Incidental Mutation 'R2127:Polg'
| ID |
227621 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Polg
|
| Ensembl Gene |
ENSMUSG00000039176 |
| Gene Name |
polymerase (DNA directed), gamma |
| Synonyms |
Polga, Pol gamma, mitochondrial DNA polymerase gamma, mitochondrial DNA polymerase-gamma, polymerase gamma |
| MMRRC Submission |
040130-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2127 (G1)
|
| Quality Score |
170 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
79095979-79116110 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79114676 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 95
(L95P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119616
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073889]
[ENSMUST00000125562]
[ENSMUST00000132048]
[ENSMUST00000149444]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073889
AA Change: L95P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073551
Gene: ENSMUSG00000039176
AA Change: L95P
| 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 |
probably damaging
Transcript: ENSMUST00000125562
AA Change: L95P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143813
Gene: ENSMUSG00000039176
AA Change: L95P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
37 |
N/A |
INTRINSIC |
|
PDB:3IKM|D
|
53 |
106 |
8e-25 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127082
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000132048
AA Change: L95P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000143933
Gene: ENSMUSG00000039176
AA Change: L95P
| 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 |
noncoding transcript
Transcript: ENSMUST00000142915
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000149444
AA Change: L95P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119616
Gene: ENSMUSG00000039176
AA Change: L95P
| 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: ENSMUST00000201557
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205285
|
| Meta Mutation Damage Score |
0.9589 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (93/95) |
| 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: 93 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449I24Rik |
T |
A |
5: 146,441,752 (GRCm39) |
S300T |
possibly damaging |
Het |
| A2ml1 |
A |
C |
6: 128,535,400 (GRCm39) |
V770G |
probably damaging |
Het |
| Abca6 |
A |
G |
11: 110,110,475 (GRCm39) |
I558T |
probably benign |
Het |
| Abhd17c |
C |
A |
7: 83,759,870 (GRCm39) |
G295W |
probably damaging |
Het |
| Actn3 |
G |
A |
19: 4,921,703 (GRCm39) |
A159V |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,705,199 (GRCm39) |
F1537Y |
probably damaging |
Het |
| Agbl1 |
G |
T |
7: 76,069,628 (GRCm39) |
V373F |
possibly damaging |
Het |
| Aldh1a1 |
A |
T |
19: 20,620,279 (GRCm39) |
E485D |
probably benign |
Het |
| Amdhd2 |
A |
G |
17: 24,377,282 (GRCm39) |
|
probably null |
Het |
| Armc3 |
A |
G |
2: 19,206,622 (GRCm39) |
D15G |
probably damaging |
Het |
| Atp2b2 |
A |
G |
6: 113,737,611 (GRCm39) |
L921P |
probably damaging |
Het |
| Btbd16 |
A |
G |
7: 130,386,038 (GRCm39) |
N88S |
probably benign |
Het |
| Capn10 |
T |
A |
1: 92,865,756 (GRCm39) |
C77* |
probably null |
Het |
| Caskin1 |
T |
C |
17: 24,715,970 (GRCm39) |
|
probably null |
Het |
| Catsper4 |
T |
C |
4: 133,941,117 (GRCm39) |
D254G |
probably benign |
Het |
| Catsperg1 |
T |
C |
7: 28,884,465 (GRCm39) |
D958G |
probably damaging |
Het |
| Ccar2 |
T |
G |
14: 70,377,100 (GRCm39) |
K787Q |
probably benign |
Het |
| Ccdc191 |
C |
T |
16: 43,728,998 (GRCm39) |
T244I |
probably benign |
Het |
| Cd33 |
A |
T |
7: 43,179,699 (GRCm39) |
L243Q |
possibly damaging |
Het |
| Cdc37 |
T |
C |
9: 21,061,143 (GRCm39) |
Y4C |
probably damaging |
Het |
| Cenpe |
T |
G |
3: 134,945,541 (GRCm39) |
N1018K |
probably benign |
Het |
| Crocc |
G |
A |
4: 140,744,407 (GRCm39) |
R1830C |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 15,967,392 (GRCm39) |
D3157G |
probably damaging |
Het |
| Dhx57 |
C |
T |
17: 80,580,477 (GRCm39) |
V492M |
probably damaging |
Het |
| Dnah2 |
A |
T |
11: 69,349,011 (GRCm39) |
I2486N |
probably benign |
Het |
| Dnhd1 |
C |
T |
7: 105,342,928 (GRCm39) |
T1424I |
possibly damaging |
Het |
| Dsc3 |
C |
T |
18: 20,101,411 (GRCm39) |
A661T |
probably benign |
Het |
| F930015N05Rik |
A |
G |
11: 64,326,229 (GRCm39) |
|
probably benign |
Het |
| Fbxo34 |
C |
A |
14: 47,767,563 (GRCm39) |
R308S |
probably damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
| Gm11595 |
A |
T |
11: 99,663,327 (GRCm39) |
C118S |
unknown |
Het |
| Gm9742 |
A |
T |
13: 8,085,011 (GRCm39) |
|
noncoding transcript |
Het |
| Gmeb2 |
G |
A |
2: 180,900,842 (GRCm39) |
A185V |
probably benign |
Het |
| Gpr15 |
A |
G |
16: 58,538,618 (GRCm39) |
V157A |
possibly damaging |
Het |
| Gpr3 |
C |
T |
4: 132,937,932 (GRCm39) |
A247T |
probably damaging |
Het |
| Grin2b |
A |
C |
6: 135,755,698 (GRCm39) |
S539A |
probably benign |
Het |
| Hmbs |
T |
C |
9: 44,252,004 (GRCm39) |
T92A |
probably benign |
Het |
| Inpp4a |
A |
G |
1: 37,406,000 (GRCm39) |
M173V |
probably benign |
Het |
| Irx4 |
T |
A |
13: 73,413,595 (GRCm39) |
S22T |
probably benign |
Het |
| Jph3 |
C |
T |
8: 122,511,881 (GRCm39) |
A623V |
probably benign |
Het |
| Kif1b |
G |
A |
4: 149,272,097 (GRCm39) |
S1568L |
possibly damaging |
Het |
| Ksr1 |
G |
A |
11: 78,924,139 (GRCm39) |
S361L |
probably damaging |
Het |
| Lyst |
T |
G |
13: 13,809,847 (GRCm39) |
Y506D |
probably damaging |
Het |
| Mctp1 |
A |
G |
13: 76,972,941 (GRCm39) |
D648G |
probably damaging |
Het |
| Megf8 |
T |
C |
7: 25,064,007 (GRCm39) |
S2788P |
possibly damaging |
Het |
| Mfsd2b |
T |
A |
12: 4,917,659 (GRCm39) |
Y129F |
probably benign |
Het |
| Mindy4 |
T |
C |
6: 55,195,250 (GRCm39) |
S155P |
probably benign |
Het |
| Mospd4 |
A |
G |
18: 46,598,731 (GRCm39) |
|
noncoding transcript |
Het |
| Myo18b |
A |
T |
5: 112,978,944 (GRCm39) |
L1223Q |
probably damaging |
Het |
| Nckipsd |
A |
G |
9: 108,688,932 (GRCm39) |
T156A |
probably benign |
Het |
| Ndst1 |
G |
A |
18: 60,824,280 (GRCm39) |
T799I |
probably benign |
Het |
| Npffr2 |
A |
T |
5: 89,715,924 (GRCm39) |
I84F |
probably damaging |
Het |
| Nphp3 |
G |
A |
9: 103,885,442 (GRCm39) |
V167M |
probably damaging |
Het |
| Nup107 |
C |
A |
10: 117,610,380 (GRCm39) |
R354L |
possibly damaging |
Het |
| Olfml2a |
T |
C |
2: 38,831,699 (GRCm39) |
C93R |
probably damaging |
Het |
| Or12e10 |
A |
G |
2: 87,640,685 (GRCm39) |
I174V |
probably benign |
Het |
| Or1e25 |
C |
G |
11: 73,493,631 (GRCm39) |
S75C |
possibly damaging |
Het |
| Or5l14 |
A |
T |
2: 87,793,176 (GRCm39) |
V20D |
probably benign |
Het |
| Pappa |
T |
A |
4: 65,215,494 (GRCm39) |
L1134M |
probably damaging |
Het |
| Plscr4 |
T |
G |
9: 92,370,683 (GRCm39) |
F217V |
possibly damaging |
Het |
| Pnpla8 |
T |
A |
12: 44,354,840 (GRCm39) |
Y667N |
probably benign |
Het |
| Psg20 |
T |
G |
7: 18,416,643 (GRCm39) |
I158L |
probably damaging |
Het |
| Pwwp2a |
A |
G |
11: 43,596,145 (GRCm39) |
S437G |
probably benign |
Het |
| Rdx |
A |
G |
9: 51,981,032 (GRCm39) |
M305V |
possibly damaging |
Het |
| Rinl |
A |
G |
7: 28,496,168 (GRCm39) |
E383G |
probably damaging |
Het |
| Ror1 |
A |
G |
