Incidental Mutation 'IGL01433:Rgs20'
| ID |
84251 |
| 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 # |
IGL01433
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
4979799-5140508 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5140300 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 34
(D34G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117380
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118000]
[ENSMUST00000147158]
[ENSMUST00000192847]
|
| AlphaFold |
Q9QZB1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118000
AA Change: D34G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113398
Gene: ENSMUSG00000002459
AA Change: D34G
| 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 |
possibly damaging
Transcript: ENSMUST00000147158
AA Change: D34G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000117380
Gene: ENSMUSG00000002459
AA Change: D34G
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actrt3 |
C |
T |
3: 30,652,188 (GRCm39) |
G302D |
probably damaging |
Het |
| Adam19 |
T |
C |
11: 46,003,610 (GRCm39) |
L146P |
probably damaging |
Het |
| Adcy8 |
T |
A |
15: 64,609,263 (GRCm39) |
Y852F |
possibly damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,223,657 (GRCm39) |
T1520A |
probably damaging |
Het |
| Atp8b1 |
C |
T |
18: 64,706,590 (GRCm39) |
V199I |
probably benign |
Het |
| Avl9 |
A |
G |
6: 56,730,382 (GRCm39) |
D575G |
probably damaging |
Het |
| Bcam |
C |
A |
7: 19,494,107 (GRCm39) |
V395L |
possibly damaging |
Het |
| Bltp1 |
T |
G |
3: 36,941,919 (GRCm39) |
S241R |
probably damaging |
Het |
| Ccdc198 |
G |
T |
14: 49,473,341 (GRCm39) |
T128K |
probably benign |
Het |
| Cgn |
T |
A |
3: 94,686,769 (GRCm39) |
N178Y |
probably damaging |
Het |
| D5Ertd579e |
A |
T |
5: 36,776,098 (GRCm39) |
D168E |
probably damaging |
Het |
| Dnah17 |
G |
T |
11: 117,940,760 (GRCm39) |
T3288K |
probably damaging |
Het |
| Ednrb |
A |
T |
14: 104,080,626 (GRCm39) |
I96N |
probably damaging |
Het |
| Gdpd3 |
A |
G |
7: 126,370,356 (GRCm39) |
I264V |
possibly damaging |
Het |
| Itih4 |
T |
C |
14: 30,617,405 (GRCm39) |
V575A |
probably benign |
Het |
| Jhy |
G |
A |
9: 40,828,512 (GRCm39) |
R465C |
possibly damaging |
Het |
| Kcna4 |
C |
T |
2: 107,127,078 (GRCm39) |
S604F |
probably damaging |
Het |
| Kcnj6 |
A |
G |
16: 94,633,814 (GRCm39) |
V99A |
probably benign |
Het |
| Kdm2a |
A |
G |
19: 4,392,888 (GRCm39) |
I489T |
possibly damaging |
Het |
| Kif13a |
A |
G |
13: 46,926,384 (GRCm39) |
S241P |
probably damaging |
Het |
| Lax1 |
T |
C |
1: 133,608,137 (GRCm39) |
I201M |
probably benign |
Het |
| Lzic |
T |
A |
4: 149,572,604 (GRCm39) |
S65T |
probably benign |
Het |
| Marchf9 |
T |
C |
10: 126,892,562 (GRCm39) |
T309A |
probably benign |
Het |
| Ndufc1 |
T |
C |
3: 51,314,797 (GRCm39) |
K70E |
possibly damaging |
Het |
| Optn |
T |
C |
2: 5,031,955 (GRCm39) |
K504R |
probably benign |
Het |
| Or51q1 |
A |
T |
7: 103,628,539 (GRCm39) |
I53F |
probably damaging |
Het |
| Pagr1a |
A |
G |
7: 126,614,647 (GRCm39) |
|
probably benign |
Het |
| Pold1 |
G |
A |
7: 44,192,656 (GRCm39) |
|
probably benign |
Het |
| Ptprq |
A |
G |
10: 107,412,741 (GRCm39) |
I1786T |
probably damaging |
Het |
| Rnps1 |
T |
C |
17: 24,643,519 (GRCm39) |
|
probably null |
Het |
| Rpgrip1 |
T |
C |
14: 52,363,834 (GRCm39) |
V261A |
probably damaging |
Het |
| Sfxn1 |
A |
G |
13: 54,247,935 (GRCm39) |
N220S |
probably benign |
Het |
| Slc35f1 |
T |
A |
10: 52,949,542 (GRCm39) |
|
probably benign |
Het |
| Slc5a4b |
T |
C |
10: 75,906,329 (GRCm39) |
|
probably benign |
Het |
| Snx19 |
A |
G |
9: 30,340,067 (GRCm39) |
I402V |
possibly damaging |
Het |
| Spaca6 |
T |
C |
17: 18,051,429 (GRCm39) |
V35A |
probably benign |
Het |
| Taar2 |
A |
G |
10: 23,816,657 (GRCm39) |
T66A |
probably benign |
Het |
| Tanc2 |
C |
T |
11: 105,701,348 (GRCm39) |
H288Y |
possibly damaging |
Het |
| Tbc1d31 |
A |
G |
15: 57,804,164 (GRCm39) |
Q393R |
probably benign |
Het |
| Trpm1 |
A |
G |
7: 63,854,276 (GRCm39) |
Y133C |
probably damaging |
Het |
| Vmn2r105 |
T |
C |
17: 20,448,817 (GRCm39) |
D120G |
probably benign |
Het |
| Vmn2r56 |
C |
A |
7: 12,449,541 (GRCm39) |
M232I |
probably benign |
Het |
| Vps35l |
A |
G |
7: 118,373,274 (GRCm39) |
|
probably null |
Het |
| Zfp251 |
C |
T |
15: 76,738,755 (GRCm39) |
V113I |
probably benign |
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 |
|
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 |
2013-11-11 |
Incidental Mutation