Incidental Mutation 'R5910:Polrmt'
ID 460934
Institutional Source Beutler Lab
Gene Symbol Polrmt
Ensembl Gene ENSMUSG00000020329
Gene Name polymerase (RNA) mitochondrial (DNA directed)
Synonyms 1110018N15Rik
MMRRC Submission 044107-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # R5910 (G1)
Quality Score 176
Status Validated
Chromosome 10
Chromosomal Location 79571957-79582415 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79579331 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 140 (L140P)
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: L140P

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000020580
Gene: ENSMUSG00000020329
AA Change: L140P

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: L140P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000124936
Gene: ENSMUSG00000020329
AA Change: L140P

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 benign
Transcript: ENSMUST00000162694
AA Change: L140P

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000124556
Gene: ENSMUSG00000020329
AA Change: L140P

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: ENSMUST00000162687
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162679
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.0%
  • 20x: 90.5%
Validation Efficiency 95% (93/98)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,645,076 (GRCm39) N976D probably damaging Het
Adamts1 G A 16: 85,599,037 (GRCm39) R188W probably benign Het
Adcy4 A T 14: 56,016,470 (GRCm39) V327D probably damaging Het
Alg8 T C 7: 97,039,493 (GRCm39) I408T possibly damaging Het
Ankib1 T C 5: 3,743,217 (GRCm39) S933G probably benign Het
Ap2a2 A G 7: 141,178,691 (GRCm39) D106G probably damaging Het
Arhgap22 A T 14: 33,088,572 (GRCm39) H351L probably damaging Het
Arhgef2 A G 3: 88,542,327 (GRCm39) Y310C probably damaging Het
Atm A T 9: 53,359,380 (GRCm39) S2804R probably damaging Het
Baz2b A G 2: 59,807,770 (GRCm39) L163P possibly damaging Het
Bcl2l12 C T 7: 44,645,967 (GRCm39) probably null Het
Cdh23 A G 10: 60,213,600 (GRCm39) V1495A possibly damaging Het
Cep78 A G 19: 15,946,492 (GRCm39) S447P possibly damaging Het
Cfap43 G A 19: 47,768,710 (GRCm39) T778I possibly damaging Het
Cfap54 A T 10: 92,901,043 (GRCm39) N170K probably damaging Het
Cmya5 A T 13: 93,229,151 (GRCm39) L1979Q probably damaging Het
Col15a1 A T 4: 47,289,514 (GRCm39) E846D probably damaging Het
Col5a1 A G 2: 27,926,900 (GRCm39) K308E possibly damaging Het
Dcst1 T A 3: 89,257,731 (GRCm39) T680S possibly damaging Het
Dsp T C 13: 38,376,445 (GRCm39) L1410P possibly damaging Het
Edem3 T A 1: 151,646,578 (GRCm39) probably null Het
Efcab3 A T 11: 104,581,760 (GRCm39) E34V probably benign Het
Eif4e2 T A 1: 87,148,696 (GRCm39) Y64N probably damaging Het
Fcgbp C T 7: 27,784,928 (GRCm39) probably benign Het
Gm7275 A T 16: 47,893,826 (GRCm39) noncoding transcript Het
Grin3b G T 10: 79,808,855 (GRCm39) V202L probably benign Het
Gsdmc4 G A 15: 63,767,101 (GRCm39) S223F possibly damaging Het
H2bc14 A G 13: 21,906,470 (GRCm39) N68S probably benign Het
Hbp1 T C 12: 31,987,651 (GRCm39) H183R probably benign Het
Hectd3 A G 4: 116,859,331 (GRCm39) M652V probably benign Het
