Incidental Mutation 'IGL01691:Rgs20'
ID |
104109 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rgs20
|
Ensembl Gene |
ENSMUSG00000002459 |
Gene Name |
regulator of G-protein signaling 20 |
Synonyms |
Rgsz1, 2900073E09Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01691
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
4979799-5140508 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 4987145 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 124
(T124A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117380
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002533]
[ENSMUST00000118000]
[ENSMUST00000119256]
[ENSMUST00000147158]
[ENSMUST00000170566]
|
AlphaFold |
Q9QZB1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002533
AA Change: T91A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000002533 Gene: ENSMUSG00000002459 AA Change: T91A
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
19 |
N/A |
INTRINSIC |
low complexity region
|
59 |
71 |
N/A |
INTRINSIC |
RGS
|
113 |
229 |
2.09e-48 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118000
AA Change: T224A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000113398 Gene: ENSMUSG00000002459 AA Change: T224A
Domain | Start | End | E-Value | Type |
low complexity region
|
123 |
135 |
N/A |
INTRINSIC |
low complexity region
|
150 |
161 |
N/A |
INTRINSIC |
low complexity region
|
192 |
204 |
N/A |
INTRINSIC |
RGS
|
246 |
362 |
2.09e-48 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000119256
AA Change: T60A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000113324 Gene: ENSMUSG00000002459 AA Change: T60A
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
40 |
N/A |
INTRINSIC |
RGS
|
82 |
198 |
2.09e-48 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147158
AA Change: T124A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000117380 Gene: ENSMUSG00000002459 AA Change: T124A
Domain | Start | End | E-Value | Type |
low complexity region
|
92 |
104 |
N/A |
INTRINSIC |
Pfam:RGS
|
146 |
200 |
2.8e-16 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170566
|
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 family of regulator of G protein signaling (RGS) proteins, which are regulatory and structural components of G protein-coupled receptor complexes. RGS proteins inhibit signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound forms. This protein selectively binds to G(z)-alpha and G(alpha)-i2 subunits, and regulates their signaling activities. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl6a |
T |
A |
3: 32,774,349 (GRCm39) |
M282K |
possibly damaging |
Het |
Adam22 |
T |
C |
5: 8,142,742 (GRCm39) |
N831S |
probably damaging |
Het |
Adamdec1 |
C |
T |
14: 68,810,556 (GRCm39) |
R200Q |
probably damaging |
Het |
Asb15 |
A |
G |
6: 24,567,271 (GRCm39) |
I531V |
probably benign |
Het |
Btrc |
T |
A |
19: 45,501,117 (GRCm39) |
D223E |
probably benign |
Het |
Ccdc30 |
T |
A |
4: 119,250,761 (GRCm39) |
E161V |
probably damaging |
Het |
Cd38 |
G |
A |
5: 44,060,928 (GRCm39) |
|
probably benign |
Het |
Clec2d |
T |
C |
6: 129,161,185 (GRCm39) |
F94S |
probably damaging |
Het |
Cwf19l1 |
C |
T |
19: 44,109,311 (GRCm39) |
|
probably null |
Het |
Dnah2 |
A |
T |
11: 69,430,269 (GRCm39) |
N96K |
probably benign |
Het |
Ephb6 |
G |
A |
6: 41,591,449 (GRCm39) |
R202H |
probably benign |
Het |
Gm43191 |
T |
A |
3: 116,471,616 (GRCm39) |
I218L |
probably benign |
Het |
Gm7168 |
G |
A |
17: 14,169,140 (GRCm39) |
S169N |
probably damaging |
Het |
Gm7964 |
T |
C |
7: 83,405,344 (GRCm39) |
|
noncoding transcript |
Het |
Kif20b |
T |
C |
19: 34,913,143 (GRCm39) |
|
probably benign |
Het |
Kmt2e |
A |
G |
5: 23,702,089 (GRCm39) |
T906A |
probably benign |
Het |
Mboat2 |
A |
G |
12: 25,004,221 (GRCm39) |
N341D |
probably damaging |
Het |
Msh6 |
T |
C |
17: 88,292,907 (GRCm39) |
V554A |
probably benign |
Het |
Ndc80 |
T |
C |
17: 71,815,634 (GRCm39) |
T384A |
possibly damaging |
Het |
Or1af1 |
G |
T |
2: 37,110,038 (GRCm39) |
C179F |
probably damaging |
Het |
Or8g18 |
G |
A |
9: 39,149,315 (GRCm39) |
T135I |
probably benign |
Het |
Ptpn5 |
G |
T |
7: 46,732,906 (GRCm39) |
H312Q |
probably benign |
Het |
Rftn2 |
C |
T |
1: 55,253,445 (GRCm39) |
V53I |
probably damaging |
Het |
Sox18 |
T |
C |
2: 181,313,143 (GRCm39) |
S58G |
possibly damaging |
Het |
Togaram2 |
A |
G |
17: 72,036,485 (GRCm39) |
M1012V |
probably null |
Het |
Usp48 |
A |
T |
4: 137,350,583 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Rgs20 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00840:Rgs20
|
APN |
1 |
5,140,238 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01433:Rgs20
|
APN |
1 |
5,140,300 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0573:Rgs20
|
UTSW |
1 |
5,091,037 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1274:Rgs20
|
UTSW |
1 |
4,982,670 (GRCm39) |
missense |
probably damaging |
1.00 |
R1305:Rgs20
|
UTSW |
1 |
5,091,262 (GRCm39) |
splice site |
probably null |
|
R1513:Rgs20
|
UTSW |
1 |
4,982,560 (GRCm39) |
missense |
probably damaging |
1.00 |
R1568:Rgs20
|
UTSW |
1 |
5,091,050 (GRCm39) |
missense |
probably benign |
0.00 |
R1763:Rgs20
|
UTSW |
1 |
4,980,863 (GRCm39) |
missense |
probably damaging |
1.00 |
R1794:Rgs20
|
UTSW |
1 |
4,980,795 (GRCm39) |
missense |
probably damaging |
1.00 |
R2118:Rgs20
|
UTSW |
1 |
4,987,113 (GRCm39) |
splice site |
probably benign |
|
R2437:Rgs20
|
UTSW |
1 |
5,140,370 (GRCm39) |
splice site |
probably null |
|
R3029:Rgs20
|
UTSW |
1 |
5,140,276 (GRCm39) |
missense |
probably benign |
0.00 |
R4665:Rgs20
|
UTSW |
1 |
5,091,231 (GRCm39) |
missense |
probably benign |
0.00 |
R5014:Rgs20
|
UTSW |
1 |
4,980,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R5433:Rgs20
|
UTSW |
1 |
5,140,333 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5620:Rgs20
|
UTSW |
1 |
4,982,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R5880:Rgs20
|
UTSW |
1 |
4,994,104 (GRCm39) |
missense |
probably damaging |
0.99 |
R5990:Rgs20
|
UTSW |
1 |
4,982,553 (GRCm39) |
missense |
probably benign |
0.11 |
R6188:Rgs20
|
UTSW |
1 |
5,091,106 (GRCm39) |
frame shift |
probably null |
|
R7323:Rgs20
|
UTSW |
1 |
4,982,535 (GRCm39) |
critical splice donor site |
probably null |
|
R7459:Rgs20
|
UTSW |
1 |
4,980,857 (GRCm39) |
missense |
probably benign |
0.04 |
R7467:Rgs20
|
UTSW |
1 |
4,982,553 (GRCm39) |
missense |
probably benign |
0.11 |
R8101:Rgs20
|
UTSW |
1 |
4,982,638 (GRCm39) |
missense |
probably benign |
0.16 |
R9087:Rgs20
|
UTSW |
1 |
4,994,190 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9193:Rgs20
|
UTSW |
1 |
5,091,067 (GRCm39) |
missense |
possibly damaging |
0.65 |
R9443:Rgs20
|
UTSW |
1 |
4,982,629 (GRCm39) |
nonsense |
probably null |
|
R9725:Rgs20
|
UTSW |
1 |
4,980,793 (GRCm39) |
nonsense |
probably null |
|
Z1176:Rgs20
|
UTSW |
1 |
5,140,337 (GRCm39) |
missense |
probably benign |
|
Z1177:Rgs20
|
UTSW |
1 |
5,091,242 (GRCm39) |
frame shift |
probably null |
|
|
Posted On |
2014-01-21 |