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

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.953) question?

Stock #

R9145 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79736123-79746581 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 79740581 bp (GRCm38)

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: 128,559,069	H720L	probably benign	Het
Abca15	T	C	7: 120,388,165	Y1225H	probably benign	Het
Adck1	C	A	12: 88,368,423	N26K	probably benign	Het
Adcy3	A	G	12: 4,195,208	D382G	probably damaging	Het
Ahi1	T	A	10: 21,000,589	C800S	probably benign	Het
Ahnak	G	T	19: 9,014,923	V4524L	probably benign	Het
Apol11a	C	T	15: 77,513,578	A43V	probably benign	Het
Arid1a	T	C	4: 133,693,903	M479V	unknown	Het
Atp13a2	T	A	4: 140,996,745	C324S	probably damaging	Het
C2cd2	T	G	16: 97,876,286	T413P	probably damaging	Het
Cct5	A	C	15: 31,590,961	D531E		Het
Chst1	A	T	2: 92,614,178	I332F	probably damaging	Het
Col12a1	A	T	9: 79,620,062	V2662D	probably benign	Het
Cts3	A	G	13: 61,564,986	Y307H	probably benign	Het
D630023F18Rik	G	A	1: 65,121,212		probably benign	Het
Dhx9	A	G	1: 153,461,080	I807T	probably damaging	Het
Doxl2	C	A	6: 48,975,956	R272S	probably benign	Het
Exoc3l4	T	C	12: 111,422,152	L25P	probably benign	Het
Ggcx	T	A	6: 72,425,922	C288S	probably benign	Het
Gjb3	A	G	4: 127,326,347	Y131H	probably damaging	Het
Hdhd3	A	G	4: 62,499,337	S201P	probably benign	Het
Helz2	A	T	2: 181,240,055	V315E	probably damaging	Het
Hsp90aa1	A	G	12: 110,696,250		probably null	Het
Il12a	C	T	3: 68,691,542	R19W	unknown	Het
Isoc1	C	T	18: 58,673,275	A219V	possibly damaging	Het
Jup	T	A	11: 100,378,298	T430S	probably benign	Het
Klra5	C	T	6: 129,909,948	C39Y	probably benign	Het
Map4	A	T	9: 110,026,200	Q131L	probably damaging	Het
Mau2	T	A	8: 70,027,515	K314M	probably damaging	Het
Mga	A	G	2: 119,964,012	M2726V	probably benign	Het
Mgme1	G	A	2: 144,272,485		probably null	Het
Msrb2	A	G	2: 19,394,255	E143G	probably benign	Het
Muc5b	G	T	7: 141,857,613	C1432F	unknown	Het
Naglu	T	C	11: 101,071,114	Y138H	probably damaging	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nlrp1b	A	G	11: 71,218,367	Y103H	probably benign	Het
Nodal	A	G	10: 61,423,680	N299D	probably damaging	Het
Notch1	T	C	2: 26,459,575	T2518A	probably benign	Het
Nr2e1	A	C	10: 42,572,952	S97A	probably benign	Het
Nuak1	A	T	10: 84,374,723	S500R	probably benign	Het
Nxt2	C	T	X: 142,237,751	A118V	possibly damaging	Het
Nyap1	T	C	5: 137,737,913	E104G	probably benign	Het
Olfr401	C	T	11: 74,121,700	T137I	probably benign	Het
Olfr670	T	A	7: 104,959,997	H245L	probably damaging	Het
Palld	T	C	8: 61,877,073	T257A	probably benign	Het
Pcnx4	C	T	12: 72,556,269	P435L	probably damaging	Het
Piezo1	T	C	8: 122,482,014	T2538A	unknown	Het
Plagl1	T	C	10: 13,128,128	L380P	unknown	Het
Psg17	T	G	7: 18,819,926	D133A	probably benign	Het
Rab3b	G	A	4: 108,940,706	D185N	probably benign	Het
Ranbp2	T	A	10: 58,455,914	S248T	probably benign	Het
Rdh10	C	A	1: 16,129,206	A212D	probably damaging	Het
Rinl	A	G	7: 28,795,664	H154R		Het
Selenbp1	T	C	3: 94,944,103	M389T	probably benign	Het
Serpina1c	T	A	12: 103,896,141	H305L	possibly damaging	Het
Sh3rf2	T	A	18: 42,149,681	S467T		Het
Sipa1l1	A	G	12: 82,396,561	D875G	probably benign	Het
Slc10a6	A	T	5: 103,628,934	V100D	probably damaging	Het
Slc13a4	T	C	6: 35,270,355	I577V	possibly damaging	Het
Slc20a2	T	C	8: 22,540,431	F168L	probably benign	Het
Slc25a1	A	T	16: 17,927,244		probably null	Het
Slc5a12	A	G	2: 110,640,897	S495G	probably benign	Het
Smpdl3a	A	G	10: 57,800,932	D42G	possibly damaging	Het
Spag16	G	C	1: 70,381,300	L482F	probably damaging	Het
Susd5	G	A	9: 114,096,221	G391R	probably damaging	Het
Sync	G	T	4: 129,293,825	A217S		Het
Tha1	T	A	11: 117,868,686	N326Y	probably damaging	Het
Tjp1	A	T	7: 65,302,816	F1590Y	probably benign	Het
Tle4	T	C	19: 14,468,219	N221S	probably benign	Het
Tln1	T	C	4: 43,536,024	T2054A	probably damaging	Het
Ttc30a1	A	T	2: 75,980,079	Y553*	probably null	Het
Ttll4	A	G	1: 74,679,790	K267E	probably benign	Het
Usp32	C	T	11: 85,022,292	G930D	probably damaging	Het
Vmn2r75	T	C	7: 86,164,239	N452D	probably damaging	Het
Vmn2r81	T	C	10: 79,268,194	L217P	possibly damaging	Het
Wnt2	T	A	6: 18,030,398		probably benign	Het
Zfp459	C	T	13: 67,408,616	S116N	probably benign	Het
Zfp981	C	A	4: 146,537,953	T445N	possibly 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
R0379:Polrmt	UTSW	10	79737611	missense	possibly damaging	0.89
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
R9530:Polrmt	UTSW	10	79738711	missense	probably benign	0.12
R9710:Polrmt	UTSW	10	79740701	missense	probably benign	0.05
X0026:Polrmt	UTSW	10	79740740	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