Incidental Mutation 'R6137:Ralgds'
| ID |
526348 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ralgds
|
| Ensembl Gene |
ENSMUSG00000026821 |
| Gene Name |
ral guanine nucleotide dissociation stimulator |
| Synonyms |
RalGDS, Rgds, Gnds |
| MMRRC Submission |
044284-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
R6137 (G1)
|
| Quality Score |
78.0075 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
28403137-28443093 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 28437600 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 514
(M514L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028170
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028170]
[ENSMUST00000100241]
[ENSMUST00000113893]
[ENSMUST00000135803]
[ENSMUST00000140704]
|
| AlphaFold |
Q03385 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028170
AA Change: M514L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000028170
Gene: ENSMUSG00000026821
AA Change: M514L
| 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 |
possibly damaging
Transcript: ENSMUST00000100241
AA Change: M569L
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000097812
Gene: ENSMUSG00000026821
AA Change: M569L
| 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: M557L
PolyPhen 2
Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000109526
Gene: ENSMUSG00000026821
AA Change: M557L
| 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 |
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: ENSMUST00000146217
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137513
|
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
98% (58/59) |
| 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 |
|---|
| 2310057M21Rik |
G |
T |
7: 130,959,342 (GRCm39) |
H165Q |
probably damaging |
Het |
| Akap13 |
T |
A |
7: 75,327,164 (GRCm39) |
F721Y |
probably damaging |
Het |
| Akap6 |
A |
T |
12: 53,187,137 (GRCm39) |
D1517V |
probably damaging |
Het |
| Amigo3 |
T |
A |
9: 107,930,927 (GRCm39) |
S117T |
probably damaging |
Het |
| Atf7ip2 |
T |
A |
16: 10,019,275 (GRCm39) |
N34K |
probably damaging |
Het |
| Cacnb1 |
A |
C |
11: 97,896,608 (GRCm39) |
V351G |
probably damaging |
Het |
| Casp9 |
T |
A |
4: 141,532,660 (GRCm39) |
|
probably null |
Het |
| Ccdc51 |
C |
T |
9: 108,918,483 (GRCm39) |
T24I |
probably benign |
Het |
| Cdh23 |
T |
A |
10: 60,270,291 (GRCm39) |
Y618F |
probably damaging |
Het |
| Chd1 |
T |
A |
17: 15,978,950 (GRCm39) |
W1271R |
probably damaging |
Het |
| Dars1 |
T |
C |
1: 128,296,176 (GRCm39) |
T386A |
probably benign |
Het |
| Dchs1 |
T |
A |
7: 105,414,313 (GRCm39) |
D834V |
probably damaging |
Het |
| Dgkd |
T |
A |
1: 87,864,103 (GRCm39) |
V933E |
possibly damaging |
Het |
| Dnah17 |
A |
G |
11: 117,916,480 (GRCm39) |
F4203S |
probably damaging |
Het |
| Fancm |
T |
C |
12: 65,177,156 (GRCm39) |
L2000P |
probably damaging |
Het |
| Fbxo11 |
A |
T |
17: 88,316,097 (GRCm39) |
H444Q |
probably benign |
Het |
| Fbxw14 |
T |
A |
9: 109,105,290 (GRCm39) |
T292S |
probably damaging |
Het |
| Fer1l6 |
T |
C |
15: 58,431,055 (GRCm39) |
S237P |
probably damaging |
Het |
| Frem3 |
T |
C |
8: 81,341,676 (GRCm39) |
I1323T |
probably benign |
Het |
| Grin2a |
A |
G |
16: 9,471,313 (GRCm39) |
F652L |
probably benign |
Het |
| Grin2b |
T |
A |
6: 135,900,456 (GRCm39) |
