Incidental Mutation 'R4769:Rgs1'
| ID |
366308 |
| Institutional Source |
Beutler Lab
|
| 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: 0.125)
|
| Stock # |
R4769 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
144120407-144124862 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 144123667 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 86
(L86Q)
|
| 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 damaging
Transcript: ENSMUST00000185714
AA Change: L59Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140902
Gene: ENSMUSG00000026358
AA Change: L59Q
| Domain | Start | End | E-Value | Type |
|---|
|
RGS
|
58 |
128 |
2.8e-7 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000189061
AA Change: L86Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140624
Gene: ENSMUSG00000026358
AA Change: L86Q
| Domain | Start | End | E-Value | Type |
|---|
|
RGS
|
85 |
200 |
5.59e-49 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189916
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
C |
14: 32,382,174 (GRCm39) |
S1264A |
probably benign |
Het |
| Adamts13 |
T |
G |
2: 26,898,723 (GRCm39) |
Y1361* |
probably null |
Het |
| Ahrr |
A |
T |
13: 74,362,331 (GRCm39) |
D389E |
probably damaging |
Het |
| Alx3 |
T |
C |
3: 107,508,007 (GRCm39) |
F172S |
probably damaging |
Het |
| Antxrl |
A |
G |
14: 33,795,027 (GRCm39) |
H485R |
possibly damaging |
Het |
| Aox4 |
A |
G |
1: 58,298,307 (GRCm39) |
D1091G |
probably null |
Het |
| Btbd1 |
T |
A |
7: 81,455,558 (GRCm39) |
Q271L |
probably benign |
Het |
| Cd209c |
A |
T |
8: 3,994,953 (GRCm39) |
N70K |
probably benign |
Het |
| Cdc14a |
C |
T |
3: 116,088,399 (GRCm39) |
|
probably null |
Het |
| Cenpe |
A |
G |
3: 134,953,912 (GRCm39) |
M1641V |
probably benign |
Het |
| Clec2e |
G |
A |
6: 129,077,790 (GRCm39) |
T16I |
probably benign |
Het |
| Clp1 |
T |
C |
2: 84,556,219 (GRCm39) |
D87G |
possibly damaging |
Het |
| Dpy19l1 |
A |
T |
9: 24,337,444 (GRCm39) |
F517I |
probably damaging |
Het |
| Dzip3 |
T |
C |
16: 48,758,837 (GRCm39) |
N646S |
probably damaging |
Het |
| Ephx1 |
T |
A |
1: 180,823,543 (GRCm39) |
Y188F |
possibly damaging |
Het |
| Etfa |
A |
T |
9: 55,403,051 (GRCm39) |
H81Q |
possibly damaging |
Het |
| Gigyf2 |
T |
A |
1: 87,368,571 (GRCm39) |
F1084I |
probably damaging |
Het |
| Heatr3 |
T |
C |
8: 88,868,411 (GRCm39) |
|
probably null |
Het |
| Ift81 |
G |
T |
5: 122,732,656 (GRCm39) |
H293N |
probably benign |
Het |
| Igkv9-120 |
G |
T |
6: 68,027,351 (GRCm39) |
R88S |
possibly damaging |
Het |
| Il6 |
T |
G |
5: 30,223,076 (GRCm39) |
L114* |
probably null |
Het |
| Ism2 |
A |
T |
12: 87,346,355 (GRCm39) |
M42K |
probably benign |
Het |
| Lhx5 |
A |
G |
5: 120,574,503 (GRCm39) |
E269G |
probably benign |
Het |
| Marveld1 |
T |
G |
19: 42,136,434 (GRCm39) |
M116R |
possibly damaging |
Het |
| Micall2 |
A |
G |
5: 139,692,641 (GRCm39) |
S911P |
probably damaging |
Het |
| Mier1 |
G |
A |
4: 102,997,417 (GRCm39) |
R195H |
probably benign |
Het |
| Muc2 |
T |
A |
7: 141,286,260 (GRCm39) |
|
probably null |
Het |
| Mybbp1a |
A |
G |
11: 72,336,466 (GRCm39) |
K486R |
probably damaging |
Het |
| Ncapd2 |
A |
C |
6: 125,162,708 (GRCm39) |
L179R |
probably damaging |
Het |
| Nos1 |
C |
T |
5: 118,081,310 (GRCm39) |
Q1171* |
probably null |
Het |
| Nrg1 |
T |
A |
8: 32,408,000 (GRCm39) |
I78F |
probably damaging |
Het |
| Or5d36 |
T |
G |
2: 87,901,073 (GRCm39) |
T218P |
probably benign |
Het |
| Or6y1 |
T |
G |
1: 174,276,524 (GRCm39) |
F112V |
possibly damaging |
Het |
| Plek2 |
C |
T |
12: 78,953,664 (GRCm39) |
|
probably null |
Het |
| Plod2 |
A |
G |
9: 92,477,325 (GRCm39) |
H339R |
probably damaging |
Het |
| Pold1 |
C |
T |
7: 44,184,495 (GRCm39) |
C835Y |
probably damaging |
Het |
| Polr1a |
A |
G |
6: 71,927,852 (GRCm39) |
I868V |
probably benign |
Het |
| Prss54 |
C |
A |
8: 96,286,003 (GRCm39) |
V357L |
probably benign |
Het |
| Rbbp8 |
T |
A |
18: 11,855,727 (GRCm39) |
S625T |
probably damaging |
Het |
| Ripk4 |
T |
A |
16: 97,545,262 (GRCm39) |
N462Y |
probably damaging |
Het |
| Rsf1 |
C |
T |
7: 97,325,429 (GRCm39) |
L1011F |
probably damaging |
Het |
| Slc19a3 |
G |
A |
1: 82,997,062 (GRCm39) |
T382I |
probably damaging |
Het |
| Slc9a2 |
G |
A |
1: 40,765,534 (GRCm39) |
R308Q |
probably damaging |
Het |
| Top2b |
T |
A |
14: 16,398,991 (GRCm38) |
L537Q |
probably damaging |
Het |
| Trim45 |
C |
A |
3: 100,839,050 (GRCm39) |
|
probably benign |
Het |
| Umodl1 |
G |
T |
17: 31,202,976 (GRCm39) |
R443M |
possibly damaging |
Het |
| Vmn1r11 |
G |
A |
6: 57,114,597 (GRCm39) |
R87K |
probably damaging |
Het |
| Vmn1r78 |
T |
A |
7: 11,886,725 (GRCm39) |
I112N |
probably damaging |
Het |
| Zeb2 |
T |
G |
2: 44,886,447 (GRCm39) |
E825A |
probably damaging |
Het |
| Zfp930 |
A |
T |
8: 69,679,344 (GRCm39) |
I50F |
probably benign |
Het |
|
| Other mutations in Rgs1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01373:Rgs1
|
APN |
1 |
144,121,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTTTGGCAGATTTGTCTAAAGGAC -3'
(R):5'- GCCCATATTAGAGCCAATGAAC -3'
Sequencing Primer
(F):5'- AAGGACAGTGATAAAAATCTAGTGC -3'
(R):5'- ATGTCCACATCAGTTTTCTATTTGTG -3'
|
| Posted On |
2015-12-21 |
Incidental Mutation