Incidental Mutation 'R4375:Rgs1'
| ID |
325056 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgs1
|
| Ensembl Gene |
ENSMUSG00000026358 |
| Gene Name |
regulator of G-protein signaling 1 |
| Synonyms |
BL34 |
| MMRRC Submission |
041119-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R4375 (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: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (37/37) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adhfe1 |
A |
T |
1: 9,631,853 (GRCm39) |
|
probably benign |
Het |
| Cd209c |
T |
C |
8: 4,004,635 (GRCm39) |
|
noncoding transcript |
Het |
| Cntnap1 |
A |
G |
11: 101,073,079 (GRCm39) |
D561G |
probably damaging |
Het |
| Csf1 |
T |
A |
3: 107,664,055 (GRCm39) |
T38S |
probably damaging |
Het |
| Cyp4b1 |
T |
C |
4: 115,493,510 (GRCm39) |
T191A |
probably benign |
Het |
| Dapk1 |
A |
T |
13: 60,909,403 (GRCm39) |
M1339L |
probably benign |
Het |
| Dpm3 |
T |
C |
3: 89,174,215 (GRCm39) |
Y59H |
probably damaging |
Het |
| Eif2ak4 |
A |
G |
2: 118,258,405 (GRCm39) |
Y585C |
probably damaging |
Het |
| Ercc1 |
G |
A |
7: 19,081,057 (GRCm39) |
|
probably benign |
Het |
| Fam184b |
T |
C |
5: 45,699,685 (GRCm39) |
D577G |
probably benign |
Het |
| Gon4l |
C |
A |
3: 88,814,694 (GRCm39) |
P1888T |
probably benign |
Het |
| Hsf2bp |
C |
T |
17: 32,206,322 (GRCm39) |
D270N |
probably null |
Het |
| Lactbl1 |
T |
C |
4: 136,364,902 (GRCm39) |
V418A |
possibly damaging |
Het |
| Lifr |
A |
T |
15: 7,196,379 (GRCm39) |
M188L |
probably benign |
Het |
| Ltbp1 |
G |
T |
17: 75,619,992 (GRCm39) |
G760V |
probably damaging |
Het |
| Marchf11 |
A |
G |
15: 26,309,532 (GRCm39) |
E62G |
probably damaging |
Het |
| Nlrp12 |
A |
G |
7: 3,289,576 (GRCm39) |
L312P |
possibly damaging |
Het |
| Or1l4 |
T |
A |
2: 37,091,574 (GRCm39) |
M107K |
probably benign |
Het |
| Or52ae7 |
T |
C |
7: 103,119,278 (GRCm39) |
S11P |
probably damaging |
Het |
| Or8c20 |
T |
C |
9: 38,260,465 (GRCm39) |
F23L |
probably benign |
Het |
| Pcdh17 |
T |
C |
14: 84,685,711 (GRCm39) |
V726A |
possibly damaging |
Het |
| Pdia4 |
G |
A |
6: 47,775,326 (GRCm39) |
R495W |
probably damaging |
Het |
| Phf20l1 |
T |
C |
15: 66,487,071 (GRCm39) |
S369P |
probably benign |
Het |
| Polq |
G |
T |
16: 36,833,543 (GRCm39) |
V79F |
probably damaging |
Het |
| Prcc |
A |
G |
3: 87,774,714 (GRCm39) |
Y363H |
probably damaging |
Het |
| Proser3 |
A |
G |
7: 30,240,096 (GRCm39) |
V336A |
possibly damaging |
Het |
| Rbbp8 |
C |
T |
18: 11,858,467 (GRCm39) |
T646M |
probably benign |
Het |
| Rpl11 |
G |
A |
4: 135,778,454 (GRCm39) |
|
probably benign |
Het |
| Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
| Snx9 |
G |
A |
17: 5,958,901 (GRCm39) |
W292* |
probably null |
Het |
| St14 |
T |
C |
9: 31,001,754 (GRCm39) |
I784V |
probably benign |
Het |
| Steep1 |
C |
A |
X: 36,087,812 (GRCm39) |
C206F |
probably benign |
Het |
| Strc |
A |
G |
2: 121,211,304 (GRCm39) |
S14P |
unknown |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Ubap1 |
G |
A |
4: 41,371,850 (GRCm39) |
|
probably null |
Het |
| Zfr |
T |
C |
15: 12,118,426 (GRCm39) |
|
probably null |
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 |
|
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'- CTGTTTTGGCAGATTTGTCTAAAGGAC -3'
(R):5'- TAGCCCATATTAGAGCCAATGAAC -3'
Sequencing Primer
(F):5'- AAGGACAGTGATAAAAATCTAGTGC -3'
(R):5'- ATGTCCACATCAGTTTTCTATTTGTG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation