Mutagenetix > Incidental Mutation

Incidental Mutation 'R5121:Polg'

500884

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

042709-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5121 (G1)

Quality Score

206

Status

Not 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: 98.3%
10x: 96.1%
20x: 91.7%

Validation Efficiency

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1c	A	G	2: 58,171,662 (GRCm39)	I234T	probably damaging	Het
Adam24	A	G	8: 41,132,550 (GRCm39)	E6G	probably damaging	Het
Amz1	A	G	5: 140,729,919 (GRCm39)	D151G	probably benign	Het
Arhgap24	T	C	5: 102,989,201 (GRCm39)	L10P	probably damaging	Het
Arhgap25	T	G	6: 87,509,846 (GRCm39)	N8T	probably benign	Het
Arsi	T	G	18: 61,050,511 (GRCm39)	F465V	probably damaging	Het
Atp2c1	A	G	9: 105,326,024 (GRCm39)	V293A	probably damaging	Het
Bzw2	A	G	12: 36,154,350 (GRCm39)	L340P	probably damaging	Het
Camkmt	C	T	17: 85,404,009 (GRCm39)	T77I	probably benign	Het
Camsap1	G	T	2: 25,825,562 (GRCm39)	Q1375K	probably benign	Het
Catsper2	G	T	2: 121,227,604 (GRCm39)		probably null	Het
Cd163	T	C	6: 124,294,948 (GRCm39)	C671R	probably damaging	Het
Cdk7	T	C	13: 100,854,192 (GRCm39)		probably null	Het
Cfi	C	T	3: 129,666,726 (GRCm39)	P483L	probably damaging	Het
Chn2	C	T	6: 54,195,546 (GRCm39)	L72F	possibly damaging	Het
Cimip4	C	T	15: 78,270,373 (GRCm39)	E132K	probably benign	Het
Cntn2	C	A	1: 132,444,798 (GRCm39)	E363*	probably null	Het
Crebbp	T	C	16: 3,911,375 (GRCm39)	E999G	probably damaging	Het
Cspp1	T	A	1: 10,196,688 (GRCm39)	N900K	probably damaging	Het
Cts3	A	C	13: 61,715,409 (GRCm39)	I141M	probably benign	Het
Cwc27	A	T	13: 104,940,861 (GRCm39)	V166D	probably damaging	Het
Defb26	T	C	2: 152,350,085 (GRCm39)	E65G	possibly damaging	Het
Dnah8	A	G	17: 31,029,327 (GRCm39)	T4099A	probably benign	Het
Eml6	A	G	11: 29,694,606 (GRCm39)	F1953L	probably benign	Het
Etl4	T	A	2: 20,344,922 (GRCm39)		probably null	Het
Fbln1	A	G	15: 85,121,872 (GRCm39)	E331G	probably damaging	Het
Gabra4	G	A	5: 71,729,546 (GRCm39)	H76Y	probably benign	Het
Gcat	T	C	15: 78,919,482 (GRCm39)	V149A	probably damaging	Het
Glp2r	A	T	11: 67,612,926 (GRCm39)		probably null	Het
Gm572	T	C	4: 148,751,302 (GRCm39)		probably null	Het
Golgb1	T	C	16: 36,739,620 (GRCm39)	V2653A	probably damaging	Het
Grap2	G	A	15: 80,530,345 (GRCm39)	R155Q	possibly damaging	Het
Gspt1	T	A	16: 11,041,165 (GRCm39)	I533L	probably damaging	Het
Gypa	A	T	8: 81,222,977 (GRCm39)	Y27F	unknown	Het
Hipk4	G	A	7: 27,228,917 (GRCm39)	V456I	probably benign	Het
Homer2	A	T	7: 81,299,311 (GRCm39)	D51E	probably benign	Het
Hspa1b	A	T	17: 35,176,980 (GRCm39)	V335E	possibly damaging	Het
Ift122	A	G	6: 115,889,495 (GRCm39)	T827A	probably benign	Het
Igkv1-35	T	C	6: 69,988,119 (GRCm39)	N58S	probably benign	Het
Kat6b	A	T	14: 21,669,326 (GRCm39)	H297L	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
Lrrn1	G	T	6: 107,546,168 (GRCm39)	R655S	possibly damaging	Het
Ltk	T	C	2: 119,583,708 (GRCm39)	N256D	probably damaging	Het
Mill2	G	A	7: 18,590,591 (GRCm39)	G209S	probably benign	Het
Mmp27	A	T	9: 7,581,369 (GRCm39)	H544L	probably benign	Het
Mphosph10	A	G	7: 64,039,344 (GRCm39)	S209P	probably damaging	Het
Mphosph8	A	T	14: 56,914,003 (GRCm39)	K415*	probably null	Het
Myb	T	A	10: 21,002,137 (GRCm39)	M616L	probably benign	Het
Myo15b	C	T	11: 115,776,880 (GRCm39)	R867W	probably damaging	Het
