Incidental Mutation 'IGL01617:Rgs11'
ID |
92427 |
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 |
|
Essential gene? |
Possibly non essential
(E-score: 0.276)
|
Stock # |
IGL01617
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
26421925-26430298 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 26427224 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 385
(H385R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025020
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025020]
[ENSMUST00000114988]
[ENSMUST00000118487]
[ENSMUST00000122058]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025020
AA Change: H385R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000025020 Gene: ENSMUSG00000024186 AA Change: H385R
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: ENSMUST00000118487
|
SMART Domains |
Protein: ENSMUSP00000113418 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 damaging
Transcript: ENSMUST00000122058
AA Change: H383R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113885 Gene: ENSMUSG00000024186 AA Change: H383R
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: ENSMUST00000155072
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139639
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176847
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152676
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146683
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152299
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147220
|
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 |
Aass |
T |
A |
6: 23,115,149 (GRCm39) |
I160F |
possibly damaging |
Het |
Cacna1d |
C |
T |
14: 29,824,328 (GRCm39) |
A1030T |
probably damaging |
Het |
Ceacam13 |
A |
T |
7: 17,745,308 (GRCm39) |
D126V |
possibly damaging |
Het |
Cep68 |
G |
T |
11: 20,189,510 (GRCm39) |
Q501K |
probably benign |
Het |
Cfhr1 |
A |
T |
1: 139,481,417 (GRCm39) |
C154* |
probably null |
Het |
Chd3 |
A |
G |
11: 69,249,060 (GRCm39) |
|
probably benign |
Het |
Chrna5 |
A |
G |
9: 54,912,297 (GRCm39) |
M262V |
probably damaging |
Het |
Csrnp2 |
T |
C |
15: 100,382,524 (GRCm39) |
Y172C |
probably benign |
Het |
Dzip1 |
G |
T |
14: 119,118,477 (GRCm39) |
P752Q |
probably benign |
Het |
Frem1 |
G |
A |
4: 82,854,376 (GRCm39) |
T1630I |
probably benign |
Het |
Gabrr1 |
G |
A |
4: 33,162,634 (GRCm39) |
S400N |
probably benign |
Het |
Hmcn1 |
C |
T |
1: 150,547,783 (GRCm39) |
A2723T |
probably benign |
Het |
Htt |
A |
G |
5: 35,034,099 (GRCm39) |
H1895R |
possibly damaging |
Het |
Kif21a |
T |
C |
15: 90,879,840 (GRCm39) |
|
probably benign |
Het |
Mitf |
A |
G |
6: 97,973,389 (GRCm39) |
I241V |
probably benign |
Het |
Mterf1b |
A |
T |
5: 4,246,503 (GRCm39) |
D48V |
probably benign |
Het |
Nmbr |
G |
T |
10: 14,646,173 (GRCm39) |
R349M |
probably benign |
Het |
Pik3r4 |
T |
C |
9: 105,532,164 (GRCm39) |
S579P |
probably benign |
Het |
Polr2i |
T |
C |
7: 29,931,817 (GRCm39) |
F16S |
possibly damaging |
Het |
Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
Rufy4 |
G |
A |
1: 74,168,513 (GRCm39) |
G99R |
probably damaging |
Het |
Slc29a1 |
A |
G |
17: 45,900,375 (GRCm39) |
F185S |
probably benign |
Het |
Spag17 |
G |
A |
3: 100,016,824 (GRCm39) |
V2200I |
possibly damaging |
Het |
Trappc14 |
A |
T |
5: 138,260,478 (GRCm39) |
L47Q |
probably damaging |
Het |
Ttc7b |
G |
T |
12: 100,352,215 (GRCm39) |
A414D |
possibly damaging |
Het |
Ugt2b37 |
A |
T |
5: 87,399,738 (GRCm39) |
W257R |
probably damaging |
Het |
Ythdc2 |
A |
G |
18: 44,974,482 (GRCm39) |
I381M |
possibly damaging |
