Incidental Mutation 'R7446:Ralgds'
| ID |
577269 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ralgds
|
| Ensembl Gene |
ENSMUSG00000026821 |
| Gene Name |
ral guanine nucleotide dissociation stimulator |
| Synonyms |
RalGDS, Rgds, Gnds |
| MMRRC Submission |
045522-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R7446 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
28403137-28443093 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 28435901 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 509
(S509T)
|
| 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: S454T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028170
Gene: ENSMUSG00000026821
AA Change: S454T
| 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: S509T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000097812
Gene: ENSMUSG00000026821
AA Change: S509T
| 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 benign
Transcript: ENSMUST00000113893
AA Change: S497T
PolyPhen 2
Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000109526
Gene: ENSMUSG00000026821
AA Change: S497T
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
G |
15: 81,950,441 (GRCm39) |
D1446G |
probably benign |
Het |
| Adgrg1 |
A |
G |
8: 95,738,412 (GRCm39) |
Y635C |
probably damaging |
Het |
| Akr1cl |
G |
A |
1: 65,055,837 (GRCm39) |
R222W |
probably damaging |
Het |
| C2 |
G |
A |
17: 35,094,986 (GRCm39) |
R250C |
probably damaging |
Het |
| Cdk15 |
A |
G |
1: 59,328,854 (GRCm39) |
Y254C |
probably damaging |
Het |
| Celsr1 |
T |
C |
15: 85,791,874 (GRCm39) |
T2576A |
possibly damaging |
Het |
| Cfap61 |
C |
T |
2: 145,995,758 (GRCm39) |
R1108C |
probably benign |
Het |
| Clca3a1 |
A |
G |
3: 144,733,188 (GRCm39) |
S107P |
possibly damaging |
Het |
| Cplane1 |
A |
G |
15: 8,261,564 (GRCm39) |
D2460G |
probably damaging |
Het |
| Cpsf1 |
A |
G |
15: 76,485,950 (GRCm39) |
S407P |
probably benign |
Het |
| Crisp4 |
T |
C |
1: 18,192,962 (GRCm39) |
T252A |
probably damaging |
Het |
| Ctbs |
A |
G |
3: 146,164,573 (GRCm39) |
Y242C |
probably damaging |
Het |
| Cul4a |
A |
G |
8: 13,186,874 (GRCm39) |
T537A |
probably benign |
Het |
| D930020B18Rik |
T |
C |
10: 121,503,650 (GRCm39) |
I275T |
possibly damaging |
Het |
| Dcaf7 |
T |
C |
11: 105,944,561 (GRCm39) |
V248A |
probably benign |
Het |
| Def8 |
T |
C |
8: 124,181,061 (GRCm39) |
C153R |
probably damaging |
Het |
| Dennd1a |
A |
T |
2: 37,706,991 (GRCm39) |
V505D |
possibly damaging |
Het |
| Dpysl5 |
A |
C |
5: 30,936,231 (GRCm39) |
D207A |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,041,720 (GRCm39) |
S3307R |
probably benign |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Erf |
A |
T |
7: 24,945,556 (GRCm39) |
C72S |
probably damaging |
Het |
| Fastkd3 |
A |
T |
13: 68,740,079 (GRCm39) |
H47L |
unknown |
Het |
| Gm5591 |
C |
T |
7: 38,218,933 (GRCm39) |
E647K |
probably benign |
Het |
| Gng12 |
TGTCCAGCAAG |
TG |
6: 66,992,736 (GRCm39) |
|
probably benign |
Het |
| Guk1 |
T |
C |
11: 59,076,850 (GRCm39) |
T78A |
probably benign |
Het |
| Hephl1 |
T |
C |
9: 15,009,347 (GRCm39) |
T82A |
probably damaging |
Het |
| Htra4 |
A |
G |
8: 25,527,181 (GRCm39) |
S205P |
probably benign |
Het |
| Jakmip2 |
T |
C |
