Incidental Mutation 'IGL00693:Gpsm3'
| ID |
11126 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gpsm3
|
| Ensembl Gene |
ENSMUSG00000034786 |
| Gene Name |
G-protein signalling modulator 3 (AGS3-like, C. elegans) |
| Synonyms |
AGS4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00693
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
34808780-34810728 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34810247 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 149
(E149G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045911
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015612]
[ENSMUST00000038149]
[ENSMUST00000038244]
[ENSMUST00000150924]
[ENSMUST00000173772]
[ENSMUST00000173328]
[ENSMUST00000173389]
[ENSMUST00000183827]
[ENSMUST00000174532]
|
| AlphaFold |
Q3U1Z5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015612
|
| SMART Domains |
Protein: ENSMUSP00000015612
Gene: ENSMUSG00000015468
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
EGF
|
24 |
60 |
3.2e-4 |
SMART |
|
EGF
|
64 |
112 |
1.07e-5 |
SMART |
|
EGF
|
118 |
152 |
5.49e-3 |
SMART |
|
EGF
|
156 |
189 |
9.33e-6 |
SMART |
|
EGF_CA
|
191 |
229 |
1.42e-10 |
SMART |
|
EGF
|
234 |
271 |
1.11e-3 |
SMART |
|
EGF
|
276 |
309 |
1.84e-4 |
SMART |
|
EGF_CA
|
311 |
350 |
2.52e-11 |
SMART |
|
EGF_CA
|
352 |
388 |
1.85e-9 |
SMART |
|
EGF
|
392 |
427 |
1.58e-3 |
SMART |
|
EGF_CA
|
429 |
470 |
2.46e-14 |
SMART |
|
EGF_CA
|
472 |
508 |
5.03e-11 |
SMART |
|
EGF_CA
|
510 |
546 |
6.74e-12 |
SMART |
|
EGF_CA
|
548 |
584 |
2.98e-13 |
SMART |
|
EGF_CA
|
586 |
622 |
7.63e-11 |
SMART |
|
EGF_like
|
645 |
686 |
2.86e1 |
SMART |
|
EGF
|
691 |
724 |
3.48e-5 |
SMART |
|
EGF
|
729 |
762 |
3.62e-3 |
SMART |
|
EGF_CA
|
764 |
800 |
1.48e-8 |
SMART |
|
EGF
|
806 |
839 |
1.74e-5 |
SMART |
|
EGF
|
844 |
877 |
2.3e-5 |
SMART |
|
EGF
|
881 |
924 |
3.59e-7 |
SMART |
|
EGF_CA
|
926 |
962 |
7.29e-8 |
SMART |
|
EGF_CA
|
965 |
1000 |
4.42e-7 |
SMART |
|
EGF_CA
|
1002 |
1040 |
4.56e-9 |
SMART |
|
EGF
|
1045 |
1081 |
6.16e-6 |
SMART |
|
EGF
|
1086 |
1122 |
8.65e-1 |
SMART |
|
EGF
|
1129 |
1167 |
1.45e-2 |
SMART |
|
NL
|
1159 |
1200 |
6.79e-13 |
SMART |
|
NL
|
1203 |
1242 |
2.01e-15 |
SMART |
|
NL
|
1243 |
1281 |
1.85e-14 |
SMART |
|
NOD
|
1287 |
1341 |
4.37e-8 |
SMART |
|
NODP
|
1373 |
1437 |
2.12e-6 |
SMART |
|
transmembrane domain
|
1441 |
1463 |
N/A |
INTRINSIC |
|
low complexity region
|
1525 |
1539 |
N/A |
INTRINSIC |
|
ANK
|
1578 |
1623 |
2.5e3 |
SMART |
|
ANK
|
1628 |
1657 |
1.12e-3 |
SMART |
|
ANK
|
1661 |
1691 |
5.01e-1 |
SMART |
|
ANK
|
1695 |
1724 |
1.65e-1 |
SMART |
|
ANK
|
1728 |
1757 |
4.56e-4 |
SMART |
|
ANK
|
1761 |
1790 |
2.88e-1 |
SMART |
|
low complexity region
|
1889 |
1906 |
N/A |
INTRINSIC |
|
low complexity region
|
1925 |
1937 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038149
|
| SMART Domains |
Protein: ENSMUSP00000040464
Gene: ENSMUSG00000034673
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
49 |
N/A |
INTRINSIC |
|
Pfam:PBC
|
50 |
243 |
1.3e-97 |
PFAM |
|
HOX
|
244 |
309 |
1.9e-18 |
SMART |
|
low complexity region
|
327 |
353 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038244
AA Change: E149G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000045911
Gene: ENSMUSG00000034786
AA Change: E149G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
42 |
N/A |
INTRINSIC |
|
GoLoco
|
61 |
83 |
2.02e-6 |
SMART |
|
low complexity region
|
86 |
100 |
N/A |
INTRINSIC |
|
GoLoco
|
103 |
125 |
2.42e-4 |
SMART |
|
GoLoco
|
131 |
154 |
4.05e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126702
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141768
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150441
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150924
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000173772
AA Change: E45G
|
| SMART Domains |
Protein: ENSMUSP00000134130
Gene: ENSMUSG00000034786
AA Change: E45G
| Domain | Start | End | E-Value | Type |
|---|
|
GoLoco
|
27 |
50 |
4.05e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156724
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173229
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173328
|
| SMART Domains |
Protein: ENSMUSP00000133766
Gene: ENSMUSG00000034673
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBC
|
1 |
161 |
5e-84 |
PFAM |
|
HOX
|
162 |
227 |
1.9e-18 |
SMART |
|
low complexity region
|
245 |
271 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151654
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151867
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173389
|
| SMART Domains |
Protein: ENSMUSP00000133574
Gene: ENSMUSG00000015468
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
EGF
|
28 |
64 |
3.2e-4 |
SMART |
|
EGF
|
68 |
116 |
1.07e-5 |
SMART |
|
EGF
|
122 |
156 |
5.49e-3 |
SMART |
|
EGF
|
160 |
193 |
9.33e-6 |
SMART |
|
EGF_CA
|
195 |
233 |
1.42e-10 |
SMART |
|
EGF
|
238 |
275 |
1.11e-3 |
SMART |
|
EGF
|
280 |
313 |
1.84e-4 |
SMART |
|
EGF_CA
|
315 |
354 |
2.52e-11 |
SMART |
|
EGF_CA
|
356 |
392 |
1.85e-9 |
SMART |
|
EGF
|
396 |
431 |
1.58e-3 |
SMART |
|
EGF_CA
|
433 |
474 |
2.46e-14 |
SMART |
|
EGF_CA
|
476 |
512 |
5.03e-11 |
SMART |
|
EGF_CA
|
514 |
550 |
6.74e-12 |
SMART |
|
EGF_CA
|
552 |
588 |
2.98e-13 |
SMART |
|
EGF_CA
|
590 |
626 |
7.63e-11 |
SMART |
|
EGF_like
|
649 |
690 |
2.86e1 |
SMART |
|
EGF
|
695 |
728 |
3.48e-5 |
SMART |
|
EGF
|
733 |
766 |
3.62e-3 |
SMART |
|
EGF_CA
|
768 |
804 |
1.48e-8 |
SMART |
|
EGF
|
810 |
843 |
1.74e-5 |
SMART |
|
EGF
|
848 |
881 |
2.3e-5 |
SMART |
|
EGF
|
885 |
928 |
3.59e-7 |
SMART |
|
EGF_like
|
930 |
955 |
7.02e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183827
|
| SMART Domains |
Protein: ENSMUSP00000139079
Gene: ENSMUSG00000034673
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBC
|
1 |
183 |
9.5e-98 |
PFAM |
|
HOX
|
184 |
249 |
1.9e-18 |
SMART |
|
low complexity region
|
267 |
293 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174532
|
| SMART Domains |
Protein: ENSMUSP00000133744
Gene: ENSMUSG00000034673
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBC
|
1 |
148 |
3.5e-74 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit a reduction in the number, viability, and chemotactic function of monocytes and show decreased susceptibility to collagen antibody-induced arthritis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a7 |
G |
A |
19: 20,677,410 (GRCm39) |
P404S |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,106,696 (GRCm39) |
|
probably benign |
Het |
| Ccng1 |
A |
G |
11: 40,644,885 (GRCm39) |
V4A |
probably benign |
Het |
| Col4a3 |
T |
C |
1: 82,675,475 (GRCm39) |
Y1176H |
unknown |
Het |
| Dyrk3 |
T |
C |
1: 131,064,074 (GRCm39) |
I3V |
possibly damaging |
Het |
| Hsd3b6 |
A |
C |
3: 98,713,594 (GRCm39) |
L235R |
probably damaging |
Het |
| Ipo11 |
A |
T |
13: 107,033,768 (GRCm39) |
F238Y |
probably damaging |
Het |
| Kcnh7 |
C |
T |
2: 62,564,598 (GRCm39) |
R887K |
probably benign |
Het |
| Lrrc8a |
T |
C |
2: 30,145,327 (GRCm39) |
V47A |
probably benign |
Het |
| Lsm14b |
A |
G |
2: 179,674,419 (GRCm39) |
N241D |
probably damaging |
Het |
| Mtss1 |
T |
A |
15: 58,815,973 (GRCm39) |
D529V |
probably damaging |
Het |
| Nup58 |
A |
T |
14: 60,475,969 (GRCm39) |
S283T |
probably benign |
Het |
| Odad2 |
C |
T |
18: 7,211,504 (GRCm39) |
G790D |
probably damaging |
Het |
| Pno1 |
A |
G |
11: 17,161,317 (GRCm39) |
L64P |
probably benign |
Het |
| Pramel28 |
G |
T |
4: 143,692,392 (GRCm39) |
P203Q |
possibly damaging |
Het |
| Proc |
A |
G |
18: 32,256,566 (GRCm39) |
V367A |
probably benign |
Het |
| Sez6l |
A |
T |
5: 112,569,879 (GRCm39) |
I964N |
probably damaging |
Het |
| Speer2 |
A |
T |
16: 69,657,406 (GRCm39) |
M79K |
probably benign |
Het |
| Tef |
T |
C |
15: 81,699,384 (GRCm39) |
S131P |
probably benign |
Het |
| Ubr2 |
T |
C |
17: 47,283,907 (GRCm39) |
T581A |
probably benign |
Het |
| Unc13c |
A |
T |
9: 73,665,884 (GRCm39) |
D1045E |
probably benign |
Het |
| Vsig8 |
T |
C |
1: 172,389,156 (GRCm39) |
V136A |
probably damaging |
Het |
| Wee1 |
A |
T |
7: 109,734,060 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Gpsm3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1783:Gpsm3
|
UTSW |
17 |
34,809,728 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2475:Gpsm3
|
UTSW |
17 |
34,809,534 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6841:Gpsm3
|
UTSW |
17 |
34,809,536 (GRCm39) |
splice site |
probably null |
|
|
R8191:Gpsm3
|
UTSW |
17 |
34,809,451 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Posted On |
2012-12-06 |
Incidental Mutation