Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02982:Polrmt'

406583

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Polrmt

Ensembl Gene

ENSMUSG00000020329

Gene Name

polymerase (RNA) mitochondrial (DNA directed)

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

IGL02982

Quality Score

Status

Chromosome

Chromosomal Location

79736123-79746581 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79738348 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 853 (Y853H)

Ref Sequence

ENSEMBL: ENSMUSP00000124936 (fasta)

Gene Model

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

AlphaFold

Q8BKF1

Predicted Effect

probably damaging
Transcript: ENSMUST00000020580
AA Change: Y927H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020580
Gene: ENSMUSG00000020329
AA Change: Y927H

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 damaging
Transcript: ENSMUST00000159016
AA Change: Y853H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124936
Gene: ENSMUSG00000020329
AA Change: Y853H

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

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 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

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	G	T	8: 24,804,431	A384D	probably benign	Het
Adamts19	T	A	18: 59,024,518	C961S	probably damaging	Het
Agbl2	G	A	2: 90,805,815	C565Y	probably damaging	Het
Aox3	G	A	1: 58,127,687	E190K	probably benign	Het
Arf2	T	G	11: 103,981,776	D74E	probably damaging	Het
Bptf	T	G	11: 107,076,674	D960A	probably damaging	Het
Ccdc180	G	T	4: 45,903,840		probably benign	Het
Ces1a	A	G	8: 93,044,975	F65L	probably damaging	Het
Def8	T	C	8: 123,456,539		probably benign	Het
Fat4	T	C	3: 38,890,843	L1295P	probably damaging	Het
Filip1l	A	G	16: 57,572,232	H1061R	probably damaging	Het
Fut2	C	T	7: 45,650,769	G193E	possibly damaging	Het
Gldc	A	G	19: 30,145,145		probably null	Het
Gm597	T	C	1: 28,778,054	H299R	probably damaging	Het
Golgb1	A	C	16: 36,925,810	D2917A	probably damaging	Het
Gpc5	G	A	14: 115,369,988	C334Y	probably damaging	Het
Gpsm1	T	A	2: 26,324,859	L252Q	probably damaging	Het
Iars	C	T	13: 49,709,709	R546C	probably benign	Het
Kbtbd8	G	T	6: 95,126,566	V399L	probably benign	Het
Kcnd2	A	T	6: 21,217,149	D284V	probably damaging	Het
Kcnj6	T	C	16: 94,832,517	K227R	possibly damaging	Het
Lhx9	A	T	1: 138,838,611	H155Q	probably damaging	Het
Mcm9	A	G	10: 53,625,826	V221A	probably damaging	Het
Myo9a	A	T	9: 59,908,208	K2237*	probably null	Het
Ntf3	A	T	6: 126,102,377	D55E	probably damaging	Het
Olfr1229	G	T	2: 89,283,109	T29K	probably damaging	Het
Olfr61	A	T	7: 140,637,952	I84F	probably benign	Het
Plek	T	A	11: 16,981,826	I342F	probably damaging	Het
Psg29	A	G	7: 17,211,707	T401A	probably damaging	Het
Ptprb	A	G	10: 116,322,628	T822A	probably benign	Het
Ptprq	A	C	10: 107,586,684	F1616V	probably damaging	Het
Rpe65	T	A	3: 159,600,361	V19E	probably damaging	Het
Scamp2	G	A	9: 57,581,549	A178T	probably benign	Het
Spta1	A	G	1: 174,187,288	I445V	probably benign	Het
Tas2r135	A	G	6: 42,406,253	E242G	probably benign	Het
Ttc22	T	C	4: 106,638,586	V379A	probably damaging	Het
Unc5d	C	T	8: 28,652,853	G857E	probably damaging	Het
Usp28	A	G	9: 49,018,439	I43V	probably benign	Het
Vmn2r68	A	T	7: 85,234,441	M152K	probably benign	Het
Wrn	C	T	8: 33,343,066	G133R	probably damaging	Het
Zfyve26	G	A	12: 79,263,870	T187M	probably damaging	Het
Zic2	A	G	14: 122,478,567	E367G	probably 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
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
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

Posted On

2016-08-02