Incidental Mutation 'IGL02670:Rgs11'
| ID |
302883 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rgs11
|
| Ensembl Gene |
ENSMUSG00000024186 |
| Gene Name |
regulator of G-protein signaling 11 |
| Synonyms |
|
| Accession Numbers |
|
| Is this an essential gene? |
Probably non essential
(E-score: 0.233)
|
| Stock # |
IGL02670
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
26202951-26211324 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 26207631 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 279
(V279I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025020
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025020]
[ENSMUST00000114988]
[ENSMUST00000122058]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025020
AA Change: V279I
PolyPhen 2
Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000025020
Gene: ENSMUSG00000024186
AA Change: V279I
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
34 |
109 |
7.78e-17 |
SMART |
|
G_gamma
|
220 |
284 |
1.38e-19 |
SMART |
|
GGL
|
223 |
284 |
1.1e-26 |
SMART |
|
RGS
|
303 |
418 |
6.23e-47 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114988
|
| SMART Domains |
Protein: ENSMUSP00000110639
Gene: ENSMUSG00000024187
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
50 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
218 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
415 |
425 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122058
AA Change: V277I
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000113885
Gene: ENSMUSG00000024186
AA Change: V277I
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
32 |
107 |
7.78e-17 |
SMART |
|
G_gamma
|
218 |
282 |
1.38e-19 |
SMART |
|
GGL
|
221 |
282 |
1.1e-26 |
SMART |
|
RGS
|
301 |
416 |
6.23e-47 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123670
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126464
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127594
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139639
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146683
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147220
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152299
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152676
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155072
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176847
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the RGS (regulator of G protein signaling) family. Members of the RGS family act as GTPase-activating proteins on the alpha subunits of heterotrimeric, signal-transducing G proteins. This protein inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form. Alternative splicing occurs at this locus and four transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Nov 2013]
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal cone and rod b-wave electrophysiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438A13Rik |
C |
T |
3: 36,967,305 |
Q2193* |
probably null |
Het |
| Asb1 |
T |
C |
1: 91,546,918 |
|
probably benign |
Het |
| Cnot6 |
G |
A |
11: 49,685,114 |
Q178* |
probably null |
Het |
| Col5a1 |
C |
T |
2: 27,974,715 |
A737V |
unknown |
Het |
| Cyp27b1 |
T |
C |
10: 127,050,358 |
S303P |
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,409,296 |
L3620P |
probably damaging |
Het |
| Dock7 |
A |
T |
4: 98,966,286 |
|
probably null |
Het |
| Fam161b |
T |
C |
12: 84,357,594 |
D104G |
probably benign |
Het |
| Fam8a1 |
A |
G |
13: 46,673,604 |
M284V |
possibly damaging |
Het |
| Fkbp3 |
T |
A |
12: 65,069,103 |
K65* |
probably null |
Het |
| Gatb |
A |
G |
3: 85,613,551 |
|
probably null |
Het |
| Gm572 |
A |
T |
4: 148,651,228 |
H38L |
probably benign |
Het |
| Gm6576 |
A |
C |
15: 27,025,512 |
|
noncoding transcript |
Het |
| L2hgdh |
G |
A |
12: 69,692,480 |
R406W |
possibly damaging |
Het |
| Lmo7 |
A |
T |
14: 101,880,980 |
T214S |
probably damaging |
Het |
| Map3k12 |
T |
C |
15: 102,503,546 |