4: 100,299,290 (GRCm39) |
M888V |
probably benign |
Het |
| Rps12 |
A |
T |
10: 23,662,776 (GRCm39) |
I22K |
possibly damaging |
Het |
| Rtca |
C |
A |
3: 116,291,323 (GRCm39) |
R219L |
possibly damaging |
Het |
| Ryr2 |
G |
A |
13: 11,727,081 (GRCm39) |
P2427S |
probably damaging |
Het |
| Slc10a6 |
A |
G |
5: 103,756,922 (GRCm39) |
Y281H |
probably benign |
Het |
| Slc39a11 |
A |
G |
11: 113,260,629 (GRCm39) |
S176P |
probably benign |
Het |
| Slfn10-ps |
A |
G |
11: 82,921,168 (GRCm39) |
|
noncoding transcript |
Het |
| Spef2 |
T |
C |
15: 9,729,747 (GRCm39) |
T124A |
possibly damaging |
Het |
| Sult2a4 |
G |
T |
7: 13,649,185 (GRCm39) |
P207Q |
probably damaging |
Het |
| Tas1r3 |
G |
A |
4: 155,944,927 (GRCm39) |
R765C |
probably damaging |
Het |
| Tcstv1a |
T |
C |
13: 120,355,282 (GRCm39) |
T117A |
probably damaging |
Het |
| Tha1 |
A |
G |
11: 117,760,600 (GRCm39) |
V208A |
probably damaging |
Het |
| Tmbim4 |
T |
A |
10: 120,060,658 (GRCm39) |
I215N |
probably damaging |
Het |
| Tmem202 |
T |
A |
9: 59,427,483 (GRCm39) |
I122F |
probably benign |
Het |
| Tomm70a |
T |
C |
16: 56,942,234 (GRCm39) |
S4P |
unknown |
Het |
| Tpcn2 |
A |
G |
7: 144,827,712 (GRCm39) |
|
probably benign |
Het |
| Trim36 |
A |
T |
18: 46,345,404 (GRCm39) |
F10I |
probably benign |
Het |
| Usp30 |
A |
G |
5: 114,249,224 (GRCm39) |
E176G |
probably damaging |
Het |
| Usp8 |
T |
G |
2: 126,579,495 (GRCm39) |
|
probably null |
Het |
| Vmn1r32 |
T |
A |
6: 66,530,533 (GRCm39) |
Y81F |
probably benign |
Het |
| Vps36 |
G |
T |
8: 22,708,305 (GRCm39) |
|
probably null |
Het |
| Wdr87-ps |
T |
C |
7: 29,236,565 (GRCm39) |
|
noncoding transcript |
Het |
| Wnt3 |
A |
G |
11: 103,703,474 (GRCm39) |
H319R |
possibly damaging |
Het |
| Zfp319 |
A |
T |
8: 96,050,391 (GRCm39) |
|
probably benign |
Het |
| Zfp408 |
T |
C |
2: 91,475,519 (GRCm39) |
E545G |
probably damaging |
Het |
| Zfp799 |
C |
T |
17: 33,038,472 (GRCm39) |
R598Q |
possibly damaging |
Het |
| Zfp831 |
T |
C |
2: 174,489,917 (GRCm39) |
V1228A |
probably benign |
Het |
| Zfp938 |
T |
C |
10: 82,061,876 (GRCm39) |
D248G |
probably benign |
Het |
|
| Other mutations in Polg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00767:Polg
|
APN |
7 |
79,101,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00970:Polg
|
APN |
7 |
79,101,493 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01883:Polg
|
APN |
7 |
79,108,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02124:Polg
|
APN |
7 |
79,109,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02127:Polg
|
APN |
7 |
79,107,915 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02820:Polg
|
APN |
7 |
79,109,519 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03075:Polg
|
APN |
7 |
79,101,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03180:Polg
|
APN |
7 |
79,101,601 (GRCm39) |
splice site |
probably benign |
|
|
IGL03198:Polg
|
APN |
7 |
79,101,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03222:Polg
|
APN |
7 |
79,104,404 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0030:Polg
|
UTSW |
7 |
79,101,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0064:Polg
|
UTSW |
7 |
79,111,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0064:Polg
|
UTSW |
7 |
79,111,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0416:Polg
|
UTSW |
7 |
79,101,988 (GRCm39) |
unclassified |
probably benign |
|
|
R0522:Polg
|
UTSW |
7 |
79,109,899 (GRCm39) |
splice site |
probably benign |
|
|
R0638:Polg
|
UTSW |
7 |
79,109,896 (GRCm39) |
splice site |
probably benign |
|
|
R1263:Polg
|
UTSW |
7 |
79,109,534 (GRCm39) |
missense |
