Incidental Mutation 'R0508:Rgs11'
ID |
47758 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rgs11
|
Ensembl Gene |
ENSMUSG00000024186 |
Gene Name |
regulator of G-protein signaling 11 |
Synonyms |
|
MMRRC Submission |
038703-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.253)
|
Stock # |
R0508 (G1)
|
Quality Score |
212 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
26421925-26430298 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 26426443 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113885
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025020]
[ENSMUST00000114988]
[ENSMUST00000122058]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025020
|
SMART Domains |
Protein: ENSMUSP00000025020 Gene: ENSMUSG00000024186
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
|
SMART Domains |
Protein: ENSMUSP00000113885 Gene: ENSMUSG00000024186
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: ENSMUST00000146683
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176847
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152299
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155072
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.0%
|
Validation Efficiency |
99% (67/68) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
C |
12: 71,211,162 (GRCm39) |
L632P |
probably damaging |
Het |
4833439L19Rik |
A |
G |
13: 54,700,863 (GRCm39) |
|
probably null |
Het |
Abca4 |
T |
C |
3: 121,917,200 (GRCm39) |
|
probably benign |
Het |
Adamts10 |
G |
T |
17: 33,762,692 (GRCm39) |
G557V |
probably damaging |
Het |
Adgrg6 |
T |
C |
10: 14,326,360 (GRCm39) |
H424R |
probably benign |
Het |
Ano4 |
T |
C |
10: 88,816,839 (GRCm39) |
Q623R |
probably damaging |
Het |
Ap1g1 |
T |
A |
8: 110,564,364 (GRCm39) |
|
probably benign |
Het |
Ap3b1 |
T |
C |
13: 94,702,222 (GRCm39) |
S1092P |
unknown |
Het |
Arhgap32 |
A |
T |
9: 32,101,364 (GRCm39) |
|
probably benign |
Het |
Arhgap40 |
A |
T |
2: 158,388,670 (GRCm39) |
S535C |
probably damaging |
Het |
Atp9a |
T |
C |
2: 168,491,446 (GRCm39) |
|
probably null |
Het |
Bicral |
A |
T |
17: 47,136,327 (GRCm39) |
H294Q |
possibly damaging |
Het |
Ccdc121rt3 |
T |
C |
5: 112,502,685 (GRCm39) |
K340E |
probably damaging |
Het |
Cdhr5 |
T |
A |
7: 140,852,812 (GRCm39) |
H58L |
probably benign |
Het |
Cenpt |
T |
C |
8: 106,576,147 (GRCm39) |
E100G |
possibly damaging |
Het |
Cep97 |
A |
G |
16: 55,750,969 (GRCm39) |
S16P |
probably benign |
Het |
Clec2i |
T |
A |
6: 128,870,663 (GRCm39) |
V67D |
probably damaging |
Het |
Col22a1 |
A |
G |
15: 71,805,262 (GRCm39) |
L146P |
unknown |
Het |
Coq6 |
G |
T |
12: 84,414,913 (GRCm39) |
|
probably benign |
Het |
Cyp1a1 |
A |
G |
9: 57,607,588 (GRCm39) |
Q72R |
probably benign |
Het |
Ep400 |
A |
G |
5: 110,887,374 (GRCm39) |
S570P |
probably benign |
Het |
Erbin |
T |
C |
13: 103,970,535 (GRCm39) |
N1027S |
probably damaging |
Het |
Exog |
T |
A |
9: 119,277,444 (GRCm39) |
|
probably benign |
Het |
Fahd1 |
A |
C |
17: 25,068,975 (GRCm39) |
V34G |
probably benign |
Het |
Fetub |
C |
T |
16: 22,748,045 (GRCm39) |
R74W |
probably benign |
Het |
Fhip2a |
T |
A |
19: 57,367,174 (GRCm39) |
L239Q |
probably benign |
Het |
Frmpd1 |
G |
A |
4: 45,284,938 (GRCm39) |
G1253D |
unknown |
