Incidental Mutation 'IGL03198:Polg'
ID 412900
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03198
Quality Score
Status
Chromosome 7
Chromosomal Location 79095979-79116110 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79101470 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1079 (V1079A)
Ref Sequence ENSEMBL: ENSMUSP00000073551 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036865] [ENSMUST00000073889] [ENSMUST00000132048] [ENSMUST00000132091] [ENSMUST00000149444] [ENSMUST00000201907] [ENSMUST00000139290]
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: V1079A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073551
Gene: ENSMUSG00000039176
AA Change: V1079A

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 probably benign
Transcript: ENSMUST00000201030
AA Change: V114A

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139597
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139795
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145154
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154403
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: 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: 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: ENSMUST00000139290
SMART Domains Protein: ENSMUSP00000144035
Gene: ENSMUSG00000039176

DomainStartEndE-ValueType
PDB:3IKM|D 1 69 2e-41 PDB
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: ENSMUST00000201662
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adhfe1 A T 1: 9,620,177 (GRCm39) probably benign Het
Atp6v0a2 T C 5: 124,789,425 (GRCm39) probably null Het
Brca1 G T 11: 101,403,537 (GRCm39) probably benign Het
Cd55 A T 1: 130,368,108 (GRCm39) C372S probably benign Het
Clip2 A T 5: 134,526,936 (GRCm39) probably benign Het
Dgkb A G 12: 38,186,615 (GRCm39) N262D probably damaging Het
Fam227b C T 2: 125,966,499 (GRCm39) probably null Het
Foxj2 G A 6: 122,809,966 (GRCm39) probably null Het
Gm4297 T A X: 24,418,810 (GRCm39) probably benign Het
Grik3 A G 4: 125,553,555 (GRCm39) D429G probably benign Het
Hcfc1 T C X: 72,994,935 (GRCm39) I924V possibly damaging Het
Lrrk1 A G 7: 65,956,642 (GRCm39) V411A probably damaging Het
Mdh1 A T 11: 21,514,168 (GRCm39) V83E probably damaging Het
Pa2g4 A G 10: 128,401,647 (GRCm39) V17A probably damaging Het
Podnl1 G A 8: 84,858,818 (GRCm39) V548I probably benign Het
Polr2a G T 11: 69,638,107 (GRCm39) probably null Het
Ptk2 C T 15: 73,108,065 (GRCm39) S722N probably damaging Het
Rock2 A G 12: 17,025,508 (GRCm39) D1243G probably benign Het
Sirt4 T C 5: 115,621,061 (GRCm39) D37G probably benign Het
Slc35d1 T C 4: 103,042,085 (GRCm39) Y249C probably damaging Het
Snrnp27 A T 6: 86,659,968 (GRCm39) probably null Het
Srek1 T C 13: 103,881,443 (GRCm39) probably null Het
Sspo A T 6: 48,454,516 (GRCm39) I2951F probably benign Het
Stxbp3 A G 3: 108,734,405 (GRCm39) F40L probably damaging Het
Sympk T C 7: 18,778,921 (GRCm39) V604A possibly damaging Het
Tbc1d2b T C 9: 90,104,510 (GRCm39) Y544C probably damaging Het
Tnpo2 C T 8: 85,778,347 (GRCm39) T592I possibly damaging Het
Txndc16 T C 14: 45,388,941 (GRCm39) probably benign Het
Ubr5 A T 15: 38,045,964 (GRCm39) L120Q probably damaging Het
Wdfy4 A T 14: 32,847,844 (GRCm39) M836K probably damaging Het
Wdr48 A G 9: 119,741,479 (GRCm39) N141S probably benign Het
Zc3h7a A T 16: 10,980,528 (GRCm39) Y28* probably null Het
Zfp423 T C 8: 88,508,304 (GRCm39) D659G possibly 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
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
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
Posted On 2016-08-02