Incidental Mutation 'R0665:Ralgds'
ID |
61969 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ralgds
|
Ensembl Gene |
ENSMUSG00000026821 |
Gene Name |
ral guanine nucleotide dissociation stimulator |
Synonyms |
RalGDS, Rgds, Gnds |
MMRRC Submission |
038850-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.187)
|
Stock # |
R0665 (G1)
|
Quality Score |
95 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
28403137-28443093 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 28435218 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 458
(H458R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097812
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028170]
[ENSMUST00000100241]
[ENSMUST00000113893]
[ENSMUST00000135803]
[ENSMUST00000140704]
|
AlphaFold |
Q03385 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028170
AA Change: H403R
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000028170 Gene: ENSMUSG00000026821 AA Change: H403R
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: H458R
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000097812 Gene: ENSMUSG00000026821 AA Change: H458R
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 benign
Transcript: ENSMUST00000113893
AA Change: H446R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000109526 Gene: ENSMUSG00000026821 AA Change: H446R
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 |
noncoding transcript
Transcript: ENSMUST00000128680
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130281
|
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 |
probably benign
Transcript: ENSMUST00000137215
|
SMART Domains |
Protein: ENSMUSP00000116215 Gene: ENSMUSG00000026821
Domain | Start | End | E-Value | Type |
RasGEFN
|
1 |
107 |
5.55e-8 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146217
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137513
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140704
|
SMART Domains |
Protein: ENSMUSP00000118966 Gene: ENSMUSG00000026821
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
RA
|
36 |
123 |
6.51e-22 |
SMART |
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.2%
|
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 |
Agbl2 |
A |
G |
2: 90,631,554 (GRCm39) |
Y304C |
probably damaging |
Het |
B3galt2 |
T |
C |
1: 143,522,191 (GRCm39) |
V109A |
possibly damaging |
Het |
Chml |
T |
A |
1: 175,515,461 (GRCm39) |
E153D |
probably benign |
Het |
Dap3 |
A |
T |
3: 88,838,304 (GRCm39) |
C78* |
probably null |
Het |
Dnah8 |
T |
C |
17: 30,955,129 (GRCm39) |
F2053L |
probably damaging |
Het |
Dppa3 |
A |
G |
6: 122,606,939 (GRCm39) |
E143G |
probably damaging |
Het |
Espnl |
T |
G |
1: 91,262,409 (GRCm39) |
|
probably null |
Het |
Fat3 |
C |
T |
9: 15,908,698 (GRCm39) |
A2435T |
probably benign |
Het |
Flnc |
G |
A |
6: 29,455,530 (GRCm39) |
V2027M |
probably damaging |
Het |
Gtf2h2 |
C |
T |
13: 100,617,562 (GRCm39) |
G200E |
probably damaging |
Het |
Gtpbp1 |
A |
G |
15: 79,597,648 (GRCm39) |
I348V |
probably benign |
Het |
Kansl1 |
A |
G |
11: 104,234,364 (GRCm39) |
V714A |
probably benign |
Het |
Kcnk10 |
T |
C |
12: 98,406,944 (GRCm39) |
I251V |
probably benign |
Het |
Kri1 |
G |
A |
9: 21,192,936 (GRCm39) |
|
probably benign |
Het |
Lcmt1 |
G |
A |
7: 123,002,094 (GRCm39) |
D120N |
probably damaging |
Het |
Myom3 |
A |
G |
4: 135,492,237 (GRCm39) |
D127G |
possibly damaging |
Het |
Or12e1 |
A |
G |
2: 87,022,652 (GRCm39) |
Y207C |
probably damaging |
Het |
Or1j4 |
T |
C |
2: 36,740,202 (GRCm39) |
L48P |
probably damaging |
Het |
Or5w13 |
C |
T |
2: 87,524,152 (GRCm39) |
V25I |
probably benign |
Het |
Phyhd1 |
A |
G |
2: 30,171,040 (GRCm39) |
H241R |
probably damaging |
Het |
Ppp2r5d |
A |
T |
17: 46,997,330 (GRCm39) |
N287K |
probably damaging |
Het |
Scn3a |
C |
A |
2: 65,314,755 (GRCm39) |
R1102L |
probably null |
Het |
Sdhc |
T |
C |
1: 170,963,626 (GRCm39) |
Y80C |
probably damaging |
Het |
Smarca4 |
CGAGGAGGAGGAGGAGG |
CGAGGAGGAGGAGG |
9: 21,612,239 (GRCm39) |
|
probably benign |
Het |
Tgfbr3 |
A |
T |
5: 107,325,716 (GRCm39) |
H115Q |
probably benign |
Het |
Triobp |
T |
C |
15: 78,858,098 (GRCm39) |
L1233P |
possibly damaging |
Het |
Trpc6 |
A |
C |
9: 8,634,123 (GRCm39) |
T401P |
probably benign |
Het |
Ttc5 |
T |
A |
14: 51,003,415 (GRCm39) |
Q423L |
probably benign |
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 |
|
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 |
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'- CAAGAAAGTCGTGCCCTACCACTG -3'
(R):5'- CTCTGCTGTTGGGCCTCACTAAAG -3'
Sequencing Primer
(F):5'- GCCCTACCACTGCCTGG -3'
(R):5'- TAGAGCCAGCCTGGGATAC -3'
|
Posted On |
2013-07-30 |