Incidental Mutation 'R4469:Gpsm1'
| ID |
329303 |
| 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 |
041726-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4469 (G1)
|
| Quality Score |
192 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
26205527-26238249 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 26209843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066889]
[ENSMUST00000066936]
[ENSMUST00000078616]
|
| 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: 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 94.4%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
A |
G |
13: 119,606,345 (GRCm39) |
K196E |
probably damaging |
Het |
| Ackr1 |
T |
C |
1: 173,160,112 (GRCm39) |
|
probably null |
Het |
| Adgra1 |
C |
T |
7: 139,455,977 (GRCm39) |
T535I |
probably damaging |
Het |
| Ankrd11 |
A |
G |
8: 123,623,326 (GRCm39) |
Y310H |
probably damaging |
Het |
| Arhgef5 |
T |
C |
6: 43,252,033 (GRCm39) |
I928T |
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Asb4 |
C |
A |
6: 5,423,409 (GRCm39) |
F185L |
probably benign |
Het |
| Ces2g |
A |
T |
8: 105,692,602 (GRCm39) |
I301F |
probably benign |
Het |
| Chd1 |
T |
C |
17: 15,980,657 (GRCm39) |
I1308T |
probably damaging |
Het |
| Cntnap4 |
A |
T |
8: 113,391,898 (GRCm39) |
N121I |
probably damaging |
Het |
| Csf1 |
C |
T |
3: 107,657,997 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
T |
A |
1: 53,483,685 (GRCm39) |
H3364L |
probably benign |
Het |
| Dnmt3c |
A |
G |
2: 153,562,280 (GRCm39) |
T555A |
possibly damaging |
Het |
| Dst |
A |
G |
1: 34,230,923 (GRCm39) |
T3017A |
probably benign |
Het |
| Efcab7 |
A |
G |
4: 99,766,901 (GRCm39) |
D482G |
possibly damaging |
Het |
| Fbxl5 |
A |
G |
5: 43,925,528 (GRCm39) |
V154A |
probably damaging |
Het |
| Flt3 |
T |
C |
5: 147,312,454 (GRCm39) |
|
silent |
Het |
| G6pd2 |
A |
T |
5: 61,966,288 (GRCm39) |
Y21F |
probably benign |
Het |
| Gm9376 |
C |
T |
14: 118,505,011 (GRCm39) |
P148S |
probably damaging |
Het |
| Gtpbp2 |
A |
G |
17: 46,472,239 (GRCm39) |
Y58C |
probably damaging |
Het |
| Hcrtr2 |
T |
A |
9: 76,137,838 (GRCm39) |
T426S |
probably benign |
Het |
| Herc3 |
T |
A |
6: 58,853,794 (GRCm39) |
Y613* |
probably null |
Het |
| Hsd17b1 |
A |
T |
11: 100,970,838 (GRCm39) |
M265L |
probably benign |
Het |
| Ier3ip1 |
A |
G |
18: 77,028,294 (GRCm39) |
|
probably benign |
Het |
| Kif11 |
A |
G |
19: 37,404,940 (GRCm39) |
M924V |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lancl2 |
T |
A |
6: 57,690,019 (GRCm39) |
L75H |
probably damaging |
Het |
| Mfsd4b1 |
T |
C |
10: 39,888,091 (GRCm39) |
|
probably benign |
Het |
| Nlrc5 |
A |
T |
8: 95,247,467 (GRCm39) |
I1588F |
probably damaging |
Het |
| Nostrin |
C |
G |
2: 69,006,061 (GRCm39) |
I248M |
probably damaging |
Het |
| Or12d14-ps1 |
A |
G |
17: 37,673,528 (GRCm39) |
I170M |
possibly damaging |
Het |
| Or14j1 |
T |
C |
17: 38,146,607 (GRCm39) |
L239P |
probably benign |
Het |
| Qng1 |
A |
G |
13: 58,530,239 (GRCm39) |
L257P |
probably damaging |
Het |
| Rabggta |
A |
G |
14: 55,953,944 (GRCm39) |
V266A |
probably benign |
Het |
| Ror2 |
G |
A |
13: 53,286,016 (GRCm39) |
T66M |
possibly damaging |
Het |
| Rps6-ps2 |
A |
G |
8: 89,533,319 (GRCm39) |
|
noncoding transcript |
Het |
| Skp1 |
C |
T |
11: 52,135,905 (GRCm39) |
T138I |
probably benign |
Het |
| Smad9 |
T |
C |
3: 54,690,182 (GRCm39) |
V134A |
probably damaging |
Het |
| Snx29 |
T |
A |
16: 11,238,565 (GRCm39) |
|
probably null |
Het |
| Sos1 |
A |
G |
17: 80,761,240 (GRCm39) |
I152T |
probably damaging |
Het |
| Ssbp2 |
G |
A |
13: 91,842,175 (GRCm39) |
G302D |
probably damaging |
Het |
| Stom |
T |
C |
2: 35,211,545 (GRCm39) |
N159D |
possibly damaging |
Het |
| Trav16d-dv11 |
A |
G |
14: 53,285,035 (GRCm39) |
K37R |
probably benign |
Het |
| Trim75 |
A |
G |
8: 65,436,369 (GRCm39) |
V27A |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,548,105 (GRCm39) |
T32066A |
probably damaging |
Het |
| Txndc11 |
T |
C |
16: 10,893,087 (GRCm39) |
H881R |
probably benign |
Het |
| Ubp1 |
C |
T |
9: 113,787,775 (GRCm39) |
T222I |
probably benign |
Het |
| Unc5cl |
C |
G |
17: 48,766,833 (GRCm39) |
P69R |
possibly damaging |
Het |
| Zfp616 |
T |
A |
11: 73,961,950 (GRCm39) |
C24S |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
|
| Posted On |
2015-07-21 |
Incidental Mutation