Incidental Mutation 'R1017:Polrmt'
ID 96461
Institutional Source Beutler Lab
Gene Symbol Polrmt
Ensembl Gene ENSMUSG00000020329
Gene Name polymerase (RNA) mitochondrial (DNA directed)
Synonyms 1110018N15Rik
MMRRC Submission 039121-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # R1017 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 79571957-79582415 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 79579343 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 136 (W136*)
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: W136*
SMART Domains Protein: ENSMUSP00000020580
Gene: ENSMUSG00000020329
AA Change: W136*

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: W136*
SMART Domains Protein: ENSMUSP00000124936
Gene: ENSMUSG00000020329
AA Change: W136*

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 probably null
Transcript: ENSMUST00000162694
AA Change: W136*
SMART Domains Protein: ENSMUSP00000124556
Gene: ENSMUSG00000020329
AA Change: W136*

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162687
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 98.8%
  • 10x: 96.8%
  • 20x: 93.4%
Validation Efficiency 98% (47/48)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acrbp C T 6: 125,038,223 (GRCm39) probably benign Het
Ahnak A T 19: 8,987,907 (GRCm39) I3064F probably damaging Het
Arhgef10l C A 4: 140,242,617 (GRCm39) R884L probably damaging Het
Baiap2l2 A G 15: 79,145,443 (GRCm39) F317L probably benign Het
Brinp2 A T 1: 158,077,021 (GRCm39) I358N probably damaging Het
Ccin A G 4: 43,985,222 (GRCm39) D543G probably benign Het
Cdh23 T A 10: 60,167,572 (GRCm39) D1806V probably damaging Het
Cdh6 C T 15: 13,051,562 (GRCm39) R357Q probably benign Het
Cpa3 T C 3: 20,293,797 (GRCm39) M64V possibly damaging Het
Ctnnb1 T A 9: 120,779,794 (GRCm39) F74I probably damaging Het
Cyp7a1 A T 4: 6,272,307 (GRCm39) I302N probably damaging Het
Dnase1l2 C T 17: 24,661,446 (GRCm39) A56T probably benign Het
Dscam T A 16: 96,634,633 (GRCm39) D190V probably damaging Het
Fer1l4 T C 2: 155,891,398 (GRCm39) probably null Het
Fscb T A 12: 64,520,242 (GRCm39) D408V probably benign Het
Gm10306 A G 4: 94,444,957 (GRCm39) probably benign Het
Gon4l T A 3: 88,765,803 (GRCm39) M409K probably benign Het
Gsx2 T C 5: 75,237,923 (GRCm39) S292P probably damaging Het
Hira T A 16: 18,718,097 (GRCm39) probably null Het
Hoxa3 G T 6: 52,149,386 (GRCm39) probably null Het
Irak3 T C 10: 119,978,789 (GRCm39) E554G possibly damaging Het
Itgb3bp A G 4: 99,657,724 (GRCm39) probably benign Het
Kifc3 C T 8: 95,832,413 (GRCm39) D379N probably damaging Het
Lama5 A G 2: 179,837,213 (GRCm39) V1032A probably damaging Het
Lmln T G 16: 32,908,546 (GRCm39) I324R probably benign Het
Ltbp4 A G 7: 27,005,501 (GRCm39) S1547P possibly damaging Het
Mdga1 T A 17: 30,069,522 (GRCm39) T175S probably damaging Het
Mrps6 T A 16: 91,855,346 (GRCm39) L8* probably null Het
Mtmr11 A C 3: 96,071,794 (GRCm39) T203P probably damaging Het
Nat8f7 T C 6: 85,684,552 (GRCm39) D96G probably damaging Het
Obscn T C 11: 58,889,179 (GRCm39) E7531G unknown Het
Or2k2 A T 4: 58,785,115 (GRCm39) S202R probably damaging Het
Or8k25 A T 2: 86,243,855 (GRCm39) D180E probably damaging Het
Or8k27 A T 2: 86,275,772 (GRCm39) L185I probably benign Het
Osbpl6 A G 2: 76,380,063 (GRCm39) Y69C probably damaging Het
Raver1 T C 9: 20,990,886 (GRCm39) probably benign Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Rsl1d1 T C 16: 11,021,116 (GRCm39) K2E probably benign Het
Sik3 C T 9: 46,107,107 (GRCm39) T417I probably benign Het
Spdl1 T C 11: 34,710,117 (GRCm39) K388R possibly damaging Het
Tulp1 T C 17: 28,583,277 (GRCm39) R88G probably damaging Het
Vldlr A C 19: 27,218,733 (GRCm39) Y528S probably damaging Het
Zdhhc14 T A 17: 5,543,924 (GRCm39) L68H probably damaging Het
Zfp605 C T 5: 110,275,860 (GRCm39) T326I 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
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
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
Predicted Primers PCR Primer
(F):5'- AGTGCAGACGCAGCACTCAAAG -3'
(R):5'- TGCAGGAGTGGTTCATACCCTTCTC -3'

Sequencing Primer
(F):5'- AAGCCAGGAACTTCTGCTG -3'
(R):5'- CAGAGGGCACACCTGAGATG -3'
Posted On 2014-01-05