Incidental Mutation 'IGL02354:Rgs6'
ID |
289605 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rgs6
|
Ensembl Gene |
ENSMUSG00000021219 |
Gene Name |
regulator of G-protein signaling 6 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.147)
|
Stock # |
IGL02354
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
82663325-83208835 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to T
at 82665393 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143961
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161801]
[ENSMUST00000185665]
[ENSMUST00000186081]
[ENSMUST00000186309]
[ENSMUST00000186458]
[ENSMUST00000186848]
[ENSMUST00000201602]
[ENSMUST00000200911]
[ENSMUST00000201861]
[ENSMUST00000200861]
[ENSMUST00000202210]
[ENSMUST00000201271]
|
AlphaFold |
Q9Z2H2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000161801
|
SMART Domains |
Protein: ENSMUSP00000125256 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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000185665
|
SMART Domains |
Protein: ENSMUSP00000139566 Gene: ENSMUSG00000021219
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: 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 |
probably benign
Transcript: ENSMUST00000186309
|
SMART Domains |
Protein: ENSMUSP00000140701 Gene: ENSMUSG00000021219
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: 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: 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 |
noncoding transcript
Transcript: ENSMUST00000193448
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201602
|
SMART Domains |
Protein: ENSMUSP00000144044 Gene: ENSMUSG00000021219
Domain | Start | End | E-Value | Type |
Pfam:DEP
|
43 |
73 |
1.1e-5 |
PFAM |
|
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 |
probably benign
Transcript: ENSMUST00000201861
|
SMART Domains |
Protein: ENSMUSP00000144395 Gene: ENSMUSG00000021219
Domain | Start | End | E-Value | Type |
Pfam:DEP
|
43 |
88 |
5.2e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200861
|
SMART Domains |
Protein: ENSMUSP00000144118 Gene: ENSMUSG00000021219
Domain | Start | End | E-Value | Type |
DEP
|
40 |
109 |
3.2e-18 |
SMART |
|
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201271
|
SMART Domains |
Protein: ENSMUSP00000144139 Gene: ENSMUSG00000021219
Domain | Start | End | E-Value | Type |
DEP
|
40 |
115 |
1.6e-26 |
SMART |
|
Coding Region Coverage |
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aqp1 |
A |
C |
6: 55,322,498 (GRCm39) |
L164F |
possibly damaging |
Het |
Bfsp1 |
T |
C |
2: 143,673,907 (GRCm39) |
E261G |
probably damaging |
Het |
Brinp2 |
A |
G |
1: 158,074,748 (GRCm39) |
C458R |
probably damaging |
Het |
Cacng3 |
T |
G |
7: 122,271,169 (GRCm39) |
M58R |
possibly damaging |
Het |
Cfap43 |
A |
T |
19: 47,885,852 (GRCm39) |
C254* |
probably null |
Het |
Cnga1 |
T |
C |
5: 72,774,061 (GRCm39) |
|
probably null |
Het |
Dis3 |
A |
T |
14: 99,317,148 (GRCm39) |
Y765* |
probably null |
Het |
Dpep1 |
T |
A |
8: 123,926,957 (GRCm39) |
S260R |
probably benign |
Het |
Elmod1 |
A |
G |
9: 53,838,842 (GRCm39) |
L106P |
probably damaging |
Het |
Fut10 |
A |
G |
8: 31,691,398 (GRCm39) |
Y81C |
probably damaging |
Het |
Fzd10 |
T |
A |
5: 128,678,932 (GRCm39) |
D217E |
possibly damaging |
Het |
Gap43 |
T |
C |
16: 42,160,871 (GRCm39) |
|
probably benign |
Het |
Gigyf1 |
T |
C |
5: 137,517,989 (GRCm39) |
|
probably benign |
Het |
Gpc5 |
C |
T |
14: 115,370,699 (GRCm39) |
R175* |
probably null |
Het |
Gpi-ps |
T |
C |
8: 5,690,896 (GRCm39) |
|
noncoding transcript |
Het |
Gpr61 |
A |
G |
3: 108,057,534 (GRCm39) |
S376P |
probably damaging |
Het |
Kcna1 |
C |
A |
6: 126,619,869 (GRCm39) |
Q150H |
probably damaging |
Het |
Lama5 |
A |
T |
2: 179,835,677 (GRCm39) |
C1225* |
probably null |
Het |
Lrrc25 |
A |
T |
8: 71,070,477 (GRCm39) |
D86V |
probably benign |
Het |
Madd |
A |
T |
2: 90,992,543 (GRCm39) |
V1043E |
probably benign |
Het |
Mov10 |
A |
T |
3: 104,711,437 (GRCm39) |
|
probably benign |
Het |
Mzb1 |
T |
A |
18: 35,782,250 (GRCm39) |
H46L |
possibly damaging |
Het |
Nos3 |
A |
T |
5: 24,572,621 (GRCm39) |
I187F |
probably damaging |
Het |
Or4c1 |
T |
A |
2: 89,133,526 (GRCm39) |
M137L |
probably benign |
Het |
Or5p53 |
T |
A |
7: 107,533,484 (GRCm39) |
Y252* |
probably null |
Het |
Or6c69c |
A |
G |
10: 129,911,143 (GRCm39) |
Y288C |
probably damaging |
Het |
Pgap1 |
T |
C |
1: 54,551,975 (GRCm39) |
T486A |
probably benign |
Het |
Prdm9 |
C |
T |
17: 15,783,109 (GRCm39) |
V58M |
probably damaging |
Het |
Prkd2 |
A |
G |
7: 16,581,583 (GRCm39) |
Y146C |
probably damaging |
Het |
Psmd9 |
G |
T |
5: 123,386,379 (GRCm39) |
R175I |
probably damaging |
Het |
Pxdn |
A |
G |
12: 30,049,188 (GRCm39) |
D618G |
probably damaging |
Het |
Rrm2 |
G |
T |
12: 24,761,438 (GRCm39) |
|
probably benign |
Het |
Sall1 |
G |
T |
8: 89,759,677 (GRCm39) |
S142R |
probably benign |
Het |
Shank3 |
T |
C |
15: 89,388,536 (GRCm39) |
V376A |
probably damaging |
Het |
Slc5a10 |
A |
G |
11: 61,610,666 (GRCm39) |
|
probably null |
Het |
Slfn3 |
A |
T |
11: 83,104,068 (GRCm39) |
Q313L |
possibly damaging |
Het |
Snapc4 |
A |
G |
2: 26,257,319 (GRCm39) |
|
probably benign |
Het |
Sptbn1 |
A |
T |
11: 30,060,783 (GRCm39) |
F2062L |
probably damaging |
Het |
Tbc1d10a |
T |
C |
11: 4,165,047 (GRCm39) |
V500A |
probably benign |
Het |
Tcea1 |
T |
C |
1: 4,966,570 (GRCm39) |
|
probably benign |
Het |
Thsd7a |
T |
C |
6: 12,348,192 (GRCm39) |
|
probably benign |
Het |
Tm9sf4 |
C |
T |
2: 153,029,570 (GRCm39) |
T173M |
probably benign |
Het |
Tmtc2 |
T |
C |
10: 105,107,387 (GRCm39) |
T709A |
probably benign |
Het |
Zfp385b |
T |
C |
2: 77,280,647 (GRCm39) |
E97G |
probably damaging |
Het |
Zim1 |
A |
T |
7: 6,685,873 (GRCm39) |
|
probably null |
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 |
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 |
R9415:Rgs6
|
UTSW |
12 |
83,184,166 (GRCm39) |
missense |
probably benign |
0.06 |
RF008:Rgs6
|
UTSW |
12 |
83,110,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |