Incidental Mutation 'R6014:Ralgds'
| ID |
502015 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ralgds
|
| Ensembl Gene |
ENSMUSG00000026821 |
| Gene Name |
ral guanine nucleotide dissociation stimulator |
| Synonyms |
RalGDS, Rgds, Gnds |
| MMRRC Submission |
044190-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R6014 (G1)
|
| Quality Score |
71.0074 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
28403137-28443093 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28433673 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 219
(N219S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109526
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028170]
[ENSMUST00000100241]
[ENSMUST00000113893]
[ENSMUST00000135803]
|
| AlphaFold |
Q03385 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028170
AA Change: N176S
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000028170
Gene: ENSMUSG00000026821
AA Change: N176S
| 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: N231S
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000097812
Gene: ENSMUSG00000026821
AA Change: N231S
| 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: N219S
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000109526
Gene: ENSMUSG00000026821
AA Change: N219S
| 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: ENSMUST00000135803
|
| SMART Domains |
Protein: ENSMUSP00000115092
Gene: ENSMUSG00000026821
| Domain | Start | End | E-Value | Type |
|---|
|
RasGEFN
|
56 |
127 |
2.47e-3 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000137215
AA Change: T78A
|
| SMART Domains |
Protein: ENSMUSP00000116215
Gene: ENSMUSG00000026821
AA Change: T78A
| 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
|
| Meta Mutation Damage Score |
0.0692 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
100% (67/67) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
A |
T |
2: 35,244,881 (GRCm39) |
M157K |
probably benign |
Het |
| A2ml1 |
C |
T |
6: 128,548,948 (GRCm39) |
C278Y |
probably damaging |
Het |
| Abcc2 |
A |
T |
19: 43,815,174 (GRCm39) |
Q1187L |
probably benign |
Het |
| Adcy9 |
A |
T |
16: 4,236,683 (GRCm39) |
Y6N |
probably damaging |
Het |
| Adh1 |
T |
C |
3: 137,992,559 (GRCm39) |
I225T |
probably benign |
Het |
| Akap11 |
A |
T |
14: 78,749,939 (GRCm39) |
I816K |
probably benign |
Het |
| Ap1b1 |
T |
A |
11: 4,969,364 (GRCm39) |
M240K |
possibly damaging |
Het |
| Apex1 |
A |
T |
14: 51,162,982 (GRCm39) |
T17S |
probably benign |
Het |
| Arhgap21 |
C |
T |
2: 20,886,616 (GRCm39) |
G26D |
probably damaging |
Het |
| Bahcc1 |
A |
G |
11: 120,180,615 (GRCm39) |
Y2613C |
probably benign |
Het |
| Baz1b |
C |
T |
5: 135,246,248 (GRCm39) |
R566W |
probably damaging |
Het |
| Casp8ap2 |
A |
T |
4: 32,641,400 (GRCm39) |
Y818F |
probably damaging |
Het |
| Col3a1 |
T |
A |
1: 45,360,739 (GRCm39) |
C56* |
probably null |
Het |
| Coro2a |
G |
A |
4: 46,542,261 (GRCm39) |
P371S |
probably damaging |
Het |
| Cyp2a22 |
T |
A |
7: 26,638,605 (GRCm39) |
|
probably null |
Het |
| Dpysl3 |
T |
A |
18: 43,494,132 (GRCm39) |
I183F |
probably damaging |
Het |
| Drc1 |
A |
T |
5: 30,502,993 (GRCm39) |
N172I |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,303,915 (GRCm39) |
Y1378H |
probably damaging |
Het |
| Dync2i2 |
C |
T |
2: 29,921,763 (GRCm39) |
A533T |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Epb41l3 |
A |
T |
17: 69,590,955 (GRCm39) |
T91S |
probably damaging |
Het |
| Exoc4 |
T |
C |
6: 33,452,932 (GRCm39) |
V474A |
probably benign |
Het |
| Fam229b |
G |
A |
10: 38,994,989 (GRCm39) |
T56I |
probably damaging |
Het |
| Gfm2 |
A |
G |
13: 97,288,169 (GRCm39) |
|
probably null |
