Mutagenetix > Incidental Mutation

Incidental Mutation 'R1997:Polg'

224344

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

040007-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1997 (G1)

Quality Score

218

Status

Not validated

Chromosome

Chromosomal Location

79095979-79116110 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79108979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 533 (L533P)

Ref Sequence

ENSEMBL: ENSMUSP00000073551 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073889] [ENSMUST00000132048] [ENSMUST00000149444]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000073889
AA Change: L533P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000073551
Gene: ENSMUSG00000039176
AA Change: L533P

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

noncoding transcript
Transcript: ENSMUST00000139597

Predicted Effect

unknown
Transcript: ENSMUST00000139668
AA Change: L25P

SMART Domains

Protein: ENSMUSP00000114414
Gene: ENSMUSG00000039176
AA Change: L25P

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

unknown
Transcript: ENSMUST00000143672
AA Change: L52P

SMART Domains

Protein: ENSMUSP00000122286
Gene: ENSMUSG00000039176
AA Change: L52P

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: ENSMUST00000142915

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154403

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201557

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.2%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,382,005 (GRCm39)	F1320S	possibly damaging	Het
Aaas	C	T	15: 102,248,494 (GRCm39)	V241I	probably benign	Het
Abca17	A	G	17: 24,504,700 (GRCm39)	I1233T	probably benign	Het
Acin1	T	C	14: 54,884,156 (GRCm39)		probably null	Het
Acly	A	T	11: 100,409,977 (GRCm39)	I185N	probably damaging	Het
Adamts16	T	C	13: 70,901,386 (GRCm39)	D897G	probably benign	Het
Allc	A	C	12: 28,613,482 (GRCm39)	D153E	probably benign	Het
Ankrd12	A	G	17: 66,291,879 (GRCm39)	S1185P	probably damaging	Het
Aoc1l2	A	T	6: 48,909,363 (GRCm39)	Q536L	probably damaging	Het
Ap1g2	T	C	14: 55,339,835 (GRCm39)	E448G	probably benign	Het
Atg9a	A	T	1: 75,166,270 (GRCm39)	V50D	probably benign	Het
Bace2	A	T	16: 97,216,289 (GRCm39)	D294V	possibly damaging	Het
Camsap2	T	C	1: 136,199,283 (GRCm39)	K708E	probably damaging	Het
Card10	G	A	15: 78,678,175 (GRCm39)	R358C	probably damaging	Het
Ccdc81	A	T	7: 89,547,271 (GRCm39)	V39E	probably damaging	Het
Cdh20	A	T	1: 109,976,668 (GRCm39)	D111V	probably damaging	Het
Cercam	C	A	2: 29,762,935 (GRCm39)	T223K	probably benign	Het
Cimip2a	T	G	2: 25,110,217 (GRCm39)	L43R	probably damaging	Het
Cog5	A	G	12: 31,710,848 (GRCm39)	H76R	possibly damaging	Het
Col28a1	A	T	6: 7,999,644 (GRCm39)	N1024K	probably benign	Het
Csrnp3	A	T	2: 65,779,446 (GRCm39)	N41Y	probably damaging	Het
Cyp2t4	G	A	7: 26,857,038 (GRCm39)		probably null	Het
Dbn1	T	C	13: 55,630,254 (GRCm39)	H38R	probably damaging	Het
Dclre1b	A	G	3: 103,710,672 (GRCm39)	V287A	probably benign	Het
Dennd4c	A	G	4: 86,755,634 (GRCm39)	T1609A	probably benign	Het
Depdc5	T	A	5: 33,059,250 (GRCm39)		probably null	Het
Dhcr7	T	G	7: 143,401,167 (GRCm39)	D446E	probably damaging	Het
Dlx5	A	T	6: 6,879,680 (GRCm39)	M129K	possibly damaging	Het
Dnah11	C	G	12: 118,046,203 (GRCm39)	G1745A	possibly damaging	Het
Dnm3	T	C	1: 162,181,281 (GRCm39)	T133A	possibly damaging	Het
Eif3e	A	G	15: 43,129,005 (GRCm39)	L205P	probably damaging	Het
Fam91a1	A	G	15: 58,296,044 (GRCm39)		probably null	Het
Fank1	C	T	7: 133,463,954 (GRCm39)	T50I	probably damaging	Het
Fhod3	A	G	18: 25,223,473 (GRCm39)	T940A	possibly damaging	Het
Fkbp10	T	C	11: 100,306,841 (GRCm39)	F78L	probably damaging	Het
Gabbr2	A	C	4: 46,787,502 (GRCm39)	F387C	probably damaging	Het
Ggnbp2	A	T	11: 84,751,387 (GRCm39)	L138I	probably damaging	Het
Gm2832	T	A	14: 41,002,943 (GRCm39)		probably null	Het
Gm5084	T	A	13: 60,360,344 (GRCm39)		noncoding transcript	Het
Gm9979	T	C	13: 40,859,228 (GRCm39)		noncoding transcript	Het
