Incidental Mutation 'R5320:Ralgds'
| ID |
406027 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ralgds
|
| Ensembl Gene |
ENSMUSG00000026821 |
| Gene Name |
ral guanine nucleotide dissociation stimulator |
| Synonyms |
RalGDS, Rgds, Gnds |
| MMRRC Submission |
042903-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
R5320 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
28403137-28443093 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28435224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 405
(I405T)
|
| 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: I405T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028170
Gene: ENSMUSG00000026821
AA Change: I405T
| 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: I460T
PolyPhen 2
Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000097812
Gene: ENSMUSG00000026821
AA Change: I460T
| 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: I448T
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000109526
Gene: ENSMUSG00000026821
AA Change: I448T
| 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: ENSMUST00000137513
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146217
|
| 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: 99.4%
- 3x: 98.9%
- 10x: 97.8%
- 20x: 96.4%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
T |
17: 24,526,541 (GRCm39) |
I581N |
probably damaging |
Het |
| Abcb10 |
A |
G |
8: 124,697,763 (GRCm39) |
F187S |
probably benign |
Het |
| Actl11 |
T |
A |
9: 107,808,203 (GRCm39) |
V842E |
possibly damaging |
Het |
| Akap12 |
A |
G |
10: 4,307,291 (GRCm39) |
D1367G |
probably benign |
Het |
| Aoc1l1 |
T |
A |
6: 48,952,474 (GRCm39) |
L133Q |
probably damaging |
Het |
| Aoc1l3 |
T |
A |
6: 48,964,509 (GRCm39) |
F172L |
probably benign |
Het |
| AU040320 |
A |
T |
4: 126,717,509 (GRCm39) |
H362L |
possibly damaging |
Het |
| Bmpr1a |
C |
T |
14: 34,146,999 (GRCm39) |
V258M |
probably damaging |
Het |
| Bptf |
T |
A |
11: 106,972,193 (GRCm39) |
K892* |
probably null |
Het |
| Cap2 |
A |
G |
13: 46,801,840 (GRCm39) |
*422W |
probably null |
Het |
| Cars2 |
G |
T |
8: 11,567,854 (GRCm39) |
H414N |
probably benign |
Het |
| Ccnt1 |
A |
C |
15: 98,442,124 (GRCm39) |
S381R |
probably benign |
Het |
| Cdyl2 |
A |
T |
8: 117,321,794 (GRCm39) |
C244* |
probably null |
Het |
| Cers2 |
A |
G |
3: 95,228,305 (GRCm39) |
E115G |
probably null |
Het |
| Cpt1b |
G |
A |
15: 89,303,477 (GRCm39) |
P553S |
probably benign |
Het |
| Cuedc1 |
A |
G |
11: 88,068,136 (GRCm39) |
E128G |
probably damaging |
Het |
| Dll4 |
T |
A |
2: 119,156,968 (GRCm39) |
V80D |
probably damaging |
Het |
| Dop1b |
T |
C |
16: 93,536,874 (GRCm39) |
L113P |
probably damaging |
Het |
| Fam98a |
A |
G |
17: 75,845,810 (GRCm39) |
I312T |
probably damaging |
Het |
| Gnrhr |
T |
G |
5: 86,345,473 (GRCm39) |
K71T |
possibly damaging |
Het |
| Gtf3c3 |
A |
T |
1: 54,445,032 (GRCm39) |
L674Q |
probably damaging |
Het |
| Hipk2 |
A |
T |
6: 38,795,212 (GRCm39) |
H352Q |
probably damaging |
Het |
| Hivep1 |
T |
C |
13: 42,313,115 (GRCm39) |
V1785A |
probably damaging |
Het |
| Hspa4 |
A |
T |
11: 53,153,810 (GRCm39) |
I687N |
probably damaging |
Het |
| Krt18 |
A |
T |
15: 101,936,955 (GRCm39) |
D81V |
probably damaging |
Het |
| Lama3 |
A |
C |
18: 12,685,912 (GRCm39) |
D1142A |
probably damaging |
Het |
| Lnpep |
A |
G |
17: 17,766,727 (GRCm39) |
I713T |
possibly damaging |
Het |
| Man2b2 |
T |
A |
5: 36,967,677 (GRCm39) |
Y897F |
probably damaging |
Het |
| Muc5b |
A |
T |
7: 141,412,738 (GRCm39) |
I1895F |
unknown |
Het |
| Myh8 |
G |
A |
11: 67,177,089 (GRCm39) |
V414I |
probably damaging |
Het |
| Myo1d |
A |
T |
11: 80,575,149 (GRCm39) |
|
probably null |
Het |
| Nav2 |
A |
T |
7: 49,141,121 (GRCm39) |
M889L |
probably benign |
Het |
| Oc90 |
C |
T |
15: 65,754,457 (GRCm39) |
G236D |
probably benign |
Het |
| Or13a27 |
A |
G |
7: 139,925,548 (GRCm39) |
V118A |
probably benign |
Het |
| Pak4 |
A |
G |
7: 28,267,631 (GRCm39) |
I11T |
probably damaging |
Het |
| Papss2 |
T |
C |
19: 32,615,787 (GRCm39) |
I173T |
probably damaging |
Het |
| Pcsk9 |
A |
T |
4: 106,320,988 (GRCm39) |
D40E |
probably benign |
Het |
| Pdzrn3 |
G |
C |
6: 101,128,064 (GRCm39) |
H867Q |
probably damaging |
Het |
| Plcb1 |
A |
T |
2: 135,094,696 (GRCm39) |
I174F |
possibly damaging |
Het |
| Pom121l2 |
G |
A |
13: 22,166,015 (GRCm39) |
W95* |
probably null |
Het |
| Prcp |
A |
T |
7: 92,577,843 (GRCm39) |
T336S |
probably benign |
Het |
| Prdm11 |
A |
C |
2: 92,843,226 (GRCm39) |
S78A |
probably benign |
Het |
| Rasgrf1 |
A |
G |
9: 89,902,478 (GRCm39) |
R1208G |
probably damaging |
Het |
| Rasgrp2 |
T |
A |
19: 6,458,864 (GRCm39) |
|
probably null |
Het |
| Rb1 |
A |
T |
14: 73,450,566 (GRCm39) |
Y599* |
probably null |
Het |
| Rnf141 |
A |
T |
7: 110,433,010 (GRCm39) |
F62L |
probably damaging |
Het |
| Rsl24d1 |
T |
A |
9: 73,023,698 (GRCm39) |
F292I |
possibly damaging |
Het |
| Scn10a |
C |
T |
9: 119,477,175 (GRCm39) |
V736I |
probably damaging |
Het |
| Sim2 |
A |
T |
16: 93,905,598 (GRCm39) |
T141S |
probably benign |
Het |
| Slc6a15 |
G |
T |
10: 103,244,067 (GRCm39) |
V436L |
probably damaging |
Het |
| Smarca2 |
T |
C |
19: 26,668,772 (GRCm39) |
S924P |
probably damaging |
Het |
| Tacc1 |
T |
C |
8: 25,671,881 (GRCm39) |
E449G |
probably benign |
Het |
| Tlr3 |
A |
T |
8: 45,852,137 (GRCm39) |
N253K |
possibly damaging |
Het |
| Tmem198 |
G |
A |
1: 75,456,500 (GRCm39) |
A82T |
probably benign |
Het |
| Tom1l2 |
A |
T |
11: 60,133,648 (GRCm39) |
L54* |
probably null |
Het |
| Trav12-2 |
A |
G |
14: 53,854,356 (GRCm39) |
Y110C |
probably benign |
Het |
| Trdn |
T |
A |
10: 33,209,247 (GRCm39) |
|
probably null |
Het |
| Trim36 |
G |
T |
18: 46,300,565 (GRCm39) |
P690Q |
probably damaging |
Het |
| Trpc4 |
A |
T |
3: 54,206,599 (GRCm39) |
M600L |
probably damaging |
Het |
| Trpm2 |
T |
A |
10: 77,759,355 (GRCm39) |
Q1143L |
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,283,739 (GRCm39) |
D144E |
probably benign |
Het |
| Vps18 |
A |
T |
2: 119,127,858 (GRCm39) |
R894* |
probably null |
Het |
| Vwa1 |
A |
G |
4: 155,855,369 (GRCm39) |
V248A |
probably benign |
Het |
| Wdr75 |
T |
C |
1: 45,838,211 (GRCm39) |
V40A |
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 |
|
|
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 |
|
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'- AAAGTCGTGCCCTACCACTG -3'
(R):5'- GAAATTCTTGAGCGCTCTGC -3'
Sequencing Primer
(F):5'- ACTGCCTGGGCTCCATCTG -3'
(R):5'- TCTGCACTCCTGGGGACAAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation