Mutagenetix > Incidental Mutation

Incidental Mutation 'R4916:Polrmt'

380088

Institutional Source

Beutler Lab

Gene Symbol

Polrmt

Ensembl Gene

ENSMUSG00000020329

Gene Name

polymerase (RNA) mitochondrial (DNA directed)

Synonyms

1110018N15Rik

MMRRC Submission

042518-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R4916 (G1)

Quality Score

114

Status

Not validated

Chromosome

Chromosomal Location

79571957-79582415 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to G at 79582385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 1 (M1T)

Ref Sequence

ENSEMBL: ENSMUSP00000124556 (fasta)

Gene Model

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

AlphaFold

Q8BKF1

Predicted Effect

probably null
Transcript: ENSMUST00000020580
AA Change: M1T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000020580
Gene: ENSMUSG00000020329
AA Change: M1T

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 null
Transcript: ENSMUST00000159016
AA Change: M1T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000124936
Gene: ENSMUSG00000020329
AA Change: M1T

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: ENSMUST00000161375

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161765

Predicted Effect

probably null
Transcript: ENSMUST00000162694
AA Change: M1T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124556
Gene: ENSMUSG00000020329
AA Change: M1T

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

0.9682

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.0%

Validation Efficiency

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930595D18Rik	G	A	12: 111,141,369 (GRCm39)	Q19*	probably null	Het
6030468B19Rik	T	A	11: 117,697,092 (GRCm39)	C230*	probably null	Het
Adcy10	A	G	1: 165,345,815 (GRCm39)	E288G	probably damaging	Het
Adnp	T	A	2: 168,029,537 (GRCm39)	T51S	possibly damaging	Het
Agap3	C	A	5: 24,683,011 (GRCm39)	A464D	probably damaging	Het
Ago4	A	C	4: 126,400,635 (GRCm39)	C693G	probably damaging	Het
Ahi1	A	G	10: 20,860,303 (GRCm39)	R675G	probably damaging	Het
Amigo1	T	A	3: 108,094,981 (GRCm39)	L160Q	probably damaging	Het
Ankrd35	T	C	3: 96,591,438 (GRCm39)	S575P	probably benign	Het
Ano3	T	A	2: 110,601,365 (GRCm39)	T298S	possibly damaging	Het
Ap2b1	T	G	11: 83,281,532 (GRCm39)	F813V	probably damaging	Het
Aplnr	T	G	2: 84,967,261 (GRCm39)	F95L	probably damaging	Het
Apobec2	T	C	17: 48,730,153 (GRCm39)	E171G	probably benign	Het
Ascc1	A	G	10: 59,840,684 (GRCm39)	N15S	probably benign	Het
AY358078	T	A	14: 52,040,108 (GRCm39)	Y73N	unknown	Het
B3gnt8	C	A	7: 25,328,308 (GRCm39)	P246Q	probably damaging	Het
C2cd2l	T	C	9: 44,227,857 (GRCm39)	Q250R	probably damaging	Het
Camk2d	T	C	3: 126,577,624 (GRCm39)	Y180H	probably damaging	Het
Ccdc170	A	G	10: 4,468,971 (GRCm39)	E167G	probably damaging	Het
Cdcp3	T	A	7: 130,776,206 (GRCm39)		probably null	Het
Cdyl2	A	G	8: 117,305,926 (GRCm39)	M445T	probably damaging	Het
Clca3a1	T	C	3: 144,721,605 (GRCm39)	D322G	probably benign	Het
Cnot10	C	T	9: 114,458,202 (GRCm39)	M101I	possibly damaging	Het
Cntrl	C	T	2: 35,055,694 (GRCm39)	T1196M	probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dcaf6	T	C	1: 165,247,774 (GRCm39)	D153G	probably damaging	Het
Dennd2c	G	A	3: 103,039,140 (GRCm39)	G96E	probably benign	Het
Dhrs9	T	C	2: 69,231,752 (GRCm39)	F304S	probably damaging	Het
Dmxl1	T	C	18: 50,010,764 (GRCm39)	S974P	probably damaging	Het
Dnah6	T	C	6: 73,169,659 (GRCm39)		probably benign	Het
Dnah7c	T	C	1: 46,634,168 (GRCm39)	L1049P	probably damaging	Het
Dnajc2	T	C	5: 21,962,338 (GRCm39)	K621E	probably damaging	Het
Ehbp1	T	C	11: 22,096,592 (GRCm39)	D299G	probably benign	Het
Erap1	A	G	13: 74,794,647 (GRCm39)	E102G	probably benign	Het
Fasn	T	G	11: 120,707,472 (GRCm39)	N799T	probably benign	Het
Fbxl20	T	C	11: 98,019,186 (GRCm39)	D22G	probably damaging	Het
Fgfr1	T	C	8: 26,053,542 (GRCm39)		probably null	Het
Frzb	A	T	2: 80,276,871 (GRCm39)	I105N	probably damaging	Het
Gabrb1	T	A	5: 72,026,764 (GRCm39)	F55Y	probably damaging	Het
Gatd1	G	T	7: 140,989,010 (GRCm39)	C216*	probably null	Het
Gnl2	A	C	4: 124,937,485 (GRCm39)	N255T	probably damaging	Het
Golgb1	A	T	16: 36,736,480 (GRCm39)	Q1909L	probably benign	Het
Gpnmb	T	C	6: 49,028,904 (GRCm39)	L474P	probably damaging	Het
H60b	T	C	10: 22,163,115 (GRCm39)	V230A	possibly damaging	Het
Hmcn2	T	A	2: 31,250,992 (GRCm39)	V818D	probably damaging	Het
Irag2	C	A	6: 145,111,027 (GRCm39)	S277R	probably damaging	Het
Itprid1	C	T	6: 55,955,175 (GRCm39)	P928S	possibly damaging	Het
Jade2	G	T	11: 51,707,909 (GRCm39)	T768K	probably benign	Het
Kif28	T	C	1: 179,530,085 (GRCm39)	H692R	probably benign	Het
Kmt2b	T	C	7: 30,277,942 (GRCm39)	N1634S	probably damaging	Het
Knop1	A	G	7: 118,445,299 (GRCm39)	W222R	probably damaging	Het
Map1b	T	C	13: 99,569,808 (GRCm39)	D971G	unknown	Het
Mapk7	G	T	11: 61,384,475 (GRCm39)	T77K	probably damaging	Het
Mcm6	A	G	1: 128,276,714 (GRCm39)	L292P	probably damaging	Het
Megf8	T	C	7: 25,039,089 (GRCm39)	L900P	probably benign	Het
Meis1	G	A	11: 18,831,776 (GRCm39)	H421Y	possibly damaging	Het
Minar2	A	T	18: 59,205,277 (GRCm39)	I22F	probably damaging	Het
Mllt1	T	C	17: 57,206,813 (GRCm39)	T344A	probably benign	Het
Mta1	T	A	12: 113,100,160 (GRCm39)	S657T	probably benign	Het
Mtus1	C	A	8: 41,453,838 (GRCm39)	K998N	probably damaging	Het
Ncdn	G	A	4: 126,643,731 (GRCm39)	L364F	possibly damaging	Het
