Mutagenetix > Incidental Mutations

Incidental Mutation 'R0379:Polrmt'

30878

Institutional Source

Beutler Lab

Gene Symbol

Polrmt

Ensembl Gene

ENSMUSG00000020329

Gene Name

polymerase (RNA) mitochondrial (DNA directed)

Synonyms

MMRRC Submission

038585-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.942) question?

Stock #

R0379 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79736123-79746581 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79737611 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1057 (S1057P)

Ref Sequence

ENSEMBL: ENSMUSP00000020580 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020580] [ENSMUST00000020581] [ENSMUST00000099513] [ENSMUST00000159016] [ENSMUST00000162694]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020580
AA Change: S1057P

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000020580
Gene: ENSMUSG00000020329
AA Change: S1057P

Domain	Start	End	E-Value	Type
low complexity region	37	45	N/A	INTRINSIC
low complexity region	159	168	N/A	INTRINSIC
low complexity region	175	189	N/A	INTRINSIC
low complexity region	326	339	N/A	INTRINSIC
RPOL_N	373	675	1.59e-92	SMART
low complexity region	703	714	N/A	INTRINSIC
Pfam:RNA_pol	802	1207	5.6e-169	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000020581

SMART Domains

Protein: ENSMUSP00000020581
Gene: ENSMUSG00000020331

Domain	Start	End	E-Value	Type
low complexity region	4	47	N/A	INTRINSIC
low complexity region	106	128	N/A	INTRINSIC
Pfam:Ion_trans_N	140	183	5e-23	PFAM
Pfam:Ion_trans	184	447	3.3e-24	PFAM
low complexity region	448	459	N/A	INTRINSIC
Blast:cNMP	460	492	9e-13	BLAST
cNMP	517	630	4.79e-22	SMART
low complexity region	727	765	N/A	INTRINSIC
low complexity region	778	800	N/A	INTRINSIC
low complexity region	804	838	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099513

SMART Domains

Protein: ENSMUSP00000097113
Gene: ENSMUSG00000020331

Domain	Start	End	E-Value	Type
low complexity region	4	47	N/A	INTRINSIC
low complexity region	106	128	N/A	INTRINSIC
Pfam:Ion_trans_N	139	215	2.6e-47	PFAM
Pfam:Ion_trans	219	435	1.5e-20	PFAM
low complexity region	448	459	N/A	INTRINSIC
Blast:cNMP	460	492	9e-13	BLAST
cNMP	517	630	4.79e-22	SMART
low complexity region	727	765	N/A	INTRINSIC
low complexity region	778	800	N/A	INTRINSIC
low complexity region	804	838	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159016
AA Change: S983P

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000124936
Gene: ENSMUSG00000020329
AA Change: S983P

Domain	Start	End	E-Value	Type
low complexity region	37	45	N/A	INTRINSIC
low complexity region	159	168	N/A	INTRINSIC
low complexity region	175	189	N/A	INTRINSIC
low complexity region	326	339	N/A	INTRINSIC
RPOL_N	373	601	6.27e-50	SMART
low complexity region	629	640	N/A	INTRINSIC
Pfam:RNA_pol	727	1133	7.5e-157	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159082

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159289

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160595

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160838

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161098

Predicted Effect

unknown
Transcript: ENSMUST00000161662
AA Change: S242P

SMART Domains

Protein: ENSMUSP00000124230
Gene: ENSMUSG00000020329
AA Change: S242P

Domain	Start	End	E-Value	Type
Pfam:RNA_pol	29	120	6.7e-39	PFAM
Pfam:RNA_pol	119	393	2.7e-100	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161765

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162679

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162687

Predicted Effect

probably benign
Transcript: ENSMUST00000162694

SMART Domains

Protein: ENSMUSP00000124556
Gene: ENSMUSG00000020329

Domain	Start	End	E-Value	Type
low complexity region	37	45	N/A	INTRINSIC
low complexity region	159	168	N/A	INTRINSIC
low complexity region	175	189	N/A	INTRINSIC
low complexity region	326	339	N/A	INTRINSIC
RPOL_N	373	675	1.59e-92	SMART
low complexity region	703	714	N/A	INTRINSIC
Pfam:RNA_pol	801	895	6.4e-34	PFAM

