Incidental Mutation 'R8194:Gpsm1'
| ID |
635329 |
| 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 |
067617-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8194 (G1)
|
| Quality Score |
173.468 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
26205527-26238249 bp(+) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
CT to CTT
at 26217364 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067964
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066889]
[ENSMUST00000066936]
[ENSMUST00000078616]
[ENSMUST00000114134]
[ENSMUST00000127453]
|
| AlphaFold |
Q6IR34 |
| Predicted Effect |
probably null
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 null
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 null
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 |
probably null
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 |
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
100% (51/51) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid4a |
T |
A |
12: 71,106,889 (GRCm39) |
Y320* |
probably null |
Het |
| Ash1l |
T |
A |
3: 88,960,062 (GRCm39) |
C2265S |
probably damaging |
Het |
| Atg4b |
T |
A |
1: 93,713,694 (GRCm39) |
C55* |
probably null |
Het |
| Cacna1s |
A |
T |
1: 136,005,430 (GRCm39) |
N405I |
probably benign |
Het |
| Capn11 |
A |
T |
17: 45,944,325 (GRCm39) |
D526E |
probably damaging |
Het |
| Ccdc188 |
A |
G |
16: 18,036,244 (GRCm39) |
R71G |
probably benign |
Het |
| Ccser2 |
G |
A |
14: 36,618,220 (GRCm39) |
R772W |
probably damaging |
Het |
| Cenpf |
T |
A |
1: 189,414,600 (GRCm39) |
E172D |
probably benign |
Het |
| Cep85 |
T |
C |
4: 133,861,400 (GRCm39) |
M627V |
probably null |
Het |
| Chd1 |
G |
A |
17: 17,594,737 (GRCm39) |
|
probably benign |
Het |
| Cnst |
A |
G |
1: 179,437,759 (GRCm39) |
H441R |
probably benign |
Het |
| Cyp2d11 |
G |
T |
15: 82,274,638 (GRCm39) |
T313N |
probably damaging |
Het |
| Cyp2g1 |
A |
G |
7: 26,514,159 (GRCm39) |
N255S |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,453,414 (GRCm39) |
D4395G |
probably damaging |
Het |
| Fam83h |
ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT |
ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT |
15: 75,874,624 (GRCm39) |
|
probably benign |
Het |
| Fcnb |
C |
T |
2: 27,968,330 (GRCm39) |
S209N |
possibly damaging |
Het |
| Lama4 |
A |
G |
10: 38,954,716 (GRCm39) |
S1090G |
probably damaging |
Het |
| Malrd1 |
A |
G |
2: 15,929,931 (GRCm39) |
D1479G |
unknown |
Het |
| Man2a2 |
T |
C |
7: 80,010,766 (GRCm39) |
K742E |
probably benign |
Het |
| Mapk8 |
A |
T |
14: 33,104,241 (GRCm39) |
S392T |
probably benign |
Het |
| Mark3 |
T |
C |
12: 111,559,117 (GRCm39) |
I53T |
probably damaging |
Het |
| Mcmdc2 |
A |
G |
1: 9,986,867 (GRCm39) |
I219V |
probably benign |
Het |
| Mlycd |
A |
T |
8: 120,134,332 (GRCm39) |
E278V |
probably benign |
Het |
| Muc2 |
G |
T |
7: 141,290,801 (GRCm39) |
C29F |
|
Het |
| Mup20 |
T |
C |
4: 61,971,721 (GRCm39) |
I77V |
probably benign |
Het |
| Myh3 |
A |
G |
11: 66,982,828 (GRCm39) |
E849G |
probably damaging |
Het |
| Nedd4 |
A |
G |
9: 72,593,389 (GRCm39) |
N154S |
probably damaging |
Het |
| Odad4 |
G |
A |
11: 100,454,502 (GRCm39) |
G429E |
probably benign |
Het |
| Or1e1f |
A |
T |
11: 73,856,240 (GRCm39) |
I269F |
probably benign |
Het |
| Pcdh7 |
A |
T |
5: 57,877,678 (GRCm39) |
N411I |
probably damaging |
Het |
| Plekhm1 |
A |
G |
11: 103,285,886 (GRCm39) |
I183T |
possibly damaging |
Het |
| Prkar2a |
G |
A |
9: 108,569,710 (GRCm39) |
V19M |
probably damaging |
Het |
| Prss35 |
T |
G |
9: 86,637,666 (GRCm39) |
N145K |
possibly damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,291,747 (GRCm39) |
D251E |
possibly damaging |
Het |
| Rnf169 |
C |
A |
7: 99,575,651 (GRCm39) |
V315F |
probably damaging |
Het |
| Slc32a1 |
T |
C |
2: 158,455,761 (GRCm39) |
Y139H |
probably damaging |
Het |
| Slc5a2 |
T |
C |
7: 127,870,328 (GRCm39) |
V522A |
probably benign |
Het |
| Slc6a6 |
A |
T |
6: 91,717,952 (GRCm39) |
Q297L |
probably damaging |
Het |
| Sos2 |
A |
C |
12: 69,645,598 (GRCm39) |
Y914D |
probably damaging |
Het |
| Spata1 |
G |
T |
3: 146,195,614 (GRCm39) |
T32N |
possibly damaging |
Het |
| Srcap |
C |
T |
7: 127,138,369 (GRCm39) |
R1180C |
probably damaging |
Het |
| St14 |
A |
T |
9: 31,042,921 (GRCm39) |
M1K |
probably null |
Het |
| Tcaf1 |
T |
C |
6: 42,652,236 (GRCm39) |
T749A |
probably benign |
Het |
| Tcp1 |
T |
C |
17: 13,141,621 (GRCm39) |
|
probably null |
Het |
| Tle6 |
A |
G |
10: 81,426,888 (GRCm39) |
V576A |
probably damaging |
Het |
| Usp17lc |
T |
A |
7: 103,067,407 (GRCm39) |
M234K |
probably benign |
Het |
| Washc4 |
A |
G |
10: 83,416,163 (GRCm39) |
I818V |
possibly damaging |
Het |
| Zdhhc18 |
A |
G |
4: 133,341,165 (GRCm39) |
L236P |
probably damaging |
Het |
| Zfp266 |
T |
C |
9: 20,411,610 (GRCm39) |
D189G |
probably benign |
Het |
| Zfp474 |
A |
T |
18: 52,772,229 (GRCm39) |
D294V |
probably damaging |
Het |
| Zfp568 |
T |
C |
7: 29,722,758 (GRCm39) |
F568L |
probably damaging |
Het |
| Zfp93 |
A |
G |
7: 23,975,479 (GRCm39) |
K488R |
probably benign |
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 |
|
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 |
|
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'- CTCAGAAAGCCAAGGGTCTG -3'
(R):5'- GACCTACTCTGTGTCCTGAACTG -3'
Sequencing Primer
(F):5'- AAGGGTCTGAGGTCAGCC -3'
(R):5'- GTGTCCTGAACTGTCTCCC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation