Incidental Mutation 'R5738:Ralgds'
ID |
444605 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ralgds
|
Ensembl Gene |
ENSMUSG00000026821 |
Gene Name |
ral guanine nucleotide dissociation stimulator |
Synonyms |
RalGDS, Rgds, Gnds |
MMRRC Submission |
043350-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.148)
|
Stock # |
R5738 (G1)
|
Quality Score |
215 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
28403137-28443093 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
G to A
at 28432538 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028170]
[ENSMUST00000100241]
[ENSMUST00000113893]
[ENSMUST00000135803]
|
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 |
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: ENSMUST00000137513
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146217
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
98% (52/53) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,571,917 (GRCm39) |
D4826V |
probably damaging |
Het |
Acoxl |
G |
A |
2: 127,719,686 (GRCm39) |
C149Y |
probably benign |
Het |
Adamts3 |
G |
T |
5: 89,856,527 (GRCm39) |
H349N |
probably damaging |
Het |
Ap2b1 |
A |
G |
11: 83,227,256 (GRCm39) |
|
probably null |
Het |
Ap3m2 |
T |
C |
8: 23,293,877 (GRCm39) |
S58G |
possibly damaging |
Het |
Bhmt2 |
A |
T |
13: 93,799,798 (GRCm39) |
W213R |
probably benign |
Het |
Cacna1h |
T |
G |
17: 25,606,023 (GRCm39) |
D1092A |
probably damaging |
Het |
Cbfb |
A |
C |
8: 105,929,193 (GRCm39) |
Q170P |
probably damaging |
Het |
Ccdc73 |
A |
C |
2: 104,761,331 (GRCm39) |
K110N |
possibly damaging |
Het |
Cep350 |
C |
A |
1: 155,741,824 (GRCm39) |
R2149L |
probably damaging |
Het |
Cog2 |
A |
G |
8: 125,272,777 (GRCm39) |
T525A |
probably benign |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Fbxl5 |
A |
G |
5: 43,920,170 (GRCm39) |
I251T |
probably benign |
Het |
Fscn3 |
A |
G |
6: 28,430,030 (GRCm39) |
K67E |
possibly damaging |
Het |
Glmp |
T |
A |
3: 88,233,445 (GRCm39) |
N133K |
probably benign |
Het |
Gpr179 |
T |
C |
11: 97,242,232 (GRCm39) |
N204S |
probably damaging |
Het |
Gtf2ird1 |
C |
T |
5: 134,412,672 (GRCm39) |
R613Q |
probably damaging |
Het |
Hepacam |
A |
G |
9: 37,294,721 (GRCm39) |
D285G |
possibly damaging |
Het |
Hipk4 |
G |
A |
7: 27,227,841 (GRCm39) |
V196M |
probably damaging |
Het |
Hlx |
A |
T |
1: 184,463,754 (GRCm39) |
|
probably null |
Het |
Igf2r |
A |
T |
17: 12,936,254 (GRCm39) |
D597E |
probably benign |
Het |
Ighm |
T |
C |
12: 113,385,115 (GRCm39) |
T282A |
unknown |
Het |
Igsf9b |
T |
C |
9: 27,239,826 (GRCm39) |
C624R |
probably damaging |
Het |
Ksr2 |
T |
C |
5: 117,886,864 (GRCm39) |
V800A |
probably damaging |
Het |
Lyn |
A |
T |
4: 3,782,987 (GRCm39) |
I386F |
probably damaging |
Het |
Melk |
A |
G |
4: 44,310,333 (GRCm39) |
D102G |
probably damaging |
Het |
Mettl1 |
G |
T |
10: 126,877,863 (GRCm39) |
E4* |
probably null |
Het |
Mybl2 |
C |
T |
2: 162,910,203 (GRCm39) |
Q210* |
probably null |
Het |
Naga |
C |
T |
15: 82,219,054 (GRCm39) |
W231* |
probably null |
Het |
Or2y3 |
T |
C |
17: 38,393,347 (GRCm39) |
Y174C |
probably damaging |
Het |
Or4k2 |
C |
T |
14: 50,424,105 (GRCm39) |
V190I |
probably benign |
Het |
Or7g16 |
T |
C |
9: 18,727,125 (GRCm39) |
N155S |
possibly damaging |
Het |
Otud4 |
T |
C |
8: 80,400,090 (GRCm39) |
S935P |
probably benign |
Het |
P2rx7 |
C |
T |
5: 122,790,852 (GRCm39) |
T63I |
probably damaging |
Het |
Pga5 |
A |
T |
19: 10,647,024 (GRCm39) |
N260K |
probably benign |
Het |
Phka2 |
ACC |
AC |
X: 159,342,862 (GRCm39) |
|
probably null |
Het |
Plch1 |
T |
A |
3: 63,681,076 (GRCm39) |
R184W |
probably damaging |
Het |
Ppm1b |
T |
C |
17: 85,301,374 (GRCm39) |
F85L |
probably benign |
Het |
Prtg |
T |
A |
9: 72,819,288 (GRCm39) |
F1094I |
probably benign |
Het |
Rgs17 |
A |
C |
10: 5,783,140 (GRCm39) |
V149G |
probably damaging |
Het |
Rnf168 |
A |
G |
16: 32,101,192 (GRCm39) |
E124G |
probably damaging |
Het |
Sav1 |
T |
C |
12: 70,022,817 (GRCm39) |
E245G |
possibly damaging |
Het |
Slc25a19 |
T |
C |
11: 115,515,060 (GRCm39) |
I33V |
probably benign |
Het |
Sptbn1 |
T |
C |
11: 30,095,941 (GRCm39) |
I318V |
probably damaging |
Het |
Tas2r136 |
A |
G |
6: 132,754,707 (GRCm39) |
L140P |
probably damaging |
Het |
Tbc1d9 |
A |
G |
8: 83,997,655 (GRCm39) |
I1071V |
probably benign |
Het |
Tecta |
G |
T |
9: 42,284,474 (GRCm39) |
N870K |
possibly damaging |
Het |
Tmem230 |
G |
A |
2: 132,086,048 (GRCm39) |
P38L |
possibly damaging |
Het |
Trpa1 |
G |
T |
1: 14,946,174 (GRCm39) |
H986N |
probably damaging |
Het |
Wdr41 |
A |
T |
13: 95,114,996 (GRCm39) |
I24L |
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 |
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'- GGCTCTGAACCTCTATGAGACC -3'
(R):5'- GAGGTCTCTCAGTCGATTACC -3'
Sequencing Primer
(F):5'- TGAACCTCTATGAGACCTGCAAGG -3'
(R):5'- TCTCAGTCGATTACCACAGGG -3'
|
Posted On |
2016-11-21 |