18: 43,710,390 (GRCm39) |
D271G |
probably damaging |
Het |
| Krt16 |
CAGTATCTG |
C |
11: 100,137,610 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
T |
A |
2: 41,561,069 (GRCm39) |
E286V |
|
Het |
| Lrp2 |
C |
A |
2: 69,262,557 (GRCm39) |
G4415W |
probably damaging |
Het |
| Lrp2 |
C |
T |
2: 69,290,018 (GRCm39) |
R3607H |
probably damaging |
Het |
| Mcph1 |
A |
G |
8: 18,721,109 (GRCm39) |
K646E |
probably benign |
Het |
| Mgam |
T |
C |
6: 40,723,266 (GRCm39) |
L457P |
probably damaging |
Het |
| Mink1 |
T |
A |
11: 70,500,455 (GRCm39) |
S802T |
probably benign |
Het |
| Mrgprb5 |
C |
T |
7: 47,818,252 (GRCm39) |
G161E |
possibly damaging |
Het |
| Mroh1 |
G |
A |
15: 76,336,472 (GRCm39) |
G1565D |
possibly damaging |
Het |
| Mynn |
A |
G |
3: 30,661,201 (GRCm39) |
K51R |
probably benign |
Het |
| Myo1b |
A |
G |
1: 51,803,065 (GRCm39) |
F872S |
possibly damaging |
Het |
| Nbas |
A |
T |
12: 13,443,499 (GRCm39) |
T1185S |
probably benign |
Het |
| Oas1d |
A |
T |
5: 121,058,054 (GRCm39) |
I333L |
probably benign |
Het |
| Or10ak9 |
A |
T |
4: 118,726,019 (GRCm39) |
I14F |
possibly damaging |
Het |
| Or4d10 |
A |
G |
19: 12,051,061 (GRCm39) |
*312Q |
probably null |
Het |
| P2ry12 |
A |
G |
3: 59,124,632 (GRCm39) |
*348Q |
probably null |
Het |
| Pik3cb |
A |
T |
9: 98,928,711 (GRCm39) |
V848E |
probably damaging |
Het |
| Plcz1 |
A |
C |
6: 139,959,312 (GRCm39) |
S282A |
possibly damaging |
Het |
| Prss46 |
A |
G |
9: 110,679,189 (GRCm39) |
D130G |
probably damaging |
Het |
| Pygl |
T |
C |
12: 70,243,784 (GRCm39) |
I644V |
probably benign |
Het |
| Rdh16f2 |
A |
G |
10: 127,712,767 (GRCm39) |
D255G |
probably benign |
Het |
| Scaf4 |
T |
C |
16: 90,055,658 (GRCm39) |
D133G |
unknown |
Het |
| Sdk1 |
G |
A |
5: 142,130,731 (GRCm39) |
S1630N |
probably damaging |
Het |
| Sema5b |
C |
T |
16: 35,467,573 (GRCm39) |
T279I |
probably damaging |
Het |
| Slc24a3 |
T |
A |
2: 145,422,902 (GRCm39) |
L207H |
probably damaging |
Het |
| Speer2 |
A |
T |
16: 69,654,965 (GRCm39) |
S167T |
possibly damaging |
Het |
| Spock1 |
A |
G |
13: 57,583,898 (GRCm39) |
I339T |
unknown |
Het |
| Srsf6 |
T |
A |
2: 162,776,636 (GRCm39) |
S327T |
unknown |
Het |
| Syne1 |
T |
A |
10: 5,172,266 (GRCm39) |
E5058D |
probably benign |
Het |
| Tcf19 |
A |
G |
17: 35,825,428 (GRCm39) |
V243A |
probably benign |
Het |
| Tspan15 |
T |
C |
10: 62,029,734 (GRCm39) |
D122G |
probably benign |
Het |
| Ttc17 |
C |
T |
2: 94,205,495 (GRCm39) |
V284M |
probably damaging |
Het |
| Usp29 |
A |
C |
7: 6,964,219 (GRCm39) |
T21P |
possibly damaging |
Het |
| Uspl1 |
T |
A |
5: 149,141,082 (GRCm39) |
C360* |
probably null |
Het |
| Vmn1r181 |
A |
C |
7: 23,684,356 (GRCm39) |
S274R |
probably benign |
Het |
| Xrcc5 |
T |
C |
1: 72,433,132 (GRCm39) |
|
probably null |
Het |
| Zfp277 |
C |
T |
12: 40,378,729 (GRCm39) |
R376H |
probably damaging |
Het |
| Zfp629 |
T |
C |
7: 127,210,201 (GRCm39) |
E536G |
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 |
|
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'- ATCTCGTGCTTGCACACAG -3'
(R):5'- TTGACAGGACTGGAAGTTGGC -3'
Sequencing Primer
(F):5'- AAAACGGTTTTGCCTGCTCTG -3'
(R):5'- CTGGAAGTTGGCCAAAAGCTTTC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation