Incidental Mutation 'IGL01605:G0s2'
ID |
278744 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
G0s2
|
Ensembl Gene |
ENSMUSG00000009633 |
Gene Name |
G0/G1 switch gene 2 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.123)
|
Stock # |
IGL01605
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
192954468-192955496 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 192954964 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 40
(L40P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000009777
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009777]
[ENSMUST00000192322]
[ENSMUST00000194677]
|
AlphaFold |
Q61585 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000009777
AA Change: L40P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000009777 Gene: ENSMUSG00000009633 AA Change: L40P
Domain | Start | End | E-Value | Type |
Pfam:G0-G1_switch_2
|
1 |
103 |
1.8e-46 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192322
|
SMART Domains |
Protein: ENSMUSP00000141302 Gene: ENSMUSG00000026639
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
LamNT
|
20 |
244 |
2.9e-80 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193128
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194677
|
SMART Domains |
Protein: ENSMUSP00000142053 Gene: ENSMUSG00000026639
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
LamNT
|
20 |
248 |
7.63e-84 |
SMART |
EGF_Lam
|
250 |
310 |
1.67e-7 |
SMART |
EGF_Lam
|
313 |
373 |
1.14e-9 |
SMART |
EGF_Lam
|
376 |
425 |
5.56e-13 |
SMART |
EGF_Lam
|
428 |
475 |
6.05e-14 |
SMART |
EGF_Lam
|
478 |
528 |
5e-6 |
SMART |
EGF_Lam
|
531 |
575 |
3.01e-9 |
SMART |
low complexity region
|
662 |
673 |
N/A |
INTRINSIC |
low complexity region
|
727 |
763 |
N/A |
INTRINSIC |
coiled coil region
|
830 |
879 |
N/A |
INTRINSIC |
coiled coil region
|
949 |
979 |
N/A |
INTRINSIC |
coiled coil region
|
1037 |
1090 |
N/A |
INTRINSIC |
low complexity region
|
1116 |
1126 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous null mice are lean, glucose tolerant and insulin sensitive, and show reduced liver triglyceride levels, enhanced lipolysis, reduced white fat cell size, resistance to diet-induced obesity and liver steatosis, increased oxygen consumption and thermogenesis, and enhanced cold tolerance. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Brip1 |
T |
A |
11: 85,952,830 (GRCm39) |
T984S |
possibly damaging |
Het |
Cdh17 |
T |
C |
4: 11,795,670 (GRCm39) |
Y417H |
probably damaging |
Het |
Chd7 |
T |
A |
4: 8,833,834 (GRCm39) |
I1196N |
probably damaging |
Het |
Cyp3a57 |
T |
C |
5: 145,323,854 (GRCm39) |
F447S |
probably damaging |
Het |
Dock8 |
C |
T |
19: 25,067,252 (GRCm39) |
|
probably benign |
Het |
Eif1ad5 |
A |
T |
12: 87,940,530 (GRCm39) |
|
noncoding transcript |
Het |
Fam163b |
A |
G |
2: 27,002,688 (GRCm39) |
F103S |
probably damaging |
Het |
Gucy1b1 |
C |
T |
3: 81,942,660 (GRCm39) |
R494Q |
probably benign |
Het |
Hsd17b1 |
T |
C |
11: 100,969,755 (GRCm39) |
V89A |
probably damaging |
Het |
Iqcg |
T |
C |
16: 32,837,348 (GRCm39) |
|
probably benign |
Het |
Lmo7 |
T |
C |
14: 102,148,192 (GRCm39) |
|
probably benign |
Het |
Mmp17 |
A |
G |
5: 129,679,008 (GRCm39) |
D331G |
probably benign |
Het |
Mnx1 |
T |
C |
5: 29,682,591 (GRCm39) |
D228G |
unknown |
Het |
Msh2 |
T |
C |
17: 88,003,917 (GRCm39) |
|
probably benign |
Het |
Pabpc1 |
A |
G |
15: 36,599,550 (GRCm39) |
Y382H |
probably benign |
Het |
Prl7b1 |
A |
G |
13: 27,786,027 (GRCm39) |
S214P |
possibly damaging |
Het |
Ptk2 |
C |
T |
15: 73,136,188 (GRCm39) |
|
probably benign |
Het |
Rbpj-ps3 |
T |
C |
6: 46,507,025 (GRCm39) |
|
probably benign |
Het |
Sgsm1 |
A |
T |
5: 113,433,531 (GRCm39) |
M162K |
possibly damaging |
Het |
Skint2 |
A |
G |
4: 112,483,191 (GRCm39) |
T199A |
probably benign |
Het |
Stim1 |
A |
G |
7: 102,035,322 (GRCm39) |
D100G |
possibly damaging |
Het |
Taar5 |
C |
T |
10: 23,846,962 (GRCm39) |
T120I |
probably benign |
Het |
Trhde |
A |
G |
10: 114,623,848 (GRCm39) |
V352A |
probably benign |
Het |
Ubap2 |
T |
A |
4: 41,227,237 (GRCm39) |
D160V |
probably damaging |
Het |
Vmn2r18 |
A |
G |
5: 151,510,106 (GRCm39) |
V89A |
possibly damaging |
Het |
Wbp1l |
A |
G |
19: 46,642,839 (GRCm39) |
D264G |
possibly damaging |
Het |
|
Other mutations in G0s2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01558:G0s2
|
APN |
1 |
192,955,003 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01602:G0s2
|
APN |
1 |
192,954,964 (GRCm39) |
missense |
probably damaging |
1.00 |
R5070:G0s2
|
UTSW |
1 |
192,954,870 (GRCm39) |
missense |
probably damaging |
0.96 |
R5638:G0s2
|
UTSW |
1 |
192,954,859 (GRCm39) |
missense |
probably damaging |
0.98 |
R7566:G0s2
|
UTSW |
1 |
192,955,076 (GRCm39) |
missense |
probably benign |
0.16 |
R7838:G0s2
|
UTSW |
1 |
192,955,081 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
Posted On |
2015-04-16 |