Het |
Galnt12 |
A |
G |
4: 47,104,255 (GRCm39) |
D171G |
probably damaging |
Het |
Gm973 |
G |
T |
1: 59,621,649 (GRCm39) |
|
probably benign |
Het |
Hdlbp |
C |
A |
1: 93,342,533 (GRCm39) |
|
probably null |
Het |
Il1rl1 |
T |
A |
1: 40,490,877 (GRCm39) |
I386N |
possibly damaging |
Het |
Itgav |
T |
C |
2: 83,623,002 (GRCm39) |
|
probably benign |
Het |
Magoh |
A |
C |
4: 107,742,195 (GRCm39) |
K114Q |
possibly damaging |
Het |
Mdfic2 |
T |
C |
6: 98,215,005 (GRCm39) |
|
probably benign |
Het |
Mki67 |
A |
T |
7: 135,302,075 (GRCm39) |
D986E |
probably benign |
Het |
Muc4 |
G |
A |
16: 32,570,131 (GRCm39) |
S397N |
possibly damaging |
Het |
Nckap5 |
T |
C |
1: 125,909,121 (GRCm39) |
|
probably null |
Het |
Neu1 |
A |
G |
17: 35,151,760 (GRCm39) |
I185V |
probably benign |
Het |
Nkiras1 |
T |
A |
14: 18,278,524 (GRCm38) |
D79E |
probably damaging |
Het |
Nkx3-1 |
A |
G |
14: 69,428,350 (GRCm39) |
E66G |
probably benign |
Het |
Or51a5 |
A |
T |
7: 102,771,193 (GRCm39) |
I262N |
possibly damaging |
Het |
Osbpl11 |
T |
A |
16: 33,016,465 (GRCm39) |
N73K |
probably benign |
Het |
Otulin |
C |
T |
15: 27,608,944 (GRCm39) |
V2I |
possibly damaging |
Het |
Pdss2 |
CGGAG |
CG |
10: 43,097,927 (GRCm39) |
|
probably benign |
Het |
Pld2 |
T |
C |
11: 70,443,368 (GRCm39) |
M421T |
probably damaging |
Het |
Rrad |
A |
T |
8: 105,356,500 (GRCm39) |
D133E |
possibly damaging |
Het |
Scaf11 |
A |
G |
15: 96,318,368 (GRCm39) |
S399P |
probably damaging |
Het |
Sccpdh |
A |
G |
1: 179,508,080 (GRCm39) |
|
probably null |
Het |
Scn2a |
A |
G |
2: 65,548,186 (GRCm39) |
E1126G |
probably damaging |
Het |
Selenop |
T |
G |
15: 3,305,202 (GRCm39) |
D119E |
probably benign |
Het |
Serpinb3c |
T |
A |
1: 107,204,651 (GRCm39) |
S32C |
probably damaging |
Het |
Serpine1 |
C |
A |
5: 137,093,770 (GRCm39) |
K315N |
probably benign |
Het |
Slc27a1 |
T |
C |
8: 72,032,872 (GRCm39) |
|
probably benign |
Het |
Slc4a8 |
G |
A |
15: 100,686,973 (GRCm39) |
R259Q |
probably benign |
Het |
Smtnl2 |
C |
T |
11: 72,293,962 (GRCm39) |
R198Q |
probably damaging |
Het |
Spta1 |
A |
C |
1: 174,052,023 (GRCm39) |
Y1819S |
probably damaging |
Het |
Stard3 |
T |
A |
11: 98,263,140 (GRCm39) |
I65N |
probably damaging |
Het |
Tfrc |
T |
C |
16: 32,448,997 (GRCm39) |
L712P |
probably damaging |
Het |
Tmem201 |
G |
A |
4: 149,816,343 (GRCm39) |
R62C |
probably damaging |
Het |
Trim5 |
A |
T |
7: 103,914,811 (GRCm39) |
F410L |
probably null |
Het |
Txndc2 |
T |
A |
17: 65,944,948 (GRCm39) |
I410F |
probably benign |
Het |
Urb1 |
C |
T |
16: 90,580,150 (GRCm39) |
|
probably benign |
Het |
Vmn1r34 |
A |
T |
6: 66,614,392 (GRCm39) |
F115L |
probably benign |
Het |
Vnn1 |
T |
C |
10: 23,770,910 (GRCm39) |
V46A |
probably benign |
Het |
Xrn1 |
T |
A |
9: 95,933,789 (GRCm39) |
S1615R |
probably benign |
Het |
Zfand4 |
T |
A |
6: 116,262,828 (GRCm39) |
C118S |
probably damaging |
Het |
Zfp952 |
G |
A |
17: 33,221,979 (GRCm39) |
E115K |
possibly damaging |
Het |
Zfpm1 |
T |
C |
8: 123,061,872 (GRCm39) |
F368L |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCTGTGTAACCCAAGCCAACTG -3'
(R):5'- GGGCATTTAACAAAGGCACCCAAAG -3'
Sequencing Primer
(F):5'- AACTGTGTCTTTCAGACCTAGAGC -3'
(R):5'- ATTCATGGCCCAGTAGGTGAC -3'
|
Posted On |
2013-06-12 |