Incidental Mutation 'IGL00767:Polg'
| ID |
13087 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Polg
|
| Ensembl Gene |
ENSMUSG00000039176 |
| Gene Name |
polymerase (DNA directed), gamma |
| Synonyms |
Pol gamma, Polga, mitochondrial DNA polymerase gamma, mitochondrial DNA polymerase-gamma, polymerase gamma |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00767
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
79446231-79466362 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 79451925 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 1048
(P1048S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073551
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036865]
[ENSMUST00000073889]
[ENSMUST00000132048]
[ENSMUST00000132091]
[ENSMUST00000139290]
[ENSMUST00000149444]
[ENSMUST00000201907]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036865
|
| SMART Domains |
Protein: ENSMUSP00000044931
Gene: ENSMUSG00000039187
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FANCI_S1-cap
|
1 |
53 |
7.5e-27 |
PFAM |
|
Pfam:FANCI_S1
|
62 |
280 |
3.5e-78 |
PFAM |
|
Pfam:FANCI_HD1
|
284 |
370 |
1.6e-37 |
PFAM |
|
Pfam:FANCI_S2
|
378 |
540 |
2.4e-63 |
PFAM |
|
Pfam:FANCI_HD2
|
554 |
785 |
4.8e-87 |
PFAM |
|
Pfam:FANCI_S3
|
803 |
1028 |
1.7e-83 |
PFAM |
|
Pfam:FANCI_S4
|
1041 |
1295 |
1.3e-95 |
PFAM |
|
low complexity region
|
1299 |
1307 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073889
AA Change: P1048S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073551
Gene: ENSMUSG00000039176
AA Change: P1048S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
131 |
149 |
N/A |
INTRINSIC |
|
low complexity region
|
478 |
493 |
N/A |
INTRINSIC |
|
POLAc
|
849 |
1123 |
2.23e-107 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127082
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127734
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132048
|
| SMART Domains |
Protein: ENSMUSP00000143933
Gene: ENSMUSG00000039176
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
37 |
N/A |
INTRINSIC |
|
PDB:3IKM|D
|
53 |
203 |
2e-71 |
PDB |
|
SCOP:d1qm9a1
|
76 |
122 |
3e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132091
|
| SMART Domains |
Protein: ENSMUSP00000122113
Gene: ENSMUSG00000039187
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FANCI_S1-cap
|
1 |
53 |
1.6e-29 |
PFAM |
|
Pfam:FANCI_S1
|
60 |
281 |
3.2e-81 |
PFAM |
|
Pfam:FANCI_HD1
|
284 |
371 |
2.9e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139290
|
| SMART Domains |
Protein: ENSMUSP00000144035
Gene: ENSMUSG00000039176
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3IKM|D
|
1 |
69 |
2e-41 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139597
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139668
|
| SMART Domains |
Protein: ENSMUSP00000114414
Gene: ENSMUSG00000039176
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
12 |
N/A |
INTRINSIC |
|
PDB:3IKM|D
|
13 |
236 |
1e-125 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139795
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143672
|
| SMART Domains |
Protein: ENSMUSP00000122286
Gene: ENSMUSG00000039176
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3IKM|D
|
2 |
243 |
1e-117 |
PDB |
|
SCOP:d1t7pa2
|
141 |
243 |
1e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145154
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149444
