Incidental Mutation 'R6153:Gpsm1'
ID |
489360 |
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 |
044300-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6153 (G1)
|
Quality Score |
171.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
26205527-26238249 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 26215425 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 296
(Y296H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000077686
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066889]
[ENSMUST00000066936]
[ENSMUST00000078616]
[ENSMUST00000114134]
|
AlphaFold |
Q6IR34 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000066889
AA Change: Y328H
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000067964 Gene: ENSMUSG00000026930 AA Change: Y328H
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: Y296H
PolyPhen 2
Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000065000 Gene: ENSMUSG00000026930 AA Change: Y296H
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: Y296H
PolyPhen 2
Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000077686 Gene: ENSMUSG00000026930 AA Change: Y296H
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 |
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
|
Meta Mutation Damage Score |
0.1535 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.3%
|
Validation Efficiency |
99% (66/67) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
G |
T |
11: 9,251,259 (GRCm39) |
|
probably null |
Het |
Ache |
T |
C |
5: 137,290,117 (GRCm39) |
I394T |
probably damaging |
Het |
Acsm1 |
G |
A |
7: 119,232,289 (GRCm39) |
G62D |
probably damaging |
Het |
Actrt3 |
T |
A |
3: 30,653,899 (GRCm39) |
I34F |
probably damaging |
Het |
Adgrf5 |
T |
C |
17: 43,761,974 (GRCm39) |
I1223T |
possibly damaging |
Het |
Adora2a |
T |
C |
10: 75,161,981 (GRCm39) |
F40S |
possibly damaging |
Het |
Ano8 |
T |
C |
8: 71,933,441 (GRCm39) |
|
probably benign |
Het |
Arid1b |
T |
A |
17: 5,293,107 (GRCm39) |
L675Q |
probably damaging |
Het |
Atg2b |
T |
C |
12: 105,589,741 (GRCm39) |
I1837V |
possibly damaging |
Het |
Atp10b |
A |
G |
11: 43,145,109 (GRCm39) |
Y1284C |
probably damaging |
Het |
B3gnt7 |
G |
T |
1: 86,233,237 (GRCm39) |
G44V |
probably damaging |
Het |
Chrna1 |
G |
T |
2: 73,403,653 (GRCm39) |
H99N |
probably benign |
Het |
Cnksr1 |
T |
C |
4: 133,961,204 (GRCm39) |
H220R |
probably damaging |
Het |
Cpsf2 |
T |
A |
12: 101,965,619 (GRCm39) |
|
probably null |
Het |
Daglb |
T |
C |
5: 143,489,096 (GRCm39) |
L651P |
probably benign |
Het |
Ddx60 |
A |
G |
8: 62,398,974 (GRCm39) |
D231G |
possibly damaging |
Het |
Ehd4 |
A |
C |
2: 119,932,904 (GRCm39) |
F174C |
probably damaging |
Het |
Emsy |
G |
T |
7: 98,260,060 (GRCm39) |
P9T |
probably damaging |
Het |
Fnbp1l |
T |
C |
3: 122,352,805 (GRCm39) |
E217G |
probably benign |
Het |
Gm11596 |
A |
T |
11: 99,683,524 (GRCm39) |
C199S |
unknown |
Het |
Gmps |
T |
G |
3: 63,908,964 (GRCm39) |
C489G |
probably benign |
Het |
Heatr5b |
T |
C |
17: 79,138,870 (GRCm39) |
T91A |
possibly damaging |
Het |
Hs3st3b1 |
A |
T |
11: 63,780,324 (GRCm39) |
W268R |
probably damaging |
Het |
Il27ra |
T |
C |
8: 84,758,773 (GRCm39) |
|