Ndufb7	T	C	8: 84,297,534 (GRCm39)	L63P	probably damaging	Het
Nfix	T	C	8: 85,498,458 (GRCm39)	I172V	probably benign	Het
Nos1	T	C	5: 118,085,635 (GRCm39)		probably null	Het
Nrp1	C	A	8: 129,229,285 (GRCm39)	S921*	probably null	Het
Oma1	T	C	4: 103,176,727 (GRCm39)		probably null	Het
Or3a1b	A	T	11: 74,012,705 (GRCm39)	I197F	probably benign	Het
Or5b106	T	A	19: 13,123,355 (GRCm39)	I223L	possibly damaging	Het
Pcp2	T	A	8: 3,675,534 (GRCm39)		probably benign	Het
Pdk4	T	A	6: 5,489,157 (GRCm39)	H250L	possibly damaging	Het
Phldb3	A	G	7: 24,323,716 (GRCm39)	H449R	probably benign	Het
Pip4k2c	T	C	10: 127,035,196 (GRCm39)	T391A	possibly damaging	Het
Ppfia2	G	C	10: 106,597,978 (GRCm39)	L180F	probably damaging	Het
Prkcg	T	G	7: 3,378,781 (GRCm39)	Y624*	probably null	Het
Psmg2	A	G	18: 67,781,926 (GRCm39)	E164G	probably damaging	Het
Rb1	A	T	14: 73,454,131 (GRCm39)	L589H	probably damaging	Het
Rcvrn	A	T	11: 67,586,591 (GRCm39)	I117F	probably damaging	Het
Rere	T	A	4: 150,703,601 (GRCm39)	W1528R	probably damaging	Het
Robo2	A	G	16: 73,695,803 (GRCm39)	S1447P	possibly damaging	Het
Scfd2	C	A	5: 74,623,319 (GRCm39)	G405W	probably damaging	Het
Scin	T	A	12: 40,119,373 (GRCm39)	I552F	possibly damaging	Het
Serpina3k	G	A	12: 104,309,269 (GRCm39)	V238M	probably damaging	Het
Slc1a6	G	A	10: 78,632,085 (GRCm39)	V304M	probably damaging	Het
Slc20a2	C	T	8: 23,051,020 (GRCm39)	S351L	probably damaging	Het
Slc31a2	T	C	4: 62,215,325 (GRCm39)	V124A	probably damaging	Het
Slc38a3	T	C	9: 107,533,426 (GRCm39)	N244S	probably benign	Het
Slc4a1	A	G	11: 102,243,279 (GRCm39)	V784A	probably damaging	Het
Slc6a5	T	C	7: 49,598,004 (GRCm39)	F623L	probably benign	Het
Slf2	T	G	19: 44,960,100 (GRCm39)	D1022E	probably damaging	Het
Slfn8	G	A	11: 82,907,704 (GRCm39)	H280Y	probably damaging	Het
Smpdl3a	A	T	10: 57,677,127 (GRCm39)	D45V	probably damaging	Het
Ssh3	T	C	19: 4,315,170 (GRCm39)	E342G	probably damaging	Het
Tacr1	A	T	6: 82,531,922 (GRCm39)	I273F	probably benign	Het
Tfg	T	A	16: 56,514,759 (GRCm39)		probably null	Het
Tmem179	A	G	12: 112,468,268 (GRCm39)	L71P	probably damaging	Het
Tmem63a	T	A	1: 180,794,086 (GRCm39)	I541N	probably benign	Het
Traj20	G	A	14: 54,436,924 (GRCm39)		probably benign	Het
Trappc13	A	T	13: 104,290,802 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Tulp1	A	G	17: 28,578,109 (GRCm39)	L310P	probably damaging	Het
Ube3d	A	G	9: 86,304,925 (GRCm39)	Y306H	probably damaging	Het
Urb1	A	T	16: 90,580,216 (GRCm39)	V649E	probably damaging	Het
Vps13d	A	G	4: 144,709,963 (GRCm39)	L4211P	probably damaging	Het
Vwa5b1	T	A	4: 138,321,573 (GRCm39)	I407F	possibly damaging	Het
Vwce	G	T	19: 10,624,243 (GRCm39)	C378F	probably damaging	Het
Zfp791	T	A	8: 85,837,580 (GRCm39)	I95L	probably benign	Het

Other mutations in Polrmt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00949:Polrmt	APN	10	79,573,431 (GRCm39)	splice site	probably null
IGL01145:Polrmt	APN	10	79,576,971 (GRCm39)	missense	probably benign	0.12
IGL01454:Polrmt	APN	10	79,579,517 (GRCm39)	missense	possibly damaging	0.60
IGL01511:Polrmt	APN	10	79,575,985 (GRCm39)	missense	probably benign	0.00
IGL01750:Polrmt	APN	10	79,575,680 (GRCm39)	missense	possibly damaging	0.84
IGL01766:Polrmt	APN	10	79,572,402 (GRCm39)	missense	possibly damaging	0.71
IGL01827:Polrmt	APN	10	79,573,954 (GRCm39)	missense	probably damaging	1.00
IGL02941:Polrmt	APN	10	79,573,092 (GRCm39)	splice site	probably benign
IGL02982:Polrmt	APN	10	79,574,182 (GRCm39)	missense	probably damaging	1.00
R0323:Polrmt	UTSW	10	79,577,832 (GRCm39)	missense	probably benign	0.41
R0379:Polrmt	UTSW	10	79,573,445 (GRCm39)	missense	possibly damaging	0.89
R0628:Polrmt	UTSW	10	79,574,979 (GRCm39)	missense	possibly damaging	0.89
R1017:Polrmt	UTSW	10	79,579,343 (GRCm39)	nonsense	probably null
R1846:Polrmt	UTSW	10	79,574,043 (GRCm39)	missense	probably damaging	1.00
R2082:Polrmt	UTSW	10	79,579,346 (GRCm39)	missense	probably benign	0.41
R2149:Polrmt	UTSW	10	79,576,109 (GRCm39)	nonsense	probably null
R2359:Polrmt	UTSW	10	79,572,396 (GRCm39)	missense	probably damaging	1.00
R4105:Polrmt	UTSW	10	79,577,567 (GRCm39)	missense	probably benign
R4381:Polrmt	UTSW	10	79,577,642 (GRCm39)	missense	possibly damaging	0.94
R4782:Polrmt	UTSW	10	79,575,357 (GRCm39)	missense	probably benign	0.04
R4902:Polrmt	UTSW	10	79,582,385 (GRCm39)	start codon destroyed	probably null	1.00
R4904:Polrmt	UTSW	10	79,582,385 (GRCm39)	start codon destroyed	probably null	1.00
R4938:Polrmt	UTSW	10	79,582,385 (GRCm39)	start codon destroyed	probably null	1.00
R4963:Polrmt	UTSW	10	79,582,385 (GRCm39)	start codon destroyed	probably null	1.00
R4964:Polrmt	UTSW	10	79,582,385 (GRCm39)	start codon destroyed	probably null	1.00
R4970:Polrmt	UTSW	10	79,572,421 (GRCm39)	missense	probably damaging	1.00
R5177:Polrmt	UTSW	10	79,573,310 (GRCm39)	missense	probably benign	0.04
R5484:Polrmt	UTSW	10	79,577,888 (GRCm39)	missense	probably damaging	1.00
R5820:Polrmt	UTSW	10	79,574,157 (GRCm39)	splice site	probably null
R5910:Polrmt	UTSW	10	79,579,331 (GRCm39)	missense	probably benign	0.03
R5928:Polrmt	UTSW	10	79,576,186 (GRCm39)	missense	probably damaging	1.00
R6550:Polrmt	UTSW	10	79,575,514 (GRCm39)	missense	probably damaging	1.00
R6979:Polrmt	UTSW	10	79,582,400 (GRCm39)	splice site	probably null
R7233:Polrmt	UTSW	10	79,581,619 (GRCm39)	splice site	probably null
R7323:Polrmt	UTSW	10	79,576,483 (GRCm39)	missense	probably benign
R7505:Polrmt	UTSW	10	79,579,010 (GRCm39)	critical splice donor site	probably null
R7505:Polrmt	UTSW	10	79,573,717 (GRCm39)	missense	probably benign	0.18
R7777:Polrmt	UTSW	10	79,575,022 (GRCm39)	missense	probably benign	0.03
R7891:Polrmt	UTSW	10	79,577,714 (GRCm39)	missense	probably damaging	1.00
R7962:Polrmt	UTSW	10	79,574,623 (GRCm39)	missense	probably damaging	0.97
R7993:Polrmt	UTSW	10	79,572,085 (GRCm39)	missense	probably damaging	1.00
R9145:Polrmt	UTSW	10	79,576,415 (GRCm39)	missense	probably benign	0.03
R9530:Polrmt	UTSW	10	79,574,545 (GRCm39)	missense	probably benign	0.12
R9710:Polrmt	UTSW	10	79,576,535 (GRCm39)	missense	probably benign	0.05
X0026:Polrmt	UTSW	10	79,576,574 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GACCTAGAGAGACGTTGCCAAC -3'
(R):5'- AGAGTATTTCTGCGCATGCTCTC -3'

Sequencing Primer
(F):5'- AGACGTTGCCAACTAGTGC -3'
(R):5'- GCGCATGCTCTCTTGCCG -3'

Posted On

2016-04-15