Incidental Mutation 'R7046:Ralgds'
ID |
547295 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ralgds
|
Ensembl Gene |
ENSMUSG00000026821 |
Gene Name |
ral guanine nucleotide dissociation stimulator |
Synonyms |
RalGDS, Rgds, Gnds |
MMRRC Submission |
045144-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.148)
|
Stock # |
R7046 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
28403137-28443093 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 28430741 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Tryptophan
at position 68
(G68W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109526
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028170]
[ENSMUST00000100241]
[ENSMUST00000113893]
[ENSMUST00000135803]
|
AlphaFold |
Q03385 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028170
AA Change: G13W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000028170 Gene: ENSMUSG00000026821 AA Change: G13W
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: G68W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000097812 Gene: ENSMUSG00000026821 AA Change: G68W
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 |
probably damaging
Transcript: ENSMUST00000113893
AA Change: G68W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109526 Gene: ENSMUSG00000026821 AA Change: G68W
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 damaging
Transcript: ENSMUST00000135803
AA Change: G13W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000115092 Gene: ENSMUSG00000026821 AA Change: G13W
Domain | Start | End | E-Value | Type |
RasGEFN
|
56 |
127 |
2.47e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137215
|
SMART Domains |
Protein: ENSMUSP00000116215 Gene: ENSMUSG00000026821
Domain | Start | End | E-Value | Type |
RasGEFN
|
1 |
107 |
5.55e-8 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (63/63) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc8 |
T |
C |
7: 45,772,364 (GRCm39) |
Y805C |
probably damaging |
Het |
Aoc1l3 |
T |
A |
6: 48,964,512 (GRCm39) |
D173E |
probably benign |
Het |
Cabp7 |
T |
A |
11: 4,688,886 (GRCm39) |
I195F |
probably damaging |
Het |
Camsap1 |
T |
C |
2: 25,835,201 (GRCm39) |
N317S |
probably damaging |
Het |
Ccdc127 |
T |
G |
13: 74,500,994 (GRCm39) |
L4V |
probably damaging |
Het |
Ccdc7a |
T |
C |
8: 129,774,100 (GRCm39) |
E145G |
probably damaging |
Het |
Cdh10 |
T |
A |
15: 19,013,287 (GRCm39) |
V629D |
probably damaging |
Het |
Cdh23 |
A |
C |
10: 60,214,530 (GRCm39) |
L1497R |
probably damaging |
Het |
Chsy3 |
A |
G |
18: 59,542,875 (GRCm39) |
K671R |
probably benign |
Het |
Clca4b |
T |
C |
3: 144,621,367 (GRCm39) |
Y569C |
probably damaging |
Het |
Cnga1 |
T |
C |
5: 72,786,696 (GRCm39) |
|
probably benign |
Het |
Cyp51 |
T |
A |
5: 4,150,188 (GRCm39) |
E178D |
probably damaging |
Het |
Defa30 |
T |
A |
8: 21,625,471 (GRCm39) |
N78K |
probably benign |
Het |
Disp1 |
C |
A |
1: 182,869,030 (GRCm39) |
R1130L |
probably damaging |
Het |
Dnah14 |
G |
T |
1: 181,450,568 (GRCm39) |
C727F |
probably benign |
Het |
Egf |
A |
T |
3: 129,548,607 (GRCm39) |
W3R |
unknown |
Het |
Egfem1 |
G |
A |
3: 29,136,364 (GRCm39) |
|
probably null |
Het |
Epb41l1 |
G |
T |
2: 156,368,812 (GRCm39) |
V682L |
possibly damaging |
Het |
Etv1 |
A |
G |
12: 38,834,369 (GRCm39) |
|
probably null |
Het |
Faap100 |
A |
G |
11: 120,268,200 (GRCm39) |
F191S |
possibly damaging |
Het |
Fmo1 |
T |
A |
1: 162,667,263 (GRCm39) |
D184V |
possibly damaging |
Het |
Ghrl |
A |
G |
6: 113,696,344 (GRCm39) |
L16P |
probably damaging |
Het |
Gria4 |
T |
A |
9: 4,420,278 (GRCm39) |
L861F |
probably damaging |
Het |
Gsr |
T |
A |
8: 34,185,090 (GRCm39) |
M428K |
probably damaging |
Het |
Hspa5 |
C |
T |
2: 34,663,204 (GRCm39) |
P127L |
probably damaging |
Het |
Kbtbd12 |
A |
G |
6: 88,595,497 (GRCm39) |
M111T |
possibly damaging |
Het |
Krtap21-1 |
G |
T |
16: 89,200,623 (GRCm39) |
Y6* |
probably null |
Het |
Lin9 |
A |
G |
1: 180,494,935 (GRCm39) |
D219G |
probably damaging |
Het |
Lrrc38 |
A |
G |
4: 143,076,739 (GRCm39) |
M1V |
probably null |
Het |
Macc1 |
T |
G |
12: 119,410,773 (GRCm39) |
F514V |
probably benign |
Het |
Madcam1 |
C |
T |
10: 79,504,139 (GRCm39) |
R242C |
probably benign |
Het |
Mfhas1 |
T |
C |
8: 36,131,944 (GRCm39) |
S1037P |
probably benign |
Het |
Micall2 |
C |
T |
5: 139,694,699 (GRCm39) |
|
probably benign |
Het |
Mtr |
C |
A |
13: 12,205,095 (GRCm39) |
A1122S |
possibly damaging |
Het |
Muc6 |
T |
A |
7: 141,226,456 (GRCm39) |
|
probably benign |
Het |
Myh15 |
T |
A |
16: 48,929,662 (GRCm39) |
C529* |
probably null |
Het |
Napsa |
T |
C |
7: 44,234,509 (GRCm39) |
V247A |
probably damaging |
Het |
Nr2c2 |
A |
G |
6: 92,135,338 (GRCm39) |
T309A |
probably damaging |
Het |
Or1e26 |
A |
T |
11: 73,480,558 (GRCm39) |
I2K |
probably benign |
Het |
Or1q1 |
T |
A |
2: 36,887,173 (GRCm39) |
V117E |
probably benign |
Het |
Or2n1b |
A |
T |
17: 38,459,691 (GRCm39) |
M71L |
probably benign |
Het |
Osgepl1 |
A |
T |
1: 53,360,710 (GRCm39) |
I384F |
possibly damaging |
Het |
Otud4 |
C |
T |
8: 80,377,671 (GRCm39) |
L111F |
possibly damaging |
Het |
Pds5b |
A |
G |
5: 150,673,385 (GRCm39) |
Y481C |
probably damaging |
Het |
Pdzrn4 |
T |
A |
15: 92,668,303 (GRCm39) |
Y818* |
probably null |
Het |
Pin1rt1 |
T |
C |
2: 104,544,767 (GRCm39) |
S122G |
probably benign |
Het |
Pkdcc |
A |
T |
17: 83,531,687 (GRCm39) |
Y487F |
probably damaging |
Het |
Plxna4 |
C |
T |
6: 32,493,440 (GRCm39) |
C392Y |
probably damaging |
Het |
Psd4 |
T |
G |
2: 24,284,985 (GRCm39) |
M283R |
probably benign |
Het |
Rmdn2 |
T |
A |
17: 79,928,808 (GRCm39) |
I20N |
probably damaging |
Het |
Sestd1 |
A |
G |
2: 77,022,910 (GRCm39) |
V486A |
probably benign |
Het |
Skic8 |
T |
A |
9: 54,626,539 (GRCm39) |
D275V |
probably damaging |
Het |
Spmap2 |
G |
T |
10: 79,422,796 (GRCm39) |
D35E |
probably benign |
Het |
Tango6 |
A |
G |
8: 107,533,748 (GRCm39) |
H958R |
possibly damaging |
Het |
Taok3 |
C |
T |
5: 117,411,771 (GRCm39) |
R857C |
probably damaging |
Het |
Tasor |
A |
T |
14: 27,194,392 (GRCm39) |
L1197F |
probably damaging |
Het |
Trio |
T |
C |
15: 27,832,137 (GRCm39) |
E1245G |
probably damaging |
Het |
Usp19 |
C |
T |
9: 108,374,334 (GRCm39) |
H763Y |
possibly damaging |
Het |
Vmn1r185 |
A |
G |
7: 26,310,651 (GRCm39) |
S285P |
probably damaging |
Het |
Vmn1r45 |
T |
G |
6: 89,910,538 (GRCm39) |
Y144S |
probably benign |
Het |
Vwa3b |
G |
A |
1: 37,212,959 (GRCm39) |
E152K |
probably benign |
Het |
Xrcc5 |
G |
A |
1: 72,433,875 (GRCm39) |
M731I |
probably benign |
Het |
Zfp619 |
G |
A |
7: 39,186,787 (GRCm39) |
S939N |
possibly damaging |
Het |
Zfp874a |
C |
A |
13: 67,590,418 (GRCm39) |
C422F |
probably damaging |
Het |
Zfp948 |
A |
G |
17: 21,808,719 (GRCm39) |
D637G |
possibly 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 |
R6583:Ralgds
|
UTSW |
2 |
28,423,656 (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 |
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'- TCCTGAGATGTTGACCTTAAGG -3'
(R):5'- CAGGATCTTTGTGCATGGGC -3'
Sequencing Primer
(F):5'- CTTAAGGTCGTGAGGAGCC -3'
(R):5'- TCAGCCCAGAGTCGCAAG -3'
|
Posted On |
2019-05-13 |