Incidental Mutation 'R1639:Gpsm1'
| ID |
173352 |
| 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 |
039675-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1639 (G1)
|
| Quality Score |
175 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
26205527-26238249 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26235199 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 371
(E371G)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028295]
[ENSMUST00000066889]
[ENSMUST00000066936]
[ENSMUST00000078616]
[ENSMUST00000114134]
[ENSMUST00000127453]
|
| AlphaFold |
Q6IR34 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028295
|
| SMART Domains |
Protein: ENSMUSP00000028295
Gene: ENSMUSG00000075467
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
67 |
N/A |
INTRINSIC |
|
Pfam:zf-DNL
|
74 |
139 |
4.1e-34 |
PFAM |
|
low complexity region
|
158 |
172 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066889
AA Change: E580G
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000067964
Gene: ENSMUSG00000026930
AA Change: E580G
| 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 damaging
Transcript: ENSMUST00000066936
AA Change: E548G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000065000
Gene: ENSMUSG00000026930
AA Change: E548G
| 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 damaging
Transcript: ENSMUST00000078616
AA Change: E488G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000077686
Gene: ENSMUSG00000026930
AA Change: E488G
| 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 damaging
Transcript: ENSMUST00000114134
AA Change: E111G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000109769
Gene: ENSMUSG00000026930
AA Change: E111G
| 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 |
noncoding transcript
Transcript: ENSMUST00000125848
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000145884
AA Change: E371G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115680
Gene: ENSMUSG00000026930
AA Change: E371G
| 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: ENSMUST00000147873
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142057
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132276
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152895
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127453
|
| Meta Mutation Damage Score |
0.3613 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.7%
|
| Validation Efficiency |
96% (66/69) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
C |
A |
2: 155,398,828 (GRCm39) |
T425N |
probably benign |
Het |
| Adam18 |
T |
A |
8: 25,142,168 (GRCm39) |
I203L |
probably benign |
Het |
| Amigo2 |
A |
G |
15: 97,143,879 (GRCm39) |
M181T |
probably benign |
Het |
| Anks1 |
T |
A |
17: 28,277,280 (GRCm39) |
I1045N |
probably damaging |
Het |
| Ap3d1 |
C |
T |
10: 80,565,844 (GRCm39) |
V108I |
probably damaging |
Het |
| Arl8a |
C |
T |
1: 135,080,561 (GRCm39) |
R57* |
probably null |
Het |
| Atp12a |
A |
T |
14: 56,621,525 (GRCm39) |
D720V |
possibly damaging |
Het |
| Brpf3 |
T |
C |
17: 29,043,042 (GRCm39) |
|
probably null |
Het |
| C2 |
T |
C |
17: 35,091,379 (GRCm39) |
K95E |
probably benign |
Het |
| Cdk19 |
T |
C |
10: 40,352,965 (GRCm39) |
|
probably null |
Het |
| Cebpz |
T |
A |
17: 79,242,035 (GRCm39) |
I540L |
possibly damaging |
Het |
| Cep128 |
A |
G |
12: 91,333,142 (GRCm39) |
V41A |
probably damaging |
Het |
| Cog7 |
T |
C |
7: 121,580,642 (GRCm39) |
E56G |
probably damaging |
Het |
| Cylc2 |
T |
C |
4: 51,228,310 (GRCm39) |
V127A |
probably benign |
Het |
| Cyp2b23 |
A |
G |
7: 26,385,842 (GRCm39) |
V5A |
possibly damaging |
Het |
| Cyp8b1 |
A |
G |
9: 121,743,956 (GRCm39) |
Y459H |
probably benign |
Het |
| Dbpht2 |
A |
G |
12: 74,345,932 (GRCm39) |
|
noncoding transcript |
Het |
| Ddx24 |
T |
C |
12: 103,377,578 (GRCm39) |
|
probably null |
Het |
| Dgki |
C |
T |
6: 36,914,299 (GRCm39) |
C757Y |
probably damaging |
Het |
| Eef2k |
T |
A |
7: 120,485,051 (GRCm39) |
L306H |
probably damaging |
Het |
| Ephb2 |
T |
C |
4: 136,421,216 (GRCm39) |
N378S |
probably benign |
Het |
| Espl1 |
C |
T |
15: 102,229,149 (GRCm39) |
T1767I |
probably damaging |
Het |
| Fbn2 |
C |
A |
18: 58,191,534 (GRCm39) |
A1530S |
probably benign |
Het |
| Fndc11 |
A |
G |
2: 180,863,374 (GRCm39) |
S60G |
possibly damaging |
Het |
| Glb1l |
G |
T |
1: 75,176,245 (GRCm39) |
Q612K |
probably benign |
Het |
| Gtpbp2 |
G |
A |
17: 46,476,697 (GRCm39) |
|
probably null |
Het |
| Itch |
A |
G |
2: 155,020,945 (GRCm39) |
|
probably null |
Het |
| Itga2 |
T |
C |
13: 114,993,832 (GRCm39) |
T774A |
probably benign |
Het |
| Kit |
A |
G |
5: 75,813,467 (GRCm39) |
I881V |
probably damaging |
Het |
| Lpar5 |
T |
C |
6: 125,058,564 (GRCm39) |
L95P |
probably damaging |
Het |
| Lrp6 |
T |
C |
6: 134,430,529 (GRCm39) |
T1511A |
possibly damaging |
Het |
| Mgat4c |
T |
C |
10: 102,214,142 (GRCm39) |
Y42H |
probably damaging |
Het |
| Mpp3 |
G |
T |
11: 101,914,268 (GRCm39) |
T109K |
probably damaging |
Het |
| Msantd4 |
A |
G |
9: 4,385,199 (GRCm39) |
E308G |
probably damaging |
Het |
| Mug1 |
T |
C |
6: 121,857,530 (GRCm39) |
S1085P |
probably damaging |
Het |
| Myo5b |
A |
G |
18: 74,840,987 (GRCm39) |
H956R |
probably benign |
Het |
| Ncoa7 |
A |
C |
10: 30,577,988 (GRCm39) |
L132R |
probably damaging |
Het |
| Ndufc1 |
T |
C |
3: 51,315,664 (GRCm39) |
T25A |
probably benign |
Het |
| Or4a81 |
T |
C |
2: 89,619,589 (GRCm39) |
T36A |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,404,351 (GRCm39) |
V2327M |
probably damaging |
Het |
| Ppp1r9b |
T |
C |
11: 94,887,436 (GRCm39) |
Y59H |
probably damaging |
Het |
| Sema4c |
A |
T |
1: 36,592,615 (GRCm39) |
F152I |
probably benign |
Het |
| Slit2 |
A |
T |
5: 48,416,996 (GRCm39) |
Y1016F |
probably damaging |
Het |
| Spata31d1c |
T |
A |
13: 65,183,853 (GRCm39) |
V465D |
probably benign |
Het |
| Ssc5d |
T |
C |
7: 4,931,416 (GRCm39) |
C208R |
probably damaging |
Het |
| Stambpl1 |
T |
G |
19: 34,213,707 (GRCm39) |
V312G |
probably benign |
Het |
| Stim1 |
T |
A |
7: 102,003,748 (GRCm39) |
D60E |
probably benign |
Het |
| Syt13 |
T |
A |
2: 92,776,316 (GRCm39) |
V201D |
probably benign |
Het |
| Tcaim |
G |
A |
9: 122,647,838 (GRCm39) |
|
probably null |
Het |
| Tex15 |
T |
C |
8: 34,060,845 (GRCm39) |
S366P |
possibly damaging |
Het |
| Tex56 |
T |
C |
13: 35,128,233 (GRCm39) |
I150T |
possibly damaging |
Het |
| Tpte |
G |
A |
8: 22,810,913 (GRCm39) |
R190H |
probably benign |
Het |
| Vmn1r4 |
T |
C |
6: 56,934,060 (GRCm39) |
V188A |
probably damaging |
Het |
| Vmn2r88 |
A |
G |
14: 51,654,244 (GRCm39) |
D542G |
probably damaging |
Het |
| Vps33b |
T |
A |
7: 79,934,101 (GRCm39) |
I257N |
probably damaging |
Het |
| Wwox |
G |
T |
8: 115,172,118 (GRCm39) |
G71* |
probably null |
Het |
| Zc3h11a |
G |
T |
1: 133,552,446 (GRCm39) |
Q554K |
probably benign |
Het |
| Zfp947 |
T |
C |
17: 22,365,074 (GRCm39) |
K200R |
probably benign |
Het |
| Zscan12 |
T |
A |
13: 21,553,156 (GRCm39) |
C327S |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGAAGTGTCTATGCATCCCAGCC -3'
(R):5'- AAGCTCCACCCATTGCCTTCTGAG -3'
Sequencing Primer
(F):5'- ATCCCAGCCTTTGAGTGTG -3'
(R):5'- CAGACCCACCTGGTATTTGATAAG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation