Incidental Mutation 'R8384:Ralgds'
| ID |
647063 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ralgds
|
| Ensembl Gene |
ENSMUSG00000026821 |
| Gene Name |
ral guanine nucleotide dissociation stimulator |
| Synonyms |
RalGDS, Rgds, Gnds |
| MMRRC Submission |
067750-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R8384 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
28403137-28443093 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 28437182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 534
(A534S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097812
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028170]
[ENSMUST00000100241]
[ENSMUST00000113893]
[ENSMUST00000135803]
[ENSMUST00000140704]
|
| AlphaFold |
Q03385 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028170
AA Change: A479S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028170
Gene: ENSMUSG00000026821
AA Change: A479S
| 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: A534S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000097812
Gene: ENSMUSG00000026821
AA Change: A534S
| 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 |
possibly damaging
Transcript: ENSMUST00000113893
AA Change: A522S
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109526
Gene: ENSMUSG00000026821
AA Change: A522S
| 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 |
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 |
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
T |
C |
11: 72,057,591 (GRCm39) |
D736G |
probably benign |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Col6a6 |
C |
T |
9: 105,632,893 (GRCm39) |
G1457D |
probably damaging |
Het |
| Colec11 |
A |
T |
12: 28,644,658 (GRCm39) |
*279R |
probably null |
Het |
| Ctnnbl1 |
A |
T |
2: 157,659,980 (GRCm39) |
E278V |
probably benign |
Het |
| Cyp24a1 |
A |
G |
2: 170,328,689 (GRCm39) |
|
probably null |
Het |
| Dpp6 |
A |
T |
5: 27,923,472 (GRCm39) |
Y694F |
probably benign |
Het |
| Eif5 |
A |
G |
12: 111,506,239 (GRCm39) |
E26G |
possibly damaging |
Het |
| Fhdc1 |
T |
C |
3: 84,362,306 (GRCm39) |
I305V |
possibly damaging |
Het |
| Flvcr2 |
T |
C |
12: 85,842,967 (GRCm39) |
F347S |
possibly damaging |
Het |
| Hacl1 |
A |
G |
14: 31,356,154 (GRCm39) |
|
probably null |
Het |
| Hells |
A |
G |
19: 38,947,566 (GRCm39) |
T667A |
probably benign |
Het |
| Idua |
A |
G |
5: 108,829,305 (GRCm39) |
T416A |
possibly damaging |
Het |
| Lfng |
G |
A |
5: 140,598,981 (GRCm39) |
E297K |
probably damaging |
Het |
| Lnx2 |
G |
A |
5: 146,966,138 (GRCm39) |
A327V |
probably benign |
Het |
| Macir |
A |
G |
1: 97,573,655 (GRCm39) |
C137R |
possibly damaging |
Het |
| Mdn1 |
T |
C |
4: 32,765,680 (GRCm39) |
V5220A |
probably benign |
Het |
| Mpst |
T |
A |
15: 78,297,775 (GRCm39) |
C264* |
probably null |
Het |
| Msh5 |
A |
G |
17: 35,249,613 (GRCm39) |
L644P |
probably damaging |
Het |
| Myo5b |
A |
G |
18: 74,875,273 (GRCm39) |
Y1533C |
probably damaging |
Het |
| Naa38 |
A |
G |
11: 69,286,752 (GRCm39) |
E12G |
probably benign |
Het |
| Obscn |
C |
A |
11: 58,975,935 (GRCm39) |
C2064F |
probably damaging |
Het |
| Or5p51 |
A |
T |
7: 107,444,465 (GRCm39) |
N158K |
possibly damaging |
Het |
| Or6c6 |
A |
T |
10: 129,186,695 (GRCm39) |
K88* |
probably null |
Het |
| Pam16l |
A |
T |
10: 43,400,347 (GRCm39) |
I34F |
probably damaging |
Het |
| Rgs22 |
A |
T |
15: 36,046,158 (GRCm39) |
|
probably null |
Het |
| Serpinb3c |
T |
C |
1: 107,199,697 (GRCm39) |
T275A |
probably benign |
Het |
| Slc7a13 |
T |
C |
4: 19,823,984 (GRCm39) |
V251A |
probably damaging |
Het |
| Snx14 |
C |
A |
9: 88,285,333 (GRCm39) |
E444* |
probably null |
Het |
| Sspo |
G |
T |
6: 48,459,598 (GRCm39) |
W3319L |
probably damaging |
Het |
| Ugt2b5 |
A |
G |
5: 87,287,924 (GRCm39) |
V81A |
probably benign |
Het |
| Usp6nl |
A |
G |
2: 6,432,604 (GRCm39) |
I326V |
possibly damaging |
Het |
| Zcchc17 |
T |
C |
4: 130,210,526 (GRCm39) |
K214E |
possibly damaging |
Het |
| Zfp638 |
C |
A |
6: 83,956,747 (GRCm39) |
H1785N |
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 |
|
|
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 |
|
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'- TGTCCCCGGGAACTTTGAAG -3'
(R):5'- ATACCCTTCCCAAAGAGCTCTG -3'
Sequencing Primer
(F):5'- ACTTTGAAGGTGAGGTGCAC -3'
(R):5'- TTCCCAAAGAGCTCTGCCACG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation