Incidental Mutation 'R5755:Polr1h'
ID 445017
Institutional Source Beutler Lab
Gene Symbol Polr1h
Ensembl Gene ENSMUSG00000036315
Gene Name RNA polymerase I subunit H
Synonyms 1110014N07Rik, Znrd1
MMRRC Submission 043202-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R5755 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 37265250-37269417 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37269049 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 43 (D43V)
Ref Sequence ENSEMBL: ENSMUSP00000133651 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040177] [ENSMUST00000113669] [ENSMUST00000172518] [ENSMUST00000172823] [ENSMUST00000173814]
AlphaFold Q791N7
Predicted Effect probably benign
Transcript: ENSMUST00000040177
SMART Domains Protein: ENSMUSP00000048695
Gene: ENSMUSG00000036214

DomainStartEndE-ValueType
low complexity region 98 115 N/A INTRINSIC
coiled coil region 163 195 N/A INTRINSIC
low complexity region 224 236 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113669
AA Change: D43V

PolyPhen 2 Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000109299
Gene: ENSMUSG00000036315
AA Change: D43V

DomainStartEndE-ValueType
ZnF_C2C2 82 121 1.68e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172518
AA Change: D43V

PolyPhen 2 Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000133651
Gene: ENSMUSG00000036315
AA Change: D43V

DomainStartEndE-ValueType
ZnF_C2C2 82 121 1.68e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172672
Predicted Effect probably benign
Transcript: ENSMUST00000172823
AA Change: D43V

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000133644
Gene: ENSMUSG00000036315
AA Change: D43V

DomainStartEndE-ValueType
ZnF_C2C2 59 98 1.68e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173814
SMART Domains Protein: ENSMUSP00000134016
Gene: ENSMUSG00000036214

DomainStartEndE-ValueType
low complexity region 19 36 N/A INTRINSIC
coiled coil region 84 116 N/A INTRINSIC
low complexity region 145 157 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174466
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DNA-directed RNA polymerase I subunit. The encoded protein contains two potential zinc-binding motifs and may play a role in regulation of cell proliferation. The encoded protein may be involved in cancer and human immunodeficiency virus progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,617,428 (GRCm39) F1042I probably damaging Het
Ahnak A G 19: 8,979,096 (GRCm39) T127A probably benign Het
Aloxe3 A G 11: 69,023,575 (GRCm39) I233V probably benign Het
Ambn T A 5: 88,612,350 (GRCm39) probably null Het
Atp2b1 A G 10: 98,839,032 (GRCm39) E39G probably damaging Het
Atp2b1 T C 10: 98,830,671 (GRCm39) probably null Het
Camsap2 C T 1: 136,210,065 (GRCm39) G476R probably damaging Het
Cdk4 T A 10: 126,900,591 (GRCm39) probably null Het
Dcaf12 T C 4: 41,313,356 (GRCm39) Y63C probably damaging Het
Dtna T A 18: 23,754,520 (GRCm39) S445T probably benign Het
Ehmt2 T C 17: 35,127,214 (GRCm39) M109T probably benign Het
Erbb4 T C 1: 68,599,678 (GRCm39) E133G possibly damaging Het
F830016B08Rik T A 18: 60,433,878 (GRCm39) F320L probably damaging Het
Fyco1 A G 9: 123,657,773 (GRCm39) V801A possibly damaging Het
Gm57858 A T 3: 36,071,842 (GRCm39) M501K probably benign Het
Jag1 T A 2: 136,930,610 (GRCm39) N674Y probably damaging Het
Kcnj10 A G 1: 172,197,161 (GRCm39) E225G possibly damaging Het
Klhl11 T A 11: 100,355,177 (GRCm39) M215L probably benign Het
Kmt2d G T 15: 98,761,527 (GRCm39) P608T unknown Het
Map3k19 T C 1: 127,750,118 (GRCm39) M1078V probably benign Het
Neto1 T C 18: 86,517,219 (GRCm39) V512A probably damaging Het
Notch1 T C 2: 26,363,704 (GRCm39) D910G probably benign Het
Or1e19 T A 11: 73,316,557 (GRCm39) N84I probably benign Het
Or2w1 T A 13: 21,317,695 (GRCm39) I250K probably damaging Het
Parvg T C 15: 84,215,297 (GRCm39) probably null Het
Pi4kb A T 3: 94,901,608 (GRCm39) probably null Het
Plag1 T C 4: 3,904,492 (GRCm39) K233R possibly damaging Het
Rasgrp3 A C 17: 75,831,940 (GRCm39) D587A probably benign Het
Slc7a10 A T 7: 34,898,336 (GRCm39) I336F probably damaging Het
Snx8 T G 5: 140,338,796 (GRCm39) E254A possibly damaging Het
Sp3 A T 2: 72,768,725 (GRCm39) silent Het
Sp8 G T 12: 118,812,822 (GRCm39) A226S probably damaging Het
Spata31d1c C A 13: 65,184,341 (GRCm39) Q628K probably benign Het
Styx C A 14: 45,605,910 (GRCm39) T138K probably benign Het
Syngr3 A G 17: 24,905,509 (GRCm39) F155S probably damaging Het
Trip11 C T 12: 101,851,924 (GRCm39) W428* probably null Het
Ubr4 A G 4: 139,187,406 (GRCm39) T3825A possibly damaging Het
Vmn2r113 A T 17: 23,176,955 (GRCm39) T580S probably benign Het
Zbtb11 T A 16: 55,821,076 (GRCm39) S724R probably benign Het
Zcchc4 T C 5: 52,973,511 (GRCm39) S379P probably benign Het
Other mutations in Polr1h
AlleleSourceChrCoordTypePredicted EffectPPH Score
R7440:Polr1h UTSW 17 37,268,736 (GRCm39) missense probably benign
R7638:Polr1h UTSW 17 37,268,722 (GRCm39) critical splice donor site probably null
X0064:Polr1h UTSW 17 37,268,475 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CCTTCACAATCTGCACAGGAAG -3'
(R):5'- TCAAGGCCAGAATCCTGTGC -3'

Sequencing Primer
(F):5'- TCACAATCTGCACAGGAAGTAAAAAG -3'
(R):5'- TCCTGTGCCTTAATAATAAACACTCC -3'
Posted On 2016-11-21