Incidental Mutation 'IGL01803:Gpsm1'
ID |
155589 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gpsm1
|
Ensembl Gene |
ENSMUSG00000026930 |
Gene Name |
G-protein signalling modulator 1 (AGS3-like, C. elegans) |
Synonyms |
Ags3, 1810037C22Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01803
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
26205527-26238249 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 26236921 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 580
(A580T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000077686
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028295]
[ENSMUST00000066889]
[ENSMUST00000066936]
[ENSMUST00000078616]
[ENSMUST00000114134]
|
AlphaFold |
Q6IR34 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028295
|
SMART Domains |
Protein: ENSMUSP00000028295 Gene: ENSMUSG00000075467
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
67 |
N/A |
INTRINSIC |
Pfam:zf-DNL
|
74 |
139 |
4.1e-34 |
PFAM |
low complexity region
|
158 |
172 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000066889
AA Change: A672T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000067964 Gene: ENSMUSG00000026930 AA Change: A672T
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
43 |
N/A |
INTRINSIC |
TPR
|
98 |
131 |
1.45e-1 |
SMART |
TPR
|
138 |
171 |
7.06e-5 |
SMART |
TPR
|
238 |
271 |
5.96e-3 |
SMART |
TPR
|
278 |
311 |
1.47e-2 |
SMART |
TPR
|
318 |
351 |
5.19e-3 |
SMART |
TPR
|
358 |
391 |
1.33e0 |
SMART |
GoLoco
|
525 |
547 |
7.38e-9 |
SMART |
low complexity region
|
548 |
560 |
N/A |
INTRINSIC |
GoLoco
|
578 |
600 |
4.24e-9 |
SMART |
GoLoco
|
626 |
648 |
5.22e-9 |
SMART |
GoLoco
|
660 |
682 |
3.58e-7 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000066936
AA Change: A640T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000065000 Gene: ENSMUSG00000026930 AA Change: A640T
Domain | Start | End | E-Value | Type |
TPR
|
66 |
99 |
1.45e-1 |
SMART |
TPR
|
106 |
139 |
7.06e-5 |
SMART |
TPR
|
206 |
239 |
5.96e-3 |
SMART |
TPR
|
246 |
279 |
1.47e-2 |
SMART |
TPR
|
286 |
319 |
5.19e-3 |
SMART |
TPR
|
326 |
359 |
1.33e0 |
SMART |
GoLoco
|
493 |
515 |
7.38e-9 |
SMART |
low complexity region
|
516 |
528 |
N/A |
INTRINSIC |
GoLoco
|
546 |
568 |
4.24e-9 |
SMART |
GoLoco
|
594 |
616 |
5.22e-9 |
SMART |
GoLoco
|
628 |
650 |
3.58e-7 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000078616
AA Change: A580T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000077686 Gene: ENSMUSG00000026930 AA Change: A580T
Domain | Start | End | E-Value | Type |
TPR
|
66 |
99 |
1.45e-1 |
SMART |
TPR
|
106 |
139 |
7.06e-5 |
SMART |
TPR
|
206 |
239 |
5.96e-3 |
SMART |
TPR
|
246 |
279 |
1.47e-2 |
SMART |
TPR
|
286 |
319 |
5.19e-3 |
SMART |
TPR
|
326 |
359 |
1.33e0 |
SMART |
GoLoco
|
433 |
455 |
7.38e-9 |
SMART |
low complexity region
|
456 |
468 |
N/A |
INTRINSIC |
GoLoco
|
486 |
508 |
4.24e-9 |
SMART |
GoLoco
|
534 |
556 |
5.22e-9 |
SMART |
GoLoco
|
568 |
590 |
3.58e-7 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114134
AA Change: A203T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000109769 Gene: ENSMUSG00000026930 AA Change: A203T
Domain | Start | End | E-Value | Type |
GoLoco
|
56 |
78 |
7.38e-9 |
SMART |
low complexity region
|
79 |
91 |
N/A |
INTRINSIC |
GoLoco
|
109 |
131 |
4.24e-9 |
SMART |
GoLoco
|
157 |
179 |
5.22e-9 |
SMART |
GoLoco
|
191 |
213 |
3.58e-7 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123981
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142057
|
Predicted Effect |
unknown
Transcript: ENSMUST00000145884
AA Change: A463T
|
SMART Domains |
Protein: ENSMUSP00000115680 Gene: ENSMUSG00000026930 AA Change: A463T
Domain | Start | End | E-Value | Type |
Blast:TPR
|
22 |
68 |
1e-9 |
BLAST |
