Incidental Mutation 'R5171:Gpsm1'
ID |
398674 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpsm1
|
Ensembl Gene |
ENSMUSG00000026930 |
Gene Name |
G-protein signalling modulator 1 (AGS3-like, C. elegans) |
Synonyms |
Ags3, 1810037C22Rik |
MMRRC Submission |
042751-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5171 (G1)
|
Quality Score |
144 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
26205527-26238249 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to A
at 26217476 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066889]
[ENSMUST00000066936]
[ENSMUST00000078616]
[ENSMUST00000114134]
[ENSMUST00000127453]
|
AlphaFold |
Q6IR34 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000066889
|
SMART Domains |
Protein: ENSMUSP00000067964 Gene: ENSMUSG00000026930
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
|
SMART Domains |
Protein: ENSMUSP00000065000 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
|
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 |
probably benign
Transcript: ENSMUST00000127453
|
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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
100% (52/52) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AA986860 |
C |
A |
1: 130,670,584 (GRCm39) |
Q269K |
probably benign |
Het |
Acad9 |
T |
A |
3: 36,128,547 (GRCm39) |
I136N |
possibly damaging |
Het |
Adtrp |
A |
G |
13: 41,931,039 (GRCm39) |
S183P |
probably damaging |
Het |
Atp11b |
C |
T |
3: 35,887,086 (GRCm39) |
T690I |
probably damaging |
Het |
Bcl2l12 |
G |
A |
7: 44,640,818 (GRCm39) |
|
probably benign |
Het |
Btnl7-ps |
T |
A |
17: 34,752,503 (GRCm39) |
|
noncoding transcript |
Het |
Ccl12 |
T |
C |
11: 81,993,460 (GRCm39) |
C33R |
probably damaging |
Het |
Cdc25a |
T |
A |
9: 109,706,229 (GRCm39) |
S57R |
probably benign |
Het |
Coro2a |
T |
A |
4: 46,542,372 (GRCm39) |
|
probably benign |
Het |
Cpne6 |
T |
C |
14: 55,749,605 (GRCm39) |
V55A |
possibly damaging |
Het |
Ddn |
A |
G |
15: 98,704,207 (GRCm39) |
S362P |
possibly damaging |
Het |
Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Donson |
A |
G |
16: 91,478,181 (GRCm39) |
V258A |
possibly damaging |
Het |
Gm3336 |
G |
A |
8: 71,174,524 (GRCm39) |
V163I |
probably benign |
Het |
Gper1 |
C |
T |
5: 139,412,413 (GRCm39) |
R253C |
probably damaging |
Het |
Hip1 |
A |
G |
5: 135,469,156 (GRCm39) |
S251P |
probably damaging |
Het |
Ifi214 |
A |
G |
1: 173,354,200 (GRCm39) |
S157P |
possibly damaging |
Het |
Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
Kntc1 |
T |
C |
5: 123,937,907 (GRCm39) |
V1535A |
probably benign |
Het |
Mbd3l1 |
A |
G |
9: 18,396,430 (GRCm39) |
N185S |
probably benign |
Het |
Mnx1 |
T |
C |
5: 29,679,851 (GRCm39) |
Q252R |
unknown |
Het |
Mroh3 |
A |
T |
1: 136,119,394 (GRCm39) |
L463Q |
possibly damaging |
Het |
Myom1 |
T |
C |
17: 71,406,967 (GRCm39) |
V1030A |
possibly damaging |
Het |
Or3a1d |
T |
C |
11: 74,237,640 (GRCm39) |
T257A |
probably benign |
Het |
Or5ak20 |
T |
C |
2: 85,184,114 (GRCm39) |
D52G |
probably benign |
Het |
Or5w1 |
T |
G |
2: 87,486,888 (GRCm39) |
I126L |
possibly damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Ranbp17 |
A |
G |
11: 33,167,419 (GRCm39) |
Y1015H |
probably benign |
Het |
Rasal1 |
C |
T |
5: 120,801,829 (GRCm39) |
T256I |
probably benign |
Het |
Rexo5 |
T |
A |
7: 119,423,002 (GRCm39) |
I278N |
probably damaging |
Het |
Rims2 |
T |
A |
15: 39,300,499 (GRCm39) |
S77T |
probably damaging |
Het |
Sdk2 |
C |
T |
11: 113,741,808 (GRCm39) |
A804T |
probably benign |
Het |
Slc24a2 |
T |
A |
4: 86,914,871 (GRCm39) |
I589F |
probably benign |
Het |
Slc25a38 |
T |
A |
9: 119,951,181 (GRCm39) |
I217K |
probably benign |
Het |
Slc5a7 |
T |
C |
17: 54,583,704 (GRCm39) |
T529A |
probably benign |
Het |
Spata22 |
T |
A |
11: 73,227,034 (GRCm39) |
S83T |
probably damaging |
Het |
Spata31e4 |
A |
T |
13: 50,854,414 (GRCm39) |
T91S |
possibly damaging |
Het |
Stac2 |
A |
T |
11: 97,934,324 (GRCm39) |
C127S |
possibly damaging |
Het |
Tep1 |
T |
C |
14: 51,062,259 (GRCm39) |
H2531R |
probably benign |
Het |
Tmem151a |
G |
T |
19: 5,132,061 (GRCm39) |
R382S |
probably damaging |
Het |
Trim60 |
T |
C |
8: 65,453,176 (GRCm39) |
T358A |
probably benign |
Het |
Unc13c |
T |
A |
9: 73,665,236 (GRCm39) |
M1048L |
probably benign |
Het |
Usp29 |
T |
C |
7: 6,965,074 (GRCm39) |
S306P |
probably damaging |
Het |
Zfp26 |
T |
C |
9: 20,356,203 (GRCm39) |
K35R |
probably benign |
Het |
Zfp462 |
T |
A |
4: 55,016,986 (GRCm39) |
|
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGATCACAGTCCCAAGTCTGAC -3'
(R):5'- ATCAAGGACGAGTAGGTGCC -3'
Sequencing Primer
(F):5'- CTTGCTTCAGATTGGAGACCGAAAC -3'
(R):5'- ACGAGTAGGTGCCCAGATC -3'
|
Posted On |
2016-07-06 |