Incidental Mutation 'R2874:Ralgds'
ID |
260446 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ralgds
|
Ensembl Gene |
ENSMUSG00000026821 |
Gene Name |
ral guanine nucleotide dissociation stimulator |
Synonyms |
RalGDS, Rgds, Gnds |
MMRRC Submission |
040462-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.148)
|
Stock # |
R2874 (G1)
|
Quality Score |
217 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
28403137-28443093 bp(+) (GRCm39) |
Type of Mutation |
splice site (4 bp from exon) |
DNA Base Change (assembly) |
A to G
at 28438781 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109526
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028170]
[ENSMUST00000100241]
[ENSMUST00000113893]
[ENSMUST00000140704]
|
AlphaFold |
Q03385 |
Predicted Effect |
probably null
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 null
Transcript: ENSMUST00000100241
|
SMART Domains |
Protein: ENSMUSP00000097812 Gene: ENSMUSG00000026821
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 null
Transcript: ENSMUST00000113893
|
SMART Domains |
Protein: ENSMUSP00000109526 Gene: ENSMUSG00000026821
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: 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: 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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
100% (57/57) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930029G22Rik |
T |
A |
17: 69,725,106 (GRCm39) |
|
noncoding transcript |
Het |
Ankrd42 |
T |
C |
7: 92,254,566 (GRCm39) |
K348E |
possibly damaging |
Het |
Arhgef10 |
T |
C |
8: 15,025,093 (GRCm39) |
|
probably null |
Het |
Arhgef10 |
A |
G |
8: 15,025,666 (GRCm39) |
I459V |
probably benign |
Het |
Cd6 |
A |
G |
19: 10,771,990 (GRCm39) |
I307T |
possibly damaging |
Het |
Cebpz |
A |
T |
17: 79,239,532 (GRCm39) |
|
probably benign |
Het |
Clcn4 |
A |
G |
7: 7,293,520 (GRCm39) |
I412T |
probably benign |
Het |
Clstn3 |
T |
A |
6: 124,415,294 (GRCm39) |
D690V |
probably damaging |
Het |
Col12a1 |
A |
T |
9: 79,606,831 (GRCm39) |
F531I |
probably damaging |
Het |
Dennd2b |
A |
T |
7: 109,156,637 (GRCm39) |
Y38N |
probably benign |
Het |
Dhx57 |
A |
T |
17: 80,558,805 (GRCm39) |
D1051E |
probably benign |
Het |
Ext2 |
A |
G |
2: 93,570,031 (GRCm39) |
V460A |
possibly damaging |
Het |
Frmpd4 |
A |
T |
X: 166,260,243 (GRCm39) |
D1166E |
probably benign |
Het |
Fscb |
T |
C |
12: 64,520,210 (GRCm39) |
K419E |
probably benign |
Het |
Ftdc1 |
A |
T |
16: 58,434,342 (GRCm39) |
I125K |
probably benign |
Het |
Ggct |
G |
T |
6: 54,969,759 (GRCm39) |
A21D |
probably damaging |
Het |
Gm10717 |
A |
G |
9: 3,025,532 (GRCm39) |
Y39C |
probably benign |
Het |
Grid2ip |
C |
A |
5: 143,343,684 (GRCm39) |
Q127K |
probably benign |
Het |
Ighv2-2 |
G |
A |
12: 113,552,118 (GRCm39) |
T40I |
possibly damaging |
Het |
Itpr2 |
T |
C |
6: 146,327,996 (GRCm39) |
K79R |
possibly damaging |
Het |
Klf8 |
A |
T |
X: 152,165,678 (GRCm39) |
E82D |
probably damaging |
Het |
Kpna7 |
T |
C |
5: 144,930,745 (GRCm39) |
T367A |
probably benign |
Het |
Lactbl1 |
G |
A |
4: 136,354,097 (GRCm39) |
C37Y |
probably damaging |
Het |
Lrp1b |
A |
G |
2: 40,741,705 (GRCm39) |
L3188P |
probably damaging |
Het |
Matcap1 |
A |
G |
8: 106,008,664 (GRCm39) |
M451T |
possibly damaging |
Het |
Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
Noc4l |
A |
G |
5: 110,796,969 (GRCm39) |
V465A |
probably benign |
Het |
Notch1 |
A |
G |
2: 26,350,247 (GRCm39) |
C2298R |
possibly damaging |
Het |
Or10z1 |
T |
C |
1: 174,078,092 (GRCm39) |
S134G |
probably benign |
Het |
Parp1 |
A |
G |
1: 180,401,230 (GRCm39) |
D45G |
probably damaging |
Het |
Plxna3 |
T |
A |
X: 73,383,002 (GRCm39) |
|
probably benign |
Het |
Prdx4 |
A |
G |
X: 154,123,460 (GRCm39) |
V15A |
probably benign |
Het |
Prps1 |
C |
T |
X: 139,372,743 (GRCm39) |
|
probably benign |
Het |
Psmb8 |
T |
C |
17: 34,419,144 (GRCm39) |
I146T |
probably damaging |
Het |
Qng1 |
T |
A |
13: 58,530,384 (GRCm39) |
I209F |
probably damaging |
Het |
Rasl12 |
A |
G |
9: 65,315,605 (GRCm39) |
N83S |
probably benign |
Het |
Rnf6 |
T |
C |
5: 146,147,215 (GRCm39) |
Y601C |
probably benign |
Het |
Rreb1 |
T |
C |
13: 38,100,484 (GRCm39) |
I205T |
probably benign |
Het |
Sgk2 |
A |
G |
2: 162,836,449 (GRCm39) |
|
probably benign |
Het |
Spsb4 |
G |
T |
9: 96,878,071 (GRCm39) |
T84K |
probably damaging |
Het |
St7 |
C |
T |
6: 17,819,276 (GRCm39) |
P60L |
probably damaging |
Het |
Stx3 |
A |
T |
19: 11,766,938 (GRCm39) |
V91D |
probably damaging |
Het |
Tbc1d8 |
A |
G |
1: 39,444,398 (GRCm39) |
F187S |
probably damaging |
Het |
Tep1 |
A |
G |
14: 51,088,107 (GRCm39) |
I85T |
possibly damaging |
Het |
Trpa1 |
A |
G |
1: 14,957,844 (GRCm39) |
C705R |
probably damaging |
Het |
Vmn2r68 |
A |
C |
7: 84,882,834 (GRCm39) |
M306R |
probably benign |
Het |
Vwa7 |
G |
A |
17: 35,240,218 (GRCm39) |
M395I |
probably damaging |
Het |
Zfp53 |
A |
T |
17: 21,728,340 (GRCm39) |
E124D |
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 |
|
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 |
|
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'- ACATGATGTCATCACTGTTGCCTG -3'
(R):5'- CAGGAAACACTTGGCTTACTCTC -3'
Sequencing Primer
(F):5'- TGGTGACAGCTGCGTATCCAG -3'
(R):5'- AAACACTTGGCTTACTCTCAGGGTC -3'
|
Posted On |
2015-01-23 |