Incidental Mutation 'IGL02740:Gpsm1'
| ID |
305856 |
| 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 # |
IGL02740
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
26205527-26238249 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 26230585 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 512
(V512M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067964
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066889]
[ENSMUST00000066936]
[ENSMUST00000078616]
[ENSMUST00000114134]
[ENSMUST00000127453]
|
| AlphaFold |
Q6IR34 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066889
AA Change: V512M
PolyPhen 2
Score 0.426 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000067964
Gene: ENSMUSG00000026930
AA Change: V512M
| 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 benign
Transcript: ENSMUST00000066936
AA Change: V480M
PolyPhen 2
Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000065000
Gene: ENSMUSG00000026930
AA Change: V480M
| 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 benign
Transcript: ENSMUST00000078616
|
| SMART Domains |
Protein: ENSMUSP00000077686
Gene: ENSMUSG00000026930
| 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 benign
Transcript: ENSMUST00000114134
|
| SMART Domains |
Protein: ENSMUSP00000109769
Gene: ENSMUSG00000026930
| 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 |
probably benign
Transcript: ENSMUST00000127453
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132276
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000145884
AA Change: V303M
|
| SMART Domains |
Protein: ENSMUSP00000115680
Gene: ENSMUSG00000026930
AA Change: V303M
| 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: ENSMUST00000152895
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142057
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153064
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147873
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Als2 |
C |
T |
1: 59,209,078 (GRCm39) |
E1494K |
probably benign |
Het |
| Antxr2 |
A |
G |
5: 98,178,251 (GRCm39) |
|
probably benign |
Het |
| Arhgap23 |
A |
C |
11: 97,365,843 (GRCm39) |
K998Q |
probably damaging |
Het |
| Bap1 |
A |
G |
14: 30,978,729 (GRCm39) |
N47D |
possibly damaging |
Het |
| Carmil1 |
A |
G |
13: 24,278,501 (GRCm39) |
I156T |
probably damaging |
Het |
| Ccdc141 |
T |
C |
2: 76,884,953 (GRCm39) |
T563A |
probably benign |
Het |
| Cct7 |
T |
C |
6: 85,445,252 (GRCm39) |
F501S |
probably benign |
Het |
| Cd59b |
A |
G |
2: 103,909,242 (GRCm39) |
I8V |
probably benign |
Het |
| Cep135 |
T |
C |
5: 76,786,115 (GRCm39) |
|
probably null |
Het |
| Cep170 |
T |
G |
1: 176,621,166 (GRCm39) |
T4P |
probably damaging |
Het |
| Chaf1a |
G |
T |
17: 56,374,500 (GRCm39) |
G896W |
probably damaging |
Het |
| Cpt1b |
A |
T |
15: 89,308,535 (GRCm39) |
L131Q |
probably damaging |
Het |
| Dcaf13 |
C |
T |
15: 39,008,495 (GRCm39) |
R366* |
probably null |
Het |
| Ddr2 |
A |
T |
1: 169,812,514 (GRCm39) |
N659K |
probably damaging |
Het |
| Dmrt2 |
C |
A |
19: 25,655,837 (GRCm39) |
L479I |
possibly damaging |
Het |
| Dnah10 |
A |
G |
5: 124,903,927 (GRCm39) |
|
probably benign |
Het |
| Dsg3 |
C |
T |
18: 20,660,765 (GRCm39) |
T368M |
possibly damaging |
Het |
| Dspp |
C |
A |
5: 104,325,104 (GRCm39) |
S489* |
probably null |
Het |
| Eed |
A |
C |
7: 89,621,464 (GRCm39) |
V112G |
possibly damaging |
Het |
| Ehmt1 |
T |
A |
2: 24,705,851 (GRCm39) |
|
probably benign |
Het |
| Elavl3 |
T |
C |
9: 21,947,675 (GRCm39) |
D89G |
probably benign |
Het |
| Ercc5 |
T |
C |
1: 44,206,652 (GRCm39) |
S522P |
probably benign |
Het |
| Esrrg |
T |
C |
1: 187,930,938 (GRCm39) |
L320P |
probably benign |
Het |
| Gadl1 |
T |
A |
9: 115,835,629 (GRCm39) |
Y352* |
probably null |
Het |
| Gemin5 |
G |
A |
11: 58,042,390 (GRCm39) |
A477V |
probably damaging |
Het |
| Gm3086 |
A |
T |
12: 70,016,095 (GRCm39) |
|
probably benign |
Het |
| Gm8082 |
C |
T |
14: 42,846,570 (GRCm39) |
|
probably benign |
Het |
| Gpr180 |
T |
C |
14: 118,377,161 (GRCm39) |
L54P |
probably damaging |
Het |
| Ighv5-4 |
A |
G |
12: 113,561,100 (GRCm39) |
S107P |
probably damaging |
Het |
| Irak4 |
T |
C |
15: 94,464,925 (GRCm39) |
*460Q |
probably null |
Het |
| Nfkbiz |
G |
T |
16: 55,638,317 (GRCm39) |
T381N |
probably benign |
Het |
| Or1e25 |
A |
T |
11: 73,493,657 (GRCm39) |
N84Y |
probably benign |
Het |
| Or5d39 |
T |
A |
2: 87,979,601 (GRCm39) |
H254L |
probably damaging |
Het |
| Or8b46 |
T |
C |
9: 38,450,226 (GRCm39) |
F12L |
probably damaging |
Het |
| Or8g23 |
T |
C |
9: 38,971,585 (GRCm39) |
I126V |
probably benign |
Het |
| Pou2f1 |
G |
A |
1: 165,710,685 (GRCm39) |
Q523* |
probably null |
Het |
| Ptcra |
A |
G |
17: 47,069,473 (GRCm39) |
S133P |
probably damaging |
Het |
| Ptgfrn |
A |
T |
3: 100,980,253 (GRCm39) |
D362E |
possibly damaging |
Het |
| Rbm33 |
A |
T |
5: 28,536,121 (GRCm39) |
D19V |
probably damaging |
Het |
| Rnf4 |
T |
A |
5: 34,506,898 (GRCm39) |
V74D |
possibly damaging |
Het |
| Rprd1b |
A |
G |
2: 157,889,899 (GRCm39) |
D7G |
probably damaging |
Het |
| Rrp1b |
A |
G |
17: 32,278,305 (GRCm39) |
T659A |
probably damaging |
Het |
| Scaf11 |
T |
C |
15: 96,316,883 (GRCm39) |
N894D |
probably benign |
Het |
| Scn1a |
G |
A |
2: 66,155,106 (GRCm39) |
R618C |
probably damaging |
Het |
| Scn1a |
A |
T |
2: 66,148,421 (GRCm39) |
D1041E |
probably benign |
Het |
| Slc43a1 |
G |
T |
2: 84,690,094 (GRCm39) |
A424S |
probably damaging |
Het |
| Sprtn |
T |
C |
8: 125,625,042 (GRCm39) |
L49P |
probably damaging |
Het |
| Sv2a |
G |
T |
3: 96,092,723 (GRCm39) |
R141L |
possibly damaging |
Het |
| Thsd7b |
C |
T |
1: 129,540,864 (GRCm39) |
S246F |
probably damaging |
Het |
| Tmem117 |
A |
T |
15: 94,612,863 (GRCm39) |
D133V |
probably benign |
Het |
| Tnn |
A |
T |
1: 159,968,347 (GRCm39) |
|
probably benign |
Het |
| Triobp |
G |
A |
15: 78,850,889 (GRCm39) |
V348I |
probably benign |
Het |
| Trps1 |
A |
T |
15: 50,709,935 (GRCm39) |
D134E |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,598,162 (GRCm39) |
I19584V |
probably benign |
Het |
| Uqcrfs1 |
T |
C |
13: 30,725,006 (GRCm39) |
H178R |
probably damaging |
Het |
| Ush2a |
A |
T |
1: 188,380,585 (GRCm39) |
Q2298L |
possibly damaging |
Het |
| Vmn2r67 |
A |
G |
7: 84,785,818 (GRCm39) |
I729T |
probably damaging |
Het |
| Vmn2r79 |
A |
T |
7: 86,653,366 (GRCm39) |
M544L |
probably benign |
Het |
| Vps41 |
T |
A |
13: 19,022,850 (GRCm39) |
L404Q |
probably damaging |
Het |
| Xrcc5 |
T |
G |
1: 72,379,240 (GRCm39) |
|
probably null |
Het |
| Zfp735 |
A |
G |
11: 73,601,412 (GRCm39) |
K119E |
possibly damaging |
Het |
|
| Other mutations in Gpsm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01803:Gpsm1
|
APN |
2 |
26,236,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation