Incidental Mutation 'R8339:Rgl3'
| ID |
644800 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R8339 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
21882475-21900765 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21898825 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 205
(T205A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035726
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044926]
[ENSMUST00000045726]
[ENSMUST00000115336]
[ENSMUST00000214026]
[ENSMUST00000215851]
|
| AlphaFold |
Q3UYI5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044926
|
| SMART Domains |
Protein: ENSMUSP00000041117
Gene: ENSMUSG00000039632
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
88 |
286 |
N/A |
INTRINSIC |
|
low complexity region
|
334 |
345 |
N/A |
INTRINSIC |
|
coiled coil region
|
378 |
420 |
N/A |
INTRINSIC |
|
low complexity region
|
495 |
514 |
N/A |
INTRINSIC |
|
low complexity region
|
550 |
565 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045726
AA Change: T205A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000035726
Gene: ENSMUSG00000040146
AA Change: T205A
| 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 |
probably benign
Transcript: ENSMUST00000115336
|
| SMART Domains |
Protein: ENSMUSP00000110993
Gene: ENSMUSG00000039632
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
88 |
286 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
346 |
N/A |
INTRINSIC |
|
coiled coil region
|
379 |
421 |
N/A |
INTRINSIC |
|
low complexity region
|
496 |
515 |
N/A |
INTRINSIC |
|
low complexity region
|
551 |
566 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214026
AA Change: T205A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215851
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,324,831 (GRCm39) |
F1549S |
probably damaging |
Het |
| Ablim1 |
T |
C |
19: 57,032,281 (GRCm39) |
E710G |
probably benign |
Het |
| Adam34 |
A |
T |
8: 44,103,640 (GRCm39) |
H668Q |
probably benign |
Het |
| Asphd2 |
A |
T |
5: 112,539,501 (GRCm39) |
Y111N |
possibly damaging |
Het |
| Camsap1 |
A |
G |
2: 25,872,817 (GRCm39) |
I45T |
possibly damaging |
Het |
| Ccdc88c |
A |
T |
12: 100,907,399 (GRCm39) |
L984* |
probably null |
Het |
| Ccr1 |
T |
G |
9: 123,763,763 (GRCm39) |
N256H |
probably damaging |
Het |
| Cep295 |
A |
T |
9: 15,236,846 (GRCm39) |
D254E |
|
Het |
| Cfhr4 |
T |
A |
1: 139,660,157 (GRCm39) |
E656V |
probably damaging |
Het |
| Cmya5 |
G |
T |
13: 93,228,142 (GRCm39) |
Y2315* |
probably null |
Het |
| Cspp1 |
G |
T |
1: 10,183,892 (GRCm39) |
R839I |
probably damaging |
Het |
| Dbn1 |
A |
T |
13: 55,629,982 (GRCm39) |
D153E |
probably benign |
Het |
| Dnah7a |
G |
T |
1: 53,724,178 (GRCm39) |
L96I |
probably benign |
Het |
| G6pc1 |
A |
G |
11: 101,267,314 (GRCm39) |
T255A |
possibly damaging |
Het |
| Heatr5a |
AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA |
AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA |
12: 51,934,702 (GRCm39) |
|
probably benign |
Het |
| Il12a |
T |
A |
3: 68,599,438 (GRCm39) |
C33* |
probably null |
Het |
| Iqce |
T |
C |
5: 140,660,093 (GRCm39) |
E555G |
probably damaging |
Het |
| Itpr2 |
T |
C |
6: 146,214,396 (GRCm39) |
M1484V |
probably benign |
Het |
| Klc2 |
A |
G |
19: 5,159,562 (GRCm39) |
S518P |
probably benign |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or2b7 |
A |
T |
13: 21,739,996 (GRCm39) |
N65K |
probably damaging |
Het |
| Or8b47 |
T |
C |
9: 38,435,717 (GRCm39) |
S230P |
probably damaging |
Het |
| Or9g4b |
C |
A |
2: 85,615,876 (GRCm39) |
T7N |
probably damaging |
Het |
| Otogl |
T |
A |
10: 107,625,396 (GRCm39) |
I1516F |
probably damaging |
Het |
| Otogl |
G |
T |
10: 107,625,397 (GRCm39) |
S1515R |
probably benign |
Het |
| Pacs1 |
A |
T |
19: 5,192,651 (GRCm39) |
V627E |
probably damaging |
Het |
| Ptprb |
A |
C |
10: 116,119,356 (GRCm39) |
R163S |
probably benign |
Het |
| Ralgps2 |
G |
T |
1: 156,649,008 (GRCm39) |
P432Q |
probably null |
Het |
| Rock2 |
G |
T |
12: 17,024,861 (GRCm39) |
W1213L |
probably damaging |
Het |
| Satb1 |
T |
A |
17: 52,089,977 (GRCm39) |
H290L |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,116,373 (GRCm39) |
Y422C |
probably damaging |
Het |
| Sgcg |
T |
A |
14: 61,469,966 (GRCm39) |
M132L |
probably benign |
Het |
| Shank1 |
A |
G |
7: 43,975,589 (GRCm39) |
S478G |
unknown |
Het |
| Slc18a1 |
A |
T |
8: 69,518,273 (GRCm39) |
M247K |
possibly damaging |
Het |
| Slc37a4 |
A |
G |
9: 44,313,724 (GRCm39) |
I417V |
probably benign |
Het |
| Slc9b2 |
A |
G |
3: 135,030,363 (GRCm39) |
M227V |
possibly damaging |
Het |
| Tcf20 |
C |
A |
15: 82,736,877 (GRCm39) |
V1525L |
probably benign |
Het |
| Tril |
G |
A |
6: 53,794,918 (GRCm39) |
T768I |
possibly damaging |
Het |
| Xxylt1 |
T |
C |
16: 30,899,858 (GRCm39) |
H99R |
possibly damaging |
Het |
| Zfp653 |
T |
C |
9: 21,969,213 (GRCm39) |
E351G |
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 |
|
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 |
|
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'- CTCAGGGGTATAACGTTTGCAC -3'
(R):5'- TGGGAACGTTTAGATCCTTGGAC -3'
Sequencing Primer
(F):5'- ACGTTTGCACAAAAGTCTGAG -3'
(R):5'- CGTTTAGATCCTTGGACTCAATTTTG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation