Incidental Mutation 'R9415:Rgs6'
| ID |
712010 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgs6
|
| Ensembl Gene |
ENSMUSG00000021219 |
| Gene Name |
regulator of G-protein signaling 6 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
R9415 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
82663325-83208835 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83184166 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 459
(S459G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139725
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101234]
[ENSMUST00000185665]
[ENSMUST00000185674]
[ENSMUST00000186081]
[ENSMUST00000186309]
[ENSMUST00000186323]
[ENSMUST00000186458]
[ENSMUST00000191107]
[ENSMUST00000186848]
[ENSMUST00000191311]
[ENSMUST00000191352]
[ENSMUST00000200911]
[ENSMUST00000202210]
|
| AlphaFold |
Q9Z2H2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101234
|
| SMART Domains |
Protein: ENSMUSP00000098793
Gene: ENSMUSG00000021219
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
40 |
115 |
3.28e-24 |
SMART |
|
G_gamma
|
255 |
319 |
2.23e-23 |
SMART |
|
GGL
|
258 |
319 |
1.38e-27 |
SMART |
|
RGS
|
336 |
451 |
2.05e-47 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185665
AA Change: S459G
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000139566
Gene: ENSMUSG00000021219
AA Change: S459G
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
40 |
115 |
1.5e-26 |
SMART |
|
G_gamma
|
255 |
319 |
1e-27 |
SMART |
|
GGL
|
258 |
319 |
8.7e-30 |
SMART |
|
RGS
|
336 |
451 |
7.5e-50 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185674
AA Change: S422G
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000139940
Gene: ENSMUSG00000021219
AA Change: S422G
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
40 |
115 |
1.5e-26 |
SMART |
|
RGS
|
299 |
414 |
7.5e-50 |
SMART |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000186081
|
| SMART Domains |
Protein: ENSMUSP00000140188
Gene: ENSMUSG00000021219
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
40 |
115 |
1.5e-26 |
SMART |
|
RGS
|
299 |
414 |
7.5e-50 |
SMART |
|
low complexity region
|
417 |
425 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000140701
Gene: ENSMUSG00000021219
AA Change: S459G
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
40 |
115 |
1.5e-26 |
SMART |
|
G_gamma
|
255 |
319 |
1e-27 |
SMART |
|
GGL
|
258 |
319 |
8.7e-30 |
SMART |
|
RGS
|
336 |
451 |
7.5e-50 |
SMART |
|
low complexity region
|
494 |
499 |
N/A |
INTRINSIC |
|
low complexity region
|
511 |
523 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186323
|
| SMART Domains |
Protein: ENSMUSP00000141079
Gene: ENSMUSG00000021219
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
40 |
115 |
1.5e-26 |
SMART |
|
RGS
|
299 |
414 |
7.5e-50 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186458
|
| SMART Domains |
Protein: ENSMUSP00000139735
Gene: ENSMUSG00000021219
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
40 |
115 |
3.28e-24 |
SMART |
|
G_gamma
|
255 |
319 |
2.23e-23 |
SMART |
|
GGL
|
258 |
319 |
1.38e-27 |
SMART |
|
RGS
|
336 |
451 |
2.05e-47 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191107
AA Change: S459G
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000139725
Gene: ENSMUSG00000021219
AA Change: S459G
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
40 |
115 |
1.5e-26 |
SMART |
|
G_gamma
|
255 |
319 |
1e-27 |
SMART |
|
GGL
|
258 |
319 |
8.7e-30 |
SMART |
|
RGS
|
336 |
451 |
7.5e-50 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186848
|
| SMART Domains |
Protein: ENSMUSP00000141044
Gene: ENSMUSG00000021219
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
5 |
80 |
1.6e-26 |
SMART |
|
G_gamma
|
220 |
284 |
1.1e-27 |
SMART |
|
GGL
|
223 |
284 |
8.8e-30 |
SMART |
|
RGS
|
301 |
416 |
7.6e-50 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191311
AA Change: S459G
PolyPhen 2
Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000140723
Gene: ENSMUSG00000021219
AA Change: S459G
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
40 |
115 |
1.5e-26 |
SMART |
|
G_gamma
|
255 |
319 |
1e-27 |
SMART |
|
GGL
|
258 |
319 |
8.7e-30 |
SMART |
|
RGS
|
336 |
451 |
7.5e-50 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191352
AA Change: S459G
PolyPhen 2
Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000139718
Gene: ENSMUSG00000021219
AA Change: S459G