Het |
|
Other mutations in Rgs11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00326:Rgs11
|
APN |
17 |
26,426,371 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02150:Rgs11
|
APN |
17 |
26,421,968 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02610:Rgs11
|
APN |
17 |
26,426,605 (GRCm39) |
missense |
probably benign |
0.31 |
IGL02612:Rgs11
|
APN |
17 |
26,426,605 (GRCm39) |
missense |
probably benign |
0.31 |
IGL02617:Rgs11
|
APN |
17 |
26,426,605 (GRCm39) |
missense |
probably benign |
0.31 |
IGL02669:Rgs11
|
APN |
17 |
26,426,605 (GRCm39) |
missense |
probably benign |
0.31 |
IGL02670:Rgs11
|
APN |
17 |
26,426,605 (GRCm39) |
missense |
probably benign |
0.31 |
IGL02674:Rgs11
|
APN |
17 |
26,426,605 (GRCm39) |
missense |
probably benign |
0.31 |
IGL02706:Rgs11
|
APN |
17 |
26,426,605 (GRCm39) |
missense |
probably benign |
0.31 |
IGL02707:Rgs11
|
APN |
17 |
26,426,605 (GRCm39) |
missense |
probably benign |
0.31 |
IGL02741:Rgs11
|
APN |
17 |
26,426,605 (GRCm39) |
missense |
probably benign |
0.31 |
R0147:Rgs11
|
UTSW |
17 |
26,426,433 (GRCm39) |
critical splice donor site |
probably null |
|
R0148:Rgs11
|
UTSW |
17 |
26,426,433 (GRCm39) |
critical splice donor site |
probably null |
|
R0508:Rgs11
|
UTSW |
17 |
26,426,443 (GRCm39) |
splice site |
probably benign |
|
R0744:Rgs11
|
UTSW |
17 |
26,422,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R1479:Rgs11
|
UTSW |
17 |
26,427,257 (GRCm39) |
splice site |
probably null |
|
R1599:Rgs11
|
UTSW |
17 |
26,427,223 (GRCm39) |
missense |
probably damaging |
1.00 |
R1779:Rgs11
|
UTSW |
17 |
26,429,640 (GRCm39) |
missense |
probably damaging |
1.00 |
R3692:Rgs11
|
UTSW |
17 |
26,423,302 (GRCm39) |
unclassified |
probably benign |
|
R3807:Rgs11
|
UTSW |
17 |
26,422,474 (GRCm39) |
missense |
probably damaging |
0.99 |
R3889:Rgs11
|
UTSW |
17 |
26,426,561 (GRCm39) |
missense |
probably damaging |
0.98 |
R4689:Rgs11
|
UTSW |
17 |
26,423,521 (GRCm39) |
critical splice donor site |
probably null |
|
R4832:Rgs11
|
UTSW |
17 |
26,426,542 (GRCm39) |
missense |
probably benign |
0.00 |
R5052:Rgs11
|
UTSW |
17 |
26,426,947 (GRCm39) |
intron |
probably benign |
|
R5330:Rgs11
|
UTSW |
17 |
26,421,947 (GRCm39) |
start codon destroyed |
probably benign |
0.01 |
R5331:Rgs11
|
UTSW |
17 |
26,421,947 (GRCm39) |
start codon destroyed |
probably benign |
0.01 |
R5683:Rgs11
|
UTSW |
17 |
26,424,155 (GRCm39) |
missense |
probably benign |
0.32 |
R5879:Rgs11
|
UTSW |
17 |
26,422,437 (GRCm39) |
unclassified |
probably benign |
|
R6156:Rgs11
|
UTSW |
17 |
26,429,439 (GRCm39) |
nonsense |
probably null |
|
R6671:Rgs11
|
UTSW |
17 |
26,427,272 (GRCm39) |
missense |
probably damaging |
1.00 |
R7432:Rgs11
|
UTSW |
17 |
26,426,734 (GRCm39) |
missense |
probably damaging |
0.99 |
R7609:Rgs11
|
UTSW |
17 |
26,426,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R7795:Rgs11
|
UTSW |
17 |
26,426,552 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7820:Rgs11
|
UTSW |
17 |
26,424,169 (GRCm39) |
splice site |
probably null |
|
R8025:Rgs11
|
UTSW |
17 |
26,423,359 (GRCm39) |
critical splice donor site |
probably null |
|
R8755:Rgs11
|
UTSW |
17 |
26,422,346 (GRCm39) |
missense |
probably damaging |
0.98 |
R8856:Rgs11
|
UTSW |
17 |
26,423,484 (GRCm39) |
missense |
probably damaging |
0.96 |
R8977:Rgs11
|
UTSW |
17 |
26,427,233 (GRCm39) |
missense |
probably damaging |
1.00 |
R9214:Rgs11
|
UTSW |
17 |
26,427,260 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Rgs11
|
UTSW |
17 |
26,424,746 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2013-12-09 |