Hepacam2	A	G	6: 3,487,241 (GRCm39)	S39P	probably damaging	Het
Hesx1	A	T	14: 26,723,340 (GRCm39)	N57Y	probably damaging	Het
Kcnh1	G	A	1: 191,959,243 (GRCm39)	V266I	probably damaging	Het
Kif24	T	C	4: 41,392,904 (GRCm39)	T1168A	possibly damaging	Het
Kng2	A	T	16: 22,843,626 (GRCm39)	F118I	possibly damaging	Het
Lig3	C	T	11: 82,678,492 (GRCm39)	P245S	probably benign	Het
Loxhd1	G	T	18: 77,383,465 (GRCm39)	W121C	probably damaging	Het
Ltn1	A	G	16: 87,178,525 (GRCm39)	V1568A	probably damaging	Het
Map3k4	A	T	17: 12,473,882 (GRCm39)		probably null	Het
Mcm10	C	T	2: 4,998,571 (GRCm39)	V790M	probably damaging	Het
Mia3	A	T	1: 183,125,707 (GRCm39)	F1223I	possibly damaging	Het
Mlec	C	A	5: 115,288,405 (GRCm39)	K150N	probably damaging	Het
Morn4	T	C	19: 42,064,977 (GRCm39)	K70R	possibly damaging	Het
Mphosph10	A	C	7: 64,037,195 (GRCm39)		probably null	Het
Myocd	G	A	11: 65,095,147 (GRCm39)	Q47*	probably null	Het
Nav2	T	A	7: 49,198,219 (GRCm39)	S1283T	probably benign	Het
Nbeal2	T	C	9: 110,461,266 (GRCm39)	H1599R	probably damaging	Het
Nek10	G	T	14: 14,827,003 (GRCm38)	G67V	probably benign	Het
Nlgn2	A	C	11: 69,718,876 (GRCm39)	V271G	probably damaging	Het
Or1o2	A	G	17: 37,542,523 (GRCm39)	V246A	probably damaging	Het
Or2l5	A	C	16: 19,333,792 (GRCm39)	V198G	probably damaging	Het
Pcolce2	A	T	9: 95,576,793 (GRCm39)	M355L	probably benign	Het
Per2	T	C	1: 91,368,581 (GRCm39)	E264G	probably damaging	Het
Phf2	A	G	13: 48,982,384 (GRCm39)	L113P	unknown	Het
Piwil2	A	G	14: 70,664,107 (GRCm39)	V14A	possibly damaging	Het
Plekha6	G	A	1: 133,191,556 (GRCm39)	A146T	probably benign	Het
Plxnb2	C	T	15: 89,042,971 (GRCm39)	V1473I	probably benign	Het
Pms2	T	C	5: 143,850,518 (GRCm39)	L111P	probably damaging	Het
Ppp1r12b	A	G	1: 134,774,093 (GRCm39)		probably benign	Het
Ppp2r1b	T	A	9: 50,778,671 (GRCm39)	M208K	possibly damaging	Het
Prdm5	A	G	6: 65,913,072 (GRCm39)	Y207C	probably damaging	Het
Prkar2b	A	G	12: 32,013,934 (GRCm39)	V314A	probably damaging	Het
Proser1	T	A	3: 53,386,292 (GRCm39)	S725T	probably benign	Het
Psg20	A	G	7: 18,416,535 (GRCm39)	F194L	probably benign	Het
Ptprz1	A	G	6: 23,050,496 (GRCm39)	I2255V	probably damaging	Het
Sardh	T	G	2: 27,134,409 (GRCm39)	T36P	probably damaging	Het
Sec23a	T	A	12: 59,048,793 (GRCm39)	I110L	probably benign	Het
Slc22a29	T	A	19: 8,195,162 (GRCm39)	I158L	probably benign	Het
Slc35c1	T	C	2: 92,284,984 (GRCm39)	D210G	probably benign	Het
Syde2	A	G	3: 145,704,746 (GRCm39)	N566S	probably benign	Het
Tcf20	G	A	15: 82,741,431 (GRCm39)	Q7*	probably null	Het
Terb2	T	A	2: 122,035,338 (GRCm39)	H186Q	possibly damaging	Het
Tet2	G	A	3: 133,192,350 (GRCm39)	Q695*	probably null	Het
Tnfaip1	T	C	11: 78,420,973 (GRCm39)	Y29C	probably damaging	Het
Traf3	A	G	12: 111,227,095 (GRCm39)	K328E	probably benign	Het
Uaca	A	G	9: 60,777,623 (GRCm39)	E668G	probably damaging	Het
Ube2o	T	A	11: 116,436,163 (GRCm39)	E326V	probably damaging	Het
Ubr1	C	T	2: 120,776,754 (GRCm39)		probably null	Het
Vmn1r19	T	A	6: 57,382,033 (GRCm39)	S195R	probably damaging	Het
Vmn1r213	T	G	13: 23,196,473 (GRCm39)	V352G	probably benign	Het
Vmn2r19	T	A	6: 123,292,880 (GRCm39)	D307E	probably damaging	Het
Wdfy3	T	C	5: 102,116,812 (GRCm39)	D76G	probably damaging	Het
Zan	A	T	5: 137,401,376 (GRCm39)	C4114*	probably null	Het
Zbed6	A	G	1: 133,584,451 (GRCm39)	L962P	probably damaging	Het
Zdhhc23	A	T	16: 43,799,305 (GRCm39)	C37S	probably damaging	Het
Zfp628	G	T	7: 4,921,831 (GRCm39)	G18W	probably damaging	Het
Zfp712	T	A	13: 67,190,114 (GRCm39)	K138*	probably null	Het
Zfp867	A	T	11: 59,354,417 (GRCm39)	V304D	probably damaging	Het
Zfp870	T	C	17: 33,103,027 (GRCm39)	T102A	possibly damaging	Het
Zmym5	G	A	14: 57,035,210 (GRCm39)	S286L	possibly damaging	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
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'- GTCAGAGTCAACACAAGTGAGC -3'
(R):5'- TCCCATGGATCAGGAAGGTG -3'

Sequencing Primer
(F):5'- TCAACACAAGTGAGCAGAAACG -3'
(R):5'- ACAGGGTGATCTCTGGGAC -3'

Posted On

2014-08-25