Mutagenetix > Incidental Mutation

Incidental Mutation 'R9145:Polrmt'

694584

Institutional Source

Beutler Lab

Gene Symbol

Polrmt

Ensembl Gene

ENSMUSG00000020329

Gene Name

polymerase (RNA) mitochondrial (DNA directed)

Synonyms

1110018N15Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R9145 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79571957-79582415 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 79576415 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 514 (Q514K)

Ref Sequence

ENSEMBL: ENSMUSP00000020580 (fasta)

Gene Model

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

AlphaFold

Q8BKF1

Predicted Effect

probably benign
Transcript: ENSMUST00000020580
AA Change: Q514K

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000020580
Gene: ENSMUSG00000020329
AA Change: Q514K

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: Q514K

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000124936
Gene: ENSMUSG00000020329
AA Change: Q514K

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
AA Change: Q514K

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000124556
Gene: ENSMUSG00000020329
AA Change: Q514K

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

100% (79/79)

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
A2ml1	T	A	6: 128,536,032 (GRCm39)	H720L	probably benign	Het
Abca15	T	C	7: 119,987,388 (GRCm39)	Y1225H	probably benign	Het
Adck1	C	A	12: 88,335,193 (GRCm39)	N26K	probably benign	Het
Adcy3	A	G	12: 4,245,208 (GRCm39)	D382G	probably damaging	Het
Ahi1	T	A	10: 20,876,488 (GRCm39)	C800S	probably benign	Het
Ahnak	G	T	19: 8,992,287 (GRCm39)	V4524L	probably benign	Het
Aoc1l1	C	A	6: 48,952,890 (GRCm39)	R272S	probably benign	Het
Apol11a	C	T	15: 77,397,778 (GRCm39)	A43V	probably benign	Het
Arid1a	T	C	4: 133,421,214 (GRCm39)	M479V	unknown	Het
Atp13a2	T	A	4: 140,724,056 (GRCm39)	C324S	probably damaging	Het
C2cd2	T	G	16: 97,677,486 (GRCm39)	T413P	probably damaging	Het
Cct5	A	C	15: 31,591,107 (GRCm39)	D531E		Het
Chst1	A	T	2: 92,444,523 (GRCm39)	I332F	probably damaging	Het
Col12a1	A	T	9: 79,527,344 (GRCm39)	V2662D	probably benign	Het
Cts3	A	G	13: 61,712,800 (GRCm39)	Y307H	probably benign	Het
D630023F18Rik	G	A	1: 65,160,371 (GRCm39)		probably benign	Het
Dhx9	A	G	1: 153,336,826 (GRCm39)	I807T	probably damaging	Het
Exoc3l4	T	C	12: 111,388,586 (GRCm39)	L25P	probably benign	Het
Ggcx	T	A	6: 72,402,905 (GRCm39)	C288S	probably benign	Het
Gjb3	A	G	4: 127,220,140 (GRCm39)	Y131H	probably damaging	Het
Hdhd3	A	G	4: 62,417,574 (GRCm39)	S201P	probably benign	Het
Helz2	A	T	2: 180,881,848 (GRCm39)	V315E	probably damaging	Het
Hsp90aa1	A	G	12: 110,662,684 (GRCm39)		probably null	Het
Ift70a1	A	T	2: 75,810,423 (GRCm39)	Y553*	probably null	Het
Il12a	C	T	3: 68,598,875 (GRCm39)	R19W	unknown	Het
Isoc1	C	T	18: 58,806,347 (GRCm39)	A219V	possibly damaging	Het
Jup	T	A	11: 100,269,124 (GRCm39)	T430S	probably benign	Het
Klra5	C	T	6: 129,886,911 (GRCm39)	C39Y	probably benign	Het
Map4	A	T	9: 109,855,268 (GRCm39)	Q131L	probably damaging	Het
Mau2	T	A	8: 70,480,165 (GRCm39)	K314M	probably damaging	Het
