Incidental Mutation 'IGL01016:Ppargc1a'
ID |
53581 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ppargc1a
|
Ensembl Gene |
ENSMUSG00000029167 |
Gene Name |
peroxisome proliferative activated receptor, gamma, coactivator 1 alpha |
Synonyms |
A830037N07Rik, Pgc-1alphaa, Pgc-1alpha, Pgco1, Pgc1, Gm11133, PPAR Gamma Coactivator-1 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.856)
|
Stock # |
IGL01016
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
51611592-51725068 bp(-) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
T to A
at 51655373 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143553
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031059]
[ENSMUST00000127135]
[ENSMUST00000132734]
[ENSMUST00000151104]
[ENSMUST00000196968]
|
AlphaFold |
O70343 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031059
|
SMART Domains |
Protein: ENSMUSP00000138397 Gene: ENSMUSG00000029167
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
40 |
N/A |
INTRINSIC |
low complexity region
|
141 |
147 |
N/A |
INTRINSIC |
PDB:3D24|D
|
197 |
218 |
1e-7 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000127135
|
SMART Domains |
Protein: ENSMUSP00000115586 Gene: ENSMUSG00000029167
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
27 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000132734
|
SMART Domains |
Protein: ENSMUSP00000117040 Gene: ENSMUSG00000029167
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
40 |
N/A |
INTRINSIC |
low complexity region
|
141 |
147 |
N/A |
INTRINSIC |
PDB:3D24|D
|
197 |
218 |
4e-7 |
PDB |
low complexity region
|
294 |
300 |
N/A |
INTRINSIC |
low complexity region
|
558 |
613 |
N/A |
INTRINSIC |
low complexity region
|
615 |
636 |
N/A |
INTRINSIC |
RRM
|
677 |
746 |
4.61e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151104
|
SMART Domains |
Protein: ENSMUSP00000116566 Gene: ENSMUSG00000029167
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
36 |
N/A |
INTRINSIC |
low complexity region
|
137 |
143 |
N/A |
INTRINSIC |
PDB:3D24|D
|
193 |
214 |
1e-7 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000196968
|
SMART Domains |
Protein: ENSMUSP00000143553 Gene: ENSMUSG00000029167
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
40 |
N/A |
INTRINSIC |
low complexity region
|
141 |
147 |
N/A |
INTRINSIC |
PDB:3D24|D
|
197 |
218 |
4e-7 |
PDB |
low complexity region
|
294 |
300 |
N/A |
INTRINSIC |
low complexity region
|
558 |
613 |
N/A |
INTRINSIC |
low complexity region
|
615 |
636 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199975
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a transcriptional coactivator that induces and coordinates gene expression regulating mitochondrial biogenesis, respiration, hepatic gluconeogenesis, thermogenic program in brown fat and muscle fiber-type switching. Mice lacking the encoded protein exhibit reduced thermogenic capacity, hyperactivity and resistance to diet-induced obesity. Mice lacking the encoded protein specifically in the heart exhibit peripartum cardiomyopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015] PHENOTYPE: Homozygous null mice display partial postnatal lethality, abnormal glucose and insulin homeostasis, resistance to diet induced obesity, increased oxygen consumption, spongiform encephalopathy, hyperactivity, increased startle reflex, and limb grasping. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cdh20 |
