Mutagenetix > Incidental Mutation

Incidental Mutation 'R2149:Polrmt'

234123

Institutional Source

Beutler Lab

Gene Symbol

Polrmt

Ensembl Gene

ENSMUSG00000020329

Gene Name

polymerase (RNA) mitochondrial (DNA directed)

Synonyms

MMRRC Submission

040152-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.953) question?

Stock #

R2149 (G1)

Quality Score

121

Status

Not validated

Chromosome

Chromosomal Location

79736123-79746581 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 79740275 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 545 (Q545*)

Ref Sequence

ENSEMBL: ENSMUSP00000124556 (fasta)

Gene Model

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

AlphaFold

Q8BKF1

Predicted Effect

probably null
Transcript: ENSMUST00000020580
AA Change: Q545*

SMART Domains

Protein: ENSMUSP00000020580
Gene: ENSMUSG00000020329
AA Change: Q545*

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

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

noncoding transcript
Transcript: ENSMUST00000159082

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159289

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160595

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

noncoding transcript
Transcript: ENSMUST00000161765

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162679

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162687

Predicted Effect

probably null
Transcript: ENSMUST00000162694
AA Change: Q545*

SMART Domains

Protein: ENSMUSP00000124556
Gene: ENSMUSG00000020329
AA Change: Q545*

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500015O10Rik	A	G	1: 43,742,336	D126G	probably damaging	Het
1700006A11Rik	T	C	3: 124,409,686	E414G	probably benign	Het
3632451O06Rik	T	C	14: 49,751,571	D647G	probably benign	Het
Abca12	C	A	1: 71,263,488	V2191L	probably benign	Het
Abca13	A	G	11: 9,267,508	T317A	possibly damaging	Het
Acap3	T	G	4: 155,905,625	L750R	probably damaging	Het
Anapc7	T	A	5: 122,443,826	S511T	probably benign	Het
Anp32a	T	A	9: 62,371,802	F46Y	probably benign	Het
Anxa2	TCCC	TCC	9: 69,489,754		probably null	Het
Arfgef1	C	T	1: 10,199,878	A349T	probably benign	Het
Arid2	T	C	15: 96,370,835	I943T	probably damaging	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
BC003331	A	T	1: 150,388,559	N66K	probably benign	Het
Btnl6	T	C	17: 34,514,347	N218S	possibly damaging	Het
Capn11	T	C	17: 45,633,107		probably null	Het
Clcnkb	C	T	4: 141,408,017	G470D	probably damaging	Het
Clic6	T	A	16: 92,499,207	S252T	probably benign	Het
Col28a1	T	C	6: 8,155,383	K318E	possibly damaging	Het
Col5a3	A	T	9: 20,771,270	V1626D	unknown	Het
Col6a4	C	A	9: 106,076,929	A404S	probably benign	Het
Cyp2j5	G	T	4: 96,641,340	H265N	possibly damaging	Het
Dennd3	A	T	15: 73,555,060	H762L	probably benign	Het
Dock2	A	G	11: 34,229,472		probably null	Het
Emilin2	T	C	17: 71,273,992	S580G	probably benign	Het
Fbn2	C	A	18: 58,102,325		probably null	Het
Gfm1	T	C	3: 67,474,560	L693P	probably damaging	Het
Glb1	T	C	9: 114,450,648	Y375H	probably damaging	Het
Gpha2	A	G	19: 6,226,982	T38A	probably damaging	Het
Gtf2h3	T	C	5: 124,599,785		probably benign	Het
Hmgxb3	T	C	18: 61,157,674	T376A	probably benign	Het
Hspa12b	A	G	2: 131,143,057	D416G	probably damaging	Het
Immt	C	T	6: 71,844,675	R28*	probably null	Het
Iqgap1	T	C	7: 80,762,560	Y180C	probably damaging	Het
Kcnq3	T	A	15: 66,023,729	D322V	probably damaging	Het
Kifc2	C	A	15: 76,662,221	L268I	probably benign	Het
Lama1	T	C	17: 67,773,865	M1296T	possibly damaging	Het
Lipk	A	G	19: 34,021,617	N104S	possibly damaging	Het
Lrrc14b	T	A	13: 74,363,757	N68I	possibly damaging	Het
Lrrc28	A	T	7: 67,531,682	D268E	probably damaging	Het
Ly6c2	T	C	15: 75,108,543	*132W	probably null	Het
Msh6	A	G	17: 87,986,088	E757G	probably damaging	Het
Mtss1l	T	C	8: 110,726,383	V47A	possibly damaging	Het
Muc2	CGTG	CGTGTG	7: 141,699,185		probably null	Het
Nalcn	A	T	14: 123,370,017	I680N	probably benign	Het
Nup214	C	T	2: 32,034,466	S1669F	probably damaging	Het
Olfr1501	A	C	19: 13,838,582	V197G	probably damaging	Het
Olfr61	C	T	7: 140,638,052	T117M	probably damaging	Het
Olfr713	A	T	7: 107,036,338	Y61F	possibly damaging	Het
Olfr912	T	C	9: 38,581,508	V77A	probably benign	Het
Oosp2	A	T	19: 11,649,614	L17*	probably null	Het
Parvb	A	G	15: 84,232,168	K33E	possibly damaging	Het
Pde4dip	T	A	3: 97,792,836	Q300L	possibly damaging	Het
Phf2	T	C	13: 48,804,689	K950E	unknown	Het
Pira2	G	A	7: 3,844,171	P124L	probably damaging	Het
Plpp4	C	T	7: 129,379,371	T157I	probably benign	Het
Ptprs	A	G	17: 56,417,706	F1511L	probably damaging	Het
Sbno1	T	C	5: 124,402,119		probably null	Het
Setd1a	T	A	7: 127,786,518	V256D	possibly damaging	Het
Slamf1	T	C	1: 171,767,272	S16P	probably damaging	Het
Slc16a14	T	C	1: 84,907,399	D473G	probably damaging	Het
Slc8a2	A	T	7: 16,159,164	H917L	probably damaging	Het
Sorbs2	A	C	8: 45,795,443	D442A	probably damaging	Het
Srp68	G	T	11: 116,260,867	T301K	possibly damaging	Het
Stab2	A	T	10: 86,865,040	C457*	probably null	Het
Stk31	T	G	6: 49,439,218	S652R	possibly damaging	Het
Stra6	T	G	9: 58,152,539	S594R	probably benign	Het
Tbc1d9	G	A	8: 83,271,449	E1212K	probably damaging	Het
Thada	C	T	17: 84,441,764	R593Q	probably damaging	Het
Tmem131	C	A	1: 36,812,609	V938L	probably benign	Het
Tmem132c	T	A	5: 127,462,962	W351R	probably damaging	Het
Tmem206	T	G	1: 191,345,109	F210V	probably benign	Het
Trim10	C	T	17: 36,877,014	A374V	probably benign	Het
Try10	T	C	6: 41,356,561	V80A	probably benign	Het
Ttn	T	C	2: 76,729,363	T29565A	possibly damaging	Het
Uggt2	G	T	14: 119,075,345	Q351K	probably benign	Het
Vmn1r120	A	T	7: 21,052,964	V274D	probably damaging	Het
Vmn1r62	A	T	7: 5,675,359	H13L	probably benign	Het
Vmn2r101	C	T	17: 19,588,963	T118I	probably benign	Het
Vmn2r114	ATTT	ATT	17: 23,290,932		probably null	Het
Vps51	A	G	19: 6,068,134	V777A	probably benign	Het
Wnt5a	A	G	14: 28,513,317	Y86C	probably damaging	Het
Xpa	T	C	4: 46,183,189	E200G	probably damaging	Het
Zc3h12a	C	T	4: 125,126,642	R136K	possibly damaging	Het
Zc3hav1	T	C	6: 38,336,537	H191R	probably damaging	Het
Zfp804a	A	G	2: 82,258,664	T946A	probably benign	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
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
R9145:Polrmt	UTSW	10	79740581	missense	probably benign	0.03
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'- ACTGATGTAACCCCTCCTGC -3'
(R):5'- TCTGACACCCAGGTAACGTG -3'

Sequencing Primer
(F):5'- AGACACCTGCTGCCCTATG -3'
(R):5'- CCAGGTAACGTGGGATGGACTTC -3'

Posted On

2014-10-01