Het |
| Git2 |
C |
T |
5: 114,871,938 (GRCm39) |
E152K |
probably benign |
Het |
| Golt1b |
T |
A |
6: 142,341,943 (GRCm39) |
I109N |
probably damaging |
Het |
| Grid2ip |
T |
A |
5: 143,373,578 (GRCm39) |
M783K |
possibly damaging |
Het |
| Inpp5a |
A |
G |
7: 139,154,898 (GRCm39) |
Y339C |
probably damaging |
Het |
| Isoc2a |
T |
C |
7: 4,894,625 (GRCm39) |
S103P |
probably damaging |
Het |
| Itih4 |
C |
A |
14: 30,614,586 (GRCm39) |
Q483K |
probably benign |
Het |
| Kansl2 |
A |
G |
15: 98,418,197 (GRCm39) |
|
probably null |
Het |
| Kdm5d |
G |
A |
Y: 921,528 (GRCm39) |
A509T |
probably benign |
Het |
| Krt13 |
A |
T |
11: 100,008,437 (GRCm39) |
D433E |
unknown |
Het |
| Lat2 |
C |
T |
5: 134,632,308 (GRCm39) |
V142M |
probably damaging |
Het |
| Lemd1 |
A |
C |
1: 132,184,463 (GRCm39) |
*102S |
probably null |
Het |
| Lrfn2 |
T |
C |
17: 49,376,934 (GRCm39) |
L5P |
possibly damaging |
Het |
| Lrrc4c |
T |
G |
2: 97,459,557 (GRCm39) |
|
probably null |
Het |
| Lypla1 |
T |
A |
1: 4,878,594 (GRCm39) |
|
probably null |
Het |
| Magi2 |
G |
A |
5: 20,816,091 (GRCm39) |
G744R |
probably damaging |
Het |
| Myh14 |
T |
A |
7: 44,274,502 (GRCm39) |
E948V |
probably null |
Het |
| Myo5a |
C |
A |
9: 75,074,489 (GRCm39) |
Y799* |
probably null |
Het |
| Nacc1 |
A |
C |
8: 85,401,700 (GRCm39) |
M371R |
possibly damaging |
Het |
| Nlrp5 |
T |
G |
7: 23,109,372 (GRCm39) |
M106R |
probably benign |
Het |
| Oas1h |
C |
T |
5: 121,005,229 (GRCm39) |
H226Y |
possibly damaging |
Het |
| Obscn |
A |
C |
11: 58,929,690 (GRCm39) |
I5175R |
probably damaging |
Het |
| Pcdh7 |
T |
A |
5: 57,878,497 (GRCm39) |
I684N |
probably damaging |
Het |
| Pcdhb3 |
T |
A |
18: 37,435,706 (GRCm39) |
N557K |
probably damaging |
Het |
| Pde3b |
T |
C |
7: 114,015,675 (GRCm39) |
L297S |
probably damaging |
Het |
| Pigv |
G |
T |
4: 133,392,740 (GRCm39) |
H143Q |
probably benign |
Het |
| Ptk2 |
T |
G |
15: 73,176,293 (GRCm39) |
Y251S |
possibly damaging |
Het |
| Sardh |
C |
A |
2: 27,087,540 (GRCm39) |
|
probably null |
Het |
| Serpina3b |
A |
T |
12: 104,097,356 (GRCm39) |
K212N |
possibly damaging |
Het |
| Sh3bp2 |
A |
G |
5: 34,716,971 (GRCm39) |
N461D |
probably benign |
Het |
| Shisa2 |
A |
T |
14: 59,867,357 (GRCm39) |
Q203L |
probably damaging |
Het |
| Shmt1 |
C |
A |
11: 60,688,383 (GRCm39) |
G255V |
probably damaging |
Het |
| Socs1 |
T |
A |
16: 10,602,357 (GRCm39) |
I127F |
possibly damaging |
Het |
| Srcap |
A |
T |
7: 127,137,922 (GRCm39) |
T1091S |
probably benign |
Het |
| Syt14 |
A |
G |
1: 192,613,003 (GRCm39) |
I599T |
probably damaging |
Het |
| Tep1 |
A |
T |
14: 51,084,457 (GRCm39) |
N907K |
probably benign |
Het |
| Themis2 |
A |
G |
4: 132,513,291 (GRCm39) |
Y312H |
probably benign |
Het |
| Tubgcp5 |
T |
G |
7: 55,473,357 (GRCm39) |
S812A |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,582,237 (GRCm39) |
I3767F |
probably damaging |
Het |
| Usp40 |
T |
A |
1: 87,907,738 (GRCm39) |
E626V |
probably damaging |
Het |
| Utrn |
T |
C |
10: 12,566,620 (GRCm39) |
R1181G |
probably benign |
Het |
| Vmn2r117 |
T |
A |
17: 23,698,535 (GRCm39) |
I13F |
probably damaging |
Het |
| Wdr48 |
G |
T |
9: 119,753,775 (GRCm39) |
V646F |
probably damaging |
Het |
| Wdr64 |
T |
C |
1: 175,633,556 (GRCm39) |
F936L |
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 |
|
R5738:Ralgds
|
UTSW |
2 |
28,432,538 (GRCm39) |
intron |
probably benign |
|
|
R5969:Ralgds
|
UTSW |
2 |
28,432,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CTGTCTAGTTACTTGGACAGCC -3'
(R):5'- CAAGATGGTATCCCAGACTCTG -3'
Sequencing Primer
(F):5'- ACTTGTGGGTGGAGGCACAC -3'
(R):5'- GGTGTACTACCTACTGGGCC -3'
|
| Posted On |
2018-02-19 |
Incidental Mutation