Mutagenetix > Incidental Mutation

Incidental Mutation 'R0064:Polg'

34401

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

038356-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0064 (G1)

Quality Score

213

Status

Validated

Chromosome

Chromosomal Location

79446231-79466362 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 79461884 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Cysteine at position 206 (W206C)

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: W206C

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

SMART Domains

Protein: ENSMUSP00000073551
Gene: ENSMUSG00000039176
AA Change: W206C

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

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 damaging
Transcript: ENSMUST00000149444
AA Change: W206C

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

SMART Domains

Protein: ENSMUSP00000119616
Gene: ENSMUSG00000039176
AA Change: W206C

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

0.9438

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

100% (55/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	C	11: 110,144,871	L641R	probably damaging	Het
Abca9	G	T	11: 110,144,872	L641M	probably damaging	Het
Abhd18	A	G	3: 40,933,853	I377M	probably benign	Het
Arhgef17	C	A	7: 100,881,354	M1408I	probably benign	Het
Bcl2a1a	G	C	9: 88,957,463	G138A	probably damaging	Het
C4b	A	G	17: 34,738,856	L617P	probably damaging	Het
Ccdc25	T	A	14: 65,854,112	I60K	possibly damaging	Het
Cdk1	T	C	10: 69,345,077	D101G	probably benign	Het
Cdon	A	G	9: 35,489,227	H1079R	probably benign	Het
Cep126	A	T	9: 8,130,182		probably benign	Het
Cic	T	A	7: 25,287,140	S1299T	probably damaging	Het
Cic	C	A	7: 25,287,141	S1299Y	probably damaging	Het
Clstn1	G	A	4: 149,634,796	V361M	probably damaging	Het
Crlf3	A	G	11: 80,057,902	I239T	possibly damaging	Het
Cstf2t	T	A	19: 31,083,299	N78K	probably damaging	Het
Cul1	A	G	6: 47,502,415		probably benign	Het
D430041D05Rik	T	G	2: 104,249,157	T1194P	probably damaging	Het
Fbp2	A	T	13: 62,854,048	F118I	probably damaging	Het
Fbxw14	A	T	9: 109,287,592	Y16*	probably null	Het
Fgd3	T	G	13: 49,296,425	D116A	possibly damaging	Het
Gm7168	C	T	17: 13,949,859	T496I	probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Klhl5	T	A	5: 65,141,288	S137T	probably benign	Het
Knl1	T	A	2: 119,076,243	N1604K	probably benign	Het
Lpcat1	T	A	13: 73,514,466	N463K	probably damaging	Het
Lpl	A	G	8: 68,892,704	H120R	probably damaging	Het
Man1a2	A	T	3: 100,591,883	S412T	possibly damaging	Het
Mcc	C	G	18: 44,519,516		probably benign	Het
Myo18a	G	T	11: 77,847,344	R1704L	probably damaging	Het
Nlrc3	G	T	16: 3,964,087	T486K	possibly damaging	Het
Nrip1	T	A	16: 76,294,670		probably benign	Het
Nutf2	A	G	8: 105,878,809	D92G	probably damaging	Het
Obscn	A	C	11: 59,027,466	V6260G	probably damaging	Het
Olfr320	G	A	11: 58,684,475	V201M	probably benign	Het
Olfr714	T	C	7: 107,074,280	F151L	probably benign	Het
Plce1	T	C	19: 38,780,784		probably null	Het
Pmpca	C	A	2: 26,395,507	D498E	probably benign	Het
Pnpla7	G	T	2: 24,997,227	E28*	probably null	Het
Ptprt	C	T	2: 161,927,791		probably benign	Het
Slc7a14	T	C	3: 31,227,060	D367G	probably damaging	Het
Spata31	T	C	13: 64,922,098	Y687H	probably damaging	Het
Sybu	T	A	15: 44,672,993	T646S	probably benign	Het
Thbs1	A	T	2: 118,123,914		probably null	Het
Tie1	A	G	4: 118,489,701	V2A	possibly damaging	Het
Tma16	A	T	8: 66,476,805	I179K	possibly damaging	Het
Tns3	G	A	11: 8,435,856	Q1381*	probably null	Het
Trank1	A	G	9: 111,343,195	D84G	probably damaging	Het
Ttc3	A	T	16: 94,422,247	H197L	possibly damaging	Het
Urb1	A	G	16: 90,779,140	F843L	probably benign	Het
Vmn1r24	T	G	6: 57,956,018	I172L	probably benign	Het
Vmn2r1	T	A	3: 64,104,788	I690N	possibly damaging	Het
Vmn2r111	T	A	17: 22,572,072	I82L	probably benign	Het
Zfp287	A	T	11: 62,714,938	L370H	possibly damaging	Het
Zfp608	A	T	18: 54,898,816	I684N	probably benign	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
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
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'- CGGTCAAAGGAAACATTGTGCCC -3'
(R):5'- AAGGTCTCAGAGCTTGCTGCATAC -3'

Sequencing Primer
(F):5'- ATTGTGCCCCACCACTAACTG -3'
(R):5'- AGTCATAGCCGTTAGCTCTG -3'

Posted On

2013-05-09