Incidental Mutation 'R6550:Polrmt'
ID 521523
Institutional Source Beutler Lab
Gene Symbol Polrmt
Ensembl Gene ENSMUSG00000020329
Gene Name polymerase (RNA) mitochondrial (DNA directed)
Synonyms 1110018N15Rik
MMRRC Submission 044675-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # R6550 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 79571957-79582415 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 79575514 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 672 (Q672H)
Ref Sequence ENSEMBL: ENSMUSP00000124556 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020580] [ENSMUST00000020581] [ENSMUST00000099513] [ENSMUST00000159016] [ENSMUST00000162694]
AlphaFold Q8BKF1
Predicted Effect probably damaging
Transcript: ENSMUST00000020580
AA Change: Q672H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020580
Gene: ENSMUSG00000020329
AA Change: Q672H

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: ENSMUST00000020581
SMART Domains Protein: ENSMUSP00000020581
Gene: ENSMUSG00000020331

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000159016
AA Change: Q598H

PolyPhen 2 Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000124936
Gene: ENSMUSG00000020329
AA Change: Q598H

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: ENSMUST00000159289
Predicted Effect probably damaging
Transcript: ENSMUST00000162694
AA Change: Q672H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124556
Gene: ENSMUSG00000020329
AA Change: Q672H

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: ENSMUST00000161765
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160838
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162687
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162679
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: ENSMUST00000160595
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161098
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 98% (39/40)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apbb1ip A G 2: 22,748,245 (GRCm39) D355G probably damaging Het
Asz1 T C 6: 18,051,380 (GRCm39) D433G probably damaging Het
Atl3 A G 19: 7,499,503 (GRCm39) T256A probably benign Het
Atp8b4 T A 2: 126,266,113 (GRCm39) T183S probably damaging Het
Bahcc1 C T 11: 120,167,477 (GRCm39) H1293Y possibly damaging Het
Bin2 A G 15: 100,543,358 (GRCm39) V243A probably benign Het
Camta1 A C 4: 151,222,832 (GRCm39) F908L probably damaging Het
Cbx2 T C 11: 118,919,851 (GRCm39) V472A possibly damaging Het
Cd22 T C 7: 30,576,977 (GRCm39) D110G probably benign Het
Cfap69 A T 5: 5,631,220 (GRCm39) D764E probably benign Het
Col2a1 A G 15: 97,874,674 (GRCm39) I1321T unknown Het
Cyp2c67 G T 19: 39,605,854 (GRCm39) Y347* probably null Het
D630044L22Rik A T 17: 26,180,628 (GRCm39) R66S possibly damaging Het
Defa27 A C 8: 21,806,340 (GRCm39) R46S possibly damaging Het
E330034G19Rik A G 14: 24,346,886 (GRCm39) M58V probably benign Het
Efhb G T 17: 53,728,968 (GRCm39) H574N probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Erlin1 A T 19: 44,025,602 (GRCm39) probably null Het
Gm10912 C T 2: 103,896,996 (GRCm39) T45I possibly damaging Het
Hsh2d C A 8: 72,952,297 (GRCm39) T156K probably benign Het
Lrrc49 G T 9: 60,584,430 (GRCm39) Q139K probably benign Het
Map3k21 A G 8: 126,664,031 (GRCm39) S531G probably damaging Het
Mcm2 A G 6: 88,863,941 (GRCm39) probably null Het
Mtarc2 C A 1: 184,551,539 (GRCm39) R299L probably damaging Het
Myo9a T C 9: 59,775,482 (GRCm39) F1031S probably damaging Het
Or1o1 G A 17: 37,716,796 (GRCm39) R119H probably benign Het
Or2n1d C T 17: 38,646,896 (GRCm39) P283S possibly damaging Het
Pmfbp1 T C 8: 110,246,839 (GRCm39) V237A possibly damaging Het
Pp2d1 T C 17: 53,822,604 (GRCm39) D154G probably damaging Het
Rars1 T C 11: 35,724,010 (GRCm39) I57V probably benign Het
Selplg G A 5: 113,958,210 (GRCm39) P32L probably benign Het
Slc8b1 A G 5: 120,662,082 (GRCm39) E257G probably damaging Het
Spata31e3 G A 13: 50,399,482 (GRCm39) P948L probably benign Het
Tasor2 A G 13: 3,640,519 (GRCm39) V206A possibly damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tmem87b T A 2: 128,666,385 (GRCm39) H77Q possibly damaging Het
Tpr C T 1: 150,299,728 (GRCm39) L1200F probably damaging Het
Trir G T 8: 85,756,549 (GRCm39) V154L probably damaging Het
Wdfy3 A G 5: 102,101,032 (GRCm39) V195A probably benign Het
Zdhhc5 T C 2: 84,526,685 (GRCm39) I96V 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
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
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'- TTCCGCAGCTCAGACTTGTG -3'
(R):5'- TTCACGCACCTGCTAGAGAC -3'

Sequencing Primer
(F):5'- AGCTCAGACTTGTGCACTG -3'
(R):5'- TGACCTTCGAGACCACGGAAG -3'
Posted On 2018-06-06