Incidental Mutation 'R5969:Ralgds'
| ID |
470724 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ralgds
|
| Ensembl Gene |
ENSMUSG00000026821 |
| Gene Name |
ral guanine nucleotide dissociation stimulator |
| Synonyms |
RalGDS, Rgds, Gnds |
| MMRRC Submission |
044152-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R5969 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
28403137-28443093 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28432426 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 85
(V85A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115092
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028170]
[ENSMUST00000100241]
[ENSMUST00000113893]
[ENSMUST00000135803]
|
| AlphaFold |
Q03385 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028170
AA Change: V85A
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000028170
Gene: ENSMUSG00000026821
AA Change: V85A
| 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: V140A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000097812
Gene: ENSMUSG00000026821
AA Change: V140A
| 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: V140A
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109526
Gene: ENSMUSG00000026821
AA Change: V140A
| 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 damaging
Transcript: ENSMUST00000135803
AA Change: V85A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000115092
Gene: ENSMUSG00000026821
AA Change: V85A
| Domain | Start | End | E-Value | Type |
|---|
|
RasGEFN
|
56 |
127 |
2.47e-3 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000137215
AA Change: V27A
|
| SMART Domains |
Protein: ENSMUSP00000116215
Gene: ENSMUSG00000026821
AA Change: V27A
| 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 |
0.4251 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.2%
|
| Validation Efficiency |
99% (67/68) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
C |
15: 102,258,999 (GRCm39) |
Y19D |
probably damaging |
Het |
| Abca13 |
T |
A |
11: 9,242,214 (GRCm39) |
L1359* |
probably null |
Het |
| Ahi1 |
A |
T |
10: 20,860,292 (GRCm39) |
D671V |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,993,949 (GRCm39) |
S5078P |
probably damaging |
Het |
| Ankhd1 |
A |
T |
18: 36,733,887 (GRCm39) |
T584S |
probably damaging |
Het |
| Apba2 |
T |
A |
7: 64,394,195 (GRCm39) |
L568* |
probably null |
Het |
| Cenpn |
C |
A |
8: 117,667,276 (GRCm39) |
L300I |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,226,052 (GRCm39) |
L3012Q |
possibly damaging |
Het |
| Cnnm1 |
T |
C |
19: 43,479,911 (GRCm39) |
S819P |
probably damaging |
Het |
| Cpa6 |
A |
T |
1: 10,559,108 (GRCm39) |
S87T |
probably benign |
Het |
| Crybg2 |
T |
A |
4: 133,803,003 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
T |
A |
8: 16,121,367 (GRCm39) |
T1777S |
probably benign |
Het |
| Csmd3 |
G |
T |
15: 47,811,386 (GRCm39) |
P1235Q |
probably damaging |
Het |
| Cxcr4 |
T |
A |
1: 128,517,584 (GRCm39) |
N24Y |
probably benign |
Het |
| D630003M21Rik |
G |
T |
2: 158,059,628 (GRCm39) |
H91N |
probably damaging |
Het |
| Ece1 |
T |
C |
4: 137,689,051 (GRCm39) |
|
probably null |
Het |
| Edc3 |
T |
C |
9: 57,620,711 (GRCm39) |
S11P |
probably damaging |
Het |
| Eif1ad14 |
T |
C |
12: 87,886,248 (GRCm39) |
D127G |
unknown |
Het |
| Exoc3 |
G |
A |
13: 74,320,305 (GRCm39) |
Q719* |
probably null |
Het |
| Fam13a |
A |
G |
6: 58,942,183 (GRCm39) |
M203T |
probably damaging |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Fhip2a |
C |
T |
19: 57,372,555 (GRCm39) |
R602* |
probably null |
Het |
| Fxyd2 |
T |
A |
9: 45,319,628 (GRCm39) |
I30N |
probably damaging |
Het |
| Gapt |
A |
G |
13: 110,490,480 (GRCm39) |
V61A |
probably benign |
Het |
| Glb1l2 |
C |
T |
9: 26,692,038 (GRCm39) |
A74T |
probably damaging |
Het |
| Gpr35 |
T |
C |
1: 92,910,942 (GRCm39) |
V2A |
probably damaging |
Het |
| Gtf3c1 |
A |
G |
7: 125,244,848 (GRCm39) |
S1729P |
possibly damaging |
Het |
| Heatr5a |
T |
C |
12: 52,005,823 (GRCm39) |
T51A |
probably benign |
Het |
| Kat6b |
G |
A |
14: 21,720,860 (GRCm39) |
M1737I |
probably damaging |
Het |
| Kif20a |
G |
A |
18: 34,765,468 (GRCm39) |
A822T |
probably benign |
Het |
| Klk10 |
A |
G |
7: 43,434,409 (GRCm39) |
Y267C |
probably damaging |
Het |
| Lgmn |
T |
C |
12: 102,372,086 (GRCm39) |
Y98C |
probably damaging |
Het |
| Lyst |
A |
C |
13: 13,862,398 (GRCm39) |
|
probably null |
Het |
| Man2a1 |
A |
G |
17: 64,932,375 (GRCm39) |
K154R |
probably benign |
Het |
| Mfng |
A |
T |
15: 78,648,582 (GRCm39) |
V165D |
possibly damaging |
Het |
| Mto1 |
A |
G |
9: 78,360,187 (GRCm39) |
E225G |
probably damaging |
Het |
| Notch3 |
C |
A |
17: 32,372,858 (GRCm39) |
C571F |
probably damaging |
Het |
| Nup205 |
C |
T |
6: 35,154,513 (GRCm39) |
|
probably benign |
Het |
| Or51b6 |
T |
A |
7: 103,556,117 (GRCm39) |
I157N |
probably damaging |
Het |
| P2ry14 |
T |
A |
3: 59,022,579 (GRCm39) |
I303F |
probably damaging |
Het |
| Pcnx3 |
T |
C |
19: 5,735,563 (GRCm39) |
D421G |
probably damaging |
Het |
| Pdlim4 |
T |
C |
11: 53,954,482 (GRCm39) |
H75R |
possibly damaging |
Het |
| Phf21a |
A |
T |
2: 92,051,956 (GRCm39) |
H17L |
probably damaging |
Het |
| Ppid |
T |
A |
3: 79,505,024 (GRCm39) |
N122K |
probably damaging |
Het |
| Ppp4r3a |
T |
C |
12: 101,009,838 (GRCm39) |
I613V |
probably benign |
Het |
| Prcp |
C |
T |
7: 92,566,974 (GRCm39) |
P229S |
probably benign |
Het |
| Rgs22 |
G |
A |
15: 36,015,782 (GRCm39) |
T1034I |
probably benign |
Het |
| Slc4a3 |
T |
C |
1: 75,526,623 (GRCm39) |
V48A |
probably damaging |
Het |
| Snx16 |
A |
T |
3: 10,503,217 (GRCm39) |
M10K |
possibly damaging |
Het |
| Svep1 |
G |
A |
4: 58,070,977 (GRCm39) |
Q2270* |
probably null |
Het |
| Tmem185b |
T |
G |
1: 119,455,193 (GRCm39) |
I318S |
probably benign |
Het |
| Tnik |
C |
T |
3: 28,675,097 (GRCm39) |
R657C |
probably damaging |
Het |
| Top3b |
T |
C |
16: 16,701,429 (GRCm39) |
|
probably null |
Het |
| Trim40 |
C |
T |
17: 37,193,319 (GRCm39) |
R203H |
probably benign |
Het |
| Triobp |
T |
A |
15: 78,851,740 (GRCm39) |
N631K |
probably benign |
Het |
| Ubr3 |
T |
G |
2: 69,809,730 (GRCm39) |
Y1233* |
probably null |
Het |
| Vgll3 |
A |
G |
16: 65,636,449 (GRCm39) |
D200G |
probably damaging |
Het |
| Vmn2r24 |
G |
A |
6: 123,755,981 (GRCm39) |
E18K |
probably benign |
Het |
| Zfp141 |
C |
A |
7: 42,138,912 (GRCm39) |
R40L |
probably 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 |
|
|
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'- AGCGTCCCTGAGAACATGAC -3'
(R):5'- GAGGTCCCCTCCTTTCTATGTAGG -3'
Sequencing Primer
(F):5'- TGAGAACATGACCCTGCTACTG -3'
(R):5'- CCACTTAACCTGAGGCTGAG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation