Incidental Mutation 'IGL02749:Gpsm1'
ID |
306178 |
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 # |
IGL02749
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
26205527-26238249 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 26229687 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 36
(T36I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120934
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066889]
[ENSMUST00000066936]
[ENSMUST00000078616]
[ENSMUST00000114134]
[ENSMUST00000127453]
|
AlphaFold |
Q6IR34 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000066889
AA Change: T445I
PolyPhen 2
Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000067964 Gene: ENSMUSG00000026930 AA Change: T445I
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: T413I
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000065000 Gene: ENSMUSG00000026930 AA Change: T413I
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: T413I
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000077686 Gene: ENSMUSG00000026930 AA Change: T413I
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
AA Change: T36I
PolyPhen 2
Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000109769 Gene: ENSMUSG00000026930 AA Change: T36I
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 damaging
Transcript: ENSMUST00000127453
AA Change: T36I
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132276
|
Predicted Effect |
unknown
Transcript: ENSMUST00000145884
AA Change: T236I
|
SMART Domains |
Protein: ENSMUSP00000115680 Gene: ENSMUSG00000026930 AA Change: T236I
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: ENSMUST00000153064
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147873
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142057
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152895
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9230104M06Rik |
T |
C |
12: 112,963,795 (GRCm39) |
D61G |
probably benign |
Het |
Albfm1 |
T |
C |
5: 90,719,624 (GRCm39) |
V240A |
possibly damaging |
Het |
Ascc2 |
G |
A |
11: 4,590,481 (GRCm39) |
|
probably null |
Het |
Atrn |
C |
T |
2: 130,812,064 (GRCm39) |
Q670* |
probably null |
Het |
Atrn |
G |
T |
2: 130,789,654 (GRCm39) |
|
probably benign |
Het |
Calr |
A |
C |
8: 85,571,117 (GRCm39) |
W236G |
probably damaging |
Het |
Camk2g |
T |
A |
14: 20,816,084 (GRCm39) |
|
probably null |
Het |
Cd101 |
G |
T |
3: 100,927,715 (GRCm39) |
T122K |
probably damaging |
Het |
Cert1 |
T |
A |
13: 96,765,643 (GRCm39) |
N469K |
possibly damaging |
Het |
Cryl1 |
T |
C |
14: 57,541,181 (GRCm39) |
T168A |
probably benign |
Het |
Diaph3 |
A |
G |
14: 87,156,261 (GRCm39) |
I684T |
probably damaging |
Het |
Ednrb |
A |
T |
14: 104,060,495 (GRCm39) |
M266K |
possibly damaging |
Het |
Eif4h |
T |
C |
5: 134,668,146 (GRCm39) |
D3G |
probably damaging |
Het |
Eny2 |
C |
T |
15: 44,293,031 (GRCm39) |
R28C |
possibly damaging |
Het |
Epsti1 |
A |
G |
14: 78,177,363 (GRCm39) |
E181G |
probably damaging |
Het |
Ezh2 |
A |
G |
6: 47,510,698 (GRCm39) |
F598S |
probably damaging |
Het |
Fat3 |
G |
T |
9: 15,918,007 (GRCm39) |
T1472K |
possibly damaging |
Het |
Gabra4 |
T |
A |
5: 71,795,490 (GRCm39) |
I262F |
probably benign |
Het |
Gpat4 |
A |
T |
8: 23,670,886 (GRCm39) |
Y109N |
probably damaging |
Het |
Hikeshi |
C |
T |
7: 89,585,097 (GRCm39) |
V36I |
possibly damaging |
Het |
Hip1 |
T |
C |
5: 135,473,605 (GRCm39) |
M238V |
probably benign |
Het |
Hnrnpll |
A |
T |
17: 80,369,420 (GRCm39) |
M1K |
probably null |
Het |
Irx2 |
G |
A |
13: 72,779,429 (GRCm39) |
D238N |
probably damaging |
Het |
Kcnip4 |
T |
A |
5: 48,567,127 (GRCm39) |
|
probably benign |
Het |
Lair1 |
G |
A |
7: 4,031,900 (GRCm39) |
T69I |
possibly damaging |
Het |
Lamc1 |
A |
G |
1: 153,125,599 (GRCm39) |
I558T |
possibly damaging |
Het |
Map4k5 |
C |
T |
12: 69,862,580 (GRCm39) |
E639K |
probably benign |
Het |
Mc4r |
A |
G |
18: 66,992,733 (GRCm39) |
S127P |
probably damaging |
Het |
Mmp23 |
A |
G |
4: 155,735,989 (GRCm39) |
M221T |
possibly damaging |
Het |
Mre11a |
T |
C |
9: 14,737,887 (GRCm39) |
S587P |
possibly damaging |
Het |
Myh9 |
A |
T |
15: 77,692,186 (GRCm39) |
Y124* |
probably null |
Het |
Nek9 |
C |
A |
12: 85,352,281 (GRCm39) |
A861S |
probably benign |
Het |
Nup155 |
T |
A |
15: 8,163,560 (GRCm39) |
Y576N |
probably damaging |
Het |
Or5w10 |
C |
T |
2: 87,375,001 (GRCm39) |
V296M |
probably damaging |
Het |
Pcca |
A |
T |
14: 122,771,800 (GRCm39) |
T8S |
probably benign |
Het |
Pcdh15 |
A |
G |
10: 74,466,900 (GRCm39) |
D1573G |
probably benign |
Het |
Pdpr |
T |
A |
8: 111,844,722 (GRCm39) |
V373E |
probably benign |
Het |
Pdzph1 |
A |
T |
17: 59,239,478 (GRCm39) |
L950Q |
possibly damaging |
Het |
Pira13 |
A |
G |
7: 3,825,624 (GRCm39) |
I415T |
probably damaging |
Het |
Prss35 |
A |
C |
9: 86,638,297 (GRCm39) |
K356Q |
probably damaging |
Het |
Psg22 |
A |
T |
7: 18,456,944 (GRCm39) |
T237S |
possibly damaging |
Het |
Rdh13 |
A |
G |
7: 4,430,703 (GRCm39) |
Y252H |
probably damaging |
Het |
Sema3d |
T |
C |
5: 12,613,112 (GRCm39) |
|
probably benign |
Het |
Slc35b2 |
G |
A |
17: 45,877,493 (GRCm39) |
V207I |
probably benign |
Het |
Sparcl1 |
T |
G |
5: 104,240,746 (GRCm39) |
E226A |
possibly damaging |
Het |
Srms |
C |
A |
2: 180,851,302 (GRCm39) |
A155S |
possibly damaging |
Het |
Tas2r107 |
A |
T |
6: 131,636,917 (GRCm39) |
I44N |
probably damaging |
Het |
Tmem236 |
C |
T |
2: 14,224,132 (GRCm39) |
T307M |
probably damaging |
Het |
Ush2a |
C |
T |
1: 188,679,155 (GRCm39) |
P4788S |
probably damaging |
Het |
Vmn1r170 |
A |
T |
7: 23,305,716 (GRCm39) |
L39F |
probably benign |
Het |
Vmn2r90 |
T |
A |
17: 17,947,122 (GRCm39) |
*121R |
probably null |
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 |
IGL02740:Gpsm1
|
APN |
2 |
26,230,585 (GRCm39) |
missense |
probably benign |
0.43 |
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 |