Pfam:TPR_1
|
82 |
107 |
2.3e-4 |
PFAM |
Pfam:TPR_12
|
82 |
147 |
7.9e-12 |
PFAM |
Pfam:TPR_7
|
84 |
119 |
1.4e-5 |
PFAM |
Pfam:TPR_2
|
122 |
147 |
6.2e-4 |
PFAM |
Pfam:TPR_8
|
123 |
146 |
1.4e-2 |
PFAM |
Blast:TPR
|
150 |
183 |
4e-15 |
BLAST |
GoLoco
|
317 |
339 |
7.38e-9 |
SMART |
low complexity region
|
340 |
352 |
N/A |
INTRINSIC |
GoLoco
|
370 |
392 |
4.24e-9 |
SMART |
GoLoco
|
418 |
440 |
5.22e-9 |
SMART |
GoLoco
|
452 |
474 |
3.58e-7 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132276
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147873
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125848
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] G-protein signaling modulators (GPSMs) play diverse functional roles through their interaction with G-protein subunits. This gene encodes a receptor-independent activator of G protein signaling, which is one of several factors that influence the basal activity of G-protein signaling systems. The protein contains seven tetratricopeptide repeats in its N-terminal half and four G-protein regulatory (GPR) motifs in its C-terminal half. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] PHENOTYPE: Mice homozygous for a knock-out allele exhibit a lean phenotype, reduced fat mass, increased food consumption, increased nocturnal energy expenditure and altered blood pressure control mechanisms; surprisingly, their basal behavior and gross brain morphology remain normal. [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 |
Adamts19 |
T |
A |
18: 59,085,541 (GRCm39) |
L532Q |
probably damaging |
Het |
Bod1l |
A |
T |
5: 41,974,732 (GRCm39) |
V2194D |
probably damaging |
Het |
Cenpf |
G |
A |
1: 189,386,968 (GRCm39) |
Q1771* |
probably null |
Het |
Cfap100 |
C |
A |
6: 90,392,717 (GRCm39) |
R131L |
probably benign |
Het |
Coch |
A |
T |
12: 51,650,082 (GRCm39) |
Q357L |
probably benign |
Het |
Col14a1 |
A |
G |
15: 55,282,210 (GRCm39) |
T824A |
unknown |
Het |
Dnah9 |
T |
C |
11: 66,009,655 (GRCm39) |
Y744C |
probably damaging |
Het |
Dusp13b |
A |
G |
14: 21,783,907 (GRCm39) |
V201A |
probably damaging |
Het |
Egf |
T |
A |
3: 129,530,415 (GRCm39) |
H249L |
probably benign |
Het |
Elmod1 |
G |
A |
9: 53,838,764 (GRCm39) |
P132L |
probably benign |
Het |
Eps8l2 |
T |
C |
7: 140,938,143 (GRCm39) |
V459A |
probably benign |
Het |
Fbn1 |
T |
C |
2: 125,192,207 (GRCm39) |
D1434G |
probably damaging |
Het |
Fbn1 |
G |
A |
2: 125,143,645 (GRCm39) |
T2828I |
probably benign |
Het |
Gbp9 |
C |
T |
5: 105,242,039 (GRCm39) |
D173N |
probably damaging |
Het |
Gbp9 |
T |
C |
5: 105,232,884 (GRCm39) |
D256G |
probably damaging |
Het |
Hnrnpf |
T |
C |
6: 117,884,094 (GRCm39) |
|
probably benign |
Het |
Krt33a |
T |
C |
11: 99,902,843 (GRCm39) |
E327G |
probably benign |
Het |
M1ap |
T |
A |
6: 82,982,565 (GRCm39) |
I283K |
probably benign |
Het |
Mars2 |
A |
G |
1: 55,277,155 (GRCm39) |
S253G |
probably damaging |
Het |
Myh6 |
A |
T |
14: 55,182,000 (GRCm39) |
M1767K |
probably damaging |
Het |
Myo3a |
T |
A |
2: 22,245,926 (GRCm39) |
D16E |
probably damaging |
Het |
Pitrm1 |
T |
A |
13: 6,629,471 (GRCm39) |
Y978N |
probably benign |
Het |
Plekha6 |
G |
T |
1: 133,200,152 (GRCm39) |
E66* |
probably null |
Het |
Polk |
C |
T |
13: 96,641,030 (GRCm39) |
V176M |
probably damaging |
Het |
Pom121 |
G |
T |
5: 135,410,463 (GRCm39) |
|
probably benign |
Het |
Rnf213 |
T |
A |
11: 119,332,133 (GRCm39) |
D2447E |
probably damaging |
Het |
Sall3 |
T |
C |
18: 81,013,047 (GRCm39) |
M1130V |
possibly damaging |
Het |
Scn3a |
A |
G |
2: 65,352,127 (GRCm39) |
|
probably benign |
Het |
Sel1l |
A |
T |
12: 91,797,504 (GRCm39) |
M241K |
probably benign |
Het |
Septin4 |
G |
A |
11: 87,459,075 (GRCm39) |
S483N |
probably benign |
Het |
Ssh2 |
T |
G |
11: 77,316,156 (GRCm39) |
L259R |
probably damaging |
Het |
Tnr |
G |
T |
1: 159,695,813 (GRCm39) |
G579W |
probably damaging |
Het |
Vmn1r85 |
G |
T |
7: 12,818,496 (GRCm39) |
A216D |
probably damaging |
Het |
Vmn2r83 |
C |
A |
10: 79,304,894 (GRCm39) |
H35N |
probably benign |
Het |
Zar1l |
T |
A |
5: 150,441,569 (GRCm39) |
Y19F |
probably benign |
Het |
|
Other mutations in Gpsm1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01826:Gpsm1
|
APN |
2 |
26,216,314 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02281:Gpsm1
|
APN |
2 |
26,229,638 (GRCm39) |
splice site |
probably benign |
|
IGL02730:Gpsm1
|
APN |
2 |
26,215,390 (GRCm39) |
missense |
probably benign |
0.13 |
IGL02740:Gpsm1
|
APN |
2 |
26,230,585 (GRCm39) |
missense |
probably benign |
0.43 |
IGL02749:Gpsm1
|
APN |
2 |
26,229,687 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02982:Gpsm1
|
APN |
2 |
26,214,871 (GRCm39) |
missense |
probably damaging |
1.00 |
R1271:Gpsm1
|
UTSW |
2 |
26,234,684 (GRCm39) |
missense |
probably damaging |
0.99 |
R1639:Gpsm1
|
UTSW |
2 |
26,235,199 (GRCm39) |
missense |
probably damaging |
1.00 |
R1766:Gpsm1
|
UTSW |
2 |
26,215,395 (GRCm39) |
missense |
probably damaging |
1.00 |
R1854:Gpsm1
|
UTSW |
2 |
26,234,725 (GRCm39) |
missense |
probably damaging |
1.00 |
R2900:Gpsm1
|
UTSW |
2 |
26,235,174 (GRCm39) |
missense |
probably benign |
0.00 |
R2994:Gpsm1
|
UTSW |
2 |
26,209,843 (GRCm39) |
unclassified |
probably benign |
|
R2995:Gpsm1
|
UTSW |
2 |
26,209,843 (GRCm39) |
unclassified |
probably benign |
|
R2996:Gpsm1
|
UTSW |
2 |
26,209,843 (GRCm39) |
unclassified |
probably benign |
|
R4227:Gpsm1
|
UTSW |
2 |
26,229,638 (GRCm39) |
splice site |
probably benign |
|
R4391:Gpsm1
|
UTSW |
2 |
26,214,009 (GRCm39) |
missense |
probably damaging |
1.00 |
R4413:Gpsm1
|
UTSW |
2 |
26,209,843 (GRCm39) |
unclassified |
probably benign |
|
R4461:Gpsm1
|
UTSW |
2 |
26,209,843 (GRCm39) |
unclassified |
probably benign |
|
R4469:Gpsm1
|
UTSW |
2 |
26,209,843 (GRCm39) |
unclassified |
probably benign |
|
R4659:Gpsm1
|
UTSW |
2 |
26,209,843 (GRCm39) |
unclassified |
probably benign |
|
R4786:Gpsm1
|
UTSW |
2 |
26,212,493 (GRCm39) |
missense |
probably benign |
0.01 |
R5025:Gpsm1
|
UTSW |
2 |
26,210,008 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5057:Gpsm1
|
UTSW |
2 |
26,215,369 (GRCm39) |
missense |
probably damaging |
0.96 |
R5171:Gpsm1
|
UTSW |
2 |
26,217,476 (GRCm39) |
intron |
probably benign |
|
R5356:Gpsm1
|
UTSW |
2 |
26,230,574 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5417:Gpsm1
|
UTSW |
2 |
26,214,045 (GRCm39) |
critical splice donor site |
probably null |
|
R5967:Gpsm1
|
UTSW |
2 |
26,230,546 (GRCm39) |
splice site |
probably null |
|
R6153:Gpsm1
|
UTSW |
2 |
26,215,425 (GRCm39) |
missense |
probably benign |
0.14 |
R6969:Gpsm1
|
UTSW |
2 |
26,230,555 (GRCm39) |
missense |
probably benign |
0.01 |
R7006:Gpsm1
|
UTSW |
2 |
26,212,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R7819:Gpsm1
|
UTSW |
2 |
26,229,705 (GRCm39) |
missense |
probably damaging |
0.98 |
R7867:Gpsm1
|
UTSW |
2 |
26,230,448 (GRCm39) |
missense |
probably benign |
0.38 |
R8194:Gpsm1
|
UTSW |
2 |
26,217,364 (GRCm39) |
frame shift |
probably null |
|
R8195:Gpsm1
|
UTSW |
2 |
26,214,929 (GRCm39) |
splice site |
probably null |
|
R8857:Gpsm1
|
UTSW |
2 |
26,230,457 (GRCm39) |
missense |
possibly damaging |
0.47 |
R9267:Gpsm1
|
UTSW |
2 |
26,236,835 (GRCm39) |
missense |
probably damaging |
1.00 |
R9281:Gpsm1
|
UTSW |
2 |
26,214,488 (GRCm39) |
missense |
probably damaging |
0.99 |
RF017:Gpsm1
|
UTSW |
2 |
26,214,884 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Gpsm1
|
UTSW |
2 |
26,217,357 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
Posted On |
2014-02-04 |