Incidental Mutation 'IGL00510:Rgs3'
| ID |
6657 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rgs3
|
| Ensembl Gene |
ENSMUSG00000059810 |
| Gene Name |
regulator of G-protein signaling 3 |
| Synonyms |
4930506N09Rik, C2PA-RGS3, C2pa, PDZ-RGS3, RGS3S |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
IGL00510
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
62478079-62621256 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 62619417 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 501
(A501T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103043
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084521]
[ENSMUST00000107420]
|
| AlphaFold |
Q9DC04 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084521
AA Change: A899T
PolyPhen 2
Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000081569
Gene: ENSMUSG00000059810
AA Change: A899T
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
26 |
95 |
8.09e-10 |
SMART |
|
low complexity region
|
288 |
298 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
407 |
447 |
2.05e-9 |
PROSPERO |
|
internal_repeat_1
|
456 |
501 |
2.05e-9 |
PROSPERO |
|
low complexity region
|
645 |
674 |
N/A |
INTRINSIC |
|
RGS
|
841 |
957 |
3.66e-53 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107420
AA Change: A501T
PolyPhen 2
Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000103043
Gene: ENSMUSG00000059810
AA Change: A501T
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
9 |
49 |
1.41e-9 |
PROSPERO |
|
internal_repeat_1
|
58 |
103 |
1.41e-9 |
PROSPERO |
|
low complexity region
|
247 |
276 |
N/A |
INTRINSIC |
|
RGS
|
443 |
559 |
3.66e-53 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125369
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142565
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142684
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144489
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150203
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000153875
AA Change: A58T
|
| SMART Domains |
Protein: ENSMUSP00000123310
Gene: ENSMUSG00000059810
AA Change: A58T
| Domain | Start | End | E-Value | Type |
|---|
|
RGS
|
1 |
117 |
8.1e-46 |
SMART |
|
| Coding Region Coverage |
|
| 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 signaling (RGS) family. This protein is a GTPase-activating protein that inhibits G-protein-mediated signal transduction. Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different isoforms. Long isoforms are largely cytosolic and plasma membrane-associated with a function in Wnt signaling and in the epithelial mesenchymal transition, while shorter N-terminally-truncated isoforms can be nuclear. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a targeted allele exhibit impaired T cell migration in model of Th2-mediated airway inflammation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh1 |
A |
G |
3: 137,995,668 (GRCm39) |
N357S |
probably damaging |
Het |
| Akap4 |
A |
G |
X: 6,942,863 (GRCm39) |
T389A |
probably damaging |
Het |
| Aldh3a1 |
A |
G |
11: 61,104,422 (GRCm39) |
E103G |
probably damaging |
Het |
| Aldh3b3 |
C |
A |
19: 4,015,863 (GRCm39) |
Q278K |
probably benign |
Het |
| Ap3m2 |
A |
T |
8: 23,287,243 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
G |
T |
18: 22,656,622 (GRCm39) |
C1544F |
probably damaging |
Het |
| Chd7 |
A |
G |
4: 8,801,404 (GRCm39) |
D716G |
probably damaging |
Het |
| Dennd1b |
G |
T |
1: 139,029,809 (GRCm39) |
R322L |
probably damaging |
Het |
| Dnah7a |
C |
T |
1: 53,540,701 (GRCm39) |
V2558M |
probably damaging |
Het |
| Fbp2 |
T |
C |
13: 62,989,698 (GRCm39) |
I203V |
possibly damaging |
Het |
| Gnai1 |
T |
A |
5: 18,496,617 (GRCm39) |
D102V |
probably benign |
Het |
| Gtf2h1 |
C |
T |
7: 46,468,634 (GRCm39) |
T524I |
possibly damaging |
Het |
| Hinfp |
G |
A |
9: 44,209,063 (GRCm39) |
R352C |
probably damaging |
Het |
| Lpin1 |
G |
A |
12: 16,603,993 (GRCm39) |
H613Y |
probably benign |
Het |
| Med29 |
C |
T |
7: 28,090,266 (GRCm39) |
A110T |
possibly damaging |
Het |
| Myo9a |
T |
C |
9: 59,739,464 (GRCm39) |
|
probably benign |
Het |
| Nlgn1 |
G |
T |
3: 25,490,654 (GRCm39) |
P329T |
probably benign |
Het |
| Osmr |
G |
T |
15: 6,853,112 (GRCm39) |
Y593* |
probably null |
Het |
| Otx2 |
T |
C |
14: 48,896,192 (GRCm39) |
T289A |
probably benign |
Het |
| Pkn2 |
T |
C |
3: 142,504,780 (GRCm39) |
T799A |
probably damaging |
Het |
| Plcb1 |
T |
A |
2: 135,093,676 (GRCm39) |
V163D |
possibly damaging |
Het |
| Rnf103 |
T |
C |
6: 71,486,733 (GRCm39) |
S455P |
probably damaging |
Het |
| Slc9c1 |
A |
G |
16: 45,360,002 (GRCm39) |
T19A |
probably benign |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Spryd7 |
T |
A |
14: 61,783,190 (GRCm39) |
N111Y |
probably damaging |
Het |
| Zfp687 |
A |
G |
3: 94,915,758 (GRCm39) |
S1005P |
probably damaging |
Het |
|
| Other mutations in Rgs3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00918:Rgs3
|
APN |
4 |
62,619,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01594:Rgs3
|
APN |
4 |
62,537,981 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01761:Rgs3
|
APN |
4 |
62,570,946 (GRCm39) |
splice site |
probably benign |
|
|
IGL02995:Rgs3
|
APN |
4 |
62,544,084 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03365:Rgs3
|
APN |
4 |
62,607,912 (GRCm39) |
missense |
probably benign |
|
|
R0098:Rgs3
|
UTSW |
4 |
62,544,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0098:Rgs3
|
UTSW |
4 |
62,544,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0158:Rgs3
|
UTSW |
4 |
62,542,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0609:Rgs3
|
UTSW |
4 |
62,544,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0633:Rgs3
|
UTSW |
4 |
62,544,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0637:Rgs3
|
UTSW |
4 |
62,564,910 (GRCm39) |
splice site |
probably benign |
|
|
R0893:Rgs3
|
UTSW |
4 |
62,523,798 (GRCm39) |
splice site |
probably null |
|
|
R1612:Rgs3
|
UTSW |
4 |
62,544,172 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1929:Rgs3
|
UTSW |
4 |
62,620,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2202:Rgs3
|
UTSW |
4 |
62,608,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2239:Rgs3
|
UTSW |
4 |
62,544,124 (GRCm39) |
missense |
probably benign |
0.30 |
|
R2380:Rgs3
|
UTSW |
4 |
62,544,124 (GRCm39) |
missense |
probably benign |
0.30 |
|
R2974:Rgs3
|
UTSW |
4 |
62,558,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4871:Rgs3
|
UTSW |
4 |
62,549,532 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5229:Rgs3
|
UTSW |
4 |
62,620,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5372:Rgs3
|
UTSW |
4 |
62,570,934 (GRCm39) |
intron |
probably benign |
|
|
R5597:Rgs3
|
UTSW |
4 |
62,542,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6006:Rgs3
|
UTSW |
4 |
62,542,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6056:Rgs3
|
UTSW |
4 |
62,544,143 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6732:Rgs3
|
UTSW |
4 |
62,521,180 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6962:Rgs3
|
UTSW |
4 |
62,618,952 (GRCm39) |
intron |
probably benign |
|
|
R7141:Rgs3
|
UTSW |
4 |
62,608,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7156:Rgs3
|
UTSW |
4 |
62,535,363 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7193:Rgs3
|
UTSW |
4 |
62,533,573 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7459:Rgs3
|
UTSW |
4 |
62,543,391 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7660:Rgs3
|
UTSW |
4 |
62,619,349 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7697:Rgs3
|
UTSW |
4 |
62,575,379 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8025:Rgs3
|
UTSW |
4 |
62,608,831 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8059:Rgs3
|
UTSW |
4 |
62,521,214 (GRCm39) |
splice site |
probably benign |
|
|
R8242:Rgs3
|
UTSW |
4 |
62,538,022 (GRCm39) |
missense |
probably benign |
|
|
R8413:Rgs3
|
UTSW |
4 |
62,544,254 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8489:Rgs3
|
UTSW |
4 |
62,544,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8501:Rgs3
|
UTSW |
4 |
62,521,193 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8880:Rgs3
|
UTSW |
4 |
62,543,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9065:Rgs3
|
UTSW |
4 |
62,620,465 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9094:Rgs3
|
UTSW |
4 |
62,500,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9318:Rgs3
|
UTSW |
4 |
62,559,019 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9483:Rgs3
|
UTSW |
4 |
62,575,354 (GRCm39) |
nonsense |
probably null |
|
|
R9498:Rgs3
|
UTSW |
4 |
62,575,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9522:Rgs3
|
UTSW |
4 |
62,523,729 (GRCm39) |
missense |
probably benign |
0.12 |
|
Z1177:Rgs3
|
UTSW |
4 |
62,549,451 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
| Posted On |
2012-04-20 |
Incidental Mutation