Incidental Mutation 'IGL03409:Polr3h'
ID421725
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Polr3h
Ensembl Gene ENSMUSG00000022476
Gene Namepolymerase (RNA) III (DNA directed) polypeptide H
Synonyms5031409G22Rik, RPC8
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.941) question?
Stock #IGL03409
Quality Score
Status
Chromosome15
Chromosomal Location81888228-81926240 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 81917394 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Serine at position 94 (A94S)
Ref Sequence ENSEMBL: ENSMUSP00000155181 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023113] [ENSMUST00000023116] [ENSMUST00000230050]
Predicted Effect probably benign
Transcript: ENSMUST00000023113
AA Change: A123S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000023113
Gene: ENSMUSG00000022476
AA Change: A123S

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 benign
Transcript: ENSMUST00000230050
AA Change: A94S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 A T 8: 123,965,023 M401K possibly damaging Het
Ablim3 T A 18: 61,845,851 H203L probably damaging Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Aox2 T G 1: 58,354,429 D1249E possibly damaging Het
Astn2 T C 4: 65,435,186 I1116V possibly damaging Het
Atad3a T C 4: 155,747,350 D489G probably damaging Het
Caln1 G T 5: 130,617,878 G52C probably damaging Het
Cbwd1 A G 19: 24,922,766 V289A probably benign Het
Clcn7 A G 17: 25,155,385 T467A probably damaging Het
Col17a1 A T 19: 47,666,540 I599N possibly damaging Het
Cul2 T A 18: 3,429,593 H547Q probably damaging Het
Cxcl14 T C 13: 56,292,507 T80A probably damaging Het
Dscaml1 T A 9: 45,670,103 Y407N probably damaging Het
Edc4 T A 8: 105,885,116 I108N probably damaging Het
Exoc2 T C 13: 30,940,737 probably benign Het
Gm1110 T G 9: 26,896,620 H290P probably benign Het
Gm16223 T A 5: 42,067,993 W12R unknown Het
Herc2 C A 7: 56,228,569 H4623Q probably damaging Het
Igkv18-36 A T 6: 69,992,605 H68Q possibly damaging Het
Kif7 T C 7: 79,707,553 E635G probably benign Het
Olfr1160 A T 2: 88,005,895 N285K probably damaging Het
Olfr1214 A T 2: 88,987,587 I205N possibly damaging Het
Olfr328 T C 11: 58,551,562 K226E probably benign Het
Olfr618 T A 7: 103,597,367 M17K possibly damaging Het
Pam C A 1: 97,864,329 A456S probably benign Het
Pgap3 T C 11: 98,398,938 T76A possibly damaging Het
Pkd2 C A 5: 104,489,349 Y609* probably null Het
Plcg2 A G 8: 117,583,495 D362G probably damaging Het
Rhod T C 19: 4,432,158 D76G probably damaging Het
Rims2 T C 15: 39,456,733 V670A probably damaging Het
Rpap3 G A 15: 97,681,739 T464M possibly damaging Het
Rufy1 T A 11: 50,406,483 I381L probably benign Het
Slc1a4 T C 11: 20,306,506 T442A probably damaging Het
Slc9b1 T C 3: 135,394,909 S472P probably damaging Het
Tmtc3 T C 10: 100,451,432 T501A possibly damaging Het
Tnpo3 C A 6: 29,555,182 D801Y probably damaging Het
Ttc39b T C 4: 83,260,956 Y111C probably damaging Het
Ubr4 A T 4: 139,399,929 R543* probably null Het
Vmn1r74 T G 7: 11,847,313 L180R probably damaging Het
Vps45 T G 3: 96,053,089 E80A probably benign Het
Zfp677 T C 17: 21,396,845 Y55H probably damaging Het
Other mutations in Polr3h
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01103:Polr3h APN 15 81922496 missense probably damaging 0.99
IGL01886:Polr3h APN 15 81917390 missense probably damaging 1.00
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 unclassified probably null
R5933:Polr3h UTSW 15 81916634 missense probably damaging 1.00
R6638:Polr3h UTSW 15 81918304 missense possibly damaging 0.96
Y4339:Polr3h UTSW 15 81922408 critical splice donor site probably null
Posted On2016-08-02