Incidental Mutation 'R6583:Ralgds'
| ID |
524209 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ralgds
|
| Ensembl Gene |
ENSMUSG00000026821 |
| Gene Name |
ral guanine nucleotide dissociation stimulator |
| Synonyms |
RalGDS, Rgds, Gnds |
| MMRRC Submission |
044707-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
R6583 (G1)
|
| Quality Score |
190.02 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
28403137-28443093 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 28423656 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 32
(A32T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097812
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028170]
[ENSMUST00000100241]
[ENSMUST00000113893]
[ENSMUST00000135803]
|
| AlphaFold |
Q03385 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028170
|
| SMART Domains |
Protein: ENSMUSP00000028170
Gene: ENSMUSG00000026821
| Domain | Start | End | E-Value | Type |
|---|
|
RasGEFN
|
56 |
194 |
4.02e-37 |
SMART |
|
low complexity region
|
239 |
285 |
N/A |
INTRINSIC |
|
RasGEF
|
320 |
587 |
5.28e-118 |
SMART |
|
low complexity region
|
613 |
626 |
N/A |
INTRINSIC |
|
low complexity region
|
646 |
655 |
N/A |
INTRINSIC |
|
low complexity region
|
683 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
716 |
726 |
N/A |
INTRINSIC |
|
RA
|
736 |
823 |
6.51e-22 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100241
AA Change: A32T
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000097812
Gene: ENSMUSG00000026821
AA Change: A32T
| Domain | Start | End | E-Value | Type |
|---|
|
RasGEFN
|
111 |
249 |
4.02e-37 |
SMART |
|
low complexity region
|
294 |
340 |
N/A |
INTRINSIC |
|
RasGEF
|
375 |
642 |
5.28e-118 |
SMART |
|
low complexity region
|
668 |
681 |
N/A |
INTRINSIC |
|
low complexity region
|
701 |
710 |
N/A |
INTRINSIC |
|
low complexity region
|
738 |
767 |
N/A |
INTRINSIC |
|
low complexity region
|
771 |
781 |
N/A |
INTRINSIC |
|
RA
|
791 |
878 |
6.51e-22 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113893
AA Change: A32T
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000109526
Gene: ENSMUSG00000026821
AA Change: A32T
| Domain | Start | End | E-Value | Type |
|---|
|
RasGEFN
|
111 |
237 |
1.25e-42 |
SMART |
|
low complexity region
|
282 |
328 |
N/A |
INTRINSIC |
|
RasGEF
|
363 |
630 |
5.28e-118 |
SMART |
|
low complexity region
|
656 |
669 |
N/A |
INTRINSIC |
|
low complexity region
|
689 |
698 |
N/A |
INTRINSIC |
|
low complexity region
|
726 |
755 |
N/A |
INTRINSIC |
|
low complexity region
|
759 |
769 |
N/A |
INTRINSIC |
|
RA
|
779 |
866 |
6.51e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135803
|
| SMART Domains |
Protein: ENSMUSP00000115092
Gene: ENSMUSG00000026821
| Domain | Start | End | E-Value | Type |
|---|
|
RasGEFN
|
56 |
127 |
2.47e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137513
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Guanine nucleotide dissociation stimulators (GDSs, or exchange factors), such as RALGDS, are effectors of Ras-related GTPases (see MIM 190020) that participate in signaling for a variety of cellular processes.[supplied by OMIM, Nov 2010]
PHENOTYPE: Homozygous mutant mice exhibit reduced tumor incidence, size and progression to malignancy in multistage skin carcinogenesis. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(16) : Targeted(5) Gene trapped(11)
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank2 |
A |
C |
3: 126,810,613 (GRCm39) |
I491S |
probably damaging |
Het |
| Armc12 |
A |
T |
17: 28,757,588 (GRCm39) |
Q240L |
probably null |
Het |
| Cntnap5c |
C |
T |
17: 58,637,272 (GRCm39) |
P1050S |
probably damaging |
Het |
| Col4a3 |
C |
A |
1: 82,619,197 (GRCm39) |
A42E |
unknown |
Het |
| D630003M21Rik |
A |
G |
2: 158,062,436 (GRCm39) |
V28A |
probably damaging |
Het |
| Dbf4 |
A |
G |
5: 8,448,143 (GRCm39) |
S355P |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,150,516 (GRCm39) |
V749A |
probably benign |
Het |
| Exoc4 |
T |
C |
6: 33,792,688 (GRCm39) |
L606P |
probably damaging |
Het |
| Fggy |
T |
C |
4: 95,489,210 (GRCm39) |
S109P |
probably benign |
Het |
| Gdf7 |
T |
A |
12: 8,351,758 (GRCm39) |
Q59L |
unknown |
Het |
| M6pr |
T |
C |
6: 122,290,349 (GRCm39) |
V104A |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,364,739 (GRCm39) |
|
probably null |
Het |
| Micu2 |
T |
C |
14: 58,181,127 (GRCm39) |
K169R |
probably damaging |
Het |
| Mthfd1l |
A |
G |
10: 3,997,937 (GRCm39) |
D636G |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Nfib |
T |
G |
4: 82,416,708 (GRCm39) |
D125A |
probably damaging |
Het |
| Nuf2 |
T |
C |
