Incidental Mutation 'IGL02706:Rgs11'
ID |
304333 |
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 # |
IGL02706
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
T |
C |
17: 24,517,966 (GRCm39) |
E781G |
probably benign |
Het |
Abcc8 |
C |
T |
7: 45,816,345 (GRCm39) |
R265Q |
probably benign |
Het |
Agtr1b |
A |
T |
3: 20,370,027 (GRCm39) |
I193N |
probably benign |
Het |
Atp6v1e2 |
A |
G |
17: 87,252,362 (GRCm39) |
I12T |
probably damaging |
Het |
Cacna1g |
T |
C |
11: 94,347,818 (GRCm39) |
T757A |
probably damaging |
Het |
Cldn15 |
A |
G |
5: 137,003,685 (GRCm39) |
K200R |
probably benign |
Het |
Dip2b |
G |
T |
15: 100,113,192 (GRCm39) |
V1302F |
probably damaging |
Het |
Dnajb6 |
T |
A |
5: 29,957,421 (GRCm39) |
Y68N |
probably damaging |
Het |
Dok1 |
T |
A |
6: 83,009,315 (GRCm39) |
E179V |
probably damaging |
Het |
Epha4 |
T |
C |
1: 77,403,482 (GRCm39) |
T342A |
probably damaging |
Het |
Etf1 |
A |
T |
18: 35,064,690 (GRCm39) |
S6R |
possibly damaging |
Het |
Fryl |
T |
C |
5: 73,250,506 (GRCm39) |
I987V |
probably benign |
Het |
Gba2 |
C |
T |
4: 43,567,257 (GRCm39) |
G897S |
probably benign |
Het |
Habp2 |
G |
T |
19: 56,298,570 (GRCm39) |
|
probably null |
Het |
Hapln1 |
G |
T |
13: 89,753,578 (GRCm39) |
S248I |
possibly damaging |
Het |
Hydin |
A |
G |
8: 111,137,198 (GRCm39) |
D667G |
probably damaging |
Het |
Kcnma1 |
T |
A |
14: 23,359,222 (GRCm39) |
H1074L |
probably damaging |
Het |
Kctd9 |
T |
C |
14: 67,962,130 (GRCm39) |
|
probably null |
Het |
L3mbtl4 |
A |
G |
17: 68,793,914 (GRCm39) |
D306G |
probably damaging |
Het |
Lgalsl |
T |
C |
11: 20,780,090 (GRCm39) |
R49G |
probably damaging |
Het |
Lpo |
C |
T |
11: 87,708,599 (GRCm39) |
S133N |
probably benign |
Het |
Lrp8 |
A |
T |
4: 107,660,516 (GRCm39) |
R59* |
probably null |
Het |
Mctp1 |
T |
C |
13: 76,971,188 (GRCm39) |
F629S |
probably damaging |
Het |
Med1 |
A |
G |
11: 98,047,533 (GRCm39) |
|
probably benign |
Het |
Nbea |
T |
C |
3: 55,944,699 (GRCm39) |
H555R |
probably damaging |
Het |
Nedd1 |
T |
C |
10: 92,522,147 (GRCm39) |
H630R |
possibly damaging |
Het |
Nr3c2 |
A |
T |
8: 77,635,045 (GRCm39) |
|
probably null |
Het |
Nubp2 |
A |
T |
17: 25,102,171 (GRCm39) |
V267E |
probably benign |
Het |
Oacyl |
A |
T |
18: 65,882,792 (GRCm39) |
Y629F |
probably damaging |
Het |
Or1n1b |
A |
G |
2: 36,780,731 (GRCm39) |
I43T |
probably damaging |
Het |
Or1x2 |
T |
A |
11: 50,918,091 (GRCm39) |
H87Q |
probably damaging |
Het |
Or5b119 |
A |
T |
19: 13,457,462 (GRCm39) |
Y33* |
probably null |
Het |
Pknox2 |
T |
C |
9: 36,847,675 (GRCm39) |
H114R |
probably benign |
Het |
Ppp2r1b |
A |
G |
9: 50,790,134 (GRCm39) |
D564G |
possibly damaging |
Het |
Ppp3ca |
T |
G |
3: 136,611,079 (GRCm39) |
N367K |
possibly damaging |
Het |
Ptprn2 |
T |
C |
12: 116,852,518 (GRCm39) |
V525A |
probably damaging |
Het |
Reps1 |
T |
G |
10: 17,998,763 (GRCm39) |
|
probably benign |
Het |
Sipa1l1 |
A |
G |
12: 82,444,207 (GRCm39) |
I973V |
possibly damaging |
Het |
Ssh2 |
T |
A |
11: 77,344,232 (GRCm39) |
V739D |
possibly damaging |
Het |
Tbc1d24 |
A |
G |
17: 24,404,395 (GRCm39) |
F250L |
probably benign |
Het |
Ube3a |
T |
A |
7: 58,921,881 (GRCm39) |
H84Q |
possibly damaging |
Het |
Usp34 |
T |
C |
11: 23,338,659 (GRCm39) |
|
probably benign |
Het |
Zdhhc8 |
G |
T |
16: 18,042,758 (GRCm39) |
L481I |
probably damaging |
Het |
Zfp574 |
A |
G |
7: 24,780,790 (GRCm39) |
H604R |
probably damaging |
Het |
Zfp945 |
A |
T |
17: 23,076,256 (GRCm39) |
M63K |
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 |
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 |
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 |