Mutagenetix > Incidental Mutation

Incidental Mutation 'R0522:Polg'

48635

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

038715-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0522 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79446231-79466362 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 79460151 bp (GRCm38)

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

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

probably benign
Transcript: ENSMUST00000125562

SMART Domains

Protein: ENSMUSP00000143813
Gene: ENSMUSG00000039176

Domain	Start	End	E-Value	Type
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

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

probably benign
Transcript: ENSMUST00000139668

SMART Domains

Protein: ENSMUSP00000114414
Gene: ENSMUSG00000039176

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: ENSMUST00000142915

Predicted Effect

probably benign
Transcript: ENSMUST00000143672

SMART Domains

Protein: ENSMUSP00000122286
Gene: ENSMUSG00000039176

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: ENSMUST00000201557

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130409I23Rik	A	C	1: 181,059,747	D299A	probably damaging	Het
Adgre5	A	G	8: 83,730,176	I192T	probably benign	Het
Adgrl3	T	C	5: 81,726,801	Y982H	possibly damaging	Het
Adgrv1	T	A	13: 81,528,442		probably benign	Het
Alms1	T	C	6: 85,621,615	V1610A	probably benign	Het
Ankrd24	T	C	10: 81,636,355		probably benign	Het
C2cd3	A	G	7: 100,395,222	N337S	probably benign	Het
Cdc40	T	C	10: 40,857,612	Y114C	probably benign	Het
Cdhr1	A	T	14: 37,094,000		probably null	Het
Cfc1	G	A	1: 34,537,153	C98Y	probably damaging	Het
Cyp11b2	A	T	15: 74,851,684		probably benign	Het
Cyth4	C	A	15: 78,615,785	H255Q	possibly damaging	Het
Dip2a	T	C	10: 76,321,531	K80R	probably benign	Het
Dnajb5	G	T	4: 42,957,083	D257Y	probably damaging	Het
Dynll1	T	C	5: 115,300,506		probably benign	Het
Edn1	T	A	13: 42,304,954	V81E	probably damaging	Het
F5	T	C	1: 164,211,763	S1981P	probably damaging	Het
Fam186b	T	A	15: 99,280,519	M309L	probably benign	Het
Gm14221	G	A	2: 160,574,677		noncoding transcript	Het
Gnptab	T	A	10: 88,431,466		probably benign	Het
Golgb1	AAGAGAGAGAGAGAGA	AAGAGAGAGAGAGA	16: 36,915,205		probably null	Het
Gpr176	A	G	2: 118,284,012	C106R	probably damaging	Het
Hdac7	A	T	15: 97,806,679		probably null	Het
Hlx	T	C	1: 184,731,640	S168G	probably damaging	Het
Hnf1a	G	T	5: 114,950,688		probably benign	Het
Hp1bp3	C	T	4: 138,222,161	L19F	possibly damaging	Het
Hspa14	T	A	2: 3,511,049	T63S	probably damaging	Het
Insrr	C	T	3: 87,800,872	S207F	probably damaging	Het
Jak3	C	A	8: 71,682,274		probably benign	Het
Jmjd7	G	A	2: 120,030,341	A91T	probably damaging	Het
Lgals9	G	T	11: 78,965,812	H265Q	possibly damaging	Het
Lrriq1	T	G	10: 103,161,777	N1326H	probably damaging	Het
Mdn1	C	A	4: 32,672,837	Q486K	probably benign	Het
Mpeg1	A	G	19: 12,461,759	T194A	probably damaging	Het
Nek5	T	A	8: 22,088,797		probably benign	Het
Pcgf2	A	C	11: 97,692,047	I135M	probably benign	Het
Phactr1	G	T	13: 43,059,591	A222S	probably benign	Het
Pla2r1	T	C	2: 60,479,515	S575G	probably benign	Het
Plcg2	T	C	8: 117,614,288		probably null	Het
Pold3	A	G	7: 100,121,383	V14A	probably damaging	Het
Poteg	T	G	8: 27,449,958	L48V	possibly damaging	Het
Prmt1	A	T	7: 44,981,779	C50S	probably benign	Het
Prx	T	A	7: 27,518,195	V707E	probably damaging	Het
Rrp12	C	T	19: 41,874,705		probably benign	Het
Saxo1	A	T	4: 86,445,103	V381E	probably damaging	Het
Sh2d2a	T	C	3: 87,847,109		probably null	Het
Slc26a5	A	C	5: 21,846,345	I57R	probably damaging	Het
Slc38a3	T	A	9: 107,655,213		probably null	Het
Slc5a4b	T	C	10: 76,090,700	T188A	probably damaging	Het
Slc7a13	A	G	4: 19,824,010	I260V	probably benign	Het
Smg8	A	T	11: 87,086,462	S98T	probably benign	Het
Spg20	T	A	3: 55,128,365	S548R	probably damaging	Het
Sult6b1	C	T	17: 78,905,529	G98S	probably damaging	Het
Tbc1d2	A	G	4: 46,649,806	Y77H	probably damaging	Het
Tet2	T	A	3: 133,466,804	D1899V	probably damaging	Het
Tmcc1	C	CAT	6: 116,042,870		probably null	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Trp53bp1	C	A	2: 121,251,868	A317S	probably null	Het
Uap1l1	T	C	2: 25,363,277	E382G	probably damaging	Het
Ugt1a10	C	T	1: 88,218,249	P473L	probably damaging	Het
Ugt1a9	T	C	1: 88,071,392	V188A	probably damaging	Het
Virma	T	C	4: 11,519,416		probably null	Het
Xrcc6	T	C	15: 82,022,592		probably benign	Het
Zfp719	A	G	7: 43,589,253		probably null	Het
Zfp804b	T	A	5: 6,772,014	T350S	probably benign	Het
Zfp959	G	T	17: 55,896,201	R61M	probably null	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
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
R1997:Polg	UTSW	7	79459231	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'- GCTGCCATAAATGACCACAGGAGAC -3'
(R):5'- CACTTGAGACCAAGCTGACTTCCC -3'

Sequencing Primer
(F):5'- TCTCTCAGCCTACAAAAGCTAAGTG -3'
(R):5'- CTGGATGGATATCAGCAGTGCC -3'

Posted On

2013-06-12