Meta Mutation Damage Score

0.1537

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.7%
20x: 90.9%

Validation Efficiency

98% (79/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial DNA-directed RNA polymerase. The gene product is responsible for mitochondrial gene expression as well as for providing RNA primers for initiation of replication of the mitochondrial genome. Although this polypeptide has the same function as the three nuclear DNA-directed RNA polymerases, it is more closely related to RNA polymerases of phage and mitochondrial polymerases of lower eukaryotes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation die before organogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	C	T	2: 130,785,546		probably benign	Het
4930512M02Rik	A	G	11: 11,589,365		probably benign	Het
Apba1	A	C	19: 23,934,830	N558T	probably damaging	Het
Arfgef2	T	A	2: 166,860,400		probably null	Het
Arsb	T	C	13: 93,940,627	S501P	probably benign	Het
Atp10b	A	G	11: 43,254,314	T1295A	probably benign	Het
Atp8b5	G	T	4: 43,361,898	R648L	probably damaging	Het
Bcl2a1b	T	C	9: 89,199,736	I126T	possibly damaging	Het
Brd9	T	C	13: 73,942,683		probably benign	Het
Cd93	T	C	2: 148,441,510		probably benign	Het
Chd5	A	G	4: 152,383,321	K1692R	probably benign	Het
Clcn4	T	C	7: 7,296,792	T13A	probably damaging	Het
Clec14a	A	G	12: 58,268,794	F14S	possibly damaging	Het
Clec4g	A	G	8: 3,718,440	V97A	probably benign	Het
Col24a1	G	A	3: 145,524,142	R1483K	possibly damaging	Het
Crem	A	T	18: 3,299,226	V82D	probably damaging	Het
Ctnna2	T	A	6: 77,641,440	T180S	probably benign	Het
Cybrd1	T	C	2: 71,129,755	I99T	probably benign	Het
Cyp4a32	G	A	4: 115,621,474	V468M	probably damaging	Het
Dlk1	A	G	12: 109,455,059		probably benign	Het
Dnah7b	A	T	1: 46,140,176	Y1003F	probably benign	Het
Egfem1	A	C	3: 29,668,250	E376A	possibly damaging	Het
Etl4	T	A	2: 20,807,354	I1416K	probably damaging	Het
Fbxl4	A	G	4: 22,386,106	T238A	probably benign	Het
Fer1l6	A	G	15: 58,548,338	I33M	probably benign	Het
Fndc3a	A	G	14: 72,556,609	S830P	probably damaging	Het
Fras1	C	T	5: 96,755,509	R3082*	probably null	Het
Galnt13	T	C	2: 55,060,492	V395A	possibly damaging	Het
Gm10334	T	G	6: 41,445,256		probably benign	Het
Gpd2	C	T	2: 57,345,263	T335I	probably damaging	Het
Gucy2d	C	A	7: 98,459,002		probably null	Het
Hydin	A	G	8: 110,509,127		probably benign	Het
Ints5	G	T	19: 8,897,133	V819L	possibly damaging	Het
Klhdc10	C	G	6: 30,450,670	Q292E	possibly damaging	Het
Lmbrd2	G	A	15: 9,149,479	A67T	probably benign	Het
Lrp1	T	G	10: 127,594,969	T404P	probably damaging	Het
March7	T	C	2: 60,234,126	S249P	probably benign	Het
Mcm10	T	A	2: 5,008,623	K66M	probably benign	Het
Mtmr7	C	A	8: 40,551,601	D645Y	probably damaging	Het
Muc6	T	A	7: 141,636,955	I2602F	possibly damaging	Het
Myh13	G	A	11: 67,369,295		probably benign	Het
Myo18a	G	A	11: 77,850,806	V1776I	possibly damaging	Het
Ncapg2	T	C	12: 116,443,075	L957S	probably damaging	Het
Ncoa3	T	C	2: 166,054,502	S442P	probably damaging	Het
Olfr1093	G	A	2: 86,785,735	E2K	probably benign	Het
Olfr850	T	A	9: 19,477,480	T257S	possibly damaging	Het
Olfr986	G	A	9: 40,187,433	G106D	probably damaging	Het
Pdcd6	G	T	13: 74,309,712	N113K	possibly damaging	Het
Pfkfb4	C	T	9: 109,027,742		probably benign	Het
Pfkm	A	G	15: 98,126,314	H401R	probably benign	Het
Phldb2	C	A	16: 45,781,451	D754Y	probably damaging	Het
Plekhb2	T	A	1: 34,863,114	M49K	probably damaging	Het
Prps1l1	A	G	12: 34,985,078	N64S	probably benign	Het
Psg16	T	C	7: 17,130,658	S393P	probably benign	Het
Rundc1	C	T	11: 101,425,147	T15I	probably benign	Het
Scaf11	A	G	15: 96,431,816	L143S	probably damaging	Het
Sephs1	A	G	2: 4,899,560	T250A	probably benign	Het
Serpinf1	T	G	11: 75,413,945	I197L	probably benign	Het
Siglec1	C	T	2: 131,074,525		probably benign	Het
Slc28a1	G	A	7: 81,138,177	V271I	probably benign	Het
Sntg1	T	C	1: 8,782,824	D34G	probably damaging	Het
Sptbn4	A	T	7: 27,359,736		probably benign	Het
Suclg1	T	C	6: 73,256,228	I51T	possibly damaging	Het
Syne1	C	T	10: 5,541,989	R9Q	probably damaging	Het
Trim47	T	A	11: 116,106,518	H470L	probably damaging	Het
Ttc41	T	A	10: 86,712,977	Y12N	possibly damaging	Het
Tubgcp2	T	C	7: 140,032,192	E69G	probably damaging	Het
Tubgcp3	G	A	8: 12,641,116	T474M	probably damaging	Het
Ubr5	A	T	15: 38,018,957	N777K	probably benign	Het
Ush2a	T	C	1: 188,451,819	L1440P	probably damaging	Het
Usp28	A	C	9: 49,024,067	D458A	possibly damaging	Het
Vcan	A	T	13: 89,703,546	D1098E	probably damaging	Het
Vmn1r73	C	T	7: 11,756,846	T197I	probably benign	Het
Vmn2r15	T	C	5: 109,286,478	S787G	probably damaging	Het
Vmn2r90	T	A	17: 17,728,139	I549N	probably damaging	Het
Vps33b	T	A	7: 80,283,414		probably null	Het
Zfp516	A	T	18: 82,987,670	K900*	probably null	Het
Zfp974	T	A	7: 27,910,932	N456I	probably damaging	Het

