Mutagenetix > Incidental Mutation

Incidental Mutation 'R5285:Polg'

402988

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

042869-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5285 (G1)

Quality Score

137

Status

Validated

Chromosome

Chromosomal Location

79446231-79466362 bp(-) (GRCm38)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

A to G at 79465225 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

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: ENSMUST00000142915

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205285

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

98% (65/66)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	G	8: 105,708,465	T12A	probably benign	Het
Acbd6	T	A	1: 155,558,725	S30T	probably benign	Het
Adcy8	G	T	15: 64,767,857	H685N	possibly damaging	Het
Aldh1l1	A	T	6: 90,576,770	K539*	probably null	Het
Ap1m2	G	T	9: 21,305,637	Y134*	probably null	Het
Apobr	A	G	7: 126,585,003		probably benign	Het
Atl1	A	G	12: 69,954,499	K345R	probably benign	Het
Avil	T	C	10: 127,018,459	L765P	probably damaging	Het
Caps2	T	A	10: 112,208,311	Y472N	probably benign	Het
Cd177	A	T	7: 24,746,249	S590T	probably benign	Het
Cep295	T	C	9: 15,322,591	D2223G	probably benign	Het
Cfh	T	C	1: 140,100,898	T493A	probably benign	Het
Chek1	T	C	9: 36,714,452	D299G	probably benign	Het
Cpox	G	A	16: 58,675,286	G322D	probably damaging	Het
Crhr1	A	T	11: 104,170,497	I243F	possibly damaging	Het
Cyp3a11	A	G	5: 145,855,083	V500A	probably benign	Het
Dcdc5	A	T	2: 106,368,155		noncoding transcript	Het
Ergic3	A	G	2: 156,018,037		probably benign	Het
Fabp3-ps1	T	G	10: 86,732,202		probably benign	Het
Gm16432	A	G	1: 178,103,888	K458E	unknown	Het
Gm6445	C	A	19: 9,607,668		noncoding transcript	Het
Gucy2d	C	A	7: 98,458,267		probably null	Het
Ighv1-19-1	C	A	12: 114,704,252		probably benign	Het
Igkv2-116	G	T	6: 68,152,479	R75L	probably benign	Het
Inhbc	C	A	10: 127,357,400	R249L	probably damaging	Het
Lrrn2	T	A	1: 132,939,245	S683T	possibly damaging	Het
Lyst	T	C	13: 13,634,426	V227A	probably benign	Het
Mroh5	TGGAG	TG	15: 73,783,074		probably benign	Het
Msh4	T	C	3: 153,873,713	N587S	probably benign	Het
Mug1	G	A	6: 121,841,107	E126K	probably benign	Het
Nav2	T	C	7: 49,548,234	S1204P	probably damaging	Het
Ncor1	A	G	11: 62,392,649	I413T	probably damaging	Het
Nipa2	A	T	7: 55,933,012	Y328*	probably null	Het
Olfr178	A	T	16: 58,890,108	Y37*	probably null	Het
Olfr195	T	C	16: 59,149,270	L140P	probably damaging	Het
Olfr384	T	A	11: 73,602,941	Y120*	probably null	Het
Olfr593	C	T	7: 103,212,798	R302*	probably null	Het
Olfr645	A	G	7: 104,084,133	*316R	probably null	Het
Pla2g4e	T	C	2: 120,189,504	D155G	probably damaging	Het
Plxnb1	C	T	9: 109,108,459	T1176I	probably damaging	Het
Prl8a2	G	A	13: 27,350,133		probably null	Het
Prmt7	G	A	8: 106,248,359	R529Q	probably benign	Het
Psg17	T	A	7: 18,820,201	L41F	probably benign	Het
Rad18	T	C	6: 112,686,765	R73G	probably benign	Het
Rhpn2	G	T	7: 35,381,565		probably benign	Het
Robo4	CGG	CG	9: 37,411,490		probably null	Het
Sarm1	A	G	11: 78,497,439	F7S	probably benign	Het
Sgip1	T	A	4: 102,921,477		probably benign	Het
Sh3gl2	A	G	4: 85,376,449	K99R	probably benign	Het
Sorbs1	G	A	19: 40,321,890	T1018I	probably damaging	Het
Spns2	G	A	11: 72,489,479	A106V	possibly damaging	Het
Stab1	A	G	14: 31,143,476		probably benign	Het
Steap3	T	C	1: 120,241,880	D191G	probably damaging	Het
Stxbp5	T	C	10: 9,798,275		probably null	Het
Sycp2	A	T	2: 178,392,398		probably null	Het
Tm6sf1	A	G	7: 81,859,452	S2G	possibly damaging	Het
Usp24	T	A	4: 106,407,033	D1720E	probably benign	Het
Vmn1r200	G	A	13: 22,395,287	E78K	possibly damaging	Het
Vmn2r120	A	G	17: 57,536,703	L47P	probably damaging	Het
Vmn2r14	T	C	5: 109,217,576	N544S	probably damaging	Het
Vwa1	C	T	4: 155,770,895	A254T	probably benign	Het
Zfp7	G	A	15: 76,891,222	R488Q	probably damaging	Het
Zfp940	A	T	7: 29,845,600	L294H	probably 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
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
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'- CTCGACAACATCTGGATGAGC -3'
(R):5'- GTTTGTTCAAGTCCGTGACAC -3'

Sequencing Primer
(F):5'- CATCTGGATGAGCAGAGGGTTG -3'
(R):5'- GTCCGTGACACTTGTAATAACAC -3'

Posted On

2016-07-22