Incidental Mutation 'R6618:Ralgds'
| ID |
524195 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ralgds
|
| Ensembl Gene |
ENSMUSG00000026821 |
| Gene Name |
ral guanine nucleotide dissociation stimulator |
| Synonyms |
RalGDS, Rgds, Gnds |
| MMRRC Submission |
044741-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R6618 (G1)
|
| Quality Score |
182.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
28403137-28443093 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 28440523 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 777
(D777E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028170
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028170]
[ENSMUST00000100241]
[ENSMUST00000113893]
[ENSMUST00000140704]
|
| AlphaFold |
Q03385 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028170
AA Change: D777E
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000028170
Gene: ENSMUSG00000026821
AA Change: D777E
| 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
AA Change: D832E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000097812
Gene: ENSMUSG00000026821
AA Change: D832E
| 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: D820E
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000109526
Gene: ENSMUSG00000026821
AA Change: D820E
| 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 benign
Transcript: ENSMUST00000140704
AA Change: D77E
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000118966
Gene: ENSMUSG00000026821
AA Change: D77E
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.4%
|
| Validation Efficiency |
100% (37/37) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp1b2 |
T |
C |
11: 69,494,289 (GRCm39) |
D68G |
probably damaging |
Het |
| Barx2 |
G |
A |
9: 31,758,168 (GRCm39) |
L257F |
probably benign |
Het |
| Bbx |
C |
G |
16: 50,086,626 (GRCm39) |
W90S |
probably damaging |
Het |
| Bmp1 |
T |
A |
14: 70,728,808 (GRCm39) |
D588V |
probably damaging |
Het |
| Caskin2 |
C |
T |
11: 115,690,855 (GRCm39) |
M1188I |
possibly damaging |
Het |
| Ccdc180 |
T |
A |
4: 45,950,708 (GRCm39) |
I1651N |
probably damaging |
Het |
| Cimip2a |
C |
A |
2: 25,110,635 (GRCm39) |
L148M |
probably benign |
Het |
| Cr2 |
T |
C |
1: 194,839,687 (GRCm39) |
D580G |
probably damaging |
Het |
| Crebbp |
C |
T |
16: 3,937,670 (GRCm39) |
A698T |
possibly damaging |
Het |
| Fam204a |
T |
C |
19: 60,209,069 (GRCm39) |
|
probably null |
Het |
| Fam83h |
T |
C |
15: 75,875,360 (GRCm39) |
D659G |
probably damaging |
Het |
| Garin3 |
A |
G |
11: 46,298,126 (GRCm39) |
T477A |
probably damaging |
Het |
| Hells |
G |
T |
19: 38,945,528 (GRCm39) |
R589L |
probably benign |
Het |
| Helz |
A |
G |
11: 107,489,976 (GRCm39) |
T144A |
probably benign |
Het |
| Il1r1 |
T |
A |
1: 40,339,971 (GRCm39) |
V258D |
probably damaging |
Het |
| Isoc2a |
A |
T |
7: 4,898,325 (GRCm39) |
I183F |
probably benign |
Het |
| Kat2a |
G |
T |
11: 100,603,196 (GRCm39) |
|
probably benign |
Het |
| Klf9 |
A |
G |
19: 23,142,235 (GRCm39) |
M232V |
probably benign |
Het |
| Lars1 |
G |
T |
18: 42,377,973 (GRCm39) |
S147R |
possibly damaging |
Het |
| Mkrn3 |
A |
G |
7: 62,068,781 (GRCm39) |
F337L |
probably benign |
Het |
| Mrc2 |
A |
T |
11: 105,240,708 (GRCm39) |
N1466I |
probably damaging |
Het |
| Myo5c |
G |
A |
9: 75,182,919 (GRCm39) |
|
probably null |
Het |
| Pigs |
T |
C |
11: 78,232,056 (GRCm39) |
L396P |
probably damaging |
Het |
| Prkcb |
G |
A |
7: 122,226,886 (GRCm39) |
R624Q |
probably benign |
Het |
| R3hdm1 |
T |
C |
1: 128,121,302 (GRCm39) |
S269P |
probably benign |
Het |
| Racgap1 |
A |
T |
15: 99,521,875 (GRCm39) |
I505K |
probably damaging |
Het |
| Rdh14 |
A |
G |
12: 10,445,123 (GRCm39) |
I325V |
probably benign |
Het |
| Rpn2 |
T |
A |
2: 157,163,781 (GRCm39) |
H624Q |
probably benign |
Het |
| Scarb1 |
C |
T |
5: 125,381,394 (GRCm39) |
S50N |
probably damaging |
Het |
| Shmt1 |
T |
C |
11: 60,683,772 (GRCm39) |
|
probably null |
Het |
| Slc49a3 |
G |
T |
5: 108,590,964 (GRCm39) |
T400K |
probably benign |
Het |
| Smim24 |
A |
G |
10: 81,229,966 (GRCm39) |
N27S |
possibly damaging |
Het |
| Snx13 |
A |
G |
12: 35,162,444 (GRCm39) |
D550G |
probably damaging |
Het |
| Tnfsf18 |
T |
A |
1: 161,322,349 (GRCm39) |
L23* |
probably null |
Het |
| Trpc3 |
T |
A |
3: 36,694,844 (GRCm39) |
K703N |
possibly damaging |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Zfy2 |
A |
G |
Y: 2,121,477 (GRCm39) |
S139P |
probably benign |
Homo |
|
| 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 |
|
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 |
|
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'- TTGCTTCAGGGGCACATAG -3'
(R):5'- AGCATTCTTCCTGAAGTACCTGC -3'
Sequencing Primer
(F):5'- TAGCTCCCCAAGACCATGTGG -3'
(R):5'- AACCAGGCAATGTCCTCTCTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation