Incidental Mutation 'R6409:Rgs18'
| ID |
514761 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgs18
|
| Ensembl Gene |
ENSMUSG00000026357 |
| Gene Name |
regulator of G-protein signaling 18 |
| Synonyms |
|
| MMRRC Submission |
044554-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R6409 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
144628430-144651165 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 144650931 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 17
(K17*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027603
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027603]
|
| AlphaFold |
Q99PG4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027603
AA Change: K17*
|
| SMART Domains |
Protein: ENSMUSP00000027603
Gene: ENSMUSG00000026357
AA Change: K17*
| Domain | Start | End | E-Value | Type |
|---|
|
RGS
|
86 |
202 |
5.42e-47 |
SMART |
|
| Meta Mutation Damage Score |
0.9717 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
97% (32/33) |
| 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 signaling family. This protein is contains a conserved, 120 amino acid motif called the RGS domain. The protein attenuates the signaling 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. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show reduced thermal nociception threshold, increased startle reflex, thrombocytopenia, defective megakaryopoiesis, and increased platelet aggregation. Homozygotes for a different null allele show decreased bleeding time, increased platelet aggregation, and thrombosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
G |
T |
11: 119,902,558 (GRCm39) |
Q556K |
probably benign |
Het |
| Adgrf3 |
A |
G |
5: 30,402,312 (GRCm39) |
V572A |
probably damaging |
Het |
| Ahnak |
G |
A |
19: 8,986,938 (GRCm39) |
V2741M |
probably benign |
Het |
| Ascc3 |
T |
C |
10: 50,721,676 (GRCm39) |
V2043A |
probably benign |
Het |
| B3glct |
C |
T |
5: 149,658,916 (GRCm39) |
R239C |
probably benign |
Het |
| Cacna2d4 |
T |
A |
6: 119,259,189 (GRCm39) |
V626E |
probably damaging |
Het |
| Cdcp3 |
G |
A |
7: 130,863,800 (GRCm39) |
|
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,803,354 (GRCm39) |
N1563D |
probably benign |
Het |
| Duox2 |
G |
C |
2: 122,115,148 (GRCm39) |
H1110D |
probably damaging |
Het |
| Inppl1 |
A |
T |
7: 101,478,168 (GRCm39) |
F648I |
probably damaging |
Het |
| Mefv |
C |
A |
16: 3,528,657 (GRCm39) |
|
probably null |
Het |
| Ms4a4b |
T |
C |
19: 11,438,724 (GRCm39) |
|
probably null |
Het |
| Mtus2 |
T |
C |
5: 148,014,425 (GRCm39) |
V406A |
probably benign |
Het |
| Nup88 |
T |
C |
11: 70,835,798 (GRCm39) |
R554G |
probably null |
Het |
| Or1x2 |
A |
G |
11: 50,918,015 (GRCm39) |
Y62C |
probably damaging |
Het |
| Or4d10 |
C |
T |
19: 12,052,111 (GRCm39) |
|
probably benign |
Het |
| Or8h8 |
A |
T |
2: 86,753,515 (GRCm39) |
Y120* |
probably null |
Het |
| Pde10a |
A |
G |
17: 9,168,270 (GRCm39) |
D246G |
probably damaging |
Het |
| Pmm1 |
T |
C |
15: 81,845,008 (GRCm39) |
T9A |
probably benign |
Het |
| Pramel19 |
C |
T |
4: 101,797,874 (GRCm39) |
Q91* |
probably null |
Het |
| Psg18 |
T |
C |
7: 18,087,446 (GRCm39) |
M71V |
probably benign |
Het |
| Rapgef4 |
A |
G |
2: 72,008,581 (GRCm39) |
H253R |
probably benign |
Het |
| Rfc4 |
T |
C |
16: 22,932,823 (GRCm39) |
*371W |
probably null |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Sertm1 |
T |
C |
3: 54,806,788 (GRCm39) |
Y79C |
probably benign |
Het |
| Sfrp1 |
T |
C |
8: 23,907,394 (GRCm39) |
I198T |
possibly damaging |
Het |
| Slc15a2 |
T |
A |
16: 36,582,232 (GRCm39) |
I254F |
probably benign |
Het |
| Slc29a4 |
A |
G |
5: 142,697,826 (GRCm39) |
D93G |
probably damaging |
Het |
| Smo |
T |
C |
6: 29,736,113 (GRCm39) |
L35S |
unknown |
Het |
| Tbc1d8 |
A |
G |
1: 39,411,669 (GRCm39) |
S1056P |
probably benign |
Het |
| Ttll9 |
A |
G |
2: 152,841,261 (GRCm39) |
D286G |
probably damaging |
Het |
| Vmn2r14 |
A |
G |
5: 109,364,096 (GRCm39) |
Y607H |
probably benign |
Het |
| Vps8 |
T |
A |
16: 21,297,189 (GRCm39) |
C564S |
probably benign |
Het |
| Zc3h12d |
A |
G |
10: 7,743,082 (GRCm39) |
H284R |
probably benign |
Het |
| Zfp106 |
A |
T |
2: 120,362,585 (GRCm39) |
S79T |
probably damaging |
Het |
|
| Other mutations in Rgs18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02471:Rgs18
|
APN |
1 |
144,650,359 (GRCm39) |
missense |
probably benign |
0.12 |
|
pinocchio
|
UTSW |
1 |
144,629,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0603:Rgs18
|
UTSW |
1 |
144,631,818 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1635:Rgs18
|
UTSW |
1 |
144,629,791 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1923:Rgs18
|
UTSW |
1 |
144,631,818 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2115:Rgs18
|
UTSW |
1 |
144,629,629 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4560:Rgs18
|
UTSW |
1 |
144,631,720 (GRCm39) |
missense |
probably benign |
|
|
R7799:Rgs18
|
UTSW |
1 |
144,629,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8010:Rgs18
|
UTSW |
1 |
144,631,738 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8514:Rgs18
|
UTSW |
1 |
144,629,765 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8867:Rgs18
|
UTSW |
1 |
144,629,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8984:Rgs18
|
UTSW |
1 |
144,629,566 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0065:Rgs18
|
UTSW |
1 |
144,649,265 (GRCm39) |
missense |
probably benign |
0.36 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTAAAGCGCTTCCCCTGTC -3'
(R):5'- GCAGAAACACAGCTCTTCACTTTC -3'
Sequencing Primer
(F):5'- TGTCATTTTCAGCACTCCAATC -3'
(R):5'- AACACAGCTCTTCACTTTCTTTCATG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation