Incidental Mutation 'IGL02150:Rgs11'
| ID |
281977 |
| 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 # |
IGL02150
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
26421925-26430298 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 26421968 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 6
(T6S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113885
(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 |
probably benign
Transcript: ENSMUST00000025020
AA Change: T8S
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000025020
Gene: ENSMUSG00000024186
AA Change: T8S
| 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 |
probably benign
Transcript: ENSMUST00000122058
AA Change: T6S
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000113885
Gene: ENSMUSG00000024186
AA Change: T6S
| 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: ENSMUST00000147220
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126464
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152676
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176847
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155556
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146683
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155072
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139639
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127594
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152299
|
| 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 |
probably benign
Transcript: ENSMUST00000142410
|
| SMART Domains |
Protein: ENSMUSP00000115267
Gene: ENSMUSG00000024184
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thioredoxin
|
38 |
145 |
3.8e-25 |
PFAM |
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankdd1a |
C |
T |
9: 65,420,001 (GRCm39) |
G92S |
probably damaging |
Het |
| Arid1a |
A |
T |
4: 133,414,568 (GRCm39) |
M1221K |
unknown |
Het |
| Arl10 |
G |
A |
13: 54,726,662 (GRCm39) |
V147M |
probably damaging |
Het |
| Bbs4 |
T |
C |
9: 59,243,651 (GRCm39) |
N152S |
probably benign |
Het |
| Cacna2d2 |
T |
G |
9: 107,404,515 (GRCm39) |
|
probably benign |
Het |
| Capn9 |
A |
G |
8: 125,340,582 (GRCm39) |
E582G |
probably benign |
Het |
| Cct2 |
A |
T |
10: 116,898,004 (GRCm39) |
L61Q |
probably damaging |
Het |
| Clip4 |
A |
G |
17: 72,106,071 (GRCm39) |
I85V |
probably damaging |
Het |
| Daam2 |
A |
T |
17: 49,797,332 (GRCm39) |
L151Q |
possibly damaging |
Het |
| Dlst |
T |
A |
12: 85,177,807 (GRCm39) |
I400N |
possibly damaging |
Het |
| Dock7 |
A |
T |
4: 98,968,089 (GRCm39) |
|
probably benign |
Het |
| Dynlrb2 |
A |
G |
8: 117,242,449 (GRCm39) |
N93S |
probably benign |
Het |
| Efl1 |
A |
G |
7: 82,335,899 (GRCm39) |
T407A |
probably benign |
Het |
| Emilin1 |
A |
G |
5: 31,077,517 (GRCm39) |
D891G |
possibly damaging |
Het |
| Enpp4 |
A |
C |
17: 44,413,049 (GRCm39) |
S162A |
probably benign |
Het |
| Epas1 |
A |
G |
17: 87,112,717 (GRCm39) |
D105G |
probably damaging |
Het |
| Fcgbpl1 |
T |
A |
7: 27,846,204 (GRCm39) |
Y965* |
probably null |
Het |
| Gcn1 |
T |
A |
5: 115,747,927 (GRCm39) |
I1778N |
probably damaging |
Het |
| Gm14496 |
A |
C |
2: 181,633,140 (GRCm39) |
D41A |
probably damaging |
