Incidental Mutation 'IGL02190:Rgl3'
| ID |
283836 |
| 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 # |
IGL02190
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
21882475-21900765 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21893004 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 227
(F227L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148965
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045726]
[ENSMUST00000214026]
[ENSMUST00000215851]
|
| AlphaFold |
Q3UYI5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045726
AA Change: F227L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000035726
Gene: ENSMUSG00000040146
AA Change: F227L
| 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 |
probably benign
Transcript: ENSMUST00000214026
AA Change: F227L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrd1 |
T |
C |
5: 129,217,788 (GRCm39) |
|
probably benign |
Het |
| Ano1 |
T |
C |
7: 144,172,620 (GRCm39) |
E521G |
probably benign |
Het |
| As3mt |
A |
T |
19: 46,708,384 (GRCm39) |
I224F |
probably benign |
Het |
| Atp5mf |
C |
A |
5: 145,120,642 (GRCm39) |
|
probably benign |
Het |
| Cacna1h |
A |
G |
17: 25,652,000 (GRCm39) |
V48A |
probably benign |
Het |
| Ctu2 |
T |
C |
8: 123,208,397 (GRCm39) |
|
probably benign |
Het |
| Ecpas |
A |
T |
4: 58,800,190 (GRCm39) |
S1838R |
probably benign |
Het |
| Efcab5 |
T |
C |
11: 77,012,140 (GRCm39) |
R841G |
probably benign |
Het |
| Erbb3 |
A |
T |
10: 128,406,879 (GRCm39) |
|
probably null |
Het |
| Fkbp15 |
G |
T |
4: 62,223,059 (GRCm39) |
P947T |
possibly damaging |
Het |
| Gabpb1 |
A |
G |
2: 126,495,469 (GRCm39) |
|
probably benign |
Het |
| Gcn1 |
G |
T |
5: 115,752,183 (GRCm39) |
V2100L |
probably damaging |
Het |
| Gemin5 |
A |
C |
11: 58,025,668 (GRCm39) |
V977G |
probably damaging |
Het |
| Gpr107 |
T |
A |
2: 31,068,332 (GRCm39) |
Y265N |
probably damaging |
Het |
| Gpx8 |
T |
C |
13: 113,179,843 (GRCm39) |
|
probably benign |
Het |
| H2-Eb2 |
A |
T |
17: 34,553,348 (GRCm39) |
N178I |
probably damaging |
Het |
| Ift172 |
C |
T |
5: 31,411,802 (GRCm39) |
V1587I |
possibly damaging |
Het |
| Lrrc45 |
A |
G |
11: 120,609,334 (GRCm39) |
T398A |
probably damaging |
Het |
| Mmrn1 |
G |
T |
6: 60,964,177 (GRCm39) |
V1059L |
probably benign |
Het |
| Morn5 |
A |
G |
2: 35,969,527 (GRCm39) |
D147G |
probably benign |
Het |
| Mphosph9 |
T |
C |
5: 124,403,488 (GRCm39) |
R847G |
possibly damaging |
Het |
| Nutm1 |
C |
T |
2: 112,079,751 (GRCm39) |
W721* |
probably null |
Het |
| Or1j18 |
T |
C |
2: 36,624,591 (GRCm39) |
L86P |
probably benign |
Het |
| Or2j6 |
T |
C |
7: 139,980,033 (GRCm39) |
|
probably benign |
Het |
| Or5w13 |
A |
G |
2: 87,523,407 (GRCm39) |
M273T |
probably benign |
Het |
| Ropn1l |
G |
T |
15: 31,443,487 (GRCm39) |
L182I |
probably benign |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Scgb1a1 |
A |
T |
19: 9,065,231 (GRCm39) |
L12Q |
probably damaging |
Het |
| Scp2 |
A |
G |
4: 107,944,325 (GRCm39) |
S237P |
probably benign |
Het |
| Skint5 |
T |
C |
4: 113,797,962 (GRCm39) |
Q207R |
possibly damaging |
Het |
| Slc16a5 |
A |
G |
11: 115,353,435 (GRCm39) |
M1V |
probably null |
Het |
| Tox2 |
G |
A |
2: 163,164,926 (GRCm39) |
R522H |
possibly damaging |
Het |
| Trip12 |
A |
T |
1: 84,743,791 (GRCm39) |
N505K |
probably damaging |
Het |
| Tuba1c |
G |
A |
15: 98,935,870 (GRCm39) |
D444N |
unknown |
Het |
| Vmn1r174 |
A |
G |
7: 23,454,252 (GRCm39) |
E306G |
unknown |
Het |
| Vmn2r111 |
A |
T |
17: 22,789,754 (GRCm39) |
F417L |
probably benign |
Het |
| Vmn2r15 |
A |
T |
5: 109,441,240 (GRCm39) |
M206K |
probably damaging |
Het |
| Vmn2r95 |
G |
T |
17: 18,672,038 (GRCm39) |
A592S |
probably benign |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
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 |
|
IGL02277:Rgl3
|
APN |
9 |
21,885,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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