Incidental Mutation 'R4963:Polrmt'
ID 383730
Institutional Source Beutler Lab
Gene Symbol Polrmt
Ensembl Gene ENSMUSG00000020329
Gene Name polymerase (RNA) mitochondrial (DNA directed)
Synonyms 1110018N15Rik
MMRRC Submission 042560-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # R4963 (G1)
Quality Score 85
Status Validated
Chromosome 10
Chromosomal Location 79571957-79582415 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to G at 79582385 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 1 (M1T)
Ref Sequence ENSEMBL: ENSMUSP00000124556 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020580] [ENSMUST00000159016] [ENSMUST00000162694]
AlphaFold Q8BKF1
Predicted Effect probably null
Transcript: ENSMUST00000020580
AA Change: M1T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000020580
Gene: ENSMUSG00000020329
AA Change: M1T

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 null
Transcript: ENSMUST00000159016
AA Change: M1T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000124936
Gene: ENSMUSG00000020329
AA Change: M1T

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 noncoding transcript
Transcript: ENSMUST00000161765
Predicted Effect probably null
Transcript: ENSMUST00000162694
AA Change: M1T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124556
Gene: ENSMUSG00000020329
AA Change: M1T

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
Meta Mutation Damage Score 0.9682 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency 97% (74/76)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A T 17: 48,470,582 (GRCm39) I133N probably benign Het
Abca15 T C 7: 119,960,142 (GRCm39) S642P probably damaging Het
Abcg5 G T 17: 84,967,569 (GRCm39) Y410* probably null Het
Anapc7 T A 5: 122,560,669 (GRCm39) M10K probably damaging Het
Ank2 G A 3: 126,825,745 (GRCm39) T418M probably benign Het
Arhgap17 T C 7: 122,907,583 (GRCm39) R260G possibly damaging Het
Atp1a3 T C 7: 24,694,051 (GRCm39) T381A probably damaging Het
Cep89 T G 7: 35,102,577 (GRCm39) S97A probably benign Het
Cyp2j11 T C 4: 96,204,619 (GRCm39) D309G probably damaging Het
Dcbld2 T C 16: 58,286,145 (GRCm39) I768T probably benign Het
Defa41 C T 8: 21,691,774 (GRCm39) S52F probably damaging Het
Dgke A G 11: 88,941,628 (GRCm39) V249A possibly damaging Het
Dnah9 T C 11: 65,975,437 (GRCm39) probably null Het
Dnajc3 C A 14: 119,215,585 (GRCm39) H502N probably benign Het
Dsp A G 13: 38,381,846 (GRCm39) T2265A probably damaging Het
Enpp6 A G 8: 47,518,496 (GRCm39) D208G probably benign Het
Evc C T 5: 37,479,393 (GRCm39) probably null Het
Fam98a A G 17: 75,845,977 (GRCm39) S285P probably damaging Het
Glp2r G T 11: 67,648,419 (GRCm39) Y94* probably null Het
Gsdmc A G 15: 63,676,229 (GRCm39) probably null Het
Gtpbp4 C A 13: 9,035,253 (GRCm39) D369Y probably damaging Het
H2-M1 A G 17: 36,982,630 (GRCm39) Y77H probably benign Het
Irx2 T C 13: 72,780,729 (GRCm39) V466A possibly damaging Het
Kcnh4 C A 11: 100,643,079 (GRCm39) W396L probably damaging Het
Kif27 T C 13: 58,476,808 (GRCm39) D614G possibly damaging Het
Kirrel2 C A 7: 30,150,226 (GRCm39) probably null Het
Lcn5 A G 2: 25,551,426 (GRCm39) I182V probably benign Het
Ldb3 T G 14: 34,288,815 (GRCm39) S252R probably damaging Het
Marchf8 G A 6: 116,363,232 (GRCm39) probably benign Het
Mdn1 C A 4: 32,756,512 (GRCm39) Q4735K probably benign Het
Mfrp A T 9: 44,014,561 (GRCm39) H236L probably benign Het
Mlph A G 1: 90,867,112 (GRCm39) D378G probably damaging Het
Msi1 T A 5: 115,588,944 (GRCm39) Y320N probably damaging Het
Mtmr11 T C 3: 96,070,567 (GRCm39) probably benign Het
Mtpap T C 18: 4,375,638 (GRCm39) V6A probably benign Het
Nedd1 C A 10: 92,530,893 (GRCm39) D399Y probably damaging Het
Ninl A G 2: 150,781,829 (GRCm39) Y234H probably benign Het
Nkx3-1 G A 14: 69,428,367 (GRCm39) G72S probably benign Het
Nle1 A G 11: 82,795,763 (GRCm39) V228A probably benign Het
Npy4r T A 14: 33,868,973 (GRCm39) D105V probably damaging Het
Or1f12 A G 13: 21,722,152 (GRCm39) Y8H probably damaging Het
Palld C T 8: 62,156,244 (GRCm39) V464M probably damaging Het
Pclo T C 5: 14,719,235 (GRCm39) V1124A unknown Het
Pex1 T A 5: 3,659,924 (GRCm39) M476K probably benign Het
Pkhd1l1 G A 15: 44,367,421 (GRCm39) S773N probably benign Het
Prmt9 A G 8: 78,282,358 (GRCm39) D85G probably damaging Het
Ptpn12 T A 5: 21,220,706 (GRCm39) probably null Het
Rbm19 T A 5: 120,279,631 (GRCm39) M766K probably damaging Het
Rdh11 A G 12: 79,235,380 (GRCm39) V72A probably benign Het
Rxfp3 A G 15: 11,036,367 (GRCm39) V335A probably damaging Het
Sema6a T C 18: 47,431,318 (GRCm39) K127E possibly damaging Het
Slc5a1 C T 5: 33,318,126 (GRCm39) T593I probably benign Het
Slco1a1 A G 6: 141,868,825 (GRCm39) F380L probably benign Het
Smc2 T C 4: 52,450,826 (GRCm39) S215P probably damaging Het
Smyd2 A T 1: 189,614,385 (GRCm39) V381E probably damaging Het
Smyd4 C T 11: 75,273,120 (GRCm39) S60L probably benign Het
Spata18 T A 5: 73,836,336 (GRCm39) V419E probably damaging Het
Terb1 A G 8: 105,208,950 (GRCm39) L376S probably damaging Het
Timd2 T C 11: 46,573,617 (GRCm39) E129G possibly damaging Het
Topbp1 C A 9: 103,197,804 (GRCm39) T461K probably benign Het
Tpp2 G A 1: 44,031,428 (GRCm39) R1069Q probably damaging Het
Ttn A G 2: 76,584,289 (GRCm39) V22273A probably damaging Het
Tulp4 G A 17: 6,249,088 (GRCm39) E36K probably damaging Het
Uqcrfs1 A T 13: 30,724,746 (GRCm39) F265I probably damaging Het
Vmn2r107 A T 17: 20,595,403 (GRCm39) Q652L probably damaging Het
Vwf C T 6: 125,644,446 (GRCm39) R2434* probably null Het
Wdhd1 A G 14: 47,506,146 (GRCm39) V256A possibly damaging Het
Zfp442 A T 2: 150,250,415 (GRCm39) C439S probably damaging Het
Zfp709 A G 8: 72,643,632 (GRCm39) T354A probably benign Het
Zswim2 A T 2: 83,755,454 (GRCm39) I149N probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- GACCTAGAGAGACGTTGCCAAC -3'
(R):5'- AGAGTATTTCTGCGCATGCTCTC -3'

Sequencing Primer
(F):5'- AGACGTTGCCAACTAGTGC -3'
(R):5'- GCGCATGCTCTCTTGCCG -3'
Posted On 2016-04-27