Incidental Mutation 'R5506:Polr3d'
ID 430942
Institutional Source Beutler Lab
Gene Symbol Polr3d
Ensembl Gene ENSMUSG00000000776
Gene Name polymerase (RNA) III (DNA directed) polypeptide D
Synonyms 2810426M17Rik, TSBN51, 44kDa, RPC4, BN51T
MMRRC Submission 043067-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.940) question?
Stock # R5506 (G1)
Quality Score 159
Status Validated
Chromosome 14
Chromosomal Location 70676197-70680887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 70678199 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 165 (D165E)
Ref Sequence ENSEMBL: ENSMUSP00000137614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000793] [ENSMUST00000180358]
AlphaFold Q91WD1
Predicted Effect possibly damaging
Transcript: ENSMUST00000000793
AA Change: D165E

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000000793
Gene: ENSMUSG00000000776
AA Change: D165E

DomainStartEndE-ValueType
low complexity region 13 31 N/A INTRINSIC
low complexity region 78 99 N/A INTRINSIC
low complexity region 141 152 N/A INTRINSIC
low complexity region 217 241 N/A INTRINSIC
Pfam:RNA_pol_Rpc4 263 389 7.9e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083594
Predicted Effect possibly damaging
Transcript: ENSMUST00000180358
AA Change: D165E

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000137614
Gene: ENSMUSG00000000776
AA Change: D165E

DomainStartEndE-ValueType
low complexity region 13 31 N/A INTRINSIC
low complexity region 78 99 N/A INTRINSIC
low complexity region 141 152 N/A INTRINSIC
low complexity region 217 241 N/A INTRINSIC
Pfam:RNA_pol_Rpc4 262 389 3e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226523
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226549
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227748
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227985
Meta Mutation Damage Score 0.1444 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.4%
  • 20x: 91.4%
Validation Efficiency 100% (53/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene complements a temperature-sensitive mutant isolated from the BHK-21 Syrian hamster cell line. It leads to a block in progression through the G1 phase of the cell cycle at nonpermissive temperatures. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G T 3: 137,773,708 (GRCm39) G966W probably damaging Het
A930009A15Rik G T 10: 115,414,267 (GRCm39) probably null Het
Cant1 G T 11: 118,302,268 (GRCm39) H16Q probably benign Het
Capn3 G T 2: 120,332,901 (GRCm39) V612F probably damaging Het
Cep112 A T 11: 108,555,429 (GRCm39) E141D probably damaging Het
Cept1 A G 3: 106,438,564 (GRCm39) V173A probably benign Het
CN725425 A G 15: 91,120,029 (GRCm39) D50G possibly damaging Het
Cubn A T 2: 13,496,506 (GRCm39) probably null Het
Dnajb12 GC G 10: 59,728,574 (GRCm39) probably null Het
Dpp8 A G 9: 64,985,391 (GRCm39) probably null Het
Ecm1 G A 3: 95,643,169 (GRCm39) T377I probably benign Het
Exosc8 A G 3: 54,638,600 (GRCm39) probably benign Het
Fasn C T 11: 120,700,336 (GRCm39) D2165N probably benign Het
Gab2 A G 7: 96,952,320 (GRCm39) E571G probably damaging Het
Galnt5 C A 2: 57,889,637 (GRCm39) H412Q probably benign Het
Galr1 T A 18: 82,423,989 (GRCm39) Y96F possibly damaging Het
Garin1b G A 6: 29,319,297 (GRCm39) E34K probably damaging Het
Gnl2 C A 4: 124,949,158 (GRCm39) probably benign Het
H2ac22 A C 13: 21,971,081 (GRCm39) I103S probably damaging Het
H2ax T C 9: 44,246,402 (GRCm39) V115A probably benign Het
Heatr9 T C 11: 83,405,592 (GRCm39) N317S possibly damaging Het
Kndc1 A G 7: 139,507,804 (GRCm39) Y1254C probably damaging Het
Lrp6 A T 6: 134,436,259 (GRCm39) D1302E probably benign Het
Mc2r A T 18: 68,541,019 (GRCm39) Y91* probably null Het
Meis1 T G 11: 18,891,747 (GRCm39) D267A possibly damaging Het
Mki67 T C 7: 135,301,710 (GRCm39) K1108R possibly damaging Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Myh3 T G 11: 66,974,915 (GRCm39) D219E probably damaging Het
Niban2 G A 2: 32,810,994 (GRCm39) V335M probably damaging Het
Or10g1b T C 14: 52,628,084 (GRCm39) I49V probably damaging Het
Or7e166 T C 9: 19,624,570 (GRCm39) L149P possibly damaging Het
Pi4ka A G 16: 17,111,817 (GRCm39) C1553R probably damaging Het
Plekhb1 C A 7: 100,294,150 (GRCm39) probably null Het
Prb1c T C 6: 132,338,819 (GRCm39) N133S unknown Het
Psmb1 A G 17: 15,710,478 (GRCm39) Y24H probably damaging Het
Rab11fip5 A G 6: 85,351,119 (GRCm39) L131P probably damaging Het
Raph1 A T 1: 60,532,657 (GRCm39) probably benign Het
Rmc1 A G 18: 12,322,013 (GRCm39) probably benign Het
Scgb2b27 T G 7: 33,711,484 (GRCm39) probably benign Het
Serpina10 T C 12: 103,592,920 (GRCm39) D264G probably damaging Het
Sftpb A G 6: 72,281,651 (GRCm39) T15A possibly damaging Het
Slc20a1 T C 2: 129,052,739 (GRCm39) F674L probably benign Het
Syne2 A T 12: 75,985,495 (GRCm39) N1648Y probably benign Het
Thsd7a G T 6: 12,332,016 (GRCm39) N1265K possibly damaging Het
Trem2 T C 17: 48,658,802 (GRCm39) L189P probably benign Het
Washc4 A T 10: 83,417,201 (GRCm39) R865S probably damaging Het
Zfp536 A G 7: 37,268,217 (GRCm39) S400P probably damaging Het
Other mutations in Polr3d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02653:Polr3d APN 14 70,677,557 (GRCm39) missense probably damaging 1.00
IGL03006:Polr3d APN 14 70,678,603 (GRCm39) critical splice acceptor site probably null
G1patch:Polr3d UTSW 14 70,678,577 (GRCm39) missense probably benign 0.00
PIT4449001:Polr3d UTSW 14 70,676,903 (GRCm39) missense probably benign 0.27
R0568:Polr3d UTSW 14 70,676,959 (GRCm39) missense possibly damaging 0.81
R1435:Polr3d UTSW 14 70,677,479 (GRCm39) missense probably benign 0.22
R1710:Polr3d UTSW 14 70,680,450 (GRCm39) missense probably benign 0.03
R1714:Polr3d UTSW 14 70,678,755 (GRCm39) missense possibly damaging 0.90
R1748:Polr3d UTSW 14 70,676,915 (GRCm39) nonsense probably null
R2136:Polr3d UTSW 14 70,680,487 (GRCm39) frame shift probably null
R5984:Polr3d UTSW 14 70,676,927 (GRCm39) missense possibly damaging 0.90
R6725:Polr3d UTSW 14 70,678,577 (GRCm39) missense probably benign 0.00
R6880:Polr3d UTSW 14 70,677,455 (GRCm39) missense probably benign 0.00
R7447:Polr3d UTSW 14 70,677,240 (GRCm39) missense probably damaging 0.99
R9053:Polr3d UTSW 14 70,678,153 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACGTTACCTTTGACGGCAGG -3'
(R):5'- AGCTGCTAAAGAGGGTTTTGAG -3'

Sequencing Primer
(F):5'- TTTGACGGCAGGCACGTC -3'
(R):5'- TGATGTAAGCACACGTGC -3'
Posted On 2016-10-05