Incidental Mutation 'IGL02674:Rgs11'
| ID |
303034 |
| 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 # |
IGL02674
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago2 |
T |
C |
15: 72,983,643 (GRCm39) |
R689G |
probably damaging |
Het |
| Agrn |
C |
T |
4: 156,259,018 (GRCm39) |
|
probably benign |
Het |
| Akna |
A |
T |
4: 63,289,181 (GRCm39) |
C1247* |
probably null |
Het |
| Appl1 |
T |
G |
14: 26,671,418 (GRCm39) |
T345P |
possibly damaging |
Het |
| Chga |
A |
G |
12: 102,529,160 (GRCm39) |
D379G |
probably damaging |
Het |
| Chrna6 |
C |
T |
8: 27,896,879 (GRCm39) |
A333T |
probably benign |
Het |
| Col14a1 |
G |
A |
15: 55,282,178 (GRCm39) |
G813E |
unknown |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,370,688 (GRCm39) |
Q4656R |
probably benign |
Het |
| Dock9 |
A |
C |
14: 121,833,023 (GRCm39) |
|
probably null |
Het |
| Fat4 |
A |
G |
3: 39,037,486 (GRCm39) |
N3713D |
probably benign |
Het |
| Fsd1 |
A |
T |
17: 56,303,483 (GRCm39) |
T452S |
probably benign |
Het |
| G6pc2 |
A |
G |
2: 69,056,910 (GRCm39) |
|
probably null |
Het |
| Gfus |
T |
C |
15: 75,798,238 (GRCm39) |
D178G |
probably damaging |
Het |
| Itprid1 |
A |
G |
6: 55,874,913 (GRCm39) |
T288A |
probably benign |
Het |
| Kcnh4 |
C |
A |
11: 100,637,720 (GRCm39) |
V646L |
possibly damaging |
Het |
| Kcnk1 |
T |
C |
8: 126,751,753 (GRCm39) |
Y120H |
probably damaging |
Het |
| L3mbtl3 |
C |
T |
10: 26,158,711 (GRCm39) |
E646K |
unknown |
Het |
| Lrrc4c |
T |
C |
2: 97,460,120 (GRCm39) |
W249R |
probably damaging |
Het |
| Meox1 |
A |
T |
11: 101,784,767 (GRCm39) |
L22H |
probably damaging |
Het |
| Mrgpra4 |
C |
T |
7: 47,630,690 (GRCm39) |
V304M |
probably benign |
Het |
| Ncaph |
T |
C |
2: 126,955,496 (GRCm39) |
Y554C |
probably damaging |
Het |
| Nfx1 |
T |
C |
4: 40,999,717 (GRCm39) |
|
probably null |
Het |
| Or10p1 |
A |
C |
10: 129,443,939 (GRCm39) |
M137R |
possibly damaging |
Het |
| Or8g37 |
A |
G |
9: 39,730,934 (GRCm39) |
|
probably null |
Het |
| Otol1 |
C |
T |
3: 69,926,077 (GRCm39) |
P84L |
probably benign |
Het |
| Pcdhb11 |
T |
C |
18: 37,556,667 (GRCm39) |
S666P |
probably damaging |
Het |
| Pou2f3 |
T |
C |
9: 43,050,628 (GRCm39) |
K244R |
probably damaging |
Het |
| Ppp6r1 |
T |
C |
7: 4,649,812 (GRCm39) |
N51S |
probably damaging |
Het |
| Prdm4 |
A |
T |
10: 85,729,263 (GRCm39) |
L715M |
probably damaging |
Het |
| Rsc1a1 |
G |
T |
4: 141,411,406 (GRCm39) |
P502Q |
probably damaging |
Het |
| Senp1 |
T |
C |
15: 97,954,840 (GRCm39) |
E448G |
probably damaging |
Het |
| Shd |
A |
G |
17: 56,278,554 (GRCm39) |
D39G |
possibly damaging |
Het |
| Skint5 |
A |
C |
4: 113,487,582 (GRCm39) |
|
probably benign |
Het |
| Tmprss15 |
T |
G |
16: 78,798,682 (GRCm39) |
T667P |
possibly damaging |
Het |
| Vps13b |
A |
T |
15: 35,640,104 (GRCm39) |
M1325L |
probably benign |
Het |
| Zfp263 |
T |
C |
16: 3,564,629 (GRCm39) |
|
probably benign |
Het |
| Zfp786 |
A |
G |
6: 47,797,427 (GRCm39) |
F504L |
probably benign |
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 |
|
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 |
|
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