Mutagenetix > Incidental Mutation

Incidental Mutation 'R4888:Polg'

426232

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

042493-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4888 (G1)

Quality Score

211

Status

Validated

Chromosome

Chromosomal Location

79095979-79116110 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79114353 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 203 (W203R)

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 damaging
Transcript: ENSMUST00000073889
AA Change: W203R

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

SMART Domains

Protein: ENSMUSP00000073551
Gene: ENSMUSG00000039176
AA Change: W203R

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

probably damaging
Transcript: ENSMUST00000132048
AA Change: W203R

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

SMART Domains

Protein: ENSMUSP00000143933
Gene: ENSMUSG00000039176
AA Change: W203R

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: 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 damaging
Transcript: ENSMUST00000149444
AA Change: W203R

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

SMART Domains

Protein: ENSMUSP00000119616
Gene: ENSMUSG00000039176
AA Change: W203R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205285

Meta Mutation Damage Score

0.9729

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

99% (150/151)

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: 139 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931403M11Rik	C	A	14: 24,671,419 (GRCm39)		noncoding transcript	Het
Abca7	A	G	10: 79,838,562 (GRCm39)	K612R	probably damaging	Het
Adamtsl3	T	C	7: 82,223,822 (GRCm39)	V275A	possibly damaging	Het
Afg3l1	G	A	8: 124,215,065 (GRCm39)		probably null	Het
Ajm1	G	A	2: 25,469,759 (GRCm39)	R51C	possibly damaging	Het
Alcam	T	A	16: 52,089,176 (GRCm39)	H508L	probably benign	Het
Ankrd45	G	A	1: 160,982,942 (GRCm39)	R151H	probably damaging	Het
Aqr	G	A	2: 113,980,990 (GRCm39)	L264F	probably damaging	Het
Arfgef2	G	A	2: 166,677,533 (GRCm39)	A53T	probably damaging	Het
Arhgap30	A	G	1: 171,236,880 (GRCm39)	T1085A	probably benign	Het
Atp10a	T	C	7: 58,435,055 (GRCm39)	V314A	probably damaging	Het
Bdp1	T	C	13: 100,187,627 (GRCm39)	D1580G	probably benign	Het
Btbd17	T	A	11: 114,684,917 (GRCm39)	T41S	possibly damaging	Het
Cacna1c	T	C	6: 118,728,400 (GRCm39)	N378S	probably damaging	Het
Camsap1	G	T	2: 25,825,562 (GRCm39)	Q1375K	probably benign	Het
Catsper2	G	T	2: 121,227,604 (GRCm39)		probably null	Het
Cblif	A	G	19: 11,729,583 (GRCm39)	T181A	probably benign	Het
Ccar1	A	G	10: 62,588,997 (GRCm39)	S829P	unknown	Het
Ccdc180	T	C	4: 45,909,308 (GRCm39)	L492P	probably damaging	Het
Ccser2	A	T	14: 36,662,343 (GRCm39)	N280K	probably damaging	Het
Cd37	T	C	7: 44,883,359 (GRCm39)	D271G	probably damaging	Het
Cdcp1	G	A	9: 123,011,194 (GRCm39)		probably benign	Het
Cemip2	T	C	19: 21,833,528 (GRCm39)	V1322A	probably benign	Het
Cep85	T	A	4: 133,892,062 (GRCm39)		probably benign	Het
Cfi	C	T	3: 129,666,726 (GRCm39)	P483L	probably damaging	Het
Csmd1	A	G	8: 15,945,674 (GRCm39)		probably benign	Het
Cytl1	G	T	5: 37,892,918 (GRCm39)	L9F	unknown	Het
Defb26	T	C	2: 152,350,085 (GRCm39)	E65G	possibly damaging	Het
Degs1	G	A	1: 182,104,370 (GRCm39)	T305I	probably damaging	Het
Dnttip2	T	G	3: 122,070,241 (GRCm39)	C485W	probably damaging	Het
Ecel1	G	A	1: 87,076,449 (GRCm39)		probably benign	Het
Edrf1	G	T	7: 133,260,339 (GRCm39)	M83I	probably damaging	Het
Elmo2	A	T	2: 165,137,209 (GRCm39)	C562S	probably benign	Het
Etl4	T	A	2: 20,344,922 (GRCm39)		probably null	Het
F2r	A	C	13: 95,740,905 (GRCm39)	V210G	probably damaging	Het
Fam171a1	T	A	2: 3,224,546 (GRCm39)	V179E	probably damaging	Het
Fmod	G	T	1: 133,967,977 (GRCm39)	V6F	possibly damaging	Het
Foxr2	A	G	X: 151,913,312 (GRCm39)	Q61R	probably damaging	Het
Gabra4	G	A	5: 71,729,546 (GRCm39)	H76Y	probably benign	Het
Gck	A	T	11: 5,859,150 (GRCm39)	M139K	possibly damaging	Het
Gm10192	C	G	4: 97,071,345 (GRCm39)	S20T	probably null	Het
Gm44501	T	C	17: 40,887,515 (GRCm39)	L11P	unknown	Het
Gm572	T	C	4: 148,751,302 (GRCm39)		probably null	Het
Gnas	A	G	2: 174,139,882 (GRCm39)	K17R	possibly damaging	Het
Grm2	T	A	9: 106,527,865 (GRCm39)	S340C	probably damaging	Het
Gsc	T	A	12: 104,438,274 (GRCm39)	H198L	probably damaging	Het
H2-Q3	A	T	17: 35,578,424 (GRCm39)		noncoding transcript	Het
H4c1	T	C	13: 23,944,935 (GRCm39)	D69G	probably damaging	Het
Hivep3	A	G	4: 119,980,131 (GRCm39)	E1723G	probably damaging	Het
Hk3	A	T	13: 55,154,405 (GRCm39)	L757Q	probably damaging	Het
Homer2	A	T	7: 81,299,311 (GRCm39)	D51E	probably benign	Het
Ier3ip1	T	A	18: 77,027,227 (GRCm39)		probably benign	Het
Itch	T	A	2: 155,059,897 (GRCm39)		probably null	Het
Kalrn	T	A	16: 33,991,700 (GRCm39)	Q974L	probably damaging	Het
Kirrel3	G	T	9: 34,924,601 (GRCm39)	G296W	probably damaging	Het
Klhl17	A	G	4: 156,315,082 (GRCm39)	V525A	probably benign	Het
Klhl9	T	C	4: 88,640,182 (GRCm39)	K20E	probably benign	Het
Kmt2a	G	T	9: 44,732,977 (GRCm39)		probably benign	Het
Krt17	C	A	11: 100,147,305 (GRCm39)	V409L	probably benign	Het
Lmx1b	T	C	2: 33,454,802 (GRCm39)	N322S	probably benign	Het
Lrrc63	G	C	14: 75,363,406 (GRCm39)	P242A	probably benign	Het
Ltk	T	C	2: 119,583,708 (GRCm39)	N256D	probably damaging	Het
Map3k19	T	A	1: 127,745,470 (GRCm39)	E1328V	probably damaging	Het
Map4k2	C	T	19: 6,394,033 (GRCm39)	A280V	probably benign	Het
Micall1	C	T	15: 79,016,048 (GRCm39)	R802*	probably null	Het
Mmp14	A	G	14: 54,673,662 (GRCm39)	R109G	probably damaging	Het
Mmp27	A	T	9: 7,581,369 (GRCm39)	H544L	probably benign	Het
Mpeg1	A	G	19: 12,440,434 (GRCm39)	T631A	probably damaging	Het
Mpnd	A	G	17: 56,318,641 (GRCm39)	M217V	probably benign	Het
Mrc2	T	C	11: 105,232,034 (GRCm39)	V862A	probably damaging	Het
Mug2	T	A	6: 122,058,154 (GRCm39)	S1239T	probably damaging	Het
Myb	T	A	10: 21,002,137 (GRCm39)	M616L	probably benign	Het
Myo18b	A	T	5: 113,022,346 (GRCm39)		probably benign	Het
Myo1c	C	A	11: 75,560,053 (GRCm39)	T703N	probably damaging	Het
Myt1l	T	G	12: 29,936,138 (GRCm39)	C909G	unknown	Het
Nbea	T	C	3: 55,912,776 (GRCm39)	S1004G	possibly damaging	Het
Neb	T	C	2: 52,186,319 (GRCm39)	N918D	probably benign	Het
Nrtn	T	C	17: 57,058,636 (GRCm39)	T122A	probably damaging	Het
Nsd3	A	T	8: 26,188,939 (GRCm39)	S1042C	probably damaging	Het
Ntmt2	A	T	1: 163,530,633 (GRCm39)	C269S	probably benign	Het
Nvl	A	G	1: 180,945,191 (GRCm39)	L461S	probably damaging	Het
Onecut2	A	T	18: 64,473,998 (GRCm39)	H183L	possibly damaging	Het
Or13p5	A	C	4: 118,591,885 (GRCm39)	H53P	probably benign	Het
Or2h2	G	A	17: 37,396,343 (GRCm39)	T238I	probably damaging	Het
Or4d10	C	G	19: 12,051,679 (GRCm39)	G106R	probably damaging	Het
Or52e4	A	G	7: 104,705,689 (GRCm39)	T79A	possibly damaging	Het
Or5c1	T	G	2: 37,222,601 (GRCm39)	F281V	probably damaging	Het
Or6c1b	A	C	10: 129,273,248 (GRCm39)	D189A	possibly damaging	Het
