Incidental Mutation 'R0561:Rgs8'
ID |
45852 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rgs8
|
Ensembl Gene |
ENSMUSG00000042671 |
Gene Name |
regulator of G-protein signaling 8 |
Synonyms |
6530413N01Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.122)
|
Stock # |
R0561 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
153528612-153573415 bp(+) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
T to C
at 153541668 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121910
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041776]
[ENSMUST00000111810]
[ENSMUST00000111812]
[ENSMUST00000111814]
[ENSMUST00000111815]
[ENSMUST00000124500]
[ENSMUST00000147482]
[ENSMUST00000147700]
[ENSMUST00000152114]
|
AlphaFold |
Q8BXT1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000041776
|
SMART Domains |
Protein: ENSMUSP00000045715 Gene: ENSMUSG00000042671
Domain | Start | End | E-Value | Type |
RGS
|
56 |
172 |
1.83e-53 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000111810
|
SMART Domains |
Protein: ENSMUSP00000107441 Gene: ENSMUSG00000042671
Domain | Start | End | E-Value | Type |
RGS
|
56 |
172 |
1.83e-53 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000111812
|
SMART Domains |
Protein: ENSMUSP00000107443 Gene: ENSMUSG00000042671
Domain | Start | End | E-Value | Type |
RGS
|
56 |
172 |
1.83e-53 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000111814
|
SMART Domains |
Protein: ENSMUSP00000107445 Gene: ENSMUSG00000042671
Domain | Start | End | E-Value | Type |
RGS
|
54 |
170 |
1.83e-53 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000111815
|
SMART Domains |
Protein: ENSMUSP00000107446 Gene: ENSMUSG00000042671
Domain | Start | End | E-Value | Type |
RGS
|
54 |
170 |
1.83e-53 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000124500
|
SMART Domains |
Protein: ENSMUSP00000122518 Gene: ENSMUSG00000042671
Domain | Start | End | E-Value | Type |
Pfam:RGS
|
56 |
99 |
2.3e-14 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000147482
|
SMART Domains |
Protein: ENSMUSP00000118365 Gene: ENSMUSG00000042671
Domain | Start | End | E-Value | Type |
Pfam:RGS
|
54 |
115 |
6.5e-19 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000147700
|
SMART Domains |
Protein: ENSMUSP00000123565 Gene: ENSMUSG00000042671
Domain | Start | End | E-Value | Type |
Pfam:RGS
|
56 |
115 |
1.1e-18 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000152114
|
SMART Domains |
Protein: ENSMUSP00000121910 Gene: ENSMUSG00000042671
Domain | Start | End | E-Value | Type |
RGS
|
56 |
137 |
1.52e-18 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147794
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.6%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the regulator of G protein signaling (RGS) family and encodes a protein with a single RGS domain. Regulator of G protein signaling (RGS) proteins are regulatory and structural components of G protein-coupled receptor complexes. They accelerate transit through the cycle of GTP binding and hydrolysis to GDP, thereby terminating signal transduction, but paradoxically, also accelerate receptor-stimulated activation. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal fertility and Purkinje cell morphology. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adck1 |
A |
G |
12: 88,335,204 (GRCm39) |
D30G |
possibly damaging |
Het |
Apc |
A |
T |
18: 34,446,356 (GRCm39) |
H1050L |
possibly damaging |
Het |
Armc2 |
A |
G |
10: 41,869,188 (GRCm39) |
V166A |
probably benign |
Het |
Atp6v1b1 |
A |
T |
6: 83,730,793 (GRCm39) |
I173F |
probably damaging |
Het |
Bpifb4 |
A |
G |
2: 153,786,742 (GRCm39) |
D298G |
probably damaging |
Het |
C4b |
T |
A |
17: 34,953,391 (GRCm39) |
S1031C |
probably damaging |
Het |
Calcr |
A |
G |
6: 3,692,630 (GRCm39) |
I408T |
probably damaging |
Het |
Catsperg1 |
T |
C |
7: 28,881,737 (GRCm39) |
N1009S |
probably damaging |
Het |
Ces2a |
T |
C |
8: 105,464,165 (GRCm39) |
S266P |
probably benign |
Het |
Chrna1 |
A |
G |
2: 73,396,596 (GRCm39) |
V433A |
possibly damaging |
Het |
Ctnnb1 |
G |
A |
9: 120,780,788 (GRCm39) |
V291M |
probably damaging |
Het |
Dcbld1 |
T |
C |
10: 52,138,032 (GRCm39) |
Y99H |
probably benign |
Het |
Ddx60 |
A |
T |
8: 62,470,828 (GRCm39) |
H1440L |
possibly damaging |
Het |
Dsg1c |
A |
T |
18: 20,407,832 (GRCm39) |
I393L |
probably benign |
Het |
Eif5 |
G |
