Incidental Mutation 'R5879:Rgs11'
| ID |
490540 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R5879 (G1)
|
| Quality Score |
211 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
26421925-26430298 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 26422437 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025019]
[ENSMUST00000025020]
[ENSMUST00000039113]
[ENSMUST00000120333]
[ENSMUST00000121959]
[ENSMUST00000122058]
[ENSMUST00000176961]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025019
|
| SMART Domains |
Protein: ENSMUSP00000025019
Gene: ENSMUSG00000073433
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
28 |
N/A |
INTRINSIC |
|
Pfam:Rho_GDI
|
29 |
222 |
1.2e-60 |
PFAM |
|
| Predicted Effect |
silent
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: ENSMUST00000039113
|
| SMART Domains |
Protein: ENSMUSP00000035584
Gene: ENSMUSG00000024184
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
46 |
153 |
1.5e-26 |
PFAM |
|
Pfam:Thioredoxin_6
|
182 |
369 |
3.2e-37 |
PFAM |
|
Pfam:Thioredoxin
|
392 |
497 |
2.4e-27 |
PFAM |
|
low complexity region
|
501 |
515 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120333
|
| SMART Domains |
Protein: ENSMUSP00000114080
Gene: ENSMUSG00000024184
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
46 |
153 |
2.6e-27 |
PFAM |
|
Pfam:Thioredoxin_6
|
181 |
366 |
2e-37 |
PFAM |
|
Pfam:Thioredoxin
|
389 |
494 |
7.2e-28 |
PFAM |
|
low complexity region
|
498 |
512 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121959
|
| SMART Domains |
Protein: ENSMUSP00000113186
Gene: ENSMUSG00000073433
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rho_GDI
|
14 |
197 |
6.4e-65 |
PFAM |
|
| Predicted Effect |
silent
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: ENSMUST00000127594
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152299
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176847
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152676
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126464
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146683
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147220
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155072
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142410
|
| SMART Domains |
Protein: ENSMUSP00000115267
Gene: ENSMUSG00000024184
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thioredoxin
|
38 |
145 |
3.8e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176961
|
| SMART Domains |
Protein: ENSMUSP00000135717
Gene: ENSMUSG00000073433
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rho_GDI
|
14 |
222 |
1.9e-83 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139639
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155556
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.7%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh16a1 |
C |
T |
7: 44,796,930 (GRCm39) |
W66* |
probably null |
Het |
| Arhgap39 |
T |
C |
15: 76,636,007 (GRCm39) |
D76G |
probably damaging |
Het |
| Arhgef2 |
G |
A |
3: 88,550,924 (GRCm39) |
|
probably null |
Het |
| C1qtnf2 |
T |
C |
11: 43,376,835 (GRCm39) |
M99T |
probably damaging |
Het |
| Cyren |
A |
G |
6: 34,851,593 (GRCm39) |
L87P |
probably damaging |
Het |
| Eml3 |
G |
A |
19: 8,912,379 (GRCm39) |
C392Y |
possibly damaging |
Het |
| Ephb4 |
C |
A |
5: 137,358,678 (GRCm39) |
P287Q |
probably benign |
Het |
| Fat4 |
G |
T |
3: 38,941,485 (GRCm39) |
R126L |
probably benign |
Het |
| Flt3 |
T |
C |
5: 147,271,719 (GRCm39) |
M858V |
probably damaging |
Het |
| Gprin3 |
A |
C |
6: 59,331,698 (GRCm39) |
I203R |
probably benign |
Het |
| Insr |
G |
T |
8: 3,248,173 (GRCm39) |
Y457* |
probably null |
Het |
| Ipo13 |
G |
A |
4: 117,760,400 (GRCm39) |
T649I |
possibly damaging |
Het |
| Krba1 |
A |
G |
6: 48,392,678 (GRCm39) |
D818G |
possibly damaging |
Het |
| Llgl1 |
G |
A |
11: 60,603,806 (GRCm39) |
G1016R |
probably benign |
Het |
| Loxl4 |
A |
G |
19: 42,596,066 (GRCm39) |
V142A |
probably benign |
Het |
| Mthfd1 |
A |
G |
12: 76,340,992 (GRCm39) |
I464V |
probably benign |
Het |
| Mycs |
C |
A |
X: 5,380,131 (GRCm39) |
K316N |
probably damaging |
Het |
| Ncor2 |
A |
G |
5: 125,103,839 (GRCm39) |
|
probably benign |
Het |
| Nlrc3 |
A |
G |
16: 3,781,909 (GRCm39) |
F516S |
probably damaging |
Het |
| Oacyl |
A |
G |
18: 65,882,743 (GRCm39) |
S540G |
probably damaging |
Het |
| Olfml2a |
A |
T |
2: 38,850,242 (GRCm39) |
T653S |
probably damaging |
Het |
| Or8s16 |
C |
T |
15: 98,211,369 (GRCm39) |
V21I |
probably benign |
Het |
| Pcnx2 |
A |
T |
8: 126,500,685 (GRCm39) |
N1468K |
probably damaging |
Het |
| Plbd1 |
A |
G |
6: 136,611,503 (GRCm39) |
I258T |
probably damaging |
Het |
| Ppargc1b |
C |
G |
18: 61,442,164 (GRCm39) |
D591H |
probably damaging |
Het |
| Pramel21 |
A |
T |
4: 143,344,161 (GRCm39) |
Y487F |
possibly damaging |
Het |
| Prop1 |
C |
T |
11: 50,844,153 (GRCm39) |
V27M |
probably damaging |
Het |
| Rfx4 |
T |
G |
10: 84,650,625 (GRCm39) |
|
probably null |
Het |
| Slc6a5 |
T |
A |
7: 49,595,260 (GRCm39) |
F541I |
probably damaging |
Het |
| Srgap3 |
A |
T |
6: 112,699,807 (GRCm39) |
V1057E |
possibly damaging |
Het |
| Synpo2 |
A |
T |
3: 122,907,946 (GRCm39) |
W457R |
probably damaging |
Het |
| Tet2 |
T |
A |
3: 133,193,721 (GRCm39) |
N238Y |
possibly damaging |
Het |
| Tiam2 |
T |
A |
17: 3,487,540 (GRCm39) |
M687K |
probably damaging |
Het |
| Ticrr |
A |
G |
7: 79,346,438 (GRCm39) |
E1866G |
probably benign |
Het |
| Tspan8 |
T |
C |
10: 115,669,156 (GRCm39) |
S64P |
possibly damaging |
Het |
| Ugt2b37 |
C |
T |
5: 87,402,265 (GRCm39) |
G122D |
probably benign |
Het |
| Uqcrc2 |
A |
G |
7: 120,237,111 (GRCm39) |
E53G |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,852,071 (GRCm39) |
D963G |
probably damaging |
Het |
| Vmn2r24 |
T |
A |
6: 123,764,226 (GRCm39) |
Y368N |
possibly damaging |
Het |
| Wdr5 |
A |
G |
2: 27,418,323 (GRCm39) |
T208A |
probably benign |
Het |
| Zbtb18 |
A |
G |
1: 177,275,936 (GRCm39) |
Y423C |
probably damaging |
Het |
| Zc3h6 |
A |
G |
2: 128,839,696 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
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'- ATAACAGCACTGGGTAGCTG -3'
(R):5'- ACGCAGTGGGTAGATGTAGC -3'
Sequencing Primer
(F):5'- CAAGTGTGTGCGATCTGAGTCAC -3'
(R):5'- TAGATGTAGCCGTGCTGCGC -3'
|
| Posted On |
2017-10-20 |
Incidental Mutation