Incidental Mutation 'IGL03248:Rgs6'
| ID |
414497 |
| 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: 0.175)
|
| Stock # |
IGL03248
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
82663325-83208835 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 83099324 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143961
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101234]
[ENSMUST00000161801]
[ENSMUST00000185665]
[ENSMUST00000185674]
[ENSMUST00000186081]
[ENSMUST00000186309]
[ENSMUST00000186323]
[ENSMUST00000186848]
[ENSMUST00000191107]
[ENSMUST00000201271]
[ENSMUST00000186458]
[ENSMUST00000191352]
[ENSMUST00000200911]
[ENSMUST00000191311]
[ENSMUST00000202210]
[ENSMUST00000200861]
[ENSMUST00000201861]
[ENSMUST00000201602]
|
| 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: 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: ENSMUST00000185674
|
| SMART Domains |
Protein: ENSMUSP00000139940
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: 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: 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: 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: ENSMUST00000191107
|
| SMART Domains |
Protein: ENSMUSP00000139725
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: ENSMUST00000201271
|
| SMART Domains |
Protein: ENSMUSP00000144139
Gene: ENSMUSG00000021219
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
40 |
115 |
1.6e-26 |
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: ENSMUST00000191352
|
| SMART Domains |
Protein: ENSMUSP00000139718
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: 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: ENSMUST00000191311
|
| SMART Domains |
Protein: ENSMUSP00000140723
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: 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 |
noncoding transcript
Transcript: ENSMUST00000190964
|
| 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: 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: ENSMUST00000201602
|
| SMART Domains |
Protein: ENSMUSP00000144044
Gene: ENSMUSG00000021219
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DEP
|
43 |
73 |
1.1e-5 |
PFAM |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd5 |
T |
C |
9: 122,197,290 (GRCm39) |
F116S |
probably damaging |
Het |
| Accsl |
A |
G |
2: 93,693,129 (GRCm39) |
|
probably benign |
Het |
| Adgrl2 |
T |
A |
3: 148,523,036 (GRCm39) |
E165V |
probably damaging |
Het |
| Alb |
T |
C |
5: 90,609,573 (GRCm39) |
|
probably benign |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Arhgef10 |
T |
C |
8: 14,978,847 (GRCm39) |
V38A |
probably benign |
Het |
| Astn2 |
A |
G |
4: 65,664,530 (GRCm39) |
|
probably benign |
Het |
| Bahcc1 |
G |
A |
11: 120,159,235 (GRCm39) |
R154H |
probably damaging |
Het |
| Cep120 |
A |
G |
18: 53,868,844 (GRCm39) |
Y112H |
probably benign |
Het |
| Chrna5 |
C |
T |
9: 54,911,923 (GRCm39) |
T241I |
probably damaging |
Het |
| Clasp1 |
A |
G |
1: 118,530,206 (GRCm39) |
S1215G |
probably benign |
Het |
| Ddx21 |
C |
T |
10: 62,427,769 (GRCm39) |
R378Q |
possibly damaging |
Het |
| Dnah1 |
A |
T |
14: 30,991,846 (GRCm39) |
L3052Q |
probably damaging |
Het |
| Dyrk4 |
G |
T |
6: 126,861,016 (GRCm39) |
T445K |
probably benign |
Het |
| Ercc4 |
T |
C |
16: 12,945,457 (GRCm39) |
W291R |
probably damaging |
Het |
| Flvcr1 |
A |
G |
1: 190,757,939 (GRCm39) |
W76R |
probably damaging |
Het |
| Frmd3 |
A |
G |
4: 74,046,455 (GRCm39) |
I132V |
possibly damaging |
Het |
| Gnb4 |
T |
C |
3: 32,639,324 (GRCm39) |
D323G |
probably damaging |
Het |
| Hnrnpc |
G |
A |
14: 52,312,896 (GRCm39) |
|
probably benign |
Het |
| Hnrnpl |
T |
C |
7: 28,513,505 (GRCm39) |
S202P |
probably benign |
Het |
| Hydin |
T |
A |
8: 111,321,921 (GRCm39) |
F4524L |
probably damaging |
Het |
| Iars2 |
A |
G |
1: 185,023,629 (GRCm39) |
|
probably benign |
Het |
| Ino80d |
A |
G |
1: 63,107,341 (GRCm39) |
|
probably null |
Het |
| Itga8 |
C |
A |
2: 12,137,327 (GRCm39) |
A13S |
probably benign |
Het |
| Man2a1 |
T |
C |
17: 65,020,606 (GRCm39) |
F794S |
probably damaging |
Het |
| Mpp7 |
T |
C |
18: 7,403,269 (GRCm39) |
D347G |
probably benign |
Het |
| Nup93 |
T |
C |
8: 95,032,716 (GRCm39) |
L411P |
probably damaging |
Het |
| Or51f23 |
C |
T |
7: 102,452,846 (GRCm39) |
Q54* |
probably null |
Het |
| Plin1 |
C |
T |
7: 79,372,382 (GRCm39) |
V86I |
probably damaging |
Het |
| Shroom3 |
C |
T |
5: 93,100,399 (GRCm39) |
P1473S |
probably benign |
Het |
| Slc12a8 |
A |
G |
16: 33,371,397 (GRCm39) |
I178V |
probably damaging |
Het |
| Slc20a2 |
T |
A |
8: 23,048,999 (GRCm39) |
S219T |
probably benign |
Het |
| Tasor |
C |
T |
14: 27,198,649 (GRCm39) |
T1327I |
probably damaging |
Het |
| Tfeb |
T |
C |
17: 48,097,920 (GRCm39) |
M36T |
probably benign |
Het |
| Trim33 |
G |
A |
3: 103,218,289 (GRCm39) |
|
probably benign |
Het |
| Trnau1ap |
A |
G |
4: 132,049,114 (GRCm39) |
Y30H |
probably damaging |
Het |
| Tulp1 |
T |
C |
17: 28,578,298 (GRCm39) |
K276E |
possibly damaging |
Het |
| Uvssa |
T |
A |
5: 33,549,160 (GRCm39) |
I340N |
probably damaging |
Het |
| Vmn1r32 |
T |
A |
6: 66,529,897 (GRCm39) |
N293I |
possibly damaging |
Het |
| Xpc |
T |
C |
6: 91,481,565 (GRCm39) |
N250S |
probably damaging |
Het |
| Ybey |
T |
C |
10: 76,304,161 (GRCm39) |
I14V |
probably benign |
Het |
| Zfhx3 |
T |
C |
8: 109,673,182 (GRCm39) |
Y1411H |
probably 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 |
|
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 |
2016-08-02 |
Incidental Mutation