H361R |
probably benign |
Het |
| Mios |
T |
C |
6: 8,235,378 |
|
probably benign |
Het |
| Mta1 |
T |
C |
12: 113,130,121 |
L315P |
probably damaging |
Het |
| Pask |
A |
C |
1: 93,310,818 |
V1315G |
probably damaging |
Het |
| Pias4 |
A |
T |
10: 81,164,070 |
C50S |
probably damaging |
Het |
| Sgk1 |
T |
A |
10: 21,928,546 |
C92S |
probably benign |
Het |
| Slc2a13 |
C |
T |
15: 91,497,509 |
G259E |
probably damaging |
Het |
| Slc5a4b |
A |
G |
10: 76,075,100 |
C301R |
probably damaging |
Het |
| Sstr4 |
G |
T |
2: 148,396,533 |
G355* |
probably null |
Het |
| Tnrc6a |
T |
A |
7: 123,171,312 |
L775Q |
possibly damaging |
Het |
| Vmn1r218 |
A |
G |
13: 23,137,004 |
I94V |
probably benign |
Het |
| Xpa |
A |
G |
4: 46,185,682 |
F99L |
probably benign |
Het |
|
| Other mutations in Rgs11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00326:Rgs11
|
APN |
17 |
26207397 |
missense |
probably damaging |
1.00 |
|
IGL01617:Rgs11
|
APN |
17 |
26208250 |
missense |
probably damaging |
1.00 |
|
IGL02150:Rgs11
|
APN |
17 |
26202994 |
missense |
probably benign |
0.05 |
|
IGL02610:Rgs11
|
APN |
17 |
26207631 |
missense |
probably benign |
0.31 |
|
IGL02612:Rgs11
|
APN |
17 |
26207631 |
missense |
probably benign |
0.31 |
|
IGL02617:Rgs11
|
APN |
17 |
26207631 |
missense |
probably benign |
0.31 |
|
IGL02669:Rgs11
|
APN |
17 |
26207631 |
missense |
probably benign |
0.31 |
|
IGL02674:Rgs11
|
APN |
17 |
26207631 |
missense |
probably benign |
0.31 |
|
IGL02706:Rgs11
|
APN |
17 |
26207631 |
missense |
probably benign |
0.31 |
|
IGL02707:Rgs11
|
APN |
17 |
26207631 |
missense |
probably benign |
0.31 |
|
IGL02741:Rgs11
|
APN |
17 |
26207631 |
missense |
probably benign |
0.31 |
|
R0147:Rgs11
|
UTSW |
17 |
26207459 |
critical splice donor site |
probably null |
|
|
R0148:Rgs11
|
UTSW |
17 |
26207459 |
critical splice donor site |
probably null |
|
|
R0508:Rgs11
|
UTSW |
17 |
26207469 |
splice site |
probably benign |
|
|
R0744:Rgs11
|
UTSW |
17 |
26203318 |
missense |
probably damaging |
1.00 |
|
R1479:Rgs11
|
UTSW |
17 |
26208283 |
splice site |
probably null |
|
|
R1599:Rgs11
|
UTSW |
17 |
26208249 |
missense |
probably damaging |
1.00 |
|
R1779:Rgs11
|
UTSW |
17 |
26210666 |
missense |
probably damaging |
1.00 |
|
R3692:Rgs11
|
UTSW |
17 |
26204328 |
unclassified |
probably benign |
|
|
R3807:Rgs11
|
UTSW |
17 |
26203500 |
missense |
probably damaging |
0.99 |
|
R3889:Rgs11
|
UTSW |
17 |
26207587 |
missense |
probably damaging |
0.98 |
|
R4689:Rgs11
|
UTSW |
17 |
26204547 |
critical splice donor site |
probably null |
|
|
R4832:Rgs11
|
UTSW |
17 |
26207568 |
missense |
probably benign |
0.00 |
|
R5052:Rgs11
|
UTSW |
17 |
26207973 |
intron |
probably benign |
|
|
R5330:Rgs11
|
UTSW |
17 |
26202973 |
start codon destroyed |
probably benign |
0.01 |
|
R5331:Rgs11
|
UTSW |
17 |
26202973 |
start codon destroyed |
probably benign |
0.01 |
|
R5683:Rgs11
|
UTSW |
17 |
26205181 |
missense |
probably benign |
0.32 |
|
R5879:Rgs11
|
UTSW |
17 |
26203463 |
unclassified |
probably benign |
|
|
R6156:Rgs11
|
UTSW |
17 |
26210465 |
nonsense |
probably null |
|
|
R6671:Rgs11
|
UTSW |
17 |
26208298 |
missense |
probably damaging |
1.00 |
|
R7432:Rgs11
|
UTSW |
17 |
26207760 |
missense |
probably damaging |
0.99 |
|
R7609:Rgs11
|
UTSW |
17 |
26207441 |
missense |
probably damaging |
1.00 |
|
R7795:Rgs11
|
UTSW |
17 |
26207578 |
missense |
possibly damaging |
0.88 |
|
R7820:Rgs11
|
UTSW |
17 |
26205195 |
splice site |
probably null |
|
|
R8025:Rgs11
|
UTSW |
17 |
26204385 |
critical splice donor site |
probably null |
|
|
R8755:Rgs11
|
UTSW |
17 |
26203372 |
missense |
probably damaging |
0.98 |
|
R8856:Rgs11
|
UTSW |
17 |
26204510 |
missense |
probably damaging |
0.96 |
|
R8977:Rgs11
|
UTSW |
17 |
26208259 |
missense |
probably damaging |
1.00 |
|
R9214:Rgs11
|
UTSW |
17 |
26208286 |
missense |
probably damaging |
1.00 |
|
Z1088:Rgs11
|
UTSW |
17 |
26205772 |
missense |
probably benign |
0.01 |
|
| Posted On |
2015-04-16 |