T |
12: 111,506,950 (GRCm39) |
R128L |
probably benign |
Het |
Ercc3 |
A |
G |
18: 32,378,592 (GRCm39) |
D191G |
possibly damaging |
Het |
Gp1ba |
A |
T |
11: 70,530,416 (GRCm39) |
|
probably benign |
Het |
Krt24 |
C |
T |
11: 99,175,439 (GRCm39) |
E199K |
probably damaging |
Het |
Lrif1 |
G |
T |
3: 106,639,481 (GRCm39) |
A164S |
probably damaging |
Het |
Map2 |
A |
G |
1: 66,464,656 (GRCm39) |
D1682G |
probably damaging |
Het |
Megf8 |
C |
T |
7: 25,028,257 (GRCm39) |
P274S |
probably benign |
Het |
Mslnl |
C |
T |
17: 25,962,177 (GRCm39) |
Q192* |
probably null |
Het |
Nfkb2 |
T |
C |
19: 46,298,301 (GRCm39) |
V535A |
possibly damaging |
Het |
Or10q1 |
A |
T |
19: 13,726,662 (GRCm39) |
Y64F |
probably damaging |
Het |
Or4a66 |
A |
G |
2: 88,530,914 (GRCm39) |
I253T |
possibly damaging |
Het |
Or4c11 |
T |
A |
2: 88,695,024 (GRCm39) |
V25E |
possibly damaging |
Het |
Or7a37 |
T |
A |
10: 78,805,729 (GRCm39) |
L82* |
probably null |
Het |
Or8b37 |
G |
T |
9: 37,959,123 (GRCm39) |
V202L |
probably benign |
Het |
Or8g22 |
C |
T |
9: 38,958,669 (GRCm39) |
M15I |
probably damaging |
Het |
Pag1 |
T |
A |
3: 9,764,481 (GRCm39) |
Y224F |
probably damaging |
Het |
Pbrm1 |
A |
C |
14: 30,757,948 (GRCm39) |
I193L |
probably benign |
Het |
Phrf1 |
T |
C |
7: 140,834,876 (GRCm39) |
V17A |
probably benign |
Het |
Plekhg2 |
T |
G |
7: 28,069,908 (GRCm39) |
T42P |
probably benign |
Het |
Pmp22 |
T |
A |
11: 63,025,250 (GRCm39) |
W28R |
probably damaging |
Het |
Ppp1r13b |
A |
T |
12: 111,832,880 (GRCm39) |
H82Q |
probably damaging |
Het |
Rtl1 |
A |
G |
12: 109,560,363 (GRCm39) |
V492A |
probably damaging |
Het |
Slc22a27 |
A |
G |
19: 7,857,527 (GRCm39) |
|
probably null |
Het |
Slx4ip |
A |
G |
2: 136,908,090 (GRCm39) |
E79G |
probably null |
Het |
Syde1 |
C |
T |
10: 78,425,210 (GRCm39) |
R267H |
probably damaging |
Het |
Tas2r114 |
A |
G |
6: 131,666,758 (GRCm39) |
I90T |
probably benign |
Het |
Tjp3 |
C |
T |
10: 81,109,674 (GRCm39) |
G843D |
probably benign |
Het |
Tln1 |
A |
T |
4: 43,550,304 (GRCm39) |
M453K |
possibly damaging |
Het |
Ttc39a |
A |
T |
4: 109,297,799 (GRCm39) |
Y408F |
probably damaging |
Het |
Usp39 |
T |
G |
6: 72,313,368 (GRCm39) |
Q274P |
probably damaging |
Het |
Uvrag |
C |
T |
7: 98,537,768 (GRCm39) |
V476I |
probably damaging |
Het |
Vcan |
T |
A |
13: 89,860,372 (GRCm39) |
T332S |
probably damaging |
Het |
Vcan |
T |
A |
13: 89,879,583 (GRCm39) |
H22L |
possibly damaging |
Het |
Wls |
A |
G |
3: 159,578,705 (GRCm39) |
D89G |
probably benign |
Het |
Zfhx2 |
A |
T |
14: 55,303,346 (GRCm39) |
V1546E |
probably benign |
Het |
Zfp457 |
T |
A |
13: 67,442,134 (GRCm39) |
H147L |
probably damaging |
Het |
|
Other mutations in Rgs8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02100:Rgs8
|
APN |
1 |
153,568,469 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02163:Rgs8
|
APN |
1 |
153,547,511 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL02826:Rgs8
|
APN |
1 |
153,546,545 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03345:Rgs8
|
APN |
1 |
153,568,556 (GRCm39) |
missense |
probably benign |
0.34 |
R0801:Rgs8
|
UTSW |
1 |
153,546,557 (GRCm39) |
missense |
probably damaging |
1.00 |
R3618:Rgs8
|
UTSW |
1 |
153,566,742 (GRCm39) |
missense |
probably null |
0.35 |
R4058:Rgs8
|
UTSW |
1 |
153,566,742 (GRCm39) |
missense |
probably null |
0.35 |
R4059:Rgs8
|
UTSW |
1 |
153,566,742 (GRCm39) |
missense |
probably null |
0.35 |
R4877:Rgs8
|
UTSW |
1 |
153,568,633 (GRCm39) |
unclassified |
probably benign |
|
R5070:Rgs8
|
UTSW |
1 |
153,541,650 (GRCm39) |
missense |
probably damaging |
0.97 |
R5841:Rgs8
|
UTSW |
1 |
153,568,574 (GRCm39) |
missense |
probably damaging |
1.00 |
R6028:Rgs8
|
UTSW |
1 |
153,566,734 (GRCm39) |
missense |
probably damaging |
1.00 |
R6413:Rgs8
|
UTSW |
1 |
153,568,619 (GRCm39) |
missense |
probably damaging |
1.00 |
R7682:Rgs8
|
UTSW |
1 |
153,566,668 (GRCm39) |
missense |
probably damaging |
1.00 |
R8746:Rgs8
|
UTSW |
1 |
153,547,537 (GRCm39) |
missense |
probably damaging |
1.00 |
R8951:Rgs8
|
UTSW |
1 |
153,546,567 (GRCm39) |
missense |
probably damaging |
0.98 |
X0028:Rgs8
|
UTSW |
1 |
153,546,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CATCTCCTGTGTCCTGCCAATGAG -3'
(R):5'- TCACAAGTGACTGGAGCAGACAGC -3'
Sequencing Primer
(F):5'- CAGTATTTACTGGATGTGACAAGCAG -3'
(R):5'- CTCAGCAGGGAGAAAGCAATCA -3'
|
Posted On |
2013-06-11 |