Incidental Mutation 'IGL01454:Polrmt'
ID 84727
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Polrmt
Ensembl Gene ENSMUSG00000020329
Gene Name polymerase (RNA) mitochondrial (DNA directed)
Synonyms 1110018N15Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # IGL01454
Quality Score
Status
Chromosome 10
Chromosomal Location 79571957-79582415 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79579517 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 78 (E78G)
Ref Sequence ENSEMBL: ENSMUSP00000124556 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020580] [ENSMUST00000159016] [ENSMUST00000162694]
AlphaFold Q8BKF1
Predicted Effect probably benign
Transcript: ENSMUST00000020580
AA Change: E78G

PolyPhen 2 Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000020580
Gene: ENSMUSG00000020329
AA Change: E78G

DomainStartEndE-ValueType
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: ENSMUST00000159016
AA Change: E78G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000124936
Gene: ENSMUSG00000020329
AA Change: E78G

DomainStartEndE-ValueType
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: ENSMUST00000161375
Predicted Effect probably benign
Transcript: ENSMUST00000161662
SMART Domains Protein: ENSMUSP00000124230
Gene: ENSMUSG00000020329

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000162694
AA Change: E78G

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000124556
Gene: ENSMUSG00000020329
AA Change: E78G

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162679
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: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap25 G A 6: 87,473,058 (GRCm39) A33V possibly damaging Het
BC004004 T C 17: 29,512,995 (GRCm39) S140P possibly damaging Het
Cul3 T C 1: 80,281,900 (GRCm39) D26G probably damaging Het
Dnah17 A T 11: 117,949,223 (GRCm39) F2929I probably damaging Het
Gm21560 A G 14: 6,216,286 (GRCm38) F186L probably benign Het
Krt32 C T 11: 99,974,907 (GRCm39) E347K probably damaging Het
Mtarc1 A G 1: 184,539,377 (GRCm39) L98P probably damaging Het
Myh8 T C 11: 67,174,422 (GRCm39) I223T probably damaging Het
Nr4a3 T A 4: 48,067,803 (GRCm39) D466E probably damaging Het
Plxnb1 A T 9: 108,942,422 (GRCm39) D1757V probably damaging Het
Pnpt1 T C 11: 29,087,142 (GRCm39) I167T probably benign Het
Pparg A G 6: 115,416,900 (GRCm39) D31G probably damaging Het
Tiparp G T 3: 65,460,030 (GRCm39) G442* probably null Het
Trio T C 15: 27,833,071 (GRCm39) I104V probably benign Het
Vgll4 A G 6: 114,840,957 (GRCm39) V113A probably benign Het
Vmn2r4 A T 3: 64,313,816 (GRCm39) N388K probably damaging Het
Zscan20 T C 4: 128,483,334 (GRCm39) E445G probably benign Het
Other mutations in Polrmt
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2013-11-11