Incidental Mutation 'IGL01886:Polr3h'
ID 179128
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Polr3h
Ensembl Gene ENSMUSG00000022476
Gene Name polymerase (RNA) III (DNA directed) polypeptide H
Synonyms 5031409G22Rik, RPC8
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.950) question?
Stock # IGL01886
Quality Score
Status
Chromosome 15
Chromosomal Location 81888228-81926240 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 81917390 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 95 (E95G)
Ref Sequence ENSEMBL: ENSMUSP00000155181 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023113] [ENSMUST00000023116] [ENSMUST00000230050]
AlphaFold Q9D2C6
Predicted Effect possibly damaging
Transcript: ENSMUST00000023113
AA Change: E124G

PolyPhen 2 Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000023113
Gene: ENSMUSG00000022476
AA Change: E124G

DomainStartEndE-ValueType
Pfam:SHS2_Rpb7-N 8 77 7.1e-23 PFAM
Pfam:RNA_pol_Rbc25 79 201 2.4e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000023116
SMART Domains Protein: ENSMUSP00000023116
Gene: ENSMUSG00000022477

DomainStartEndE-ValueType
Pfam:Aconitase 65 503 2.2e-160 PFAM
Pfam:Aconitase_C 582 712 5e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144324
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229402
Predicted Effect probably damaging
Transcript: ENSMUST00000230050
AA Change: E95G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230066
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230669
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230765
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230842
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt1 C T 12: 112,659,158 V136M probably benign Het
Ankrd34c A T 9: 89,730,265 L8M possibly damaging Het
Anks6 C A 4: 47,044,850 W352L probably damaging Het
Arhgap12 A T 18: 6,027,613 N768K probably damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Clec7a A T 6: 129,463,177 probably benign Het
Cyp3a13 G A 5: 137,898,820 P411S probably damaging Het
Elavl2 A G 4: 91,264,093 V129A probably damaging Het
Ercc6 T A 14: 32,569,580 S994T possibly damaging Het
Esco1 T A 18: 10,595,262 K8I probably damaging Het
Esr1 T A 10: 4,856,861 I259K probably damaging Het
Filip1l A G 16: 57,571,250 I734V possibly damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Grin3a T A 4: 49,702,814 I891F probably damaging Het
Kat7 T C 11: 95,306,133 T27A probably benign Het
Kdm1a A G 4: 136,561,016 probably null Het
Kifc5b T C 17: 26,932,117 V663A probably damaging Het
Lama1 T G 17: 67,807,797 S2314A probably benign Het
Lrrc69 C T 4: 14,703,984 V279I probably benign Het
Mast3 A T 8: 70,782,139 L774Q possibly damaging Het
Med27 C A 2: 29,413,482 P9Q probably damaging Het
Myo5a C A 9: 75,169,090 probably benign Het
Myoz1 T C 14: 20,655,309 K14E probably damaging Het
Neb T C 2: 52,183,845 probably benign Het
Nlrp1a T C 11: 71,123,501 T308A probably benign Het
Olfr364-ps1 A G 2: 37,146,509 Y99C probably damaging Het
Olfr926 G T 9: 38,877,548 C124F probably damaging Het
Orc1 T A 4: 108,603,957 probably null Het
Pnkp G A 7: 44,862,207 A76T probably damaging Het
Prpf40b T A 15: 99,304,447 M62K unknown Het
Prpf8 C A 11: 75,495,744 Q1075K probably benign Het
Ptprg A G 14: 12,179,280 K766E probably benign Het
Rabgap1l A T 1: 160,342,042 N778K probably damaging Het
Riok3 T A 18: 12,139,385 N204K probably damaging Het
Shank3 A G 15: 89,531,663 K650E probably damaging Het
Sim1 T A 10: 50,984,315 S758T probably damaging Het
Slu7 T G 11: 43,439,260 N171K probably damaging Het
Sult6b2 A G 6: 142,790,126 probably null Het
Taf6l C T 19: 8,778,086 probably null Het
Ubtfl1 G A 9: 18,409,721 V182M possibly damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Other mutations in Polr3h
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01103:Polr3h APN 15 81922496 missense probably damaging 0.99
IGL03409:Polr3h APN 15 81917394 missense probably benign 0.01
R2436:Polr3h UTSW 15 81917205 missense probably benign 0.18
R4642:Polr3h UTSW 15 81922466 missense probably benign 0.16
R5631:Polr3h UTSW 15 81925912 start gained probably benign
R5927:Polr3h UTSW 15 81917279 splice site probably null
R5933:Polr3h UTSW 15 81916634 missense probably damaging 1.00
R6638:Polr3h UTSW 15 81918304 missense possibly damaging 0.96
R7412:Polr3h UTSW 15 81916401 splice site probably null
R7646:Polr3h UTSW 15 81917370 missense probably damaging 1.00
R7916:Polr3h UTSW 15 81922412 missense probably benign 0.10
R8487:Polr3h UTSW 15 81916623 missense probably benign 0.02
Y4339:Polr3h UTSW 15 81922408 critical splice donor site probably null
Posted On 2014-05-07