Mutagenetix > Incidental Mutation

Incidental Mutation 'R0323:Polrmt'

25665

Institutional Source

Beutler Lab

Gene Symbol

Polrmt

Ensembl Gene

ENSMUSG00000020329

Gene Name

polymerase (RNA) mitochondrial (DNA directed)

Synonyms

1110018N15Rik

MMRRC Submission

038533-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R0323 (G1)

Quality Score

202

Status

Not validated

Chromosome

Chromosomal Location

79571957-79582415 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79577832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 287 (T287A)

Ref Sequence

ENSEMBL: ENSMUSP00000124936 (fasta)

Gene Model

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

AlphaFold

Q8BKF1

Predicted Effect

probably benign
Transcript: ENSMUST00000020580
AA Change: T287A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000020580
Gene: ENSMUSG00000020329
AA Change: T287A

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: ENSMUST00000159016
AA Change: T287A

PolyPhen 2 Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124936
Gene: ENSMUSG00000020329
AA Change: T287A

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: ENSMUST00000160838

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161098

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161375

Predicted Effect

probably benign
Transcript: ENSMUST00000161662

SMART Domains

Protein: ENSMUSP00000124230
Gene: ENSMUSG00000020329

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

probably benign
Transcript: ENSMUST00000162694
AA Change: T287A

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000124556
Gene: ENSMUSG00000020329
AA Change: T287A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162687

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161765

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162679

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 94.2%
20x: 86.1%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,446,674 (GRCm39)	T816S	possibly damaging	Het
4930527J03Rik	ACCC	ACC	1: 178,276,503 (GRCm38)		noncoding transcript	Het
4931429P17Rik	A	C	13: 48,114,493 (GRCm39)		noncoding transcript	Het
Abca13	A	C	11: 9,244,701 (GRCm39)	D2188A	probably benign	Het
Accsl	T	A	2: 93,691,425 (GRCm39)	Q351L	probably benign	Het
Acot6	A	C	12: 84,155,953 (GRCm39)	E300D	probably benign	Het
Adgre1	T	A	17: 57,751,060 (GRCm39)	I578N	probably benign	Het
Agbl4	T	C	4: 111,474,419 (GRCm39)	S403P	probably damaging	Het
Agps	T	A	2: 75,724,505 (GRCm39)	Y506*	probably null	Het
Appl1	A	T	14: 26,664,695 (GRCm39)	V446D	possibly damaging	Het
Arcn1	A	T	9: 44,670,356 (GRCm39)	I90N	probably damaging	Het
Aspscr1	G	A	11: 120,569,246 (GRCm39)	V15I	probably damaging	Het
Asxl2	A	G	12: 3,492,487 (GRCm39)	Y24C	probably damaging	Het
Atp8b1	A	G	18: 64,701,323 (GRCm39)	F345S	possibly damaging	Het
Barx1	A	G	13: 48,819,430 (GRCm39)	T243A	probably benign	Het
Bltp1	T	A	3: 36,997,331 (GRCm39)	C1129*	probably null	Het
Bmp2k	A	G	5: 97,235,682 (GRCm39)		probably benign	Het
Cacul1	A	G	19: 60,531,498 (GRCm39)	I257T	probably benign	Het
Chml	A	T	1: 175,514,650 (GRCm39)	F424I	probably benign	Het
Clcn1	A	T	6: 42,287,074 (GRCm39)	E710D	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cylc2	T	A	4: 51,228,477 (GRCm39)	S183T	unknown	Het
Dhtkd1	T	A	2: 5,919,699 (GRCm39)	M561L	probably benign	Het
Dnajc13	A	G	9: 104,034,091 (GRCm39)	S2188P	probably damaging	Het
Dyrk1b	C	A	7: 27,884,781 (GRCm39)	Q399K	probably benign	Het
Erc1	T	C	6: 119,597,289 (GRCm39)	K1003E	probably damaging	Het
Ezr	G	A	17: 7,022,164 (GRCm39)	Q105*	probably null	Het
Fam83d	T	A	2: 158,627,467 (GRCm39)	D385E	probably benign	Het
Fbn2	A	G	18: 58,178,389 (GRCm39)	C1950R	probably damaging	Het
Fbxo32	A	T	15: 58,047,605 (GRCm39)	I236N	probably damaging	Het
Fcgr1	T	C	3: 96,193,145 (GRCm39)	E284G	possibly damaging	Het
Foxe3	T	C	4: 114,782,805 (GRCm39)	N136D	probably damaging	Het
Fscn2	A	T	11: 120,258,837 (GRCm39)	I461F	probably damaging	Het
Fsip2	T	C	2: 82,816,240 (GRCm39)	I3991T	probably benign	Het
Galnt15	A	T	14: 31,770,042 (GRCm39)	H249L	probably damaging	Het
Gm10803	T	A	2: 93,394,415 (GRCm39)	Y62*	probably null	Het
Gm20730	G	A	6: 43,058,449 (GRCm39)		probably null	Het
Gm4841	A	G	18: 60,403,718 (GRCm39)	L125S	possibly damaging	Het
Gmpr2	A	G	14: 55,910,203 (GRCm39)	D11G	probably damaging	Het
Gucy1b1	T	A	3: 81,945,463 (GRCm39)		probably null	Het
Hhla1	C	A	15: 65,820,352 (GRCm39)	V133F	probably benign	Het
Hscb	T	C	5: 110,982,556 (GRCm39)	E177G	possibly damaging	Het
Hyal4	A	T	6: 24,756,193 (GRCm39)	N137I	probably benign	Het
Lcp2	A	G	11: 34,004,322 (GRCm39)	D53G	probably damaging	Het
Ldb3	G	A	14: 34,266,002 (GRCm39)	T531I	probably damaging	Het
Llgl2	A	G	11: 115,741,546 (GRCm39)	K559E	probably damaging	Het
Loxhd1	A	G	18: 77,456,833 (GRCm39)	I499V	probably benign	Het
Lrp2	T	C	2: 69,299,983 (GRCm39)	Y3023C	probably damaging	Het
Lrrc59	A	C	11: 94,534,248 (GRCm39)	T269P	probably damaging	Het
Lrriq1	A	T	10: 103,057,150 (GRCm39)	C217S	possibly damaging	Het
Mmrn2	A	T	14: 34,119,991 (GRCm39)	Q287L	probably damaging	Het
Mplkip	A	G	13: 17,871,565 (GRCm39)	I159V	possibly damaging	Het
Napg	C	T	18: 63,120,034 (GRCm39)	R149C	probably damaging	Het
Nrxn1	A	C	17: 91,008,170 (GRCm39)		probably null	Het
Or10ag60	G	A	2: 87,437,841 (GRCm39)	M36I	probably benign	Het
Or1e17	A	T	11: 73,831,773 (GRCm39)	I234F	probably benign	Het
Or6c70	T	A	10: 129,709,936 (GRCm39)	Q230L	probably damaging	Het
Or6d15	A	T	6: 116,559,562 (GRCm39)	V115E	probably damaging	Het
Or6n2	A	G	1: 173,896,893 (GRCm39)	T10A	probably benign	Het
Orc4	A	T	2: 48,827,479 (GRCm39)	V38E	possibly damaging	Het
Palm3	T	A	8: 84,755,349 (GRCm39)	V287D	probably damaging	Het
Pde11a	C	T	2: 75,877,118 (GRCm39)		probably null	Het
Pdss2	T	A	10: 43,248,172 (GRCm39)	H225Q	probably benign	Het
Pkhd1	A	T	1: 20,345,762 (GRCm39)	D2755E	probably benign	Het
Pla2g5	C	T	4: 138,527,967 (GRCm39)	D100N	probably benign	Het
Ppfia2	A	G	10: 106,732,281 (GRCm39)	I943V	possibly damaging	Het
Pth2r	A	C	1: 65,427,775 (GRCm39)	I483L	probably benign	Het
Qrsl1	A	G	10: 43,772,003 (GRCm39)		probably null	Het
Ralgapa1	A	T	12: 55,724,023 (GRCm39)	I1548N	probably damaging	Het
Scn9a	T	C	2: 66,398,475 (GRCm39)	E45G	probably damaging	Het
Sf3b1	T	C	1: 55,058,416 (GRCm39)	I58V	probably damaging	Het
Sh3d19	T	A	3: 86,033,978 (GRCm39)	M777K	probably benign	Het
Shc1	T	C	3: 89,331,020 (GRCm39)	L106P	probably damaging	Het
Skint5	T	C	4: 113,794,818 (GRCm39)	H255R	probably benign	Het
Slc28a3	C	A	13: 58,711,866 (GRCm39)	G487*	probably null	Het
Slc49a4	ACC	AC	16: 35,539,730 (GRCm39)		probably null	Het
Slfn4	A	T	11: 83,077,777 (GRCm39)	R188S	probably damaging	Het
Slitrk5	A	G	14: 111,919,055 (GRCm39)	D893G	probably damaging	Het
Spta1	A	G	1: 174,046,017 (GRCm39)	T1594A	probably damaging	Het
Srarp	G	A	4: 141,160,690 (GRCm39)	Q48*	probably null	Het
Srf	T	C	17: 46,860,415 (GRCm39)	T456A	possibly damaging	Het
Stx2	C	T	5: 129,065,967 (GRCm39)	V230I	probably benign	Het
Tenm4	C	A	7: 96,344,157 (GRCm39)	P250Q	possibly damaging	Het
Tnrc6c	A	G	11: 117,630,707 (GRCm39)	K1023E	probably damaging	Het
Trpc6	A	T	9: 8,610,276 (GRCm39)	H248L	probably damaging	Het
Trpc6	A	G	9: 8,643,537 (GRCm39)	K441E	probably damaging	Het
Uty	T	A	Y: 1,169,979 (GRCm39)	I326F	probably damaging	Het
Vmn1r63	A	G	7: 5,806,335 (GRCm39)	V99A	probably benign	Het
Wnt11	A	G	7: 98,496,590 (GRCm39)	K177E	probably damaging	Het
Wwc1	T	A	11: 35,743,175 (GRCm39)	E882V	probably damaging	Het
Zfhx2	C	A	14: 55,303,436 (GRCm39)	S1516I	possibly damaging	Het
Zmpste24	A	G	4: 120,940,050 (GRCm39)	Y199H	probably damaging	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
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
R4916: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'- TTCCAGGACCAGGTCAGTGAAGAG -3'
(R):5'- CAGAAAGATGCCCTGTGTCTCACC -3'

Sequencing Primer
(F):5'- TGCAAACTTAGCATGGGAGC -3'
(R):5'- CCTCCCAAATTACTGAGGATTTTAGG -3'

Posted On

2013-04-16