Myo18b	A	T	5: 113,022,346 (GRCm39)		probably benign	Het
Nip7	A	G	8: 107,783,589 (GRCm39)	E8G	possibly damaging	Het
Optn	T	A	2: 5,050,917 (GRCm39)	I155F	probably benign	Het
Or2f1b	T	A	6: 42,739,931 (GRCm39)	L315*	probably null	Het
Or4f62	A	T	2: 111,986,631 (GRCm39)	M112L	possibly 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
Or6b6	T	C	7: 106,571,438 (GRCm39)	I38V	probably benign	Het
Papolb	A	T	5: 142,514,592 (GRCm39)	H350Q	probably benign	Het
Pappa2	T	A	1: 158,666,197 (GRCm39)	M1128L	probably benign	Het
Pcdhb5	T	A	18: 37,454,170 (GRCm39)	N183K	probably benign	Het
Pde12	G	T	14: 26,390,577 (GRCm39)	S44*	probably null	Het
Peg3	T	C	7: 6,713,288 (GRCm39)	K645E	probably benign	Het
Pkd1	C	T	17: 24,792,437 (GRCm39)	R1375C	probably benign	Het
Plekha5	G	A	6: 140,525,200 (GRCm39)	E21K	probably damaging	Het
Plk2	C	T	13: 110,535,958 (GRCm39)	P554L	probably benign	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Ppcdc	A	G	9: 57,328,446 (GRCm39)	V65A	possibly damaging	Het
Ppm1m	T	A	9: 106,073,004 (GRCm39)	Q353L	probably benign	Het
Ppp1r13l	G	C	7: 19,104,020 (GRCm39)	R167P	probably damaging	Het
Ppp1r9b	T	A	11: 94,887,479 (GRCm39)	V497E	probably damaging	Het
Prpf6	T	A	2: 181,277,836 (GRCm39)	H399Q	probably benign	Het
Psg25	T	A	7: 18,260,461 (GRCm39)	I146F	possibly damaging	Het
Rasgef1c	A	T	11: 49,851,256 (GRCm39)	Q116L	probably damaging	Het
Rbbp9	A	G	2: 144,392,676 (GRCm39)	V8A	possibly damaging	Het
Rfk	T	C	19: 17,376,930 (GRCm39)	F144S	probably damaging	Het
Rfwd3	A	C	8: 112,009,385 (GRCm39)		probably null	Het
Rhpn1	T	C	15: 75,581,109 (GRCm39)	I117T	probably damaging	Het
Sars2	A	T	7: 28,447,333 (GRCm39)	N244Y	probably damaging	Het
Scnn1b	A	T	7: 121,502,110 (GRCm39)	H256L	probably benign	Het
Sgcz	G	A	8: 38,006,821 (GRCm39)	T195I	probably damaging	Het
Sh3gl2	T	A	4: 85,297,494 (GRCm39)	H157Q	probably benign	Het
Spen	T	A	4: 141,203,410 (GRCm39)	Q1739L	probably benign	Het
Susd1	G	T	4: 59,379,657 (GRCm39)	S323R	possibly damaging	Het
Szt2	T	C	4: 118,242,641 (GRCm39)	E1482G	possibly damaging	Het
Tex15	A	T	8: 34,061,794 (GRCm39)	K408I	probably damaging	Het
Trem1	T	A	17: 48,539,864 (GRCm39)	F14L	probably null	Het
Trim26	G	T	17: 37,161,958 (GRCm39)	E126*	probably null	Het
Trpv3	T	C	11: 73,168,660 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,746,835 (GRCm39)		probably null	Het
Ubap1	C	T	4: 41,379,688 (GRCm39)	L301F	probably benign	Het
Uchl1	T	C	5: 66,833,780 (GRCm39)	M12T	probably benign	Het
Vill	C	T	9: 118,899,093 (GRCm39)	T253I	possibly damaging	Het
Vmn2r107	C	T	17: 20,576,015 (GRCm39)	T115I	probably benign	Het
Vmn2r98	T	C	17: 19,273,815 (GRCm39)	S21P	probably benign	Het
Wapl	A	G	14: 34,399,119 (GRCm39)	K63E	probably benign	Het
Wnt2	T	C	6: 18,023,125 (GRCm39)	K175E	possibly damaging	Het
Zfp592	T	C	7: 80,673,309 (GRCm39)	L91P	probably damaging	Het
Zfp74	T	C	7: 29,631,932 (GRCm39)		probably null	Het
Zglp1	A	T	9: 20,973,957 (GRCm39)	I243N	probably benign	Het
Zranb1	A	G	7: 132,551,916 (GRCm39)	E215G	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
R4888:Polg	UTSW	7	79,114,353 (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
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'- GGTCTCTCAGTCTGTCTCAAACAC -3'
(R):5'- AGAGCCTGCCTTACTTGGAG -3'

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

Posted On

2017-12-01