1: 169,332,117 (GRCm39) |
T393A |
probably benign |
Het |
| Or8b49 |
G |
A |
9: 38,506,260 (GRCm39) |
V248I |
possibly damaging |
Het |
| Paox |
T |
A |
7: 139,706,291 (GRCm39) |
N70K |
probably damaging |
Het |
| Pnma8b |
A |
G |
7: 16,679,844 (GRCm39) |
N276S |
probably damaging |
Het |
| Samd11 |
T |
A |
4: 156,332,591 (GRCm39) |
N446I |
possibly damaging |
Het |
| Soat1 |
T |
C |
1: 156,294,062 (GRCm39) |
|
probably null |
Het |
| Tmem87a |
A |
T |
2: 120,205,958 (GRCm39) |
V339E |
possibly damaging |
Het |
| Tmprss13 |
G |
T |
9: 45,256,603 (GRCm39) |
C516F |
probably damaging |
Het |
| Vmn2r69 |
T |
C |
7: 85,059,017 (GRCm39) |
T515A |
probably benign |
Het |
| Xrcc5 |
T |
C |
1: 72,351,752 (GRCm39) |
|
probably null |
Het |
| Ywhaz |
T |
C |
15: 36,791,166 (GRCm39) |
Y19C |
probably damaging |
Het |
| Zfp964 |
G |
T |
8: 70,115,633 (GRCm39) |
D78Y |
probably damaging |
Het |
|
| Other mutations in Ralgds |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00426:Ralgds
|
APN |
2 |
28,442,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01774:Ralgds
|
APN |
2 |
28,440,554 (GRCm39) |
nonsense |
probably null |
|
|
IGL02747:Ralgds
|
APN |
2 |
28,438,122 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03135:Ralgds
|
APN |
2 |
28,439,100 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4458001:Ralgds
|
UTSW |
2 |
28,432,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4531001:Ralgds
|
UTSW |
2 |
28,435,226 (GRCm39) |
nonsense |
probably null |
|
|
R0049:Ralgds
|
UTSW |
2 |
28,432,391 (GRCm39) |
synonymous |
silent |
|
|
R0052:Ralgds
|
UTSW |
2 |
28,434,400 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0052:Ralgds
|
UTSW |
2 |
28,434,400 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0285:Ralgds
|
UTSW |
2 |
28,440,581 (GRCm39) |
splice site |
probably null |
|
|
R0665:Ralgds
|
UTSW |
2 |
28,435,218 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0718:Ralgds
|
UTSW |
2 |
28,439,128 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1755:Ralgds
|
UTSW |
2 |
28,440,558 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1966:Ralgds
|
UTSW |
2 |
28,435,887 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2873:Ralgds
|
UTSW |
2 |
28,438,781 (GRCm39) |
splice site |
probably null |
|
|
R2874:Ralgds
|
UTSW |
2 |
28,438,781 (GRCm39) |
splice site |
probably null |
|
|
R4082:Ralgds
|
UTSW |
2 |
28,442,283 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4342:Ralgds
|
UTSW |
2 |
28,442,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4344:Ralgds
|
UTSW |
2 |
28,442,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4647:Ralgds
|
UTSW |
2 |
28,435,532 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4738:Ralgds
|
UTSW |
2 |
28,435,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4762:Ralgds
|
UTSW |
2 |
28,442,164 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5027:Ralgds
|
UTSW |
2 |
28,442,102 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5320:Ralgds
|
UTSW |
2 |
28,435,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5738:Ralgds
|
UTSW |
2 |
28,432,538 (GRCm39) |
intron |
probably benign |
|
|
R5969:Ralgds
|
UTSW |
2 |
28,432,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6014:Ralgds
|
UTSW |
2 |
28,433,673 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6136:Ralgds
|
UTSW |
2 |
28,440,577 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6137:Ralgds
|
UTSW |
2 |
28,437,600 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6618:Ralgds
|
UTSW |
2 |
28,440,523 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6801:Ralgds
|
UTSW |
2 |
28,438,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7046:Ralgds
|
UTSW |
2 |
28,430,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7095:Ralgds
|
UTSW |
2 |
28,439,320 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7276:Ralgds
|
UTSW |
2 |
28,435,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7399:Ralgds
|
UTSW |
2 |
28,433,667 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7446:Ralgds
|
UTSW |
2 |
28,435,901 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7560:Ralgds
|
UTSW |
2 |
28,437,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8384:Ralgds
|
UTSW |
2 |
28,437,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9422:Ralgds
|
UTSW |
2 |
28,435,184 (GRCm39) |
missense |
probably benign |
|
|
X0028:Ralgds
|
UTSW |
2 |
28,438,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTATGCAAGCGCTGTCCAC -3'
(R):5'- GGAAGCTGTAATGCCCAACTGG -3'
Sequencing Primer
(F):5'- TGCCAACTAGAGGAGGCC -3'
(R):5'- CACAATGCTGCAAAGGAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation