Incidental Mutation 'IGL02617:Rgs11'
| ID |
300698 |
| 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 # |
IGL02617
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
26421925-26430298 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 26426605 bp (GRCm39)
|
| 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: ENSMUST00000147220
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152676
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155072
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176847
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146683
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152299
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
C |
T |
16: 56,394,807 (GRCm39) |
Q172* |
probably null |
Het |
| Adgrg5 |
A |
G |
8: 95,660,610 (GRCm39) |
D79G |
probably benign |
Het |
| Aga |
G |
A |
8: 53,973,348 (GRCm39) |
D249N |
possibly damaging |
Het |
| Aifm3 |
A |
G |
16: 17,318,397 (GRCm39) |
Q170R |
probably null |
Het |
| Cdh2 |
T |
A |
18: 16,760,661 (GRCm39) |
N512Y |
probably damaging |
Het |
| Chd8 |
A |
G |
14: 52,472,648 (GRCm39) |
I385T |
probably benign |
Het |
| Clic6 |
A |
G |
16: 92,296,206 (GRCm39) |
K289E |
probably benign |
Het |
| Ctcf |
G |
T |
8: 106,403,842 (GRCm39) |
|
probably benign |
Het |
| Fat1 |
T |
C |
8: 45,488,628 (GRCm39) |
Y3447H |
probably benign |
Het |
| Fhip1a |
A |
T |
3: 85,580,344 (GRCm39) |
D620E |
probably benign |
Het |
| Fmo2 |
T |
A |
1: 162,704,490 (GRCm39) |
Q472L |
probably damaging |
Het |
| Gcnt3 |
C |
A |
9: 69,941,444 (GRCm39) |
G375W |
probably damaging |
Het |
| Golga3 |
T |
A |
5: 110,336,612 (GRCm39) |
V417E |
probably benign |
Het |
| Hivep3 |
T |
C |
4: 119,952,641 (GRCm39) |
L319P |
probably benign |
Het |
| Kctd13 |
A |
G |
7: 126,541,504 (GRCm39) |
K248R |
possibly damaging |
Het |
| Magel2 |
G |
A |
7: 62,029,946 (GRCm39) |
R950H |
unknown |
Het |
| Niban1 |
T |
A |
1: 151,447,296 (GRCm39) |
S6T |
probably benign |
Het |
| Nmt2 |
A |
G |
2: 3,315,750 (GRCm39) |
I247V |
probably benign |
Het |
| Or14a256 |
T |
G |
7: 86,264,872 (GRCm39) |
H327P |
probably benign |
Het |
| Or1e30 |
T |
A |
11: 73,678,560 (GRCm39) |
N265K |
probably benign |
Het |
| Pcdhb12 |
T |
C |
18: 37,570,099 (GRCm39) |
V415A |
probably benign |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Prr27 |
T |
A |
5: 87,990,518 (GRCm39) |
N43K |
probably benign |
Het |
| Sec24a |
A |
T |
11: 51,603,014 (GRCm39) |
|
probably null |
Het |
| Srek1ip1 |
C |
A |
13: 104,973,984 (GRCm39) |
H130Q |
possibly damaging |
Het |
| Trio |
C |
T |
15: 27,841,935 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,608,614 (GRCm39) |
|
probably benign |
Het |
| Vmn2r65 |
C |
A |
7: 84,589,549 (GRCm39) |
S789I |
probably damaging |
Het |
| Zbtb17 |
A |
G |
4: 141,192,399 (GRCm39) |
Q448R |
probably 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 |
|
IGL01617:Rgs11
|
APN |
17 |
26,427,224 (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 |
|
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 |
2015-04-16 |
Incidental Mutation