Mutagenetix > Incidental Mutation

Incidental Mutation 'R7505:Polrmt'

581738

Institutional Source

Beutler Lab

Gene Symbol

Polrmt

Ensembl Gene

ENSMUSG00000020329

Gene Name

polymerase (RNA) mitochondrial (DNA directed)

Synonyms

1110018N15Rik

MMRRC Submission

045578-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R7505 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79571957-79582415 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 79579010 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000020580 (fasta)

Gene Model

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

AlphaFold

Q8BKF1

Predicted Effect

probably null
Transcript: ENSMUST00000020580

SMART Domains

Protein: ENSMUSP00000020580
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	802	1207	5.6e-169	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000159016

SMART Domains

Protein: ENSMUSP00000124936
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	601	6.27e-50	SMART
low complexity region	629	640	N/A	INTRINSIC
Pfam:RNA_pol	727	1133	7.5e-157	PFAM

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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	T	A	15: 91,033,260 (GRCm39)	N719Y	possibly damaging	Het
Adamts2	T	C	11: 50,687,347 (GRCm39)	I1058T	probably benign	Het
Alb	T	A	5: 90,617,368 (GRCm39)	Y356N	probably damaging	Het
Ankrd52	A	G	10: 128,225,924 (GRCm39)	N971D	probably damaging	Het
Atp6v1c2	A	G	12: 17,347,724 (GRCm39)		probably null	Het
Atp6v1h	A	T	1: 5,194,561 (GRCm39)	I247L	probably benign	Het
Cacna1s	C	T	1: 136,013,187 (GRCm39)	R593*	probably null	Het
Cacna2d3	C	T	14: 28,767,501 (GRCm39)		probably null	Het
Cdh15	G	A	8: 123,575,231 (GRCm39)	G2D	probably benign	Het
Cebpe	G	T	14: 54,948,113 (GRCm39)	N243K	probably damaging	Het
Celf2	A	T	2: 6,629,511 (GRCm39)	M136K	probably damaging	Het
Cep290	A	G	10: 100,352,127 (GRCm39)	I778V	probably benign	Het
Col22a1	A	T	15: 71,671,248 (GRCm39)	C1592*	probably null	Het
Cpne2	A	T	8: 95,275,094 (GRCm39)	N34I	possibly damaging	Het
Cps1	A	G	1: 67,219,240 (GRCm39)	N860S	probably benign	Het
Disp2	T	G	2: 118,621,569 (GRCm39)	L767R	probably damaging	Het
Eif1ad19	A	T	12: 87,740,270 (GRCm39)	N96K	probably benign	Het
Evpl	A	G	11: 116,117,813 (GRCm39)		probably null	Het
F7	A	T	8: 13,078,745 (GRCm39)	N59Y	possibly damaging	Het
Fam98a	A	T	17: 75,845,233 (GRCm39)	H504Q	unknown	Het
Fbxo4	G	A	15: 4,000,903 (GRCm39)	R270C	probably benign	Het
Fcgbp	T	C	7: 27,789,099 (GRCm39)	V555A	probably damaging	Het
Fgf4	T	C	7: 144,415,498 (GRCm39)	V86A	possibly damaging	Het
Fpgt	G	T	3: 154,792,413 (GRCm39)	A538D	possibly damaging	Het
Gars1	A	G	6: 55,029,162 (GRCm39)	T181A	probably benign	Het
Gask1a	G	C	9: 121,805,483 (GRCm39)	G425R	probably benign	Het
Gbx2	A	G	1: 89,856,455 (GRCm39)	S312P	probably benign	Het
Gm29735	C	T	7: 141,710,327 (GRCm39)	C175Y	unknown	Het
Gm7995	A	G	14: 42,132,314 (GRCm39)	T49A		Het
