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

Pol gamma, Polga, 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

79446231-79466362 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79459231 bp (GRCm38)

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

noncoding transcript
Transcript: ENSMUST00000142915

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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154403

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201557

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
1600015I10Rik	A	T	6: 48,932,429	Q536L	probably damaging	Het
3425401B19Rik	A	G	14: 32,660,048	F1320S	possibly damaging	Het
Aaas	C	T	15: 102,340,059	V241I	probably benign	Het
Abca17	A	G	17: 24,285,726	I1233T	probably benign	Het
Acin1	T	C	14: 54,646,699		probably null	Het
Acly	A	T	11: 100,519,151	I185N	probably damaging	Het
Adamts16	T	C	13: 70,753,267	D897G	probably benign	Het
Allc	A	C	12: 28,563,483	D153E	probably benign	Het
Ankrd12	A	G	17: 65,984,884	S1185P	probably damaging	Het
Ap1g2	T	C	14: 55,102,378	E448G	probably benign	Het
Atg9a	A	T	1: 75,189,626	V50D	probably benign	Het
Bace2	A	T	16: 97,415,089	D294V	possibly damaging	Het
Camsap2	T	C	1: 136,271,545	K708E	probably damaging	Het
Card10	G	A	15: 78,793,975	R358C	probably damaging	Het
Ccdc81	A	T	7: 89,898,063	V39E	probably damaging	Het
Cdh7	A	T	1: 110,048,938	D111V	probably damaging	Het
Cercam	C	A	2: 29,872,923	T223K	probably benign	Het
Cog5	A	G	12: 31,660,849	H76R	possibly damaging	Het
Col28a1	A	T	6: 7,999,644	N1024K	probably benign	Het
Csrnp3	A	T	2: 65,949,102	N41Y	probably damaging	Het
Cyp2t4	G	A	7: 27,157,613		probably null	Het
Dbn1	T	C	13: 55,482,441	H38R	probably damaging	Het
Dclre1b	A	G	3: 103,803,356	V287A	probably benign	Het
Dennd4c	A	G	4: 86,837,397	T1609A	probably benign	Het
Depdc5	T	A	5: 32,901,906		probably null	Het
Dhcr7	T	G	7: 143,847,430	D446E	probably damaging	Het
Dlx5	A	T	6: 6,879,680	M129K	possibly damaging	Het
Dnah11	C	G	12: 118,082,468	G1745A	possibly damaging	Het
Dnm3	T	C	1: 162,353,712	T133A	possibly damaging	Het
Eif3e	A	G	15: 43,265,609	L205P	probably damaging	Het
Fam166a	T	G	2: 25,220,205	L43R	probably damaging	Het
Fam91a1	A	G	15: 58,424,195		probably null	Het
Fank1	C	T	7: 133,862,225	T50I	probably damaging	Het
Fhod3	A	G	18: 25,090,416	T940A	possibly damaging	Het
Fkbp10	T	C	11: 100,416,015	F78L	probably damaging	Het
Gabbr2	A	C	4: 46,787,502	F387C	probably damaging	Het
Ggnbp2	A	T	11: 84,860,561	L138I	probably damaging	Het
Gm2832	T	A	14: 41,280,986		probably null	Het
Gm38394	A	G	1: 133,656,713	L962P	probably damaging	Het
Gm5084	T	A	13: 60,212,530		noncoding transcript	Het
Gm9979	T	C	13: 40,705,752		noncoding transcript	Het
Hepacam2	A	G	6: 3,487,241	S39P	probably damaging	Het
Hesx1	A	T	14: 27,001,383	N57Y	probably damaging	Het
Kcnh1	G	A	1: 192,276,935	V266I	probably damaging	Het