probably benign |
|
|
R1831:Polg
|
UTSW |
7 |
79,109,518 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1873:Polg
|
UTSW |
7 |
79,106,241 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1906:Polg
|
UTSW |
7 |
79,110,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1997:Polg
|
UTSW |
7 |
79,108,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2155:Polg
|
UTSW |
7 |
79,111,468 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2156:Polg
|
UTSW |
7 |
79,111,468 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2173:Polg
|
UTSW |
7 |
79,105,341 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3720:Polg
|
UTSW |
7 |
79,106,539 (GRCm39) |
nonsense |
probably null |
|
|
R4082:Polg
|
UTSW |
7 |
79,114,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4127:Polg
|
UTSW |
7 |
79,105,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4510:Polg
|
UTSW |
7 |
79,105,270 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4511:Polg
|
UTSW |
7 |
79,105,270 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4571:Polg
|
UTSW |
7 |
79,110,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4888:Polg
|
UTSW |
7 |
79,114,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5008:Polg
|
UTSW |
7 |
79,109,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5095:Polg
|
UTSW |
7 |
79,110,048 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5121:Polg
|
UTSW |
7 |
79,114,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5139:Polg
|
UTSW |
7 |
79,099,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5213:Polg
|
UTSW |
7 |
79,103,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5285:Polg
|
UTSW |
7 |
79,114,973 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5498:Polg
|
UTSW |
7 |
79,104,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5714:Polg
|
UTSW |
7 |
79,101,739 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5940:Polg
|
UTSW |
7 |
79,103,819 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6146:Polg
|
UTSW |
7 |
79,100,260 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6754:Polg
|
UTSW |
7 |
79,109,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6791:Polg
|
UTSW |
7 |
79,109,857 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6829:Polg
|
UTSW |
7 |
79,109,857 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6913:Polg
|
UTSW |
7 |
79,110,405 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7644:Polg
|
UTSW |
7 |
79,101,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7879:Polg
|
UTSW |
7 |
79,100,392 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8174:Polg
|
UTSW |
7 |
79,106,466 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8443:Polg
|
UTSW |
7 |
79,114,743 (GRCm39) |
missense |
probably benign |
|
|
R9176:Polg
|
UTSW |
7 |
79,109,857 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9181:Polg
|
UTSW |
7 |
79,104,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9303:Polg
|
UTSW |
7 |
79,105,860 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9305:Polg
|
UTSW |
7 |
79,105,860 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9323:Polg
|
UTSW |
7 |
79,114,786 (GRCm39) |
frame shift |
probably null |
|
|
R9323:Polg
|
UTSW |
7 |
79,114,779 (GRCm39) |
frame shift |
probably null |
|
|
R9331:Polg
|
UTSW |
7 |
79,108,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Polg
|
UTSW |
7 |
79,103,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAGTCCCCTGTTGCTAACC -3'
(R):5'- CTAAAAGCAGTCAAGCTGGAGC -3'
Sequencing Primer
(F):5'- AAAGTGGGGCAGGTTCCCTC -3'
(R):5'- GTCAAGCTGGAGCCCAAAGC -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation