Incidental Mutation 'R0522:Polg'
ID 48635
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 038715-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0522 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 79095979-79116110 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 79109899 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 benign
Transcript: ENSMUST00000073889
SMART Domains Protein: ENSMUSP00000073551
Gene: ENSMUSG00000039176

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000125562
SMART Domains Protein: ENSMUSP00000143813
Gene: ENSMUSG00000039176

DomainStartEndE-ValueType
low complexity region 26 37 N/A INTRINSIC
PDB:3IKM|D 53 106 8e-25 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127082
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127734
Predicted Effect probably benign
Transcript: ENSMUST00000132048
SMART Domains Protein: ENSMUSP00000143933
Gene: ENSMUSG00000039176

DomainStartEndE-ValueType
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: ENSMUST00000139597
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142915
Predicted Effect probably benign
Transcript: ENSMUST00000149444
SMART Domains Protein: ENSMUSP00000119616
Gene: ENSMUSG00000039176

DomainStartEndE-ValueType
low complexity region 26 37 N/A INTRINSIC
PDB:3IKM|D 53 490 N/A PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201557
Predicted Effect probably benign
Transcript: ENSMUST00000139668
SMART Domains Protein: ENSMUSP00000114414
Gene: ENSMUSG00000039176

DomainStartEndE-ValueType
low complexity region 1 12 N/A INTRINSIC
PDB:3IKM|D 13 236 1e-125 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000143672
SMART Domains Protein: ENSMUSP00000122286
Gene: ENSMUSG00000039176