Other mutations in Polrmt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00949:Polrmt	APN	10	79737597	splice site	probably null
IGL01145:Polrmt	APN	10	79741137	missense	probably benign	0.12
IGL01454:Polrmt	APN	10	79743683	missense	possibly damaging	0.60
IGL01511:Polrmt	APN	10	79740151	missense	probably benign	0.00
IGL01750:Polrmt	APN	10	79739846	missense	possibly damaging	0.84
IGL01766:Polrmt	APN	10	79736568	missense	possibly damaging	0.71
IGL01827:Polrmt	APN	10	79738120	missense	probably damaging	1.00
IGL02941:Polrmt	APN	10	79737258	splice site	probably benign
IGL02982:Polrmt	APN	10	79738348	missense	probably damaging	1.00
R0323:Polrmt	UTSW	10	79741998	missense	probably benign	0.41
R0628:Polrmt	UTSW	10	79739145	missense	possibly damaging	0.89
R1017:Polrmt	UTSW	10	79743509	nonsense	probably null
R1846:Polrmt	UTSW	10	79738209	missense	probably damaging	1.00
R2082:Polrmt	UTSW	10	79743512	missense	probably benign	0.41
R2149:Polrmt	UTSW	10	79740275	nonsense	probably null
R2359:Polrmt	UTSW	10	79736562	missense	probably damaging	1.00
R4105:Polrmt	UTSW	10	79741733	missense	probably benign
R4381:Polrmt	UTSW	10	79741808	missense	possibly damaging	0.94
R4782:Polrmt	UTSW	10	79739523	missense	probably benign	0.04
R4902:Polrmt	UTSW	10	79746551	start codon destroyed	probably null	1.00
R4904:Polrmt	UTSW	10	79746551	start codon destroyed	probably null	1.00
R4916:Polrmt	UTSW	10	79746551	start codon destroyed	probably null	1.00
R4938:Polrmt	UTSW	10	79746551	start codon destroyed	probably null	1.00
R4963:Polrmt	UTSW	10	79746551	start codon destroyed	probably null	1.00
R4964:Polrmt	UTSW	10	79746551	start codon destroyed	probably null	1.00
R4970:Polrmt	UTSW	10	79736587	missense	probably damaging	1.00
R5177:Polrmt	UTSW	10	79737476	missense	probably benign	0.04
R5484:Polrmt	UTSW	10	79742054	missense	probably damaging	1.00
R5820:Polrmt	UTSW	10	79738323	splice site	probably null
R5910:Polrmt	UTSW	10	79743497	missense	probably benign	0.03
R5928:Polrmt	UTSW	10	79740352	missense	probably damaging	1.00
R6550:Polrmt	UTSW	10	79739680	missense	probably damaging	1.00
R6979:Polrmt	UTSW	10	79746566	splice site	probably null
R7233:Polrmt	UTSW	10	79745785	splice site	probably null
R7323:Polrmt	UTSW	10	79740649	missense	probably benign
R7505:Polrmt	UTSW	10	79737883	missense	probably benign	0.18
R7505:Polrmt	UTSW	10	79743176	critical splice donor site	probably null
R7777:Polrmt	UTSW	10	79739188	missense	probably benign	0.03
R7891:Polrmt	UTSW	10	79741880	missense	probably damaging	1.00
R7962:Polrmt	UTSW	10	79738789	missense	probably damaging	0.97
R7993:Polrmt	UTSW	10	79736251	missense	probably damaging	1.00
X0026:Polrmt	UTSW	10	79740740	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TCACTGACTCTCATCTACCGAGCTG -3'
(R):5'- GTTTGTCTGGGAAGCCTCACACTAC -3'

Sequencing Primer
(F):5'- TCATCTACCGAGCTGGTGAG -3'
(R):5'- GTCTACAGGAGATGTTCACCAGC -3'

Posted On

2013-04-24