Incidental Mutation 'IGL01373:Rgs1'
ID |
84095 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rgs1
|
Ensembl Gene |
ENSMUSG00000026358 |
Gene Name |
regulator of G-protein signaling 1 |
Synonyms |
BL34 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.115)
|
Stock # |
IGL01373
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
144120407-144124862 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 144121116 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 185
(D185V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140624
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167317]
[ENSMUST00000169409]
[ENSMUST00000172388]
[ENSMUST00000185714]
[ENSMUST00000189061]
|
AlphaFold |
Q9JL25 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000167317
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167812
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169042
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169409
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170870
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172388
|
SMART Domains |
Protein: ENSMUSP00000130339 Gene: ENSMUSG00000026358
Domain | Start | End | E-Value | Type |
RGS
|
85 |
200 |
5.59e-49 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000185714
|
SMART Domains |
Protein: ENSMUSP00000140902 Gene: ENSMUSG00000026358
Domain | Start | End | E-Value | Type |
RGS
|
58 |
128 |
2.8e-7 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000189061
AA Change: D185V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140624 Gene: ENSMUSG00000026358 AA Change: D185V
Domain | Start | End | E-Value | Type |
RGS
|
85 |
200 |
5.59e-49 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189916
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the regulator of G-protein signalling family. This protein is located on the cytosolic side of the plasma membrane and contains a conserved, 120 amino acid motif called the RGS domain. The protein attenuates the signalling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous null mice display increased splenic B cell germinal centers, increased chemotactic responses in B cells and immature dendritic cells, and decreased antibody secreting cell numbers. [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 |
Acsm4 |
C |
T |
7: 119,310,642 (GRCm39) |
R510* |
probably null |
Het |
Adamts12 |
A |
T |
15: 11,310,816 (GRCm39) |
E1024D |
probably benign |
Het |
Aff2 |
T |
A |
X: 68,911,335 (GRCm39) |
D1239E |
possibly damaging |
Het |
Agps |
T |
C |
2: 75,683,128 (GRCm39) |
V151A |
probably benign |
Het |
Cables1 |
A |
T |
18: 12,021,821 (GRCm39) |
R276S |
probably damaging |
Het |
Cep72 |
A |
G |
13: 74,207,578 (GRCm39) |
S64P |
probably damaging |
Het |
Cmah |
A |
T |
13: 24,614,532 (GRCm39) |
D159V |
probably damaging |
Het |
Cox6a1 |
C |
A |
5: 115,483,898 (GRCm39) |
|
probably benign |
Het |
Cpxm1 |
T |
C |
2: 130,236,055 (GRCm39) |
E369G |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 73,051,731 (GRCm39) |
L3021P |
probably benign |
Het |
Esyt1 |
T |
C |
10: 128,354,810 (GRCm39) |
E530G |
possibly damaging |
Het |
Fancd2 |
A |
G |
6: 113,530,713 (GRCm39) |
I449V |
probably benign |
Het |
Fbxw24 |
C |
T |
9: 109,452,701 (GRCm39) |
G98D |
probably damaging |
Het |
Folh1 |
T |
C |
7: 86,395,350 (GRCm39) |
I361V |
probably benign |
Het |
Gpr19 |
T |
A |
6: 134,847,284 (GRCm39) |
H41L |
possibly damaging |
Het |
Kcnq4 |
A |
G |
4: 120,574,229 (GRCm39) |
V143A |
probably damaging |
Het |
Larp7-ps |
A |
G |
4: 92,079,862 (GRCm39) |
V42A |
probably damaging |