probably null |
Het |
Itga5 |
T |
A |
15: 103,265,880 (GRCm39) |
I156F |
probably damaging |
Het |
Kcnmb3 |
T |
A |
3: 32,527,976 (GRCm39) |
D96V |
probably damaging |
Het |
Khdrbs1 |
T |
A |
4: 129,609,965 (GRCm39) |
N417Y |
probably damaging |
Het |
Loxhd1 |
A |
G |
18: 77,383,454 (GRCm39) |
N118D |
possibly damaging |
Het |
Mdm4 |
A |
G |
1: 132,919,845 (GRCm39) |
L341P |
probably damaging |
Het |
Mecom |
T |
C |
3: 30,047,797 (GRCm39) |
E225G |
possibly damaging |
Het |
Megf8 |
G |
A |
7: 25,046,796 (GRCm39) |
G1560S |
possibly damaging |
Het |
Mfsd13a |
A |
T |
19: 46,356,321 (GRCm39) |
D142V |
probably damaging |
Het |
Muc5b |
A |
T |
7: 141,415,181 (GRCm39) |
Y2709F |
possibly damaging |
Het |
Nelfa |
A |
T |
5: 34,056,223 (GRCm39) |
I480N |
probably damaging |
Het |
Or10ak8 |
G |
A |
4: 118,773,944 (GRCm39) |
S240F |
probably damaging |
Het |
Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
Palld |
G |
T |
8: 62,003,186 (GRCm39) |
N304K |
probably damaging |
Het |
Pcsk5 |
A |
G |
19: 17,488,856 (GRCm39) |
L988P |
probably damaging |
Het |
Prmt1 |
A |
T |
7: 44,631,251 (GRCm39) |
F34I |
probably damaging |
Het |
Pzp |
A |
G |
6: 128,465,979 (GRCm39) |
S1234P |
probably benign |
Het |
Ralb |
A |
T |
1: 119,405,870 (GRCm39) |
|
probably null |
Het |
Robo2 |
T |
A |
16: 73,717,617 (GRCm39) |
D141V |
probably damaging |
Het |
Rsrc1 |
T |
C |
3: 67,262,895 (GRCm39) |
I283T |
probably benign |
Het |
Sec62 |
A |
T |
3: 30,864,631 (GRCm39) |
K165M |
unknown |
Het |
Sez6 |
A |
G |
11: 77,868,648 (GRCm39) |
D974G |
probably damaging |
Het |
Shc2 |
T |
A |
10: 79,465,752 (GRCm39) |
I187F |
possibly damaging |
Het |
Shroom3 |
G |
A |
5: 93,112,267 (GRCm39) |
R1876Q |
probably damaging |
Het |
Siglecg |
C |
A |
7: 43,061,441 (GRCm39) |
N481K |
possibly damaging |
Het |
Skil |
T |
A |
3: 31,152,002 (GRCm39) |
F175I |
probably damaging |
Het |
Slc1a1 |
T |
C |
19: 28,886,935 (GRCm39) |
V432A |
probably damaging |
Het |
Slit3 |
G |
T |
11: 35,591,310 (GRCm39) |
G1374V |
possibly damaging |
Het |
Snx14 |
T |
C |
9: 88,273,859 (GRCm39) |
Y644C |
probably damaging |
Het |
Snx33 |
T |
A |
9: 56,833,983 (GRCm39) |
I29F |
possibly damaging |
Het |
Sos1 |
T |
A |
17: 80,756,764 (GRCm39) |
I263L |
probably benign |
Het |
Susd2 |
C |
T |
10: 75,473,853 (GRCm39) |
A581T |
probably damaging |
Het |
Tbpl2 |
C |
A |
2: 23,966,028 (GRCm39) |
V320F |
probably damaging |
Het |
Tmem209 |
A |
G |
6: 30,505,794 (GRCm39) |
S171P |
probably benign |
Het |
Tprkb |
T |
A |
6: 85,893,172 (GRCm39) |
|
probably null |
Het |
Tspan11 |
G |
A |
6: 127,916,061 (GRCm39) |
S119N |
probably benign |
Het |
Ulk2 |
A |
T |
11: 61,672,572 (GRCm39) |
V922D |
probably damaging |
Het |
Zfp267 |
A |
G |
3: 36,219,303 (GRCm39) |
H442R |
possibly damaging |
Het |
Zfp976 |
A |
C |
7: 42,263,610 (GRCm39) |
Y76D |
probably damaging |
Het |
Zkscan2 |
G |
A |
7: 123,088,993 (GRCm39) |
T426I |
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 |
|
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'- TTGAGTGCAGTGGCCATTTC -3'
(R):5'- TGGACCTACCTATTTGCTTACACTG -3'
Sequencing Primer
(F):5'- TGCAGTGGCCATTTCAAGATGAAC -3'
(R):5'- CCACTGAGGGATTGGCTGAG -3'
|
Posted On |
2017-10-10 |