Incidental Mutation 'IGL02730:Gpsm1'
| ID |
305419 |
| 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 # |
IGL02730
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
26205527-26238249 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 26215390 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 316
(V316E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067964
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066889]
[ENSMUST00000066936]
[ENSMUST00000078616]
|
| AlphaFold |
Q6IR34 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066889
AA Change: V316E
PolyPhen 2
Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000067964
Gene: ENSMUSG00000026930
AA Change: V316E
| 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: V284E
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000065000
Gene: ENSMUSG00000026930
AA Change: V284E
| 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
AA Change: V284E
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000077686
Gene: ENSMUSG00000026930
AA Change: V284E
| 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 |
noncoding transcript
Transcript: ENSMUST00000132638
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145884
|
| SMART Domains |
Protein: ENSMUSP00000115680
Gene: ENSMUSG00000026930
| 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: ENSMUST00000153064
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
C |
A |
5: 114,304,210 (GRCm39) |
|
probably benign |
Het |
| Ankib1 |
A |
T |
5: 3,752,995 (GRCm39) |
V651E |
probably damaging |
Het |
| BC051665 |
G |
A |
13: 60,932,826 (GRCm39) |
|
probably benign |
Het |
| Ces1d |
C |
T |
8: 93,912,644 (GRCm39) |
G265S |
probably benign |
Het |
| Dsg1c |
A |
C |
18: 20,407,887 (GRCm39) |
D411A |
probably damaging |
Het |
| Exosc5 |
T |
C |
7: 25,362,622 (GRCm39) |
I70T |
possibly damaging |
Het |
| Fgf20 |
T |
A |
8: 40,732,828 (GRCm39) |
L203F |
probably damaging |
Het |
| Gtpbp1 |
T |
A |
15: 79,603,372 (GRCm39) |
D620E |
probably benign |
Het |
| Hs6st1 |
A |
G |
1: 36,142,709 (GRCm39) |
T215A |
probably damaging |
Het |
| Irgm2 |
T |
A |
11: 58,110,816 (GRCm39) |
M169K |
probably benign |
Het |
| Kcns3 |
A |
G |
12: 11,142,076 (GRCm39) |
S208P |
probably benign |
Het |
| Klra6 |
T |
C |
6: 129,999,660 (GRCm39) |
T103A |
probably benign |
Het |
| Lrba |
T |
A |
3: 86,235,506 (GRCm39) |
M870K |
probably damaging |
Het |
| Mapk1ip1l |
C |
T |
14: 47,548,377 (GRCm39) |
T175I |
possibly damaging |
Het |
| Meig1 |
A |
G |
2: 3,412,947 (GRCm39) |
Y25H |
probably damaging |
Het |
| Msh2 |
T |
C |
17: 88,014,643 (GRCm39) |
F474L |
probably damaging |
Het |
| Nlrp4b |
T |
C |
7: 10,448,685 (GRCm39) |
F296S |
probably damaging |
Het |
| Or10d1b |
C |
T |
9: 39,613,534 (GRCm39) |
C177Y |
probably damaging |
Het |
| Or12d17 |
T |
A |
17: 37,777,750 (GRCm39) |
Y218N |
probably damaging |
Het |
| Or14c40 |
T |
C |
7: 86,313,275 (GRCm39) |
L135P |
probably damaging |
Het |
| Or2m12 |
T |
A |
16: 19,105,432 (GRCm39) |
L20F |
probably benign |
Het |
| Or5al6 |
C |
T |
2: 85,976,443 (GRCm39) |
V212M |
probably benign |
Het |
| Or5w15 |
T |
A |
2: 87,567,985 (GRCm39) |
I228F |
probably damaging |
Het |
| Or6z3 |
T |
C |
7: 6,464,123 (GRCm39) |
I205T |
possibly damaging |
Het |
| Or8s8 |
A |
G |
15: 98,354,317 (GRCm39) |
N42S |
probably damaging |
Het |
| Pds5b |
A |
G |
5: 150,704,217 (GRCm39) |
|
probably benign |
Het |
| Plekhg1 |
A |
G |
10: 3,823,242 (GRCm39) |
D70G |
possibly damaging |
Het |
| Rubcnl |
C |
T |
14: 75,287,588 (GRCm39) |
T624M |
probably damaging |
Het |
| Runx1t1 |
C |
T |
4: 13,860,019 (GRCm39) |
H317Y |
probably benign |
Het |
| Sec22a |
T |
C |
16: 35,134,470 (GRCm39) |
D282G |
probably damaging |
Het |
| Serpina3a |
T |
C |
12: 104,085,922 (GRCm39) |
F126L |
probably damaging |
Het |
| Serpinc1 |
A |
G |
1: 160,827,598 (GRCm39) |
D399G |
probably damaging |
Het |
| Sorcs2 |
A |
G |
5: 36,219,896 (GRCm39) |
Y383H |
probably benign |
Het |
| Speer3 |
T |
A |
5: 13,843,285 (GRCm39) |
M64K |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Stx1b |
C |
A |
7: 127,414,549 (GRCm39) |
R25L |
probably benign |
Het |
| Syt5 |
A |
G |
7: 4,545,356 (GRCm39) |
V181A |
probably damaging |
Het |
| Tspoap1 |
G |
T |
11: 87,672,535 (GRCm39) |
V1788F |
probably damaging |
Het |
| Vinac1 |
T |
C |
2: 128,880,646 (GRCm39) |
T427A |
possibly damaging |
Het |
| Vmn1r233 |
A |
G |
17: 21,214,057 (GRCm39) |
S298P |
possibly damaging |
Het |
| Xntrpc |
T |
C |
7: 101,731,319 (GRCm39) |
S353P |
probably 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 |
|
|
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 |
2015-04-16 |
Incidental Mutation