Incidental Mutation 'IGL00790:Rgs17'
ID |
13814 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rgs17
|
Ensembl Gene |
ENSMUSG00000019775 |
Gene Name |
regulator of G-protein signaling 17 |
Synonyms |
6430507P11Rik, RGSZ2 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.263)
|
Stock # |
IGL00790
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
5775663-5872400 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 5862624 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Proline
at position 25
(Q25P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000065825
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019909]
[ENSMUST00000064225]
[ENSMUST00000117676]
[ENSMUST00000131996]
|
AlphaFold |
Q9QZB0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000019909
AA Change: Q5P
PolyPhen 2
Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000019909 Gene: ENSMUSG00000019775 AA Change: Q5P
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
40 |
N/A |
INTRINSIC |
RGS
|
84 |
163 |
7.96e-13 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064225
AA Change: Q25P
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000065825 Gene: ENSMUSG00000019775 AA Change: Q25P
Domain | Start | End | E-Value | Type |
low complexity region
|
48 |
60 |
N/A |
INTRINSIC |
RGS
|
104 |
220 |
4.54e-49 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117676
AA Change: Q5P
PolyPhen 2
Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000113519 Gene: ENSMUSG00000019775 AA Change: Q5P
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
40 |
N/A |
INTRINSIC |
RGS
|
84 |
200 |
4.54e-49 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000131996
AA Change: Q5P
PolyPhen 2
Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000116291 Gene: ENSMUSG00000019775 AA Change: Q5P
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
40 |
N/A |
INTRINSIC |
RGS
|
84 |
200 |
4.54e-49 |
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 family. This protein contains a conserved, 120 amino acid motif called the RGS domain and a cysteine-rich region. 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. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd12 |
A |
T |
17: 66,291,175 (GRCm39) |
N1419K |
probably benign |
Het |
Arhgef18 |
A |
G |
8: 3,479,553 (GRCm39) |
E79G |
probably damaging |
Het |
Art4 |
T |
A |
6: 136,831,493 (GRCm39) |
Q216L |
probably damaging |
Het |
Bbs4 |
T |
C |
9: 59,231,348 (GRCm39) |
D407G |
probably benign |
Het |
Cherp |
A |
G |
8: 73,222,090 (GRCm39) |
I277T |
probably damaging |
Het |
Cnot2 |
A |
G |
10: 116,342,976 (GRCm39) |
M119T |
probably benign |
Het |
Disp2 |
T |
A |
2: 118,616,759 (GRCm39) |
C73S |
probably damaging |
Het |
Dock4 |
T |
C |
12: 40,884,390 (GRCm39) |
S1686P |
probably damaging |
Het |
Dsc1 |
C |
T |
18: 20,227,953 (GRCm39) |
G468S |
probably damaging |
Het |
Duox2 |
T |
A |
2: 122,122,781 (GRCm39) |
D551V |
possibly damaging |
Het |
Gmip |
T |
A |
8: 70,269,661 (GRCm39) |
Y585* |
probably null |
Het |
Gnal |
A |
G |
18: 67,267,360 (GRCm39) |
|
probably null |
Het |
Idh1 |
T |
G |
1: 65,205,281 (GRCm39) |
Q228P |
possibly damaging |
Het |
Igsf10 |
A |
T |
3: 59,226,938 (GRCm39) |
I2245N |
probably damaging |
Het |
Mrgpra4 |
A |
T |
7: 47,631,052 (GRCm39) |
M183K |
possibly damaging |
Het |
Npr2 |
T |
A |
4: 43,641,612 (GRCm39) |
V472D |
possibly damaging |
Het |
Pcdh7 |
A |
T |
5: 57,878,806 (GRCm39) |
N787I |
probably damaging |
Het |
Phf8-ps |
A |
G |
17: 33,286,361 (GRCm39) |
V147A |
probably damaging |
Het |
Ppp1r10 |
A |
T |
17: 36,235,751 (GRCm39) |
N111I |
probably damaging |
Het |
Ppp3ca |
A |
G |
3: 136,640,942 (GRCm39) |
N508D |
probably benign |
Het |
Slco6d1 |
T |
A |
1: 98,348,925 (GRCm39) |
|
probably benign |
Het |
Tab3 |
T |
A |
X: 84,665,210 (GRCm39) |
N591K |
probably damaging |
Het |
Tfcp2 |
T |
C |
15: 100,411,059 (GRCm39) |
|
probably benign |
Het |
Them5 |
A |
T |
3: 94,250,716 (GRCm39) |
D93V |
probably damaging |
Het |
Thoc5 |
T |
G |
11: 4,868,147 (GRCm39) |
V275G |
probably damaging |
Het |
Trmt1l |
T |
C |
1: 151,318,463 (GRCm39) |
|
probably null |
Het |
Zdbf2 |
G |
T |
1: 63,345,673 (GRCm39) |
V1351F |
possibly damaging |
Het |
Zfp14 |
G |
T |
7: 29,738,312 (GRCm39) |
Y224* |
probably null |
Het |
Zfp606 |
T |
G |
7: 12,228,159 (GRCm39) |
M702R |
probably damaging |
Het |
|
Other mutations in Rgs17 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0099:Rgs17
|
UTSW |
10 |
5,792,583 (GRCm39) |
missense |
probably benign |
0.18 |
R1564:Rgs17
|
UTSW |
10 |
5,792,567 (GRCm39) |
nonsense |
probably null |
|
R2424:Rgs17
|
UTSW |
10 |
5,792,560 (GRCm39) |
missense |
probably benign |
0.33 |
R2424:Rgs17
|
UTSW |
10 |
5,783,111 (GRCm39) |
missense |
probably damaging |
1.00 |
R4519:Rgs17
|
UTSW |
10 |
5,868,192 (GRCm39) |
missense |
probably benign |
0.00 |
R4585:Rgs17
|
UTSW |
10 |
5,792,596 (GRCm39) |
missense |
probably benign |
0.00 |
R5738:Rgs17
|
UTSW |
10 |
5,783,140 (GRCm39) |
missense |
probably damaging |
1.00 |
R6744:Rgs17
|
UTSW |
10 |
5,792,567 (GRCm39) |
missense |
possibly damaging |
0.55 |
R7625:Rgs17
|
UTSW |
10 |
5,791,488 (GRCm39) |
missense |
probably benign |
|
R7816:Rgs17
|
UTSW |
10 |
5,791,501 (GRCm39) |
missense |
probably benign |
|
R7937:Rgs17
|
UTSW |
10 |
5,783,078 (GRCm39) |
missense |
probably benign |
0.02 |
R8302:Rgs17
|
UTSW |
10 |
5,812,525 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8699:Rgs17
|
UTSW |
10 |
5,868,194 (GRCm39) |
missense |
probably benign |
0.26 |
R9509:Rgs17
|
UTSW |
10 |
5,812,576 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2012-12-06 |