DomainStartEndE-ValueType
PDB:3IKM|D 2 243 1e-117 PDB
SCOP:d1t7pa2 141 243 1e-10 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 90.8%
Validation Efficiency 100% (67/67)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 A G 8: 84,456,805 (GRCm39) I192T probably benign Het
Adgrl3 T C 5: 81,874,648 (GRCm39) Y982H possibly damaging Het
Adgrv1 T A 13: 81,676,561 (GRCm39) probably benign Het
Alms1 T C 6: 85,598,597 (GRCm39) V1610A probably benign Het
Ankrd24 T C 10: 81,472,189 (GRCm39) probably benign Het
C2cd3 A G 7: 100,044,429 (GRCm39) N337S probably benign Het
Cdc40 T C 10: 40,733,608 (GRCm39) Y114C probably benign Het
Cdhr1 A T 14: 36,815,957 (GRCm39) probably null Het
Cfc1 G A 1: 34,576,234 (GRCm39) C98Y probably damaging Het
Cyp11b2 A T 15: 74,723,533 (GRCm39) probably benign Het
Cyth4 C A 15: 78,499,985 (GRCm39) H255Q possibly damaging Het
Degs1l A C 1: 180,887,312 (GRCm39) D299A probably damaging Het
Dip2a T C 10: 76,157,365 (GRCm39) K80R probably benign Het
Dnajb5 G T 4: 42,957,083 (GRCm39) D257Y probably damaging Het
Dynll1 T C 5: 115,438,565 (GRCm39) probably benign Het
Edn1 T A 13: 42,458,430 (GRCm39) V81E probably damaging Het
F5 T C 1: 164,039,332 (GRCm39) S1981P probably damaging Het
Fam186b T A 15: 99,178,400 (GRCm39) M309L probably benign Het
Gm14221 G A 2: 160,416,597 (GRCm39) noncoding transcript Het
Gnptab T A 10: 88,267,328 (GRCm39) probably benign Het
Golgb1 AAGAGAGAGAGAGAGA AAGAGAGAGAGAGA 16: 36,735,567 (GRCm39) probably null Het
Gpr176 A G 2: 118,114,493 (GRCm39) C106R probably damaging Het
Hdac7 A T 15: 97,704,560 (GRCm39) probably null Het
Hlx T C 1: 184,463,837 (GRCm39) S168G probably damaging Het
Hnf1a G T 5: 115,088,747 (GRCm39) probably benign Het
Hp1bp3 C T 4: 137,949,472 (GRCm39) L19F possibly damaging Het
Hspa14 T A 2: 3,512,086 (GRCm39) T63S probably damaging Het
Insrr C T 3: 87,708,179 (GRCm39) S207F probably damaging Het
Jak3 C A 8: 72,134,918 (GRCm39) probably benign Het
Jmjd7 G A 2: 119,860,822 (GRCm39) A91T probably damaging Het
Lgals9 G T 11: 78,856,638 (GRCm39) H265Q possibly damaging Het
Lrriq1 T G 10: 102,997,638 (GRCm39) N1326H probably damaging Het
Mdn1 C A 4: 32,672,837 (GRCm39) Q486K probably benign Het
Mpeg1 A G 19: 12,439,123 (GRCm39) T194A probably damaging Het
Nek5 T A 8: 22,578,813 (GRCm39) probably benign Het
Pcgf2 A C 11: 97,582,873 (GRCm39) I135M probably benign Het
Phactr1 G T 13: 43,213,067 (GRCm39) A222S probably benign Het
Pla2r1 T C 2: 60,309,859 (GRCm39) S575G probably benign Het
Plcg2 T C 8: 118,341,027 (GRCm39) probably null Het
Pold3 A G 7: 99,770,590 (GRCm39) V14A probably damaging Het
Poteg T G 8: 27,939,986 (GRCm39) L48V possibly damaging Het
Prmt1 A T 7: 44,631,203 (GRCm39) C50S probably benign Het
Prx T A 7: 27,217,620 (GRCm39) V707E probably damaging Het
Rrp12 C T 19: 41,863,144 (GRCm39) probably benign Het
Saxo1 A T 4: 86,363,340 (GRCm39) V381E probably damaging Het
Sh2d2a T C 3: 87,754,416 (GRCm39) probably null Het
Slc26a5 A C 5: 22,051,343 (GRCm39) I57R probably damaging Het
Slc38a3 T A 9: 107,532,412 (GRCm39) probably null Het
Slc5a4b T C 10: 75,926,534 (GRCm39) T188A probably damaging Het
Slc7a13 A G 4: 19,824,010 (GRCm39) I260V probably benign Het
Smg8 A T 11: 86,977,288 (GRCm39) S98T probably benign Het
Spart T A 3: 55,035,786 (GRCm39) S548R probably damaging Het
Sult6b1 C T 17: 79,212,958 (GRCm39) G98S probably damaging Het
Tbc1d2 A G 4: 46,649,806 (GRCm39) Y77H probably damaging Het
Tet2 T A 3: 133,172,565 (GRCm39) D1899V probably damaging Het
Tmcc1 C CAT 6: 116,019,831 (GRCm39) probably null Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Trp53bp1 C A 2: 121,082,349 (GRCm39) A317S probably null Het
Uap1l1 T C 2: 25,253,289 (GRCm39) E382G probably damaging Het
Ugt1a10 C T 1: 88,145,971 (GRCm39) P473L probably damaging Het
Ugt1a9 T C 1: 87,999,114 (GRCm39) V188A probably damaging Het
Virma T C 4: 11,519,416 (GRCm39) probably null Het
Xrcc6 T C 15: 81,906,793 (GRCm39) probably benign Het
Zfp719 A G 7: 43,238,677 (GRCm39) probably null Het
Zfp804b T A 5: 6,822,014 (GRCm39) T350S probably benign Het
Zfp959 G T 17: 56,203,201 (GRCm39) R61M probably null Het
Other mutations in Polg
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R2127:Polg UTSW 7 79,114,676 (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'- GCTGCCATAAATGACCACAGGAGAC -3'
(R):5'- CACTTGAGACCAAGCTGACTTCCC -3'

Sequencing Primer
(F):5'- TCTCTCAGCCTACAAAAGCTAAGTG -3'
(R):5'- CTGGATGGATATCAGCAGTGCC -3'
Posted On 2013-06-12