Incidental Mutation 'IGL01594:Rgs3'
| ID |
91691 |
| 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 # |
IGL01594
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
62478079-62621256 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 62537981 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 4
(F4S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103047
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065870]
[ENSMUST00000084521]
[ENSMUST00000098031]
[ENSMUST00000107424]
|
| AlphaFold |
Q9DC04 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065870
|
| SMART Domains |
Protein: ENSMUSP00000065447
Gene: ENSMUSG00000059810
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
47 |
150 |
7.98e-15 |
SMART |
|
PDZ
|
203 |
272 |
8.09e-10 |
SMART |
|
low complexity region
|
465 |
475 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084521
AA Change: F4S
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000081569
Gene: ENSMUSG00000059810
AA Change: F4S
| 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 |
probably benign
Transcript: ENSMUST00000098031
|
| SMART Domains |
Protein: ENSMUSP00000095639
Gene: ENSMUSG00000059810
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
39 |
142 |
7.98e-15 |
SMART |
|
PDZ
|
195 |
264 |
8.09e-10 |
SMART |
|
low complexity region
|
457 |
467 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107424
AA Change: F4S
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103047
Gene: ENSMUSG00000059810
AA Change: F4S
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
26 |
95 |
8.09e-10 |
SMART |
|
low complexity region
|
288 |
298 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143042
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146083
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154071
|
| 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 |
|---|
| Abcb4 |
A |
T |
5: 8,996,071 (GRCm39) |
|
probably null |
Het |
| Acss1 |
A |
T |
2: 150,463,450 (GRCm39) |
V618E |
probably damaging |
Het |
| Adgrg6 |
T |
C |
10: 14,310,084 (GRCm39) |
N774D |
probably damaging |
Het |
| Atp9a |
A |
G |
2: 168,532,932 (GRCm39) |
V134A |
probably damaging |
Het |
| Csmd3 |
T |
A |
15: 47,492,635 (GRCm39) |
T3169S |
probably benign |
Het |
| D030068K23Rik |
T |
A |
8: 109,978,009 (GRCm39) |
Q52L |
unknown |
Het |
| Dnah5 |
T |
C |
15: 28,311,480 (GRCm39) |
S1820P |
possibly damaging |
Het |
| Fem1c |
A |
C |
18: 46,639,343 (GRCm39) |
S220A |
probably benign |
Het |
| Gm10305 |
G |
A |
4: 99,161,414 (GRCm39) |
D108N |
unknown |
Het |
| Gtdc1 |
A |
G |
2: 44,481,891 (GRCm39) |
|
probably null |
Het |
| Il2ra |
T |
C |
2: 11,685,207 (GRCm39) |
V181A |
possibly damaging |
Het |
| Lrrn1 |
T |
C |
6: 107,544,454 (GRCm39) |
I84T |
probably damaging |
Het |
| Map3k1 |
T |
A |
13: 111,894,723 (GRCm39) |
|
probably null |
Het |
| Mical1 |
T |
G |
10: 41,356,325 (GRCm39) |
Y293D |
probably damaging |
Het |
| Mpzl1 |
T |
C |
1: 165,421,161 (GRCm39) |
D266G |
probably damaging |
Het |
| Or55b4 |
C |
A |
7: 102,134,254 (GRCm39) |
M24I |
probably benign |
Het |
| Pabpc4l |
A |
T |
3: 46,401,581 (GRCm39) |
V21D |
probably damaging |
Het |
| Prdm10 |
T |
C |
9: 31,258,149 (GRCm39) |
C525R |
probably damaging |
Het |
| Ptprj |
C |
A |
2: 90,271,139 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
G |
A |
2: 112,603,073 (GRCm39) |
T2457I |
probably damaging |
Het |
| Scn3a |
A |
G |
2: 65,291,775 (GRCm39) |
I1657T |
probably damaging |
Het |
| Sema6a |
A |
G |
18: 47,381,884 (GRCm39) |
S888P |
probably damaging |
Het |
| Slc37a1 |
T |
A |
17: 31,538,122 (GRCm39) |
Y148* |
probably null |
Het |
| Tex10 |
T |
C |
4: 48,469,906 (GRCm39) |
N53S |
possibly damaging |
Het |
| Tyr |
A |
T |
7: 87,133,022 (GRCm39) |
|
probably benign |
Het |
| Vmn2r100 |
A |
G |
17: 19,751,495 (GRCm39) |
S513G |
possibly damaging |
Het |
|
| Other mutations in Rgs3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00510:Rgs3
|
APN |
4 |
62,619,417 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL00918:Rgs3
|
APN |
4 |
62,619,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-12-09 |
Incidental Mutation