Incidental Mutation 'IGL00426:Ralgds'
ID |
7250 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ralgds
|
Ensembl Gene |
ENSMUSG00000026821 |
Gene Name |
ral guanine nucleotide dissociation stimulator |
Synonyms |
RalGDS, Rgds, Gnds |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.148)
|
Stock # |
IGL00426
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
28403137-28443093 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 28442230 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 137
(L137P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118966
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028161]
[ENSMUST00000028170]
[ENSMUST00000100241]
[ENSMUST00000113893]
[ENSMUST00000140704]
|
AlphaFold |
Q03385 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028161
|
SMART Domains |
Protein: ENSMUSP00000028161 Gene: ENSMUSG00000026818
Domain | Start | End | E-Value | Type |
Pfam:COesterase
|
1 |
542 |
2.4e-163 |
PFAM |
Pfam:Abhydrolase_3
|
121 |
226 |
8e-8 |
PFAM |
low complexity region
|
568 |
589 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028170
AA Change: L837P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000028170 Gene: ENSMUSG00000026821 AA Change: L837P
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: L892P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000097812 Gene: ENSMUSG00000026821 AA Change: L892P
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: L880P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000109526 Gene: ENSMUSG00000026821 AA Change: L880P
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 |
noncoding transcript
Transcript: ENSMUST00000137513
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000140704
AA Change: L137P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000118966 Gene: ENSMUSG00000026821 AA Change: L137P
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 |
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
G |
A |
1: 11,818,278 (GRCm39) |
E313K |
probably damaging |
Het |
Aadacl2fm2 |
T |
A |
3: 59,659,542 (GRCm39) |
L332I |
possibly damaging |
Het |
Adgrl2 |
A |
G |
3: 148,571,244 (GRCm39) |
V130A |
probably damaging |
Het |
Arhgef28 |
G |
A |
13: 98,124,785 (GRCm39) |
A499V |
probably benign |
Het |
Ceacam18 |
C |
T |
7: 43,288,780 (GRCm39) |
T177I |
probably benign |
Het |
Cspp1 |
G |
A |
1: 10,182,776 (GRCm39) |
|
probably benign |
Het |
Cyp2j7 |
A |
T |
4: 96,115,749 (GRCm39) |
|
probably benign |
Het |
Cyp2j7 |
C |
T |
4: 96,115,750 (GRCm39) |
|
probably null |
Het |
Dip2c |
T |
C |
13: 9,656,551 (GRCm39) |
F821L |
probably damaging |
Het |
Lrig3 |
A |
T |
10: 125,808,006 (GRCm39) |
R85* |
probably null |
Het |
Mcf2l |
A |
G |
8: 13,034,910 (GRCm39) |
D106G |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,719,214 (GRCm39) |
V2259A |
possibly damaging |
Het |
Mmp16 |
C |
T |
4: 18,011,784 (GRCm39) |
P233L |
probably benign |
Het |
Mrpl27 |
A |
G |
11: 94,550,523 (GRCm39) |
N110S |
probably benign |
Het |
Myom2 |
T |
C |
8: 15,119,502 (GRCm39) |
M131T |
probably benign |
Het |
Myzap |
T |
C |
9: 71,462,953 (GRCm39) |
T198A |
probably benign |
Het |
Nek8 |
T |
C |
11: 78,058,653 (GRCm39) |
Q549R |
probably damaging |
Het |
Nr1d2 |
A |
G |
14: 18,215,502 (GRCm38) |
|
probably benign |
Het |
Nup155 |
T |
C |
15: 8,186,278 (GRCm39) |
*1347Q |
probably null |
Het |
Pkd2l1 |
C |
T |
19: 44,144,044 (GRCm39) |
R343H |
probably benign |
Het |
Ppfibp2 |
T |
A |
7: 107,308,012 (GRCm39) |
L215H |
probably damaging |
Het |
Rasa2 |
C |
T |
9: 96,426,913 (GRCm39) |
D752N |
probably damaging |
Het |
Spg11 |
T |
C |
2: 121,896,041 (GRCm39) |
K1726E |
probably damaging |
Het |
St6gal1 |
G |
A |
16: 23,175,142 (GRCm39) |
|
probably benign |
Het |
Tmem183a |
A |
G |
1: 134,277,882 (GRCm39) |
L294P |
probably damaging |
Het |
Trav19 |
T |
C |
14: 54,083,141 (GRCm39) |
L72P |
probably damaging |
Het |
Vapa |
T |
C |
17: 65,900,476 (GRCm39) |
T99A |
possibly damaging |
Het |
|
Other mutations in Ralgds |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2012-04-20 |