Hmgxb4 T C 8: 75,726,193 (GRCm39) F13L probably benign Het
Hnrnpab T C 11: 51,492,281 (GRCm39) K271R probably benign Het
Ilvbl A T 10: 78,412,947 (GRCm39) K156N probably benign Het
Iqce A T 5: 140,687,973 (GRCm39) probably benign Het
Itpr2 C A 6: 146,231,069 (GRCm39) V1194L probably benign Het
Kif18b A G 11: 102,804,370 (GRCm39) F384L probably benign Het
Klf14 A G 6: 30,934,774 (GRCm39) Y287H probably benign Het
Klhl6 A G 16: 19,775,844 (GRCm39) M238T probably benign Het
Lbp G A 2: 158,166,477 (GRCm39) V344I probably benign Het
Lrp12 T C 15: 39,739,439 (GRCm39) probably null Het
Mapk7 T A 11: 61,384,447 (GRCm39) M1L probably benign Het
Muc5b A G 7: 141,415,048 (GRCm39) T2665A possibly damaging Het
Ncln A T 10: 81,331,912 (GRCm39) probably null Het
Nfxl1 T C 5: 72,697,708 (GRCm39) R347G probably benign Het
Npnt C A 3: 132,612,179 (GRCm39) C231F probably damaging Het
Nrap T A 19: 56,330,743 (GRCm39) H1070L probably benign Het
Nrxn1 G T 17: 91,011,746 (GRCm39) Y294* probably null Het
Or4c126 A G 2: 89,823,782 (GRCm39) D15G probably benign Het
Or9s27 T C 1: 92,516,429 (GRCm39) Y126H probably damaging Het
Otog A G 7: 45,948,022 (GRCm39) H2341R possibly damaging Het
Paqr3 T C 5: 97,243,887 (GRCm39) probably null Het
Pcdhb11 T C 18: 37,556,796 (GRCm39) F709L probably benign Het
Phf12 G A 11: 77,918,224 (GRCm39) R812Q probably damaging Het
Polr2a A T 11: 69,637,696 (GRCm39) L216Q probably damaging Het
Pou2f3 C T 9: 43,045,769 (GRCm39) probably null Het
Prkcd A T 14: 30,317,938 (GRCm39) N548K probably benign Het
Pygb A G 2: 150,657,620 (GRCm39) D361G probably benign Het
Rpl9 A T 5: 65,546,044 (GRCm39) probably benign Het
Rubcnl A T 14: 75,272,912 (GRCm39) T211S probably benign Het
Rusc1 C T 3: 88,999,027 (GRCm39) G252S probably benign Het
Scnn1g A G 7: 121,337,318 (GRCm39) T60A probably damaging Het
Sipa1l2 T G 8: 126,218,423 (GRCm39) T305P probably benign Het
Slc18b1 T A 10: 23,700,565 (GRCm39) probably benign Het
Sp100 G A 1: 85,608,861 (GRCm39) probably null Het
Tekt5 A T 16: 10,205,017 (GRCm39) probably null Het
Tlnrd1 T A 7: 83,533,693 (GRCm39) probably benign Het
Tpcn1 A G 5: 120,685,462 (GRCm39) probably benign Het
Tpcn2 T C 7: 144,814,719 (GRCm39) I461V probably benign Het
Traf3ip1 A G 1: 91,455,467 (GRCm39) K643E probably damaging Het
Trim33 T C 3: 103,251,892 (GRCm39) C914R probably damaging Het
Trip11 G A 12: 101,849,738 (GRCm39) T1442I probably damaging Het
Ttll6 A G 11: 96,026,415 (GRCm39) M107V possibly damaging Het
Uap1l1 A G 2: 25,253,445 (GRCm39) probably benign Het
Ube3b T A 5: 114,553,370 (GRCm39) I914N possibly damaging Het
Usp24 A G 4: 106,237,665 (GRCm39) T1107A probably damaging Het
Usp40 A T 1: 87,896,122 (GRCm39) C811* probably null Het
Vps11 T C 9: 44,270,432 (GRCm39) probably null Het
Wdr91 A T 6: 34,868,422 (GRCm39) I433N possibly damaging Het
Zfp770 G C 2: 114,026,713 (GRCm39) S452* probably null 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
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'- AGGAACTTCTGCTGGAGGAC -3'
(R):5'- CAGGAGTGGTTCATACCCTTC -3'

Sequencing Primer
(F):5'- TGGAGGACCAGGATCTGC -3'
(R):5'- GGAGTGGTTCATACCCTTCTCTGC -3'
Posted On 2017-02-28