Het |
| Gm7008 |
T |
A |
12: 40,273,257 (GRCm39) |
|
probably benign |
Het |
| Hcfc2 |
G |
A |
10: 82,545,852 (GRCm39) |
S246N |
probably damaging |
Het |
| Hectd1 |
T |
C |
12: 51,815,974 (GRCm39) |
N1366S |
probably damaging |
Het |
| Lgmn |
T |
C |
12: 102,361,986 (GRCm39) |
R372G |
possibly damaging |
Het |
| Map2k7 |
A |
G |
8: 4,293,818 (GRCm39) |
M153V |
possibly damaging |
Het |
| Megf8 |
T |
A |
7: 25,045,842 (GRCm39) |
|
probably null |
Het |
| Mgat4c |
A |
C |
10: 102,224,983 (GRCm39) |
E399A |
probably benign |
Het |
| Myorg |
A |
G |
4: 41,499,183 (GRCm39) |
V149A |
possibly damaging |
Het |
| Nfat5 |
C |
T |
8: 108,094,584 (GRCm39) |
Q942* |
probably null |
Het |
| Notch4 |
A |
G |
17: 34,803,587 (GRCm39) |
E1502G |
probably damaging |
Het |
| Optn |
A |
C |
2: 5,037,963 (GRCm39) |
I410M |
probably damaging |
Het |
| Or6b9 |
G |
T |
7: 106,555,763 (GRCm39) |
P127T |
probably damaging |
Het |
| Or8c17 |
A |
T |
9: 38,180,564 (GRCm39) |
I252L |
possibly damaging |
Het |
| Ppp1ca |
G |
A |
19: 4,244,698 (GRCm39) |
|
probably benign |
Het |
| Pramel5 |
C |
A |
4: 143,999,771 (GRCm39) |
L105F |
possibly damaging |
Het |
| Rad54b |
T |
A |
4: 11,610,502 (GRCm39) |
N706K |
probably damaging |
Het |
| Sbf1 |
T |
C |
15: 89,179,683 (GRCm39) |
H1308R |
probably benign |
Het |
| Scart2 |
G |
A |
7: 139,877,772 (GRCm39) |
G918D |
possibly damaging |
Het |
| Sec31a |
T |
C |
5: 100,533,984 (GRCm39) |
|
probably benign |
Het |
| Sh2d5 |
G |
A |
4: 137,985,553 (GRCm39) |
D334N |
probably benign |
Het |
| Skint5 |
T |
A |
4: 113,742,988 (GRCm39) |
I360F |
unknown |
Het |
| Slc12a1 |
G |
A |
2: 125,026,735 (GRCm39) |
D457N |
probably damaging |
Het |
| Slco2a1 |
C |
T |
9: 102,962,017 (GRCm39) |
A563V |
probably damaging |
Het |
| Snrnp35 |
G |
A |
5: 124,628,471 (GRCm39) |
A95T |
probably damaging |
Het |
| Snx25 |
C |
A |
8: 46,569,318 (GRCm39) |
R193L |
possibly damaging |
Het |
| Stxbp5 |
T |
G |
10: 9,638,565 (GRCm39) |
Q1078P |
probably damaging |
Het |
| Tmc2 |
A |
T |
2: 130,082,073 (GRCm39) |
I419F |
probably damaging |
Het |
| Tmem87a |
A |
T |
2: 120,190,557 (GRCm39) |
W525R |
probably damaging |
Het |
| Trhde |
A |
T |
10: 114,428,013 (GRCm39) |
S428T |
probably damaging |
Het |
| Trp73 |
G |
A |
4: 154,165,943 (GRCm39) |
A42V |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,679,316 (GRCm39) |
|
probably benign |
Het |
| Ttn |
C |
T |
2: 76,598,846 (GRCm39) |
V19356M |
probably damaging |
Het |
| Vmn1r170 |
T |
A |
7: 23,306,465 (GRCm39) |
L289* |
probably null |
Het |
| Vwa5b2 |
A |
T |
16: 20,423,576 (GRCm39) |
Q1163L |
probably benign |
Het |
| Washc2 |
T |
A |
6: 116,208,593 (GRCm39) |
|
probably benign |
Het |
| Wdr70 |
T |
G |
15: 8,112,030 (GRCm39) |
K71T |
possibly damaging |
Het |
| Zbtb41 |
T |
C |
1: 139,368,186 (GRCm39) |
S625P |
possibly damaging |
Het |
| Zfp518b |
A |
G |
5: 38,830,686 (GRCm39) |
S440P |
probably damaging |
Het |
| Zfp518b |
A |
G |
5: 38,831,132 (GRCm39) |
V291A |
probably damaging |
Het |
| Zmym2 |
G |
A |
14: 57,148,526 (GRCm39) |
|
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 |
|
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 |
|
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