Mga	A	G	2: 119,794,493 (GRCm39)	M2726V	probably benign	Het
Mgme1	G	A	2: 144,114,405 (GRCm39)		probably null	Het
Msrb2	A	G	2: 19,399,066 (GRCm39)	E143G	probably benign	Het
Muc5b	G	T	7: 141,411,350 (GRCm39)	C1432F	unknown	Het
Naglu	T	C	11: 100,961,940 (GRCm39)	Y138H	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nlrp1b	A	G	11: 71,109,193 (GRCm39)	Y103H	probably benign	Het
Nodal	A	G	10: 61,259,459 (GRCm39)	N299D	probably damaging	Het
Notch1	T	C	2: 26,349,587 (GRCm39)	T2518A	probably benign	Het
Nr2e1	A	C	10: 42,448,948 (GRCm39)	S97A	probably benign	Het
Nuak1	A	T	10: 84,210,587 (GRCm39)	S500R	probably benign	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Nyap1	T	C	5: 137,736,175 (GRCm39)	E104G	probably benign	Het
Or3a1b	C	T	11: 74,012,526 (GRCm39)	T137I	probably benign	Het
Or52e18	T	A	7: 104,609,204 (GRCm39)	H245L	probably damaging	Het
Palld	T	C	8: 62,330,107 (GRCm39)	T257A	probably benign	Het
Pcnx4	C	T	12: 72,603,043 (GRCm39)	P435L	probably damaging	Het
Piezo1	T	C	8: 123,208,753 (GRCm39)	T2538A	unknown	Het
Plagl1	T	C	10: 13,003,872 (GRCm39)	L380P	unknown	Het
Psg17	T	G	7: 18,553,851 (GRCm39)	D133A	probably benign	Het
Rab3b	G	A	4: 108,797,903 (GRCm39)	D185N	probably benign	Het
Ranbp2	T	A	10: 58,291,736 (GRCm39)	S248T	probably benign	Het
Rdh10	C	A	1: 16,199,430 (GRCm39)	A212D	probably damaging	Het
Rinl	A	G	7: 28,495,089 (GRCm39)	H154R		Het
Selenbp1	T	C	3: 94,851,414 (GRCm39)	M389T	probably benign	Het
Serpina1c	T	A	12: 103,862,400 (GRCm39)	H305L	possibly damaging	Het
Sh3rf2	T	A	18: 42,282,746 (GRCm39)	S467T		Het
Sipa1l1	A	G	12: 82,443,335 (GRCm39)	D875G	probably benign	Het
Slc10a6	A	T	5: 103,776,800 (GRCm39)	V100D	probably damaging	Het
Slc13a4	T	C	6: 35,247,290 (GRCm39)	I577V	possibly damaging	Het
Slc20a2	T	C	8: 23,030,447 (GRCm39)	F168L	probably benign	Het
Slc25a1	A	T	16: 17,745,108 (GRCm39)		probably null	Het
Slc5a12	A	G	2: 110,471,242 (GRCm39)	S495G	probably benign	Het
Smpdl3a	A	G	10: 57,677,028 (GRCm39)	D42G	possibly damaging	Het
Spag16	G	C	1: 70,420,459 (GRCm39)	L482F	probably damaging	Het
Susd5	G	A	9: 113,925,289 (GRCm39)	G391R	probably damaging	Het
Sync	G	T	4: 129,187,618 (GRCm39)	A217S		Het
Tha1	T	A	11: 117,759,512 (GRCm39)	N326Y	probably damaging	Het
Tjp1	A	T	7: 64,952,564 (GRCm39)	F1590Y	probably benign	Het
Tle4	T	C	19: 14,445,583 (GRCm39)	N221S	probably benign	Het
Tln1	T	C	4: 43,536,024 (GRCm39)	T2054A	probably damaging	Het
Ttll4	A	G	1: 74,718,949 (GRCm39)	K267E	probably benign	Het
Usp32	C	T	11: 84,913,118 (GRCm39)	G930D	probably damaging	Het
Vmn2r75	T	C	7: 85,813,447 (GRCm39)	N452D	probably damaging	Het
Vmn2r81	T	C	10: 79,104,028 (GRCm39)	L217P	possibly damaging	Het
Wnt2	T	A	6: 18,030,397 (GRCm39)		probably benign	Het
Zfp459	C	T	13: 67,556,735 (GRCm39)	S116N	probably benign	Het
Zfp981	C	A	4: 146,622,410 (GRCm39)	T445N	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	79,579,010 (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
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'- ATTCCCAGTACTCCCGAGGAAG -3'
(R):5'- TTGCACCTCAGGTTCTGAAGG -3'

Sequencing Primer
(F):5'- TGCCCACGTTTTCCAGAGG -3'
(R):5'- ACCTCAGGTTCTGAAGGTCCTG -3'

Posted On

2022-01-20