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
40 |
115 |
1.5e-26 |
SMART |
|
G_gamma
|
255 |
319 |
1e-27 |
SMART |
|
GGL
|
258 |
319 |
8.7e-30 |
SMART |
|
RGS
|
336 |
451 |
7.5e-50 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200911
|
| SMART Domains |
Protein: ENSMUSP00000143801
Gene: ENSMUSG00000021219
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
40 |
115 |
3.28e-24 |
SMART |
|
G_gamma
|
255 |
319 |
2.23e-23 |
SMART |
|
GGL
|
258 |
319 |
1.38e-27 |
SMART |
|
RGS
|
336 |
451 |
2.05e-47 |
SMART |
|
| Predicted Effect |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202210
|
| SMART Domains |
Protein: ENSMUSP00000143961
Gene: ENSMUSG00000021219
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
40 |
115 |
3.28e-24 |
SMART |
|
G_gamma
|
255 |
319 |
2.23e-23 |
SMART |
|
GGL
|
258 |
319 |
1.38e-27 |
SMART |
|
RGS
|
336 |
451 |
2.05e-47 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the RGS (regulator of G protein signaling) family of proteins, which are defined by the presence of a RGS domain that confers the GTPase-activating activity of these proteins toward certain G alpha subunits. This protein also belongs to a subfamily of RGS proteins characterized by the presence of DEP (Dishevelled, Egl-10, and Pleckstrin) and GGL (G-protein gamma like)domains, the latter a G beta 5-interacting domain. The RGS proteins negatively regulate G protein signaling, and may modulate neuronal, cardiovascular, lymphocytic activities, and cancer risk. Mice lacking this gene exhibit decreased heart rate. Alternative splicing results in multiple transcript variants, however, the full-length nature of some of these variants is not known. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased heart rate and abnormal impulse conducting system conduction. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc1 |
A |
G |
2: 128,476,598 (GRCm39) |
M1340T |
probably benign |
Het |
| Arhgef15 |
A |
G |
11: 68,842,233 (GRCm39) |
L457P |
probably damaging |
Het |
| Arih2 |
A |
T |
9: 108,486,986 (GRCm39) |
C317S |
probably damaging |
Het |
| Asb14 |
A |
T |
14: 26,633,793 (GRCm39) |
T333S |
probably damaging |
Het |
| Atp13a4 |
T |
C |
16: 29,227,821 (GRCm39) |
N1012S |
|
Het |
| Capn9 |
C |
A |
8: 125,332,449 (GRCm39) |
D429E |
probably benign |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Cntrob |
C |
T |
11: 69,193,741 (GRCm39) |
R803Q |
possibly damaging |
Het |
| Dnah8 |
A |
G |
17: 31,029,297 (GRCm39) |
I4089V |
probably benign |
Het |
| Fam162b |
A |
G |
10: 51,466,155 (GRCm39) |
|
probably null |
Het |
| Fhod3 |
A |
G |
18: 25,102,244 (GRCm39) |
D180G |
probably damaging |
Het |
| Gtf3c4 |
A |
G |
2: 28,723,966 (GRCm39) |
S589P |
possibly damaging |
Het |
| Jcad |
T |
C |
18: 4,673,912 (GRCm39) |
L558P |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,737,586 (GRCm39) |
I5170T |
unknown |
Het |
| Lamb3 |
T |
C |
1: 193,008,319 (GRCm39) |
F251L |
probably benign |
Het |
| Lpxn |
T |
A |
19: 12,802,336 (GRCm39) |
D220E |
probably benign |
Het |
| Mex3a |
T |
A |
3: 88,444,480 (GRCm39) |
F519I |
probably damaging |
Het |
| Mfap1a |
T |
C |
2: 121,337,001 (GRCm39) |
M8V |
probably benign |
Het |
| Mical3 |
T |
A |
6: 120,934,712 (GRCm39) |
D1789V |
probably damaging |
Het |
| Mpdz |
G |
A |
4: 81,235,905 (GRCm39) |
Q1211* |
probably null |
Het |
| Myd88 |
A |
G |
9: 119,167,070 (GRCm39) |
|
probably null |
Het |
| Myof |
T |
A |
19: 37,941,412 (GRCm39) |
K799N |
probably damaging |
Het |
| Naip2 |
T |
A |
13: 100,298,243 (GRCm39) |
S598C |
probably damaging |
Het |
| Ndst4 |
C |
T |
3: 125,518,385 (GRCm39) |
S354L |
probably benign |
Het |
| Ntn4 |
A |
G |
10: 93,480,488 (GRCm39) |
T71A |
probably benign |
Het |
| Omd |
A |
C |
13: 49,745,837 (GRCm39) |
M416L |
probably benign |
Het |
| Oog1 |
G |
C |
12: 87,655,086 (GRCm39) |
L411F |
probably damaging |
Het |
| Or10a3m |
T |
A |
7: 108,313,042 (GRCm39) |
W161R |
probably damaging |
Het |
| Or1e32 |
A |
G |
11: 73,705,143 (GRCm39) |
I255T |
probably damaging |
Het |
| Or56a5 |
T |
G |
7: 104,793,498 (GRCm39) |
M7L |
probably benign |
Het |
| Or7e171-ps1 |
A |
G |
9: 19,853,200 (GRCm39) |
W179R |
probably benign |
Het |
| Pde4dip |
T |
C |
3: 97,660,468 (GRCm39) |
Q670R |
possibly damaging |
Het |
| Pex13 |
C |
A |
11: 23,601,034 (GRCm39) |
G272V |
probably damaging |
Het |
| Pfkl |
A |
T |
10: 77,824,081 (GRCm39) |
V769D |
probably damaging |
Het |
| Pkn3 |
A |
G |
2: 29,968,332 (GRCm39) |
Y10C |
probably benign |
Het |
| Pomgnt1 |
A |
G |
4: 116,013,378 (GRCm39) |
H500R |
probably damaging |
Het |
| Rasef |
T |
C |
4: 73,645,882 (GRCm39) |
T496A |
probably benign |
Het |
| Serpinb6b |
A |
T |
13: 33,159,002 (GRCm39) |
M187L |
|
Het |
| Shcbp1l |
A |
G |
1: 153,321,627 (GRCm39) |
I408M |
possibly damaging |
Het |
| Slc25a45 |
T |
C |
19: 5,934,967 (GRCm39) |
V272A |
probably damaging |
Het |
| Tlr4 |
T |
C |
4: 66,746,160 (GRCm39) |
|
probably null |
Het |
| Unc80 |
A |
T |
1: 66,550,064 (GRCm39) |
N774I |
|
Het |
| Urb2 |
T |
A |
8: 124,756,613 (GRCm39) |
S773R |
possibly damaging |
Het |
| Vmn1r35 |
A |
T |
6: 66,656,115 (GRCm39) |
V185E |
probably damaging |
Het |
| Vps13d |
A |
C |
4: 144,796,527 (GRCm39) |
V3691G |
|
Het |
| Wdtc1 |
A |
G |
4: 133,022,684 (GRCm39) |
V554A |
possibly damaging |
Het |
| Xrn1 |
A |
T |
9: 95,851,527 (GRCm39) |
M182L |
probably damaging |
Het |
| Zfp747 |
T |
C |
7: 126,973,198 (GRCm39) |
H324R |
possibly damaging |
Het |
|
| Other mutations in Rgs6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00502:Rgs6
|
APN |
12 |
83,098,097 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02131:Rgs6
|
APN |
12 |
83,116,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02354:Rgs6
|
APN |
12 |
82,665,393 (GRCm39) |
intron |
probably benign |
|
|
IGL02361:Rgs6
|
APN |
12 |
82,665,393 (GRCm39) |
intron |
probably benign |
|
|
IGL02568:Rgs6
|
APN |
12 |
83,117,376 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02598:Rgs6
|
APN |
12 |
83,138,571 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03146:Rgs6
|
APN |
12 |
83,099,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03248:Rgs6
|
APN |
12 |
83,099,324 (GRCm39) |
splice site |
probably benign |
|
|
IGL03098:Rgs6
|
UTSW |
12 |
83,032,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03147:Rgs6
|
UTSW |
12 |
83,138,620 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4453001:Rgs6
|
UTSW |
12 |
83,138,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0270:Rgs6
|
UTSW |
12 |
83,180,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0390:Rgs6
|
UTSW |
12 |
83,180,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0540:Rgs6
|
UTSW |
12 |
83,106,578 (GRCm39) |
nonsense |
probably null |
|
|
R0630:Rgs6
|
UTSW |
12 |
83,094,324 (GRCm39) |
splice site |
probably benign |
|
|
R1479:Rgs6
|
UTSW |
12 |
83,163,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1533:Rgs6
|
UTSW |
12 |
83,138,547 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1545:Rgs6
|
UTSW |
12 |
83,162,951 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2161:Rgs6
|
UTSW |
12 |
83,138,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2421:Rgs6
|
UTSW |
12 |
83,163,057 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4089:Rgs6
|
UTSW |
12 |
83,110,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4573:Rgs6
|
UTSW |
12 |
83,112,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4821:Rgs6
|
UTSW |
12 |
83,114,185 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6228:Rgs6
|
UTSW |
12 |
83,112,738 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7023:Rgs6
|
UTSW |
12 |
83,138,878 (GRCm39) |
intron |
probably benign |
|
|
R7585:Rgs6
|
UTSW |
12 |
83,153,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7610:Rgs6
|
UTSW |
12 |
83,138,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7798:Rgs6
|
UTSW |
12 |
83,116,293 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8003:Rgs6
|
UTSW |
12 |
83,032,144 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8011:Rgs6
|
UTSW |
12 |
83,163,066 (GRCm39) |
missense |
probably null |
0.32 |
|
R8081:Rgs6
|
UTSW |
12 |
83,094,347 (GRCm39) |
nonsense |
probably null |
|
|
R8248:Rgs6
|
UTSW |
12 |
83,184,478 (GRCm39) |
intron |
probably benign |
|
|
R8267:Rgs6
|
UTSW |
12 |
82,698,669 (GRCm39) |
missense |
probably benign |
|
|
R8285:Rgs6
|
UTSW |
12 |
83,162,949 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8932:Rgs6
|
UTSW |
12 |
83,112,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9398:Rgs6
|
UTSW |
12 |
82,698,615 (GRCm39) |
missense |
probably benign |
0.09 |
|
RF008:Rgs6
|
UTSW |
12 |
83,110,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATCAGCTCTGCCAACAGC -3'
(R):5'- ATCCCTGGAAGAGAAGCTGC -3'
Sequencing Primer
(F):5'- AGCTCTGCCAACAGCTCTGG -3'
(R):5'- AGAAGCTGCAGACACTTGC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation