Incidental Mutation 'R6509:Rgl3'
| ID |
519867 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgl3
|
| Ensembl Gene |
ENSMUSG00000040146 |
| Gene Name |
ral guanine nucleotide dissociation stimulator-like 3 |
| Synonyms |
1300003D20Rik |
| MMRRC Submission |
044422-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6509 (G1)
|
| Quality Score |
221.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
21882475-21900765 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21883204 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 705
(S705P)
|
| 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: S705P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000035726
Gene: ENSMUSG00000040146
AA Change: S705P
| 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 benign
Transcript: ENSMUST00000214026
AA Change: S705P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214089
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214713
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215851
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.7%
- 20x: 92.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
G |
A |
5: 109,885,250 (GRCm39) |
R203* |
probably null |
Het |
| Ccnc |
A |
G |
4: 21,740,642 (GRCm39) |
N133D |
probably benign |
Het |
| Cfap299 |
C |
T |
5: 98,477,256 (GRCm39) |
T15I |
probably benign |
Het |
| Lbhd2 |
A |
G |
12: 111,376,747 (GRCm39) |
R65G |
possibly damaging |
Het |
| Lrrc37a |
A |
G |
11: 103,395,240 (GRCm39) |
S62P |
probably benign |
Het |
| Map3k1 |
T |
A |
13: 111,890,363 (GRCm39) |
M1279L |
possibly damaging |
Het |
| Ncapg2 |
G |
A |
12: 116,391,376 (GRCm39) |
R475Q |
probably damaging |
Het |
| Nlrp5 |
A |
T |
7: 23,117,341 (GRCm39) |
N355I |
probably damaging |
Het |
| Or7g29 |
A |
G |
9: 19,286,439 (GRCm39) |
V246A |
probably benign |
Het |
| Pdzd8 |
A |
G |
19: 59,333,298 (GRCm39) |
F241S |
probably benign |
Het |
| Rsbn1 |
A |
G |
3: 103,867,348 (GRCm39) |
Y563C |
probably damaging |
Het |
| Septin9 |
A |
G |
11: 117,181,253 (GRCm39) |
I18V |
probably benign |
Het |
| Sycp2 |
G |
A |
2: 178,037,687 (GRCm39) |
P153S |
probably damaging |
Het |
| Tbc1d4 |
C |
A |
14: 101,845,754 (GRCm39) |
R48L |
possibly damaging |
Het |
| Vmn1r195 |
G |
A |
13: 22,463,279 (GRCm39) |
G250R |
probably benign |
Het |
| Vmn2r66 |
G |
T |
7: 84,656,054 (GRCm39) |
P321T |
probably benign |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCAATGGCCTAATGCTGG -3'
(R):5'- ACTGTCACAGCCCGAGTTTG -3'
Sequencing Primer
(F):5'- CAATGGCCTAATGCTGGGGATC -3'
(R):5'- AGTTTGCCCGAGAAGCG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation