Incidental Mutation 'IGL02277:Rgl3'
| ID |
287365 |
| 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 # |
IGL02277
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
21882475-21900765 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 21885405 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 642
(V642M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148965
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045726]
[ENSMUST00000214026]
[ENSMUST00000215851]
|
| AlphaFold |
Q3UYI5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045726
AA Change: V642M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035726
Gene: ENSMUSG00000040146
AA Change: V642M
| 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 |
probably damaging
Transcript: ENSMUST00000214026
AA Change: V642M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
C |
T |
9: 57,165,708 (GRCm39) |
G222D |
probably benign |
Het |
| Abcc6 |
T |
C |
7: 45,650,485 (GRCm39) |
D625G |
probably benign |
Het |
| Akr1c12 |
C |
T |
13: 4,322,268 (GRCm39) |
R258Q |
probably damaging |
Het |
| Akr1c20 |
T |
A |
13: 4,564,404 (GRCm39) |
E36D |
probably benign |
Het |
| Csn2 |
A |
G |
5: 87,845,881 (GRCm39) |
|
probably benign |
Het |
| Dennd5a |
T |
C |
7: 109,497,176 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Dlg1 |
A |
G |
16: 31,609,082 (GRCm39) |
I259V |
probably damaging |
Het |
| Dpysl5 |
A |
G |
5: 30,946,125 (GRCm39) |
I344V |
probably damaging |
Het |
| Fcrl6 |
A |
G |
1: 172,426,686 (GRCm39) |
C87R |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,735,977 (GRCm39) |
E524G |
probably benign |
Het |
| Gabpb2 |
A |
G |
3: 95,096,595 (GRCm39) |
V270A |
probably benign |
Het |
| Gm5591 |
T |
A |
7: 38,218,462 (GRCm39) |
I804F |
possibly damaging |
Het |
| Gm5591 |
T |
C |
7: 38,219,856 (GRCm39) |
D339G |
probably damaging |
Het |
| Ighv2-5 |
T |
A |
12: 113,649,127 (GRCm39) |
T109S |
possibly damaging |
Het |
| Ints4 |
T |
A |
7: 97,136,665 (GRCm39) |
L119Q |
probably damaging |
Het |
| Kansl3 |
A |
T |
1: 36,388,028 (GRCm39) |
D386E |
possibly damaging |
Het |
| Kdm3b |
A |
T |
18: 34,956,717 (GRCm39) |
H1224L |
probably damaging |
Het |
| Macf1 |
C |
A |
4: 123,380,497 (GRCm39) |
R1523L |
probably damaging |
Het |
| Myo1f |
A |
G |
17: 33,798,835 (GRCm39) |
|
probably null |
Het |
| Nup188 |
A |
G |
2: 30,216,523 (GRCm39) |
T776A |
possibly damaging |
Het |
| Or1q1 |
G |
A |
2: 36,887,196 (GRCm39) |
|
probably null |
Het |
| Or2y8 |
T |
A |
11: 52,036,189 (GRCm39) |
H56L |
probably damaging |
Het |
| Or4f56 |
T |
A |
2: 111,703,925 (GRCm39) |
I92F |
possibly damaging |
Het |
| Plxnb1 |
T |
A |
9: 108,941,201 (GRCm39) |
L1660Q |
probably damaging |
Het |
| Ppp1r17 |
A |
G |
6: 56,003,123 (GRCm39) |
D71G |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,389,301 (GRCm39) |
Q1264R |
probably damaging |
Het |
| Slc26a2 |
T |
C |
18: 61,332,052 (GRCm39) |
T460A |
probably damaging |
Het |
| Smtnl2 |
T |
A |
11: 72,282,199 (GRCm39) |
M395L |
probably damaging |
Het |
| St3gal5 |
A |
T |
6: 72,119,184 (GRCm39) |
T99S |
possibly damaging |
Het |
| Unc5b |
T |
C |
10: 60,610,521 (GRCm39) |
N421S |
probably benign |
Het |
| Zcchc17 |
G |
A |
4: 130,221,014 (GRCm39) |
T179M |
probably benign |
Het |
| Zfp369 |
T |
C |
13: 65,432,746 (GRCm39) |
S79P |
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 |
|
IGL02515:Rgl3
|
APN |
9 |
21,885,396 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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 |
Incidental Mutation