|
| SMART Domains |
Protein: ENSMUSP00000119616
Gene: ENSMUSG00000039176
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
37 |
N/A |
INTRINSIC |
|
PDB:3IKM|D
|
53 |
490 |
N/A |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154403
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000201030
AA Change: P83S
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201662
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201907
|
| SMART Domains |
Protein: ENSMUSP00000144084
Gene: ENSMUSG00000039176
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:POLAc
|
1 |
49 |
4e-24 |
BLAST |
|
PDB:3IKM|D
|
1 |
50 |
6e-24 |
PDB |
|
SCOP:d1t7pa2
|
21 |
49 |
3e-5 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. The encoded protein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous proof-reading deficient mutants display reduced life spans and premature aging with weight loss, decreased subcutaneous fat, alopecia, kyphosis, osteoporosis, anemia, reduced fertility, and enlarged hearts. Homozygous null mice display embryonic lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810474O19Rik |
T |
C |
6: 149,334,750 |
|
probably benign |
Het |
| Anpep |
A |
C |
7: 79,840,890 |
S293A |
probably benign |
Het |
| Dgkh |
T |
A |
14: 78,587,261 |
|
probably benign |
Het |
| Dlg5 |
T |
A |
14: 24,165,285 |
T657S |
probably damaging |
Het |
| Hpf1 |
A |
G |
8: 60,896,802 |
I155V |
probably benign |
Het |
| Il12rb2 |
T |
C |
6: 67,303,562 |
I554V |
possibly damaging |
Het |
| Mindy2 |
A |
G |
9: 70,634,003 |
|
probably null |
Het |
| Nostrin |
A |
G |
2: 69,175,775 |
T268A |
probably benign |
Het |
| Npy6r |
A |
G |
18: 44,276,318 |
T269A |
probably benign |
Het |
| Nt5dc3 |
T |
A |
10: 86,820,273 |
|
probably benign |
Het |
| Osgin2 |
G |
A |
4: 16,006,377 |
H106Y |
probably damaging |
Het |
| Pdlim3 |
G |
A |
8: 45,896,790 |
G46R |
probably damaging |
Het |
| Pdpk1 |
T |
G |
17: 24,106,861 |
K147N |
possibly damaging |
Het |
| Pfkfb3 |
T |
C |
2: 11,488,754 |
D137G |
probably damaging |
Het |
| Ptcd3 |
A |
T |
6: 71,903,448 |
I97K |
probably damaging |
Het |
| Serpinb10 |
G |
T |
1: 107,536,077 |
V30F |
possibly damaging |
Het |
| Stk17b |
A |
G |
1: 53,764,023 |
|
probably benign |
Het |
| Tll1 |
G |
A |
8: 64,071,321 |
R444C |
probably damaging |
Het |
| Ttbk2 |
A |
G |
2: 120,745,745 |
V848A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,885,673 |
|
probably benign |
Het |
|
| Other mutations in Polg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00970:Polg
|
APN |
7 |
79451745 |
missense |
probably benign |
0.01 |
|
IGL01883:Polg
|
APN |
7 |
79458318 |
missense |
probably damaging |
1.00 |
|
IGL02124:Polg
|
APN |
7 |
79459737 |
missense |
probably damaging |
1.00 |
|
IGL02127:Polg
|
APN |
7 |
79458167 |
unclassified |
probably benign |
|
|
IGL02820:Polg
|
APN |
7 |
79459771 |
missense |
possibly damaging |
0.92 |
|
IGL03075:Polg
|
APN |
7 |
79451912 |
missense |
probably damaging |
1.00 |
|
IGL03180:Polg
|
APN |
7 |
79451853 |
splice site |
probably benign |
|
|
IGL03198:Polg
|
APN |
7 |
79451722 |
missense |
probably damaging |
1.00 |
|
IGL03222:Polg
|
APN |
7 |
79454656 |
missense |
probably damaging |
0.98 |
|
R0030:Polg
|
UTSW |
7 |
79452128 |
missense |
probably damaging |
1.00 |
|
R0064:Polg
|
UTSW |
7 |
79461884 |
missense |
probably damaging |
1.00 |
|
R0064:Polg
|
UTSW |
7 |
79461884 |
missense |
probably damaging |
1.00 |
|
R0416:Polg
|
UTSW |
7 |
79452240 |
unclassified |
probably benign |
|
|
R0522:Polg
|
UTSW |
7 |
79460151 |
splice site |
probably benign |
|
|
R0638:Polg
|
UTSW |
7 |
79460148 |
splice site |
probably benign |
|
|
R1263:Polg
|
UTSW |
7 |
79459786 |
missense |
probably benign |
|
|
R1831:Polg
|
UTSW |
7 |
79459770 |
missense |
probably benign |
0.41 |
|
R1873:Polg
|
UTSW |
7 |
79456493 |
missense |
probably benign |
0.04 |
|
R1906:Polg
|
UTSW |
7 |
79460322 |
missense |
probably damaging |
1.00 |
|
R1997:Polg
|
UTSW |
7 |
79459231 |
missense |
probably damaging |
1.00 |
|
R2127:Polg
|
UTSW |
7 |
79464928 |
missense |
probably damaging |
1.00 |
|
R2155:Polg
|
UTSW |
7 |
79461720 |
missense |
possibly damaging |
0.94 |
|
R2156:Polg
|
UTSW |
7 |
79461720 |
missense |
possibly damaging |
0.94 |
|
R2173:Polg
|
UTSW |
7 |
79455593 |
missense |
probably damaging |
0.99 |
|
R3720:Polg
|
UTSW |
7 |
79456791 |
nonsense |
probably null |
|
|
R4082:Polg
|
UTSW |
7 |
79464828 |
missense |
probably damaging |
1.00 |
|
R4127:Polg
|
UTSW |
7 |
79455537 |
missense |
probably damaging |
1.00 |
|
R4510:Polg
|
UTSW |
7 |
79455522 |
missense |
probably benign |
0.01 |
|
R4511:Polg
|
UTSW |
7 |
79455522 |
missense |
probably benign |
0.01 |
|
R4571:Polg
|
UTSW |
7 |
79460379 |
missense |
probably damaging |
1.00 |
|
R4888:Polg
|
UTSW |
7 |
79464605 |
missense |
probably damaging |
1.00 |
|
R5008:Polg
|
UTSW |
7 |
79460074 |
missense |
probably damaging |
1.00 |
|
R5095:Polg
|
UTSW |
7 |
79460300 |
missense |
possibly damaging |
0.92 |
|
R5121:Polg
|
UTSW |
7 |
79464605 |
missense |
probably damaging |
1.00 |
|
R5139:Polg
|
UTSW |
7 |
79450025 |
missense |
probably damaging |
1.00 |
|
R5213:Polg
|
UTSW |
7 |
79454098 |
missense |
probably damaging |
1.00 |
|
R5285:Polg
|
UTSW |
7 |
79465225 |
utr 5 prime |
probably benign |
|
|
R5498:Polg
|
UTSW |
7 |
79454670 |
missense |
probably damaging |
1.00 |
|
R5714:Polg
|
UTSW |
7 |
79451991 |
missense |
possibly damaging |
0.53 |
|
R5940:Polg
|
UTSW |
7 |
79454071 |
missense |
possibly damaging |
0.95 |
|
R6146:Polg
|
UTSW |
7 |
79450512 |
missense |
probably benign |
0.02 |
|
R6754:Polg
|
UTSW |
7 |
79459836 |
missense |
probably damaging |
1.00 |
|
R6791:Polg
|
UTSW |
7 |
79460109 |
missense |
probably benign |
0.25 |
|
R6829:Polg
|
UTSW |
7 |
79460109 |
missense |
probably benign |
0.25 |
|
R6913:Polg
|
UTSW |
7 |
79460657 |
missense |
probably damaging |
0.97 |
|
R7644:Polg
|
UTSW |
7 |
79451668 |
missense |
probably damaging |
1.00 |
|
R7879:Polg
|
UTSW |
7 |
79450644 |
missense |
probably benign |
0.22 |
|
R8174:Polg
|
UTSW |
7 |
79456718 |
missense |
probably benign |
0.10 |
|
R8443:Polg
|
UTSW |
7 |
79464995 |
missense |
probably benign |
|
|
R9176:Polg
|
UTSW |
7 |
79460109 |
missense |
probably benign |
0.25 |
|
R9181:Polg
|
UTSW |
7 |
79454673 |
missense |
probably damaging |
1.00 |
|
R9303:Polg
|
UTSW |
7 |
79456112 |
missense |
probably benign |
0.02 |
|
R9305:Polg
|
UTSW |
7 |
79456112 |
missense |
probably benign |
0.02 |
|
R9323:Polg
|
UTSW |
7 |
79465031 |
frame shift |
probably null |
|
|
R9323:Polg
|
UTSW |
7 |
79465038 |
frame shift |
probably null |
|
|
R9331:Polg
|
UTSW |
7 |
79458400 |
missense |
probably damaging |
1.00 |
|
Z1176:Polg
|
UTSW |
7 |
79453741 |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation