSW |
9 |
21,900,159 (GRCm39) |
missense |
probably benign |
|
R9189:Rgl3
|
UTSW |
9 |
21,885,356 (GRCm39) |
missense |
possibly damaging |
0.65 |
R9380:Rgl3
|
UTSW |
9 |
21,888,123 (GRCm39) |
missense |
probably damaging |
0.99 |
X0019:Rgl3
|
UTSW |
9 |
21,892,775 (GRCm39) |
missense |
probably benign |
|
Z1176:Rgl3
|
UTSW |
9 |
21,892,699 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Posted On |
2015-04-16 |