G |
A |
1: 110,036,686 (GRCm39) |
|
probably null |
Het |
Dennd1c |
T |
C |
17: 57,373,839 (GRCm39) |
I575V |
probably damaging |
Het |
Focad |
G |
A |
4: 88,310,252 (GRCm39) |
V1394I |
possibly damaging |
Het |
Gldc |
G |
A |
19: 30,110,893 (GRCm39) |
S570F |
possibly damaging |
Het |
Gm12695 |
T |
A |
4: 96,646,184 (GRCm39) |
Y286F |
probably benign |
Het |
Grid1 |
C |
T |
14: 34,544,596 (GRCm39) |
Q56* |
probably null |
Het |
Il7r |
A |
T |
15: 9,510,294 (GRCm39) |
V253E |
probably damaging |
Het |
Iqgap3 |
T |
C |
3: 88,014,867 (GRCm39) |
L861P |
probably damaging |
Het |
Kcnc3 |
C |
T |
7: 44,244,810 (GRCm39) |
R367W |
probably damaging |
Het |
Lipt1 |
T |
C |
1: 37,914,264 (GRCm39) |
Y107H |
probably damaging |
Het |
Mep1a |
T |
C |
17: 43,789,975 (GRCm39) |
E445G |
probably benign |
Het |
Mpo |
A |
G |
11: 87,688,436 (GRCm39) |
|
probably null |
Het |
Nme5 |
T |
C |
18: 34,711,712 (GRCm39) |
|
probably null |
Het |
Or52n2 |
A |
T |
7: 104,542,243 (GRCm39) |
N197K |
probably damaging |
Het |
Or8b54 |
T |
A |
9: 38,686,737 (GRCm39) |
F62Y |
probably damaging |
Het |
Or8s8 |
T |
A |
15: 98,354,186 (GRCm39) |
|
probably benign |
Het |
Papolg |
A |
T |
11: 23,835,570 (GRCm39) |
N83K |
possibly damaging |
Het |
Picalm |
A |
T |
7: 89,810,526 (GRCm39) |
D111V |
probably damaging |
Het |
Rnh1 |
G |
T |
7: 140,744,409 (GRCm39) |
|
probably benign |
Het |
Rpgrip1 |
T |
C |
14: 52,383,293 (GRCm39) |
Y576H |
probably damaging |
Het |
Sobp |
T |
A |
10: 42,898,874 (GRCm39) |
Y237F |
probably damaging |
Het |
Spink5 |
T |
C |
18: 44,140,711 (GRCm39) |
Y637H |
probably damaging |
Het |
St18 |
G |
T |
1: 6,914,547 (GRCm39) |
G797V |
probably damaging |
Het |
Tbx20 |
T |
C |
9: 24,661,617 (GRCm39) |
D293G |
probably damaging |
Het |
Tcl1b1 |
A |
T |
12: 105,130,663 (GRCm39) |
R49* |
probably null |
Het |
Tnfsf13b |
A |
G |
8: 10,081,612 (GRCm39) |
Q258R |
probably damaging |
Het |
Vmn1r223 |
A |
T |
13: 23,434,237 (GRCm39) |
Y277F |
probably damaging |
Het |
Wdr62 |
T |
C |
7: 29,953,676 (GRCm39) |
T146A |
probably benign |
Het |
Zfp236 |
G |
A |
18: 82,686,815 (GRCm39) |
A241V |
probably benign |
Het |
Zfp318 |
T |
C |
17: 46,711,003 (GRCm39) |
S909P |
probably damaging |
Het |
|
Other mutations in Ppargc1a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01063:Ppargc1a
|
APN |
5 |
51,631,664 (GRCm39) |
missense |
probably benign |
0.43 |
IGL01800:Ppargc1a
|
APN |
5 |
51,652,063 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02179:Ppargc1a
|
APN |
5 |
51,631,053 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02336:Ppargc1a
|
APN |
5 |
51,653,068 (GRCm39) |
nonsense |
probably null |
|
IGL02368:Ppargc1a
|
APN |
5 |
51,631,498 (GRCm39) |
missense |
probably benign |
0.05 |
BB007:Ppargc1a
|
UTSW |
5 |
51,630,264 (GRCm39) |
missense |
unknown |
|
BB017:Ppargc1a
|
UTSW |
5 |
51,630,264 (GRCm39) |
missense |
unknown |
|
R1300:Ppargc1a
|
UTSW |
5 |
51,706,014 (GRCm39) |
missense |
probably damaging |
1.00 |
R2048:Ppargc1a
|
UTSW |
5 |
51,705,858 (GRCm39) |
missense |
probably damaging |
1.00 |
R2054:Ppargc1a
|
UTSW |
5 |
51,631,130 (GRCm39) |
missense |
possibly damaging |
0.47 |
R2211:Ppargc1a
|
UTSW |
5 |
51,631,601 (GRCm39) |
missense |
possibly damaging |
0.47 |
R2848:Ppargc1a
|
UTSW |
5 |
51,631,151 (GRCm39) |
missense |
probably benign |
0.02 |
R4094:Ppargc1a
|
UTSW |
5 |
51,647,406 (GRCm39) |
missense |
possibly damaging |
0.47 |
R4419:Ppargc1a
|
UTSW |
5 |
51,652,044 (GRCm39) |
missense |
probably damaging |
1.00 |
R4552:Ppargc1a
|
UTSW |
5 |
51,620,557 (GRCm39) |
intron |
probably benign |
|
R4702:Ppargc1a
|
UTSW |
5 |
51,653,038 (GRCm39) |
missense |
possibly damaging |
0.73 |
R4855:Ppargc1a
|
UTSW |
5 |
51,631,564 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5287:Ppargc1a
|
UTSW |
5 |
51,620,167 (GRCm39) |
intron |
probably benign |
|
R5313:Ppargc1a
|
UTSW |
5 |
51,615,581 (GRCm39) |
utr 3 prime |
probably benign |
|
R5403:Ppargc1a
|
UTSW |
5 |
51,620,167 (GRCm39) |
intron |
probably benign |
|
R5711:Ppargc1a
|
UTSW |
5 |
51,631,562 (GRCm39) |
missense |
probably damaging |
1.00 |
R5918:Ppargc1a
|
UTSW |
5 |
51,620,579 (GRCm39) |
intron |
probably benign |
|
R5940:Ppargc1a
|
UTSW |
5 |
51,631,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R6170:Ppargc1a
|
UTSW |
5 |
51,631,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R6415:Ppargc1a
|
UTSW |
5 |
51,620,176 (GRCm39) |
intron |
probably benign |
|
R7718:Ppargc1a
|
UTSW |
5 |
51,655,504 (GRCm39) |
missense |
probably damaging |
1.00 |
R7755:Ppargc1a
|
UTSW |
5 |
51,630,883 (GRCm39) |
missense |
unknown |
|
R7793:Ppargc1a
|
UTSW |
5 |
51,619,851 (GRCm39) |
splice site |
probably null |
|
R7849:Ppargc1a
|
UTSW |
5 |
51,705,855 (GRCm39) |
missense |
probably benign |
0.45 |
R7930:Ppargc1a
|
UTSW |
5 |
51,630,264 (GRCm39) |
missense |
unknown |
|
R8169:Ppargc1a
|
UTSW |
5 |
51,631,026 (GRCm39) |
missense |
probably benign |
0.19 |
R8497:Ppargc1a
|
UTSW |
5 |
51,647,570 (GRCm39) |
missense |
probably damaging |
1.00 |
R8862:Ppargc1a
|
UTSW |
5 |
51,631,235 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8907:Ppargc1a
|
UTSW |
5 |
51,647,570 (GRCm39) |
missense |
probably damaging |
0.99 |
R9017:Ppargc1a
|
UTSW |
5 |
51,630,251 (GRCm39) |
missense |
unknown |
|
R9142:Ppargc1a
|
UTSW |
5 |
51,652,146 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9475:Ppargc1a
|
UTSW |
5 |
51,653,080 (GRCm39) |
missense |
probably damaging |
1.00 |
R9580:Ppargc1a
|
UTSW |
5 |
51,620,139 (GRCm39) |
missense |
unknown |
|
R9655:Ppargc1a
|
UTSW |
5 |
51,705,852 (GRCm39) |
critical splice donor site |
probably null |
|
X0019:Ppargc1a
|
UTSW |
5 |
51,706,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-06-28 |