Incidental Mutation 'IGL00840:Rgs20'
| ID |
13815 |
| 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 # |
IGL00840
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
4979799-5140508 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 5140238 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 55
(V55I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113398
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118000]
[ENSMUST00000147158]
[ENSMUST00000192847]
|
| AlphaFold |
Q9QZB1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118000
AA Change: V55I
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000113398
Gene: ENSMUSG00000002459
AA Change: V55I
| 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 |
noncoding transcript
Transcript: ENSMUST00000133521
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147158
AA Change: V55I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000117380
Gene: ENSMUSG00000002459
AA Change: V55I
| 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: ENSMUST00000192847
|
| SMART Domains |
Protein: ENSMUSP00000141636
Gene: ENSMUSG00000033793
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V-ATPase_H_N
|
17 |
342 |
1e-102 |
PFAM |
|
Pfam:V-ATPase_H_C
|
332 |
423 |
2.7e-25 |
PFAM |
|
Pfam:Arm_2
|
339 |
427 |
4.6e-5 |
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 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
T |
C |
15: 94,180,363 (GRCm39) |
Y1764C |
probably damaging |
Het |
| Agbl3 |
T |
C |
6: 34,776,094 (GRCm39) |
V200A |
possibly damaging |
Het |
| Akr1b10 |
T |
C |
6: 34,371,041 (GRCm39) |
S264P |
possibly damaging |
Het |
| Camkmt |
T |
G |
17: 85,765,551 (GRCm39) |
L319* |
probably null |
Het |
| Cdhr2 |
T |
C |
13: 54,867,965 (GRCm39) |
W513R |
probably damaging |
Het |
| Cts8 |
T |
C |
13: 61,399,392 (GRCm39) |
Y189C |
probably damaging |
Het |
| Cyp2d10 |
T |
A |
15: 82,288,691 (GRCm39) |
T264S |
probably benign |
Het |
| Dbt |
G |
A |
3: 116,339,763 (GRCm39) |
G384S |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 31,009,915 (GRCm39) |
V3769M |
probably damaging |
Het |
| Dnajc16 |
C |
A |
4: 141,495,314 (GRCm39) |
G468V |
probably damaging |
Het |
| Eif3d |
A |
T |
15: 77,846,069 (GRCm39) |
N351K |
probably benign |
Het |
| F5 |
T |
C |
1: 164,007,093 (GRCm39) |
M299T |
probably benign |
Het |
| Fcamr |
G |
A |
1: 130,740,951 (GRCm39) |
V457M |
probably benign |
Het |
| Heatr5b |
A |
G |
17: 79,072,866 (GRCm39) |
L1599P |
probably damaging |
Het |
| Kl |
A |
T |
5: 150,904,252 (GRCm39) |
I335F |
possibly damaging |
Het |
| Knop1 |
A |
G |
7: 118,452,021 (GRCm39) |
Y233H |
probably damaging |
Het |
| Lhcgr |
T |
C |
17: 89,061,164 (GRCm39) |
|
probably benign |
Het |
| Lypd11 |
A |
T |
7: 24,422,931 (GRCm39) |
L129H |
probably damaging |
Het |
| Macrod2 |
A |
T |
2: 142,018,578 (GRCm39) |
N237I |
possibly damaging |
Het |
| Myo7a |
T |
C |
7: 97,700,866 (GRCm39) |
S2168G |
probably benign |
Het |
| Naxe |
T |
C |
3: 87,965,290 (GRCm39) |
I108V |
probably benign |
Het |
| Ncbp1 |
T |
A |
4: 46,161,307 (GRCm39) |
W428R |
probably damaging |
Het |
| Nxpe3 |
T |
C |
16: 55,664,595 (GRCm39) |
I542V |
probably damaging |
Het |
| Phkb |
T |
A |
8: 86,684,216 (GRCm39) |
S424R |
probably benign |
Het |
| Ros1 |
T |
G |
10: 52,020,969 (GRCm39) |
T648P |
possibly damaging |
Het |
| Rpgr |
T |
C |
X: 10,074,948 (GRCm39) |
I233V |
possibly damaging |
Het |
| Slc25a31 |
T |
C |
3: 40,679,308 (GRCm39) |
S258P |
probably benign |
Het |
| Soat1 |
A |
C |
1: 156,261,766 (GRCm39) |
V414G |
probably damaging |
Het |
| St18 |
A |
T |
1: 6,903,818 (GRCm39) |
E693V |
probably damaging |
Het |
| Svil |
T |
C |
18: 5,063,555 (GRCm39) |
V1029A |
probably benign |
Het |
| Tnfaip3 |
C |
A |
10: 18,880,874 (GRCm39) |
V398L |
probably damaging |
Het |
| Ubap1 |
A |
G |
4: 41,379,562 (GRCm39) |
T259A |
probably benign |
Het |
| Wdr7 |
A |
G |
18: 64,060,398 (GRCm39) |
E1347G |
possibly damaging |
Het |
|
| Other mutations in Rgs20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01433:Rgs20
|
APN |
1 |
5,140,300 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL01691:Rgs20
|
APN |
1 |
4,987,145 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2012-12-06 |
Incidental Mutation