Hnrnpk	A	G	13: 58,547,783 (GRCm39)	M27T	probably benign	Het
Idh3b	A	G	2: 130,126,147 (GRCm39)	S20P	probably benign	Het
Idh3b	G	C	2: 130,126,153 (GRCm39)	R18G	probably benign	Het
Ighg2b	T	A	12: 113,268,600 (GRCm39)	T354S		Het
Lrfn2	T	A	17: 49,403,479 (GRCm39)	M534K	probably benign	Het
Mcpt8	G	A	14: 56,320,548 (GRCm39)	A127V	probably benign	Het
Msi2	A	T	11: 88,304,743 (GRCm39)	N176K	possibly damaging	Het
Mtr	G	T	13: 12,236,362 (GRCm39)	D621E	probably benign	Het
Nlrp5	T	A	7: 23,106,925 (GRCm39)	I63N	probably benign	Het
Nol6	T	C	4: 41,120,352 (GRCm39)	D455G	probably damaging	Het
Nrde2	A	T	12: 100,098,757 (GRCm39)	S637T	probably benign	Het
Ntn4	G	T	10: 93,543,146 (GRCm39)	G291W	probably damaging	Het
Or13a28	C	A	7: 140,217,965 (GRCm39)	T117K	probably damaging	Het
Or4d10	T	A	19: 12,051,969 (GRCm39)	E9V	possibly damaging	Het
Otof	T	A	5: 30,528,364 (GRCm39)	T1865S	probably benign	Het
Plec	A	T	15: 76,065,394 (GRCm39)	S1559T	unknown	Het
Plekhm1	C	T	11: 103,270,855 (GRCm39)		probably null	Het
Plin4	T	A	17: 56,416,357 (GRCm39)	Q49L	possibly damaging	Het
Pramel16	A	G	4: 143,676,273 (GRCm39)	I277T	possibly damaging	Het
Pramel28	C	T	4: 143,691,556 (GRCm39)	C389Y	probably benign	Het
Rims1	T	C	1: 22,573,077 (GRCm39)	T375A	possibly damaging	Het
Ryr3	A	T	2: 112,542,774 (GRCm39)	M3145K	probably damaging	Het
S100a11	A	G	3: 93,433,339 (GRCm39)	K61R	probably benign	Het
Sar1a	A	G	10: 61,527,073 (GRCm39)	T164A	probably benign	Het
Sec31b	C	T	19: 44,532,146 (GRCm39)	A25T	probably damaging	Het
Smpd2	A	G	10: 41,363,350 (GRCm39)	V371A	probably benign	Het
Speer1g	T	A	5: 11,181,135 (GRCm39)	Y141N	possibly damaging	Het
Spg11	A	T	2: 121,905,832 (GRCm39)	L1271*	probably null	Het
Svep1	T	C	4: 58,115,862 (GRCm39)	T944A	possibly damaging	Het
Taf6	A	T	5: 138,178,207 (GRCm39)	C431*	probably null	Het
Tdrd6	A	G	17: 43,938,570 (GRCm39)	V826A	not run	Het
Tent4a	G	T	13: 69,655,047 (GRCm39)	P476T	probably damaging	Het
Tmem132a	A	G	19: 10,836,037 (GRCm39)	V831A	probably damaging	Het
Tnfrsf8	T	G	4: 144,995,685 (GRCm39)	D458A	probably damaging	Het
Trpv5	A	G	6: 41,651,590 (GRCm39)	I196T	probably damaging	Het
Ttn	T	A	2: 76,608,898 (GRCm39)	D17706V	probably damaging	Het
Uimc1	T	C	13: 55,223,444 (GRCm39)	Y276C	probably damaging	Het
Usp24	T	A	4: 106,236,276 (GRCm39)	I988K	probably damaging	Het
Vmn2r74	T	A	7: 85,606,279 (GRCm39)	R356*	probably null	Het
Wdr37	A	T	13: 8,869,971 (GRCm39)	H429Q	probably damaging	Het
Wwc2	A	T	8: 48,333,185 (GRCm39)	L277Q	probably damaging	Het
Zscan12	T	A	13: 21,552,756 (GRCm39)	N193K	possibly 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
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
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	79,573,717 (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'- TCAGAAGTCCTGCACAGAAC -3'
(R):5'- ACAAGAAGCTGGCTGGCTAC -3'

Sequencing Primer
(F):5'- AATGTGTTGACCAGGCTGCC -3'
(R):5'- GCTACCTGCAGCCAAGC -3'

Posted On

2019-10-17