Incidental Mutation 'IGL02747:Ralgds'
ID |
306096 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ralgds
|
Ensembl Gene |
ENSMUSG00000026821 |
Gene Name |
ral guanine nucleotide dissociation stimulator |
Synonyms |
RalGDS, Gnds, Rgds |
Accession Numbers |
Ncbi RefSeq: NM_001145835.1, NM_001145836.1, NM_009058.2, NM_001145834.1; MGI:107485
|
Is this an essential gene? |
Probably non essential
(E-score: 0.196)
|
Stock # |
IGL02747
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
28513125-28553081 bp(+) (GRCm38) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 28548110 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118966
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028170]
[ENSMUST00000100241]
[ENSMUST00000113893]
[ENSMUST00000140704]
|
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 benign
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 benign
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
Strain: 3574574
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 |
Abca13 |
T |
A |
11: 9,373,282 |
L3373* |
probably null |
Het |
Ap1s3 |
T |
C |
1: 79,623,692 |
Y94C |
probably damaging |
Het |
BC048403 |
A |
C |
10: 121,745,550 |
Q152P |
possibly damaging |
Het |
Dbx2 |
T |
C |
15: 95,632,439 |
T216A |
probably benign |
Het |
Dsg4 |
A |
G |
18: 20,446,938 |
R67G |
probably damaging |
Het |
Eng |
G |
A |
2: 32,672,958 |
|
probably null |
Het |
Gm28042 |
T |
A |
2: 120,031,394 |
I206N |
probably damaging |
Het |
Gsdmc4 |
C |
T |
15: 63,893,871 |
M276I |
probably benign |
Het |
Itih2 |
A |
G |
2: 10,097,945 |
S793P |
probably benign |
Het |
Kcnj13 |
T |
C |
1: 87,389,365 |
N9D |
probably benign |
Het |
Krt78 |
T |
A |
15: 101,950,384 |
|
probably benign |
Het |
Megf10 |
A |
G |
18: 57,290,493 |
K985E |
probably benign |
Het |
Naa25 |
A |
G |
5: 121,414,605 |
|
probably benign |
Het |
Olfr918 |
T |
C |
9: 38,673,084 |
Y133C |
probably benign |
Het |
Plekhm2 |
T |
C |
4: 141,634,272 |
T307A |
possibly damaging |
Het |
Ppp1cc |
A |
G |
5: 122,174,073 |
K301E |
probably benign |
Het |
Rccd1 |
A |
T |
7: 80,320,490 |
D126E |
probably benign |
Het |
Reps1 |
T |
C |
10: 18,123,600 |
S712P |
probably damaging |
Het |
Rnf103 |
T |
A |
6: 71,509,177 |
I264N |
probably damaging |
Het |
Rpap1 |
A |
G |
2: 119,774,128 |
I433T |
probably damaging |
Het |
Ryr2 |
T |
G |
13: 11,655,677 |
N3478H |
probably damaging |
Het |
Sox30 |
A |
G |
11: 45,980,945 |
D209G |
probably benign |
Het |
Sox6 |
A |
G |
7: 115,489,746 |
F628S |
probably damaging |
Het |
Tas1r3 |
C |
T |
4: 155,860,460 |
G768D |
possibly damaging |
Het |
Tesk2 |
T |
C |
4: 116,802,879 |
V398A |
probably benign |
Het |
Tmem135 |
A |
T |
7: 89,144,670 |
I388N |
probably damaging |
Het |
Tpgs2 |
A |
G |
18: 25,139,145 |
|
probably benign |
Het |
Vmn2r120 |
G |
A |
17: 57,524,719 |
H357Y |
probably benign |
Het |
|
Other mutations in Ralgds |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00426:Ralgds
|
APN |
2 |
28552218 |
missense |
probably damaging |
1.00 |
IGL01774:Ralgds
|
APN |
2 |
28550542 |
nonsense |
probably null |
|
IGL03135:Ralgds
|
APN |
2 |
28549088 |
missense |
probably damaging |
0.99 |
PIT4458001:Ralgds
|
UTSW |
2 |
28542474 |
missense |
probably damaging |
1.00 |
PIT4531001:Ralgds
|
UTSW |
2 |
28545214 |
nonsense |
probably null |
|
R0049:Ralgds
|
UTSW |
2 |
28542379 |
synonymous |
silent |
|
R0052:Ralgds
|
UTSW |
2 |
28544388 |
critical splice donor site |
probably null |
|
R0052:Ralgds
|
UTSW |
2 |
28544388 |
critical splice donor site |
probably null |
|
R0285:Ralgds
|
UTSW |
2 |
28550569 |
splice site |
probably null |
|
R0665:Ralgds
|
UTSW |
2 |
28545206 |
missense |
probably damaging |
0.98 |
R0718:Ralgds
|
UTSW |
2 |
28549116 |
missense |
probably benign |
0.37 |
R1755:Ralgds
|
UTSW |
2 |
28550546 |
missense |
probably damaging |
0.99 |
R1966:Ralgds
|
UTSW |
2 |
28545875 |
missense |
probably damaging |
0.96 |
R2873:Ralgds
|
UTSW |
2 |
28548769 |
splice site |
probably null |
|
R2874:Ralgds
|
UTSW |
2 |
28548769 |
splice site |
probably null |
|
R4082:Ralgds
|
UTSW |
2 |
28552271 |
utr 3 prime |
probably benign |
|
R4342:Ralgds
|
UTSW |
2 |
28552095 |
missense |
probably damaging |
1.00 |
R4344:Ralgds
|
UTSW |
2 |
28552095 |
missense |
probably damaging |
1.00 |
R4647:Ralgds
|
UTSW |
2 |
28545520 |
critical splice donor site |
probably null |
|
R4738:Ralgds
|
UTSW |
2 |
28545416 |
missense |
probably damaging |
1.00 |
R4762:Ralgds
|
UTSW |
2 |
28552152 |
missense |
probably damaging |
0.97 |
R5027:Ralgds
|
UTSW |
2 |
28552090 |
critical splice acceptor site |
probably null |
|
R5320:Ralgds
|
UTSW |
2 |
28545212 |
missense |
probably damaging |
1.00 |
R5738:Ralgds
|
UTSW |
2 |
28542526 |
intron |
probably benign |
|
R5969:Ralgds
|
UTSW |
2 |
28542414 |
missense |
probably damaging |
1.00 |
R6014:Ralgds
|
UTSW |
2 |
28543661 |
missense |
probably damaging |
0.97 |
R6136:Ralgds
|
UTSW |
2 |
28550565 |
critical splice donor site |
probably null |
|
R6137:Ralgds
|
UTSW |
2 |
28547588 |
missense |
probably damaging |
0.99 |
R6583:Ralgds
|
UTSW |
2 |
28533644 |
missense |
probably damaging |
0.99 |
R6618:Ralgds
|
UTSW |
2 |
28550511 |
missense |
probably benign |
0.09 |
R6801:Ralgds
|
UTSW |
2 |
28548436 |
missense |
probably damaging |
1.00 |
R7046:Ralgds
|
UTSW |
2 |
28540729 |
missense |
probably damaging |
1.00 |
R7095:Ralgds
|
UTSW |
2 |
28549308 |
missense |
possibly damaging |
0.83 |
R7276:Ralgds
|
UTSW |
2 |
28545872 |
missense |
probably damaging |
1.00 |
R7399:Ralgds
|
UTSW |
2 |
28543655 |
missense |
possibly damaging |
0.95 |
R7446:Ralgds
|
UTSW |
2 |
28545889 |
missense |
probably damaging |
0.99 |
R7560:Ralgds
|
UTSW |
2 |
28547595 |
missense |
probably damaging |
1.00 |
R8384:Ralgds
|
UTSW |
2 |
28547170 |
missense |
probably damaging |
1.00 |
R9422:Ralgds
|
UTSW |
2 |
28545172 |
missense |
probably benign |
|
X0028:Ralgds
|
UTSW |
2 |
28548699 |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |