Mutagenetix > Incidental Mutation

Incidental Mutation 'R0638:Polg'

56813

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

038827-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0638 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79446231-79466362 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 79460148 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: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.5%

Validation Efficiency

99% (76/77)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	T	C	2: 111,200,418	E382G	probably damaging	Het
4932414N04Rik	C	A	2: 68,717,228	Q161K	probably benign	Het
Aatk	A	T	11: 120,009,922	L1216Q	probably damaging	Het
Aifm3	T	C	16: 17,503,671	F463L	possibly damaging	Het
Antxr2	C	T	5: 97,960,637	W338*	probably null	Het
Apc2	T	C	10: 80,304,967	S219P	probably damaging	Het
Arfgap3	A	T	15: 83,308,188		probably null	Het
Arrdc5	A	G	17: 56,300,020	V75A	possibly damaging	Het
Atg16l2	A	T	7: 101,300,110		probably null	Het
Cacna1i	A	G	15: 80,381,080	N1511S	possibly damaging	Het
Cad	T	C	5: 31,077,688	Y2095H	probably damaging	Het
Chia1	T	C	3: 106,128,437		probably benign	Het
Crybg2	A	G	4: 134,074,454	D975G	probably damaging	Het
Dagla	T	C	19: 10,254,883	I480V	probably damaging	Het
Efl1	C	T	7: 82,651,887	T33I	probably damaging	Het
Esp36	A	G	17: 38,417,169	F74L	probably benign	Het
Faim	T	C	9: 98,992,096		probably benign	Het
Fam83h	G	T	15: 76,003,927	H520Q	probably benign	Het
Fbn2	A	T	18: 58,045,374	C1931S	probably damaging	Het
Frs3	A	G	17: 47,701,656	D96G	probably benign	Het
Gbp4	A	G	5: 105,121,840	M374T	probably damaging	Het
Gimap1	C	T	6: 48,741,425		probably benign	Het
Gm10010	A	G	6: 128,200,613		noncoding transcript	Het
Gm10355	T	C	3: 101,306,898		noncoding transcript	Het
Gmip	C	T	8: 69,811,445		probably benign	Het
Gpc2	A	T	5: 138,278,534	F110Y	possibly damaging	Het
Ifi44l	C	T	3: 151,762,759	V45M	probably benign	Het
Il15	T	C	8: 82,343,261	E58G	probably damaging	Het
Kat2b	T	C	17: 53,644,743		probably benign	Het
Kcnh7	C	A	2: 62,777,510	V576L	probably benign	Het
Lrrc66	T	A	5: 73,615,473		probably benign	Het
Mical1	A	G	10: 41,482,239	E416G	probably benign	Het
Mroh3	A	G	1: 136,191,002	Y526H	probably damaging	Het
Mtx2	T	C	2: 74,869,290		probably benign	Het
Naip6	A	T	13: 100,300,528	Y496N	probably benign	Het
Nfyc	A	G	4: 120,768,884	S73P	probably benign	Het
Olfr1418	C	T	19: 11,855,123	V277M	probably damaging	Het
Olfr1418	A	C	19: 11,855,368	V195G	probably damaging	Het
Olfr382	T	A	11: 73,516,924	I92F	probably damaging	Het
Olfr810	T	A	10: 129,791,232	D119V	probably damaging	Het
Olfr995	A	G	2: 85,438,501	I219T	probably benign	Het
P2ry14	A	G	3: 59,115,448	V206A	probably benign	Het
Ptgs1	G	A	2: 36,240,856		probably benign	Het
Pus7l	A	G	15: 94,523,417	S671P	probably benign	Het
Ralgapa2	T	C	2: 146,342,192	T1547A	probably benign	Het
Rif1	T	C	2: 52,111,588	S1685P	probably benign	Het
Rnf213	T	C	11: 119,470,210	Y4452H	probably damaging	Het
Samd7	A	G	3: 30,756,521	D229G	probably benign	Het
Serpina3j	T	C	12: 104,314,819	S84P	possibly damaging	Het
Slc35d1	A	G	4: 103,213,244		probably benign	Het
Sorbs2	A	G	8: 45,796,310	D847G	probably damaging	Het
Sp110	A	C	1: 85,577,329	F434C	probably benign	Het
Steap4	T	C	5: 7,977,030		probably benign	Het
Tg	A	C	15: 66,717,208	T13P	probably damaging	Het
Timeless	T	A	10: 128,244,673	Y474*	probably null	Het
Tmem94	T	C	11: 115,792,060		probably null	Het
Trdmt1	G	A	2: 13,516,648		probably benign	Het
Trim23	T	C	13: 104,201,309	Y522H	probably benign	Het
Ttc13	A	T	8: 124,674,366	S624T	probably damaging	Het
Txnl1	A	G	18: 63,692,064		probably benign	Het
Unkl	T	C	17: 25,208,083		probably benign	Het
Usp54	T	A	14: 20,589,369		probably benign	Het
Vcam1	T	C	3: 116,117,259	K497E	possibly damaging	Het
Vmn1r49	C	A	6: 90,072,666	S118I	possibly damaging	Het
Vmn2r118	T	C	17: 55,608,466	K495E	probably benign	Het
Wrnip1	G	A	13: 32,821,090	C560Y	possibly damaging	Het
Xkr5	T	C	8: 18,933,547	R660G	probably benign	Het
Zfp280c	A	G	X: 48,548,703		probably benign	Het
Zfp707	G	A	15: 75,975,129	A291T	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
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

2013-07-11