Incidental Mutation 'R4373:Rgs1'
| ID |
326042 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgs1
|
| Ensembl Gene |
ENSMUSG00000026358 |
| Gene Name |
regulator of G-protein signaling 1 |
| Synonyms |
BL34 |
| MMRRC Submission |
041675-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R4373 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
144120407-144124862 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 144123644 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 94
(T94A)
|
| 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
AA Change: T67A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000140902
Gene: ENSMUSG00000026358
AA Change: T67A
| Domain | Start | End | E-Value | Type |
|---|
|
RGS
|
58 |
128 |
2.8e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189061
AA Change: T94A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000140624
Gene: ENSMUSG00000026358
AA Change: T94A
| Domain | Start | End | E-Value | Type |
|---|
|
RGS
|
85 |
200 |
5.59e-49 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189916
|
| Meta Mutation Damage Score |
0.0641 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
98% (54/55) |
| 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 |
|---|
| Adck5 |
A |
G |
15: 76,478,535 (GRCm39) |
|
probably benign |
Het |
| Akr1b1 |
A |
C |
6: 34,281,202 (GRCm39) |
|
probably benign |
Het |
| Armh4 |
T |
A |
14: 50,007,893 (GRCm39) |
T527S |
probably damaging |
Het |
| Asns |
A |
T |
6: 7,677,978 (GRCm39) |
S367T |
probably damaging |
Het |
| BC034090 |
T |
C |
1: 155,101,904 (GRCm39) |
N120S |
probably benign |
Het |
| Bub1 |
A |
T |
2: 127,647,156 (GRCm39) |
|
probably benign |
Het |
| Csf1 |
T |
A |
3: 107,664,055 (GRCm39) |
T38S |
probably damaging |
Het |
| Ctsz |
T |
C |
2: 174,270,378 (GRCm39) |
E268G |
possibly damaging |
Het |
| Dach1 |
G |
A |
14: 98,065,186 (GRCm39) |
T685I |
possibly damaging |
Het |
| Dclre1a |
A |
G |
19: 56,533,874 (GRCm39) |
L240S |
probably benign |
Het |
| Ercc1 |
G |
A |
7: 19,081,057 (GRCm39) |
|
probably benign |
Het |
| Esam |
C |
T |
9: 37,445,492 (GRCm39) |
T71I |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Gde1 |
A |
G |
7: 118,297,781 (GRCm39) |
L35P |
possibly damaging |
Het |
| Gm10382 |
A |
G |
5: 125,466,647 (GRCm39) |
|
probably benign |
Het |
| H2-M10.6 |
T |
C |
17: 37,123,958 (GRCm39) |
Y141H |
probably damaging |
Het |
| Hk1 |
C |
A |
10: 62,151,319 (GRCm39) |
K10N |
probably damaging |
Het |
| Lamc3 |
A |
G |
2: 31,788,244 (GRCm39) |
K135E |
probably damaging |
Het |
| Lrtm2 |
A |
G |
6: 119,297,489 (GRCm39) |
F184S |
probably damaging |
Het |
| Marchf11 |
A |
G |
15: 26,309,532 (GRCm39) |
E62G |
probably damaging |
Het |
| Mtcl1 |
T |
A |
17: 66,687,074 (GRCm39) |
T611S |
probably benign |
Het |
| Myc |
A |
T |
15: 61,861,513 (GRCm39) |
H373L |
probably damaging |
Het |
| Myh6 |
T |
A |
14: 55,199,565 (GRCm39) |
I249F |
probably damaging |
Het |
| Naaa |
T |
C |
5: 92,426,002 (GRCm39) |
|
probably benign |
Het |
| Nfib |
A |
G |
4: 82,241,895 (GRCm39) |
V432A |
probably damaging |
Het |
| Nmt1 |
A |
G |
11: 102,934,026 (GRCm39) |
K55R |
probably damaging |
Het |
| Opa3 |
C |
T |
7: 18,978,699 (GRCm39) |
R55W |
probably damaging |
Het |
| Or4c122 |
T |
C |
2: 89,079,589 (GRCm39) |
R150G |
possibly damaging |
Het |
| Pfn4 |
T |
A |
12: 4,820,182 (GRCm39) |
D10E |
probably damaging |
Het |
| Pld5 |
T |
A |
1: 175,967,583 (GRCm39) |
I91F |
probably damaging |
Het |
| Plec |
A |
C |
15: 76,067,317 (GRCm39) |
S1350A |
probably damaging |
Het |
| Polq |
G |
T |
16: 36,833,543 (GRCm39) |
V79F |
probably damaging |
Het |
| Ppp1r16b |
T |
C |
2: 158,603,685 (GRCm39) |
Y537H |
probably damaging |
Het |
| Prdm8 |
T |
C |
5: 98,334,367 (GRCm39) |
S645P |
probably damaging |
Het |
| Rpl11 |
G |
A |
4: 135,778,454 (GRCm39) |
|
probably benign |
Het |
| Sanbr |
A |
T |
11: 23,565,265 (GRCm39) |
|
probably null |
Het |
| Scamp3 |
G |
A |
3: 89,089,234 (GRCm39) |
|
probably null |
Het |
| Sgsm1 |
TTTTATATT |
TTT |
5: 113,405,989 (GRCm39) |
|
probably benign |
Het |
| Sirpb1b |
A |
T |
3: 15,613,821 (GRCm39) |
I87K |
probably damaging |
Het |
| Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
| Stat4 |
T |
C |
1: 52,111,100 (GRCm39) |
|
probably null |
Het |
| Tex9 |
A |
T |
9: 72,387,877 (GRCm39) |
|
probably null |
Het |
| Tsku |
T |
C |
7: 98,002,038 (GRCm39) |
T98A |
probably benign |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Vmn2r116 |
A |
C |
17: 23,620,395 (GRCm39) |
I710L |
probably benign |
Het |
| Vmn2r16 |
A |
T |
5: 109,511,667 (GRCm39) |
I625F |
probably damaging |
Het |
| Xpo4 |
G |
A |
14: 57,828,479 (GRCm39) |
Q794* |
probably null |
Het |
| Zfp112 |
T |
A |
7: 23,824,473 (GRCm39) |
I147N |
probably damaging |
Het |
| Zmiz1 |
T |
C |
14: 25,636,434 (GRCm39) |
S140P |
probably damaging |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACATGTAACTGTTTTGGCAG -3'
(R):5'- TAGCCCATATTAGAGCCAATGAAC -3'
Sequencing Primer
(F):5'- TTTGGCAGATTTGTCTAAAGGAC -3'
(R):5'- ATGTCCACATCAGTTTTCTATTTGTG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation