Incidental Mutation 'R4938:Polrmt'
ID 446604
Institutional Source Beutler Lab
Gene Symbol Polrmt
Ensembl Gene ENSMUSG00000020329
Gene Name polymerase (RNA) mitochondrial (DNA directed)
Synonyms 1110018N15Rik
MMRRC Submission 042537-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.954) question?
Stock # R4938 (G1)
Quality Score 61
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: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 99% (74/75)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl14ep G T 2: 106,799,663 (GRCm39) H59Q probably damaging Het
Atp6v0a4 T A 6: 38,055,749 (GRCm39) I321F possibly damaging Het
Cdr2l A G 11: 115,284,651 (GRCm39) D329G possibly damaging Het
Cep55 A G 19: 38,058,364 (GRCm39) E319G probably damaging Het
Cfhr2 C T 1: 139,741,265 (GRCm39) V237I probably benign Het
Clasrp A G 7: 19,318,703 (GRCm39) probably null Het
Col12a1 C A 9: 79,607,632 (GRCm39) E399* probably null Het
Cyp19a1 T A 9: 54,080,647 (GRCm39) I237F probably benign Het
Dnajc6 T G 4: 101,494,010 (GRCm39) N847K probably damaging Het
E330013P04Rik C G 19: 60,150,453 (GRCm39) noncoding transcript Het
Entpd2 A G 2: 25,289,429 (GRCm39) T304A probably benign Het
Etl4 A G 2: 20,803,460 (GRCm39) T779A probably benign Het
Fam107b A T 2: 3,773,907 (GRCm39) I35L probably benign Het
Fgg A T 3: 82,920,175 (GRCm39) Y318F probably benign Het
Fitm1 A C 14: 55,814,076 (GRCm39) T191P probably damaging Het
Fras1 A G 5: 96,924,583 (GRCm39) M3675V probably damaging Het
Fry C T 5: 150,401,454 (GRCm39) R731W probably damaging Het
Galnt17 A T 5: 131,335,237 (GRCm39) S68T probably benign Het
Glp2r G T 11: 67,648,419 (GRCm39) Y94* probably null Het
Grm1 C T 10: 10,812,257 (GRCm39) A256T probably damaging Het
Hoxd13 A G 2: 74,499,027 (GRCm39) Y125C probably benign Het
Hspa14 A T 2: 3,492,646 (GRCm39) I373K probably benign Het
Ifnlr1 A G 4: 135,432,593 (GRCm39) E343G probably benign Het
Ighv5-9 A G 12: 113,625,582 (GRCm39) S54P probably benign Het
Insyn2b G A 11: 34,352,231 (GRCm39) G91E probably damaging Het
Irf2bpl A G 12: 86,928,892 (GRCm39) S594P possibly damaging Het
Kcnq2 A G 2: 180,728,766 (GRCm39) S548P probably damaging Het
Lrp2 G A 2: 69,302,712 (GRCm39) R3006W probably damaging Het
Lrrc4c A T 2: 97,459,646 (GRCm39) I91F probably damaging Het
Mdh1b T C 1: 63,750,663 (GRCm39) D435G probably benign Het
Mettl3 A T 14: 52,537,184 (GRCm39) S182T probably damaging Het
Mllt6 A G 11: 97,569,233 (GRCm39) T862A probably benign Het
Mmp27 G T 9: 7,578,983 (GRCm39) R412I probably damaging Het
Mstn A G 1: 53,105,582 (GRCm39) N308S possibly damaging Het
Ncapg A G 5: 45,828,551 (GRCm39) T101A probably benign Het
Ngf C T 3: 102,427,790 (GRCm39) R180W probably damaging Het
Notch1 G A 2: 26,364,136 (GRCm39) Q862* probably null Het
Nsrp1 T C 11: 76,936,570 (GRCm39) D542G probably damaging Het
Nup214 C A 2: 31,873,171 (GRCm39) T255K probably benign Het
Or5b21 T A 19: 12,839,916 (GRCm39) M259K probably damaging Het
Or8b43 T A 9: 38,360,679 (GRCm39) D170E probably benign Het
Papln C T 12: 83,829,677 (GRCm39) P911S probably benign Het
Pdxdc1 A G 16: 13,693,933 (GRCm39) V163A probably benign Het
Plekhj1 A T 10: 80,633,609 (GRCm39) I76N probably damaging Het
Pnp2 A G 14: 51,201,025 (GRCm39) probably null Het
Polr3gl T C 3: 96,487,208 (GRCm39) E89G probably benign Het
Prss37 A G 6: 40,491,917 (GRCm39) I221T possibly damaging Het
Ptx4 C T 17: 25,342,139 (GRCm39) Q205* probably null Het
Qsox1 T C 1: 155,655,414 (GRCm39) E583G probably benign Het
Riok3 T A 18: 12,288,300 (GRCm39) N492K probably benign Het
Sec13 A G 6: 113,712,153 (GRCm39) W61R probably damaging Het
Slc20a2 T C 8: 23,051,221 (GRCm39) V418A possibly damaging Het
Smad9 G A 3: 54,696,651 (GRCm39) V239I probably benign Het
Stmn2 A G 3: 8,610,792 (GRCm39) E92G probably damaging Het
Taf1c A G 8: 120,325,537 (GRCm39) V775A probably benign Het
Thsd7a T A 6: 12,330,991 (GRCm39) I1384L probably benign Het
Tnxb A G 17: 34,932,606 (GRCm39) Y2275C probably damaging Het
Trmo G T 4: 46,382,388 (GRCm39) T243N probably benign Het
Tyrp1 C T 4: 80,758,883 (GRCm39) A252V probably damaging Het
Vasp T C 7: 18,991,642 (GRCm39) *376W probably null Het
Vmn1r231 T C 17: 21,110,613 (GRCm39) I101V possibly damaging Het
Zfp532 T C 18: 65,756,837 (GRCm39) S257P probably benign Het
Zfp563 G A 17: 33,324,683 (GRCm39) C426Y probably damaging Het
Zfp647 TGCACG TGCACGCACG 15: 76,795,244 (GRCm39) probably null Het
Zfp703 C A 8: 27,469,801 (GRCm39) H488Q probably damaging Het
Zfp964 A G 8: 70,116,758 (GRCm39) N452D possibly damaging Het
Zfyve28 A C 5: 34,390,698 (GRCm39) Y188D 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
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'- GACCTAGAGAGACGTTGCCAAC -3'
(R):5'- AGAGTATTTCTGCGCATGCTCTC -3'

Sequencing Primer
(F):5'- AGACGTTGCCAACTAGTGC -3'
(R):5'- GCGCATGCTCTCTTGCCG -3'
Posted On 2016-11-22