Kif24	T	C	4: 41,392,904	T1168A	possibly damaging	Het
Kng2	A	T	16: 23,024,876	F118I	possibly damaging	Het
Lig3	C	T	11: 82,787,666	P245S	probably benign	Het
Loxhd1	G	T	18: 77,295,769	W121C	probably damaging	Het
Ltn1	A	G	16: 87,381,637	V1568A	probably damaging	Het
Map3k4	A	T	17: 12,254,995		probably null	Het
Mcm10	C	T	2: 4,993,760	V790M	probably damaging	Het
Mia3	A	T	1: 183,344,286	F1223I	possibly damaging	Het
Mlec	C	A	5: 115,150,346	K150N	probably damaging	Het
Morn4	T	C	19: 42,076,538	K70R	possibly damaging	Het
Mphosph10	A	C	7: 64,387,447		probably null	Het
Myocd	G	A	11: 65,204,321	Q47*	probably null	Het
Nav2	T	A	7: 49,548,471	S1283T	probably benign	Het
Nbeal2	T	C	9: 110,632,198	H1599R	probably damaging	Het
Nek10	G	T	14: 14,827,003	G67V	probably benign	Het
Nlgn2	A	C	11: 69,828,050	V271G	probably damaging	Het
Olfr167	A	C	16: 19,515,042	V198G	probably damaging	Het
Olfr97	A	G	17: 37,231,632	V246A	probably damaging	Het
Pcolce2	A	T	9: 95,694,740	M355L	probably benign	Het
Per2	T	C	1: 91,440,859	E264G	probably damaging	Het
Phf2	A	G	13: 48,828,908	L113P	unknown	Het
Piwil2	A	G	14: 70,426,658	V14A	possibly damaging	Het
Plekha6	G	A	1: 133,263,818	A146T	probably benign	Het
Plxnb2	C	T	15: 89,158,768	V1473I	probably benign	Het
Pms2	T	C	5: 143,913,700	L111P	probably damaging	Het
Ppp1r12b	A	G	1: 134,846,355		probably benign	Het
Ppp2r1b	T	A	9: 50,867,371	M208K	possibly damaging	Het
Prdm5	A	G	6: 65,936,088	Y207C	probably damaging	Het
Prkar2b	A	G	12: 31,963,935	V314A	probably damaging	Het
Proser1	T	A	3: 53,478,871	S725T	probably benign	Het
Psg20	A	G	7: 18,682,610	F194L	probably benign	Het
Ptprz1	A	G	6: 23,050,497	I2255V	probably damaging	Het
Sardh	T	G	2: 27,244,397	T36P	probably damaging	Het
Sec23a	T	A	12: 59,002,007	I110L	probably benign	Het
Slc22a29	T	A	19: 8,217,798	I158L	probably benign	Het
Slc35c1	T	C	2: 92,454,639	D210G	probably benign	Het
Syde2	A	G	3: 145,998,991	N566S	probably benign	Het
Tcf20	G	A	15: 82,857,230	Q7*	probably null	Het
Terb2	T	A	2: 122,204,857	H186Q	possibly damaging	Het
Tet2	G	A	3: 133,486,589	Q695*	probably null	Het
Tnfaip1	T	C	11: 78,530,147	Y29C	probably damaging	Het
Traf3	A	G	12: 111,260,661	K328E	probably benign	Het
Uaca	A	G	9: 60,870,341	E668G	probably damaging	Het
Ube2o	T	A	11: 116,545,337	E326V	probably damaging	Het
Ubr1	C	T	2: 120,946,273		probably null	Het
Vmn1r19	T	A	6: 57,405,048	S195R	probably damaging	Het
Vmn1r213	T	G	13: 23,012,303	V352G	probably benign	Het
Vmn2r19	T	A	6: 123,315,921	D307E	probably damaging	Het
Wdfy3	T	C	5: 101,968,946	D76G	probably damaging	Het
Zan	A	T	5: 137,403,114	C4114*	probably null	Het
Zdhhc23	A	T	16: 43,978,942	C37S	probably damaging	Het
Zfp628	G	T	7: 4,918,832	G18W	probably damaging	Het
Zfp712	T	A	13: 67,042,050	K138*	probably null	Het
Zfp867	A	T	11: 59,463,591	V304D	probably damaging	Het
Zfp870	T	C	17: 32,884,053	T102A	possibly damaging	Het
Zmym5	G	A	14: 56,797,753	S286L	possibly damaging	Het

Other mutations in Polg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00767:Polg	APN	7	79451925	missense	probably damaging	1.00
IGL00970:Polg	APN	7	79451745	missense	probably benign	0.01
IGL01883:Polg	APN	7	79458318	missense	probably damaging	1.00
IGL02124:Polg	APN	7	79459737	missense	probably damaging	1.00
IGL02127:Polg	APN	7	79458167	unclassified	probably benign
IGL02820:Polg	APN	7	79459771	missense	possibly damaging	0.92
IGL03075:Polg	APN	7	79451912	missense	probably damaging	1.00
IGL03180:Polg	APN	7	79451853	splice site	probably benign
IGL03198:Polg	APN	7	79451722	missense	probably damaging	1.00
IGL03222:Polg	APN	7	79454656	missense	probably damaging	0.98
R0030:Polg	UTSW	7	79452128	missense	probably damaging	1.00
R0064:Polg	UTSW	7	79461884	missense	probably damaging	1.00
R0064:Polg	UTSW	7	79461884	missense	probably damaging	1.00
R0416:Polg	UTSW	7	79452240	unclassified	probably benign
R0522:Polg	UTSW	7	79460151	splice site	probably benign
R0638:Polg	UTSW	7	79460148	splice site	probably benign
R1263:Polg	UTSW	7	79459786	missense	probably benign
R1831:Polg	UTSW	7	79459770	missense	probably benign	0.41
R1873:Polg	UTSW	7	79456493	missense	probably benign	0.04
R1906:Polg	UTSW	7	79460322	missense	probably damaging	1.00
R2127:Polg	UTSW	7	79464928	missense	probably damaging	1.00
R2155:Polg	UTSW	7	79461720	missense	possibly damaging	0.94
R2156:Polg	UTSW	7	79461720	missense	possibly damaging	0.94
R2173:Polg	UTSW	7	79455593	missense	probably damaging	0.99
R3720:Polg	UTSW	7	79456791	nonsense	probably null
R4082:Polg	UTSW	7	79464828	missense	probably damaging	1.00
R4127:Polg	UTSW	7	79455537	missense	probably damaging	1.00
R4510:Polg	UTSW	7	79455522	missense	probably benign	0.01
R4511:Polg	UTSW	7	79455522	missense	probably benign	0.01
R4571:Polg	UTSW	7	79460379	missense	probably damaging	1.00
R4888:Polg	UTSW	7	79464605	missense	probably damaging	1.00
R5008:Polg	UTSW	7	79460074	missense	probably damaging	1.00
R5095:Polg	UTSW	7	79460300	missense	possibly damaging	0.92
R5121:Polg	UTSW	7	79464605	missense	probably damaging	1.00
R5139:Polg	UTSW	7	79450025	missense	probably damaging	1.00
R5213:Polg	UTSW	7	79454098	missense	probably damaging	1.00
R5285:Polg	UTSW	7	79465225	utr 5 prime	probably benign
R5498:Polg	UTSW	7	79454670	missense	probably damaging	1.00
R5714:Polg	UTSW	7	79451991	missense	possibly damaging	0.53
R5940:Polg	UTSW	7	79454071	missense	possibly damaging	0.95
R6146:Polg	UTSW	7	79450512	missense	probably benign	0.02
R6754:Polg	UTSW	7	79459836	missense	probably damaging	1.00
R6791:Polg	UTSW	7	79460109	missense	probably benign	0.25
R6829:Polg	UTSW	7	79460109	missense	probably benign	0.25
R6913:Polg	UTSW	7	79460657	missense	probably damaging	0.97
R7644:Polg	UTSW	7	79451668	missense	probably damaging	1.00
R7879:Polg	UTSW	7	79450644	missense	probably benign	0.22
R8174:Polg	UTSW	7	79456718	missense	probably benign	0.10
R8443:Polg	UTSW	7	79464995	missense	probably benign
R9176:Polg	UTSW	7	79460109	missense	probably benign	0.25
R9181:Polg	UTSW	7	79454673	missense	probably damaging	1.00
R9303:Polg	UTSW	7	79456112	missense	probably benign	0.02
R9305:Polg	UTSW	7	79456112	missense	probably benign	0.02
R9323:Polg	UTSW	7	79465031	frame shift	probably null
R9323:Polg	UTSW	7	79465038	frame shift	probably null
R9331:Polg	UTSW	7	79458400	missense	probably damaging	1.00
Z1176:Polg	UTSW	7	79453741	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