M142L |
possibly damaging |
Het |
| Helz |
A |
G |
11: 107,509,886 (GRCm39) |
Q503R |
possibly damaging |
Het |
| Ighv5-17 |
A |
G |
12: 113,822,915 (GRCm39) |
Y69H |
probably benign |
Het |
| Il17ra |
A |
G |
6: 120,452,543 (GRCm39) |
N242S |
probably benign |
Het |
| Immp1l |
G |
C |
2: 105,794,553 (GRCm39) |
G117A |
probably damaging |
Het |
| Itm2c |
T |
C |
1: 85,822,413 (GRCm39) |
V10A |
probably benign |
Het |
| Kif1b |
T |
C |
4: 149,322,883 (GRCm39) |
K679E |
possibly damaging |
Het |
| Kng1 |
T |
C |
16: 22,893,395 (GRCm39) |
V256A |
possibly damaging |
Het |
| Lamc2 |
T |
G |
1: 153,041,899 (GRCm39) |
R78S |
possibly damaging |
Het |
| Loxl4 |
A |
G |
19: 42,587,232 (GRCm39) |
F621S |
probably damaging |
Het |
| Lpl |
T |
A |
8: 69,345,399 (GRCm39) |
D134E |
probably damaging |
Het |
| Lypd3 |
T |
C |
7: 24,339,919 (GRCm39) |
Y329H |
probably benign |
Het |
| Mettl13 |
T |
C |
1: 162,363,455 (GRCm39) |
D225G |
probably benign |
Het |
| Myo7b |
A |
G |
18: 32,133,027 (GRCm39) |
F441L |
probably damaging |
Het |
| Nnt |
T |
A |
13: 119,472,864 (GRCm39) |
M699L |
possibly damaging |
Het |
| Nr1h3 |
A |
T |
2: 91,022,196 (GRCm39) |
M144K |
probably damaging |
Het |
| Or2t46 |
A |
T |
11: 58,471,894 (GRCm39) |
M75L |
probably benign |
Het |
| Or5al6 |
A |
G |
2: 85,976,313 (GRCm39) |
V255A |
probably benign |
Het |
| Or6z6 |
T |
C |
7: 6,491,844 (GRCm39) |
T3A |
probably benign |
Het |
| Pappa2 |
A |
T |
1: 158,699,113 (GRCm39) |
Y667N |
probably damaging |
Het |
| Prps1l3 |
A |
G |
12: 57,285,674 (GRCm39) |
I155V |
probably benign |
Het |
| Ptgs2 |
T |
A |
1: 149,976,744 (GRCm39) |
N24K |
probably benign |
Het |
| Rbm47 |
G |
C |
5: 66,183,626 (GRCm39) |
R326G |
probably damaging |
Het |
| Sacm1l |
T |
A |
9: 123,398,070 (GRCm39) |
V254D |
probably damaging |
Het |
| Selenot |
A |
T |
3: 58,492,705 (GRCm39) |
Q64L |
probably damaging |
Het |
| Sgsm2 |
G |
A |
11: 74,741,677 (GRCm39) |
R1037W |
probably damaging |
Het |
| Slc22a12 |
A |
G |
19: 6,592,754 (GRCm39) |
V10A |
probably benign |
Het |
| Spem2 |
G |
T |
11: 69,707,522 (GRCm39) |
S481* |
probably null |
Het |
| Styk1 |
C |
T |
6: 131,287,979 (GRCm39) |
G128D |
probably damaging |
Het |
| Tex54 |
A |
T |
19: 8,718,148 (GRCm39) |
D6V |
probably damaging |
Het |
| Tmc6 |
A |
T |
11: 117,667,154 (GRCm39) |
L148Q |
probably damaging |
Het |
| Tmem138 |
A |
C |
19: 10,552,199 (GRCm39) |
|
probably null |
Het |
| Tnpo3 |
A |
G |
6: 29,555,267 (GRCm39) |
V772A |
probably benign |
Het |
| Topaz1 |
T |
C |
9: 122,626,821 (GRCm39) |
F1483S |
possibly damaging |
Het |
| Tuba4a |
C |
A |
1: 75,192,699 (GRCm39) |
C305F |
probably damaging |
Het |
| Ubap1 |
T |
G |
4: 41,379,262 (GRCm39) |
F159V |
possibly damaging |
Het |
| Vmn2r9 |
A |
G |
5: 108,996,882 (GRCm39) |
I129T |
probably benign |
Het |
| Wwc2 |
A |
T |
8: 48,309,298 (GRCm39) |
M828K |
unknown |
Het |
| Zfp236 |
A |
T |
18: 82,689,919 (GRCm39) |
S187T |
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 |
|
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 |
|
|
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'- AGCAAAGGTTCTTGAGCTGC -3'
(R):5'- CCACATGCTGTCTGACCTTG -3'
Sequencing Primer
(F):5'- CAAAGGTTCTTGAGCTGCTCTAAG -3'
(R):5'- ATGCATGTCTAGTTTGGCCAAC -3'
|
| Posted On |
2018-06-25 |
Incidental Mutation