Incidental Mutation 'R0030:Polg'
ID 64521
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 038324-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0030 (G1)
Quality Score 115
Status Not validated
Chromosome 7
Chromosomal Location 79095979-79116110 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 79101876 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 1006 (I1006N)
Ref Sequence ENSEMBL: ENSMUSP00000073551 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036865] [ENSMUST00000073889] [ENSMUST00000132048] [ENSMUST00000132091] [ENSMUST00000149444] [ENSMUST00000139290] [ENSMUST00000201907]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000036865
SMART Domains Protein: ENSMUSP00000044931
Gene: ENSMUSG00000039187

DomainStartEndE-ValueType
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: I1006N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000073551
Gene: ENSMUSG00000039176
AA Change: I1006N

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 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 probably benign
Transcript: ENSMUST00000132091
SMART Domains Protein: ENSMUSP00000122113
Gene: ENSMUSG00000039187

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000201030
AA Change: I41N
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145154
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139597
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154403
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139795
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 probably benign
Transcript: ENSMUST00000139290
SMART Domains Protein: ENSMUSP00000144035
Gene: ENSMUSG00000039176

DomainStartEndE-ValueType
PDB:3IKM|D 1 69 2e-41 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
Predicted Effect probably benign
Transcript: ENSMUST00000201662
Predicted Effect probably benign
Transcript: ENSMUST00000201907
SMART Domains Protein: ENSMUSP00000144084
Gene: ENSMUSG00000039176

DomainStartEndE-ValueType
Blast:POLAc 1 49 4e-24 BLAST
PDB:3IKM|D 1 50 6e-24 PDB
SCOP:d1t7pa2 21 49 3e-5 SMART
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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.6%
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap1 T A 1: 89,816,466 (GRCm39) Y755* probably null Het
Ahctf1 G A 1: 179,580,001 (GRCm39) T2067M probably damaging Het
Ank1 C A 8: 23,583,909 (GRCm39) D337E probably damaging Het
Ankrd65 A C 4: 155,875,942 (GRCm39) R72S probably damaging Het
Cacna1s T C 1: 136,022,727 (GRCm39) probably null Het
Cyp4f40 T C 17: 32,894,947 (GRCm39) S462P probably damaging Het
Dxo A G 17: 35,056,914 (GRCm39) R132G probably damaging Het
Eps15l1 A G 8: 73,126,894 (GRCm39) S646P probably benign Het
Foxi2 A G 7: 135,013,345 (GRCm39) T192A probably damaging Het
Fry T A 5: 150,296,034 (GRCm39) C480* probably null Het
Gak C T 5: 108,761,413 (GRCm39) W206* probably null Het
Ggt7 G T 2: 155,348,408 (GRCm39) D5E probably benign Het
Hectd4 G T 5: 121,400,651 (GRCm39) G339* probably null Het
Ikzf3 T C 11: 98,358,438 (GRCm39) T300A probably benign Het
Med12l T G 3: 59,156,076 (GRCm39) L1198R probably damaging Het
Odf4 T A 11: 68,817,767 (GRCm39) E9D probably benign Het
Or2t26 T A 11: 49,039,867 (GRCm39) M261K possibly damaging Het
Pax1 C A 2: 147,210,502 (GRCm39) F412L probably damaging Het
Ppp4c A G 7: 126,387,605 (GRCm39) V51A possibly damaging Het
Scn10a G C 9: 119,499,056 (GRCm39) T304R probably benign Het
Scp2 T A 4: 107,964,887 (GRCm39) probably null Het
Ubr4 G T 4: 139,154,104 (GRCm39) V2104L probably damaging 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
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
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'- TCGTCGTGGATGCTGATGCAGAAG -3'
(R):5'- TTCCTAGTTGCCATCCCCAGTGAG -3'

Sequencing Primer
(F):5'- GGTGTATCAGACATGGCAATACTC -3'
(R):5'- CATCCCCAGTGAGTCTGTG -3'
Posted On 2013-08-06