Or6z5	A	T	7: 6,477,612 (GRCm39)	I168F	probably damaging	Het
Pcdhb21	G	T	18: 37,648,130 (GRCm39)	V420F	possibly damaging	Het
Pcdhb9	G	A	18: 37,536,286 (GRCm39)	G760D	probably benign	Het
Pglyrp2	G	A	17: 32,637,771 (GRCm39)	P86S	probably benign	Het
Phyhip	T	A	14: 70,704,765 (GRCm39)	V328E	probably damaging	Het
Pitpnb	A	T	5: 111,530,862 (GRCm39)	K218N	possibly damaging	Het
Pitrm1	A	G	13: 6,628,596 (GRCm39)	D963G	probably damaging	Het
Pmfbp1	A	G	8: 110,258,792 (GRCm39)	Y699C	probably damaging	Het
Pmpcb	T	A	5: 21,945,660 (GRCm39)		probably benign	Het
Pramel22	A	G	4: 143,380,971 (GRCm39)	S351P	probably benign	Het
Prss41	A	T	17: 24,055,977 (GRCm39)	M252K	probably benign	Het
Prss46	A	T	9: 110,673,618 (GRCm39)	M1L	possibly damaging	Het
Rimklb	T	C	6: 122,441,051 (GRCm39)		probably null	Het
Rngtt	T	C	4: 33,500,335 (GRCm39)	I556T	unknown	Het
Rock1	A	C	18: 10,122,698 (GRCm39)	D374E	probably benign	Het
Rspry1	C	A	8: 95,385,417 (GRCm39)	H450N	probably benign	Het
Rusc2	T	C	4: 43,423,942 (GRCm39)	V1032A	probably damaging	Het
Sacs	A	G	14: 61,449,647 (GRCm39)	R3898G	probably damaging	Het
Scnn1b	A	T	7: 121,502,110 (GRCm39)	H256L	probably benign	Het
Sh3gl2	T	A	4: 85,297,494 (GRCm39)	H157Q	probably benign	Het
Sipa1l1	C	A	12: 82,389,107 (GRCm39)	S444R	probably damaging	Het
Sntg1	T	A	1: 8,433,818 (GRCm39)	I478F	probably damaging	Het
Spata31e2	A	G	1: 26,722,628 (GRCm39)	Y851H	probably benign	Het
Sptb	G	T	12: 76,655,811 (GRCm39)	L1424M	probably benign	Het
Sry	T	A	Y: 2,663,105 (GRCm39)	H185L	unknown	Het
Stox2	T	G	8: 47,656,198 (GRCm39)	T93P	probably damaging	Het
Tatdn2	T	A	6: 113,681,566 (GRCm39)	F472Y	possibly damaging	Het
Tefm	A	T	11: 80,031,185 (GRCm39)	V17D	possibly damaging	Het
Tekt2	G	T	4: 126,218,460 (GRCm39)	T70N	probably benign	Het
Ticam1	T	C	17: 56,578,642 (GRCm39)	D151G	probably damaging	Het
Tmem63c	A	G	12: 87,136,139 (GRCm39)	E785G	probably damaging	Het
Tnmd	A	T	X: 132,765,551 (GRCm39)	N219I	probably benign	Het
Ttc14	T	A	3: 33,861,024 (GRCm39)	L407*	probably null	Het
Ttll7	T	C	3: 146,599,932 (GRCm39)	M1T	probably null	Het
Ttn	T	A	2: 76,746,835 (GRCm39)		probably null	Het
Uchl1	T	C	5: 66,833,780 (GRCm39)	M12T	probably benign	Het
Uggt2	A	T	14: 119,315,062 (GRCm39)		probably null	Het
Uggt2	T	C	14: 119,286,665 (GRCm39)	T224A	probably damaging	Het
Umodl1	A	G	17: 31,218,175 (GRCm39)	E1254G	probably damaging	Het
Unc5d	A	G	8: 29,156,927 (GRCm39)	F773L	probably benign	Het
Unc80	C	A	1: 66,683,606 (GRCm39)	P2216Q	probably damaging	Het
Usp40	T	A	1: 87,913,923 (GRCm39)		probably null	Het
Vmn1r117	A	T	7: 20,617,421 (GRCm39)	M209K	probably damaging	Het
Vmn2r44	A	T	7: 8,380,985 (GRCm39)	W303R	probably benign	Het
Wnk2	G	A	13: 49,224,478 (GRCm39)	R268C	probably damaging	Het
Wnt2	T	C	6: 18,023,125 (GRCm39)	K175E	possibly damaging	Het
Xkr6	T	C	14: 64,056,953 (GRCm39)	V288A	unknown	Het
Zfp125	A	G	12: 20,950,459 (GRCm39)		noncoding transcript	Het
Zfp512b	A	C	2: 181,228,856 (GRCm39)	V703G	probably damaging	Het
Zglp1	A	T	9: 20,973,957 (GRCm39)	I243N	probably benign	Het
Zgpat	T	C	2: 181,020,651 (GRCm39)	S275P	probably benign	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
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
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'- CGTGGTCATCTTAAATGGTCTCTCAG -3'
(R):5'- AGAGCCTGCCTTACTTGGAG -3'

Sequencing Primer
(F):5'- TCCGAATGGGCCCTGATATG -3'
(R):5'- GCCGCCTCGTTATTGGAG -3'

Posted On

2016-08-30