Het |
Lmcd1 |
A |
G |
6: 112,287,586 (GRCm39) |
I91V |
probably benign |
Het |
Lpin3 |
G |
T |
2: 160,745,649 (GRCm39) |
D651Y |
probably damaging |
Het |
Ms4a6b |
A |
T |
19: 11,506,871 (GRCm39) |
H220L |
possibly damaging |
Het |
Mxd4 |
G |
A |
5: 34,341,690 (GRCm39) |
|
probably benign |
Het |
Nxnl2 |
T |
C |
13: 51,325,488 (GRCm39) |
F44L |
probably damaging |
Het |
Or11g2 |
T |
A |
14: 50,856,069 (GRCm39) |
I130N |
probably damaging |
Het |
Or2ag16 |
T |
C |
7: 106,351,653 (GRCm39) |
|
probably benign |
Het |
Pcdhb20 |
A |
T |
18: 37,639,621 (GRCm39) |
R716W |
probably benign |
Het |
Pcx |
T |
A |
19: 4,670,263 (GRCm39) |
|
probably null |
Het |
Plekhf1 |
T |
C |
7: 37,921,221 (GRCm39) |
T116A |
probably benign |
Het |
Psmb2 |
G |
T |
4: 126,580,885 (GRCm39) |
R93L |
probably damaging |
Het |
Pstpip2 |
T |
A |
18: 77,922,916 (GRCm39) |
L42* |
probably null |
Het |
Ptpn22 |
A |
T |
3: 103,793,520 (GRCm39) |
D557V |
probably damaging |
Het |
Rbbp5 |
G |
A |
1: 132,420,339 (GRCm39) |
V191I |
probably benign |
Het |
Selenoh |
A |
G |
2: 84,500,938 (GRCm39) |
|
probably benign |
Het |
Slc6a5 |
C |
T |
7: 49,567,481 (GRCm39) |
P312S |
probably benign |
Het |
Snapc1 |
T |
A |
12: 74,011,454 (GRCm39) |
M40K |
probably benign |
Het |
Sptbn2 |
T |
G |
19: 4,796,000 (GRCm39) |
Y1726* |
probably null |
Het |
Syne2 |
T |
C |
12: 76,033,881 (GRCm39) |
I3710T |
probably damaging |
Het |
Tdrd9 |
G |
A |
12: 112,006,868 (GRCm39) |
V911M |
probably damaging |
Het |
Tex9 |
A |
T |
9: 72,388,036 (GRCm39) |
D134E |
possibly damaging |
Het |
Ttc41 |
G |
T |
10: 86,611,821 (GRCm39) |
C1063F |
possibly damaging |
Het |
Usp38 |
C |
A |
8: 81,716,647 (GRCm39) |
A496S |
possibly damaging |
Het |
Vmn2r13 |
T |
A |
5: 109,304,568 (GRCm39) |
Y621F |
probably damaging |
Het |
Vmn2r67 |
T |
A |
7: 84,785,834 (GRCm39) |
M724L |
probably benign |
Het |
|
Other mutations in Rgs1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0106:Rgs1
|
UTSW |
1 |
144,124,287 (GRCm39) |
missense |
probably benign |
0.31 |
R0106:Rgs1
|
UTSW |
1 |
144,124,287 (GRCm39) |
missense |
probably benign |
0.31 |
R0149:Rgs1
|
UTSW |
1 |
144,124,825 (GRCm39) |
start gained |
probably benign |
|
R0295:Rgs1
|
UTSW |
1 |
144,121,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R0833:Rgs1
|
UTSW |
1 |
144,123,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R0836:Rgs1
|
UTSW |
1 |
144,123,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R1585:Rgs1
|
UTSW |
1 |
144,121,227 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4373:Rgs1
|
UTSW |
1 |
144,123,644 (GRCm39) |
missense |
probably benign |
0.00 |
R4375:Rgs1
|
UTSW |
1 |
144,123,644 (GRCm39) |
missense |
probably benign |
0.00 |
R4769:Rgs1
|
UTSW |
1 |
144,123,667 (GRCm39) |
missense |
probably damaging |
1.00 |
R4961:Rgs1
|
UTSW |
1 |
144,124,309 (GRCm39) |
splice site |
probably null |
|
R4992:Rgs1
|
UTSW |
1 |
144,122,060 (GRCm39) |
missense |
probably damaging |
1.00 |
R5427:Rgs1
|
UTSW |
1 |
144,122,018 (GRCm39) |
nonsense |
probably null |
|
R5614:Rgs1
|
UTSW |
1 |
144,121,995 (GRCm39) |
missense |
probably benign |
0.18 |
R5743:Rgs1
|
UTSW |
1 |
144,121,110 (GRCm39) |
missense |
probably damaging |
1.00 |
R7315:Rgs1
|
UTSW |
1 |
144,124,637 (GRCm39) |
critical splice donor site |
probably null |
|
R7491:Rgs1
|
UTSW |
1 |
144,121,134 (GRCm39) |
missense |
probably damaging |
1.00 |
R7633:Rgs1
|
UTSW |
1 |
144,124,215 (GRCm39) |
critical splice donor site |
probably null |
|
R9640:Rgs1
|
UTSW |
1 |
144,121,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-11-11 |