Incidental Mutation 'PIT4449001:Polr3d'
ID 555747
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
Accession Numbers
Essential gene? Probably essential (E-score: 0.940) question?
Stock # PIT4449001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 70676197-70680887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70676903 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 397 (H397R)
Ref Sequence ENSEMBL: ENSMUSP00000000793 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000793] [ENSMUST00000180358]
AlphaFold Q91WD1
Predicted Effect probably benign
Transcript: ENSMUST00000000793
AA Change: H397R

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000000793
Gene: ENSMUSG00000000776
AA Change: H397R

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 probably benign
Transcript: ENSMUST00000180358
AA Change: H397R

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000137614
Gene: ENSMUSG00000000776
AA Change: H397R

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
Coding Region Coverage
  • 1x: 93.3%
  • 3x: 90.8%
  • 10x: 84.7%
  • 20x: 71.6%
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asf1b A G 8: 84,694,611 (GRCm39) N125S probably benign Het
BC048671 T A 6: 90,282,145 (GRCm39) L101I probably damaging Het
Camta1 A G 4: 151,216,043 (GRCm39) L959P probably benign Het
Cfap91 T C 16: 38,148,720 (GRCm39) E236G probably damaging Het
Cfh C A 1: 140,040,303 (GRCm39) V598F probably damaging Het
Cyp2j7 G T 4: 96,103,575 (GRCm39) T320K probably damaging Het
Ddr1 A G 17: 35,998,141 (GRCm39) I468T possibly damaging Het
Dhx15 A G 5: 52,318,300 (GRCm39) V510A probably damaging Het
Dpp4 T A 2: 62,186,988 (GRCm39) K507N probably benign Het
Evpl G A 11: 116,124,225 (GRCm39) T198M possibly damaging Het
Gabbr1 G A 17: 37,367,242 (GRCm39) V373I probably damaging Het
Gak A T 5: 108,728,791 (GRCm39) S1049T probably benign Het
Gipr C T 7: 18,894,543 (GRCm39) R253H probably benign Het
Gm3685 T A 14: 7,043,960 (GRCm38) M73L probably benign Het
Gm5168 C T X: 25,994,840 (GRCm39) R129Q probably null Het
Kcnh1 T A 1: 192,100,992 (GRCm39) V555D probably damaging Het
Kif26b T C 1: 178,745,651 (GRCm39) S1916P probably damaging Het
Lingo4 T C 3: 94,309,239 (GRCm39) V59A probably benign Het
Mroh8 T A 2: 157,067,454 (GRCm39) Q635L probably damaging Het
Msh6 T A 17: 88,293,616 (GRCm39) D790E probably damaging Het
Nrxn1 A T 17: 90,905,007 (GRCm39) W809R probably damaging Het
Or5ac19 C A 16: 59,089,493 (GRCm39) C179F probably damaging Het
Pwp2 G A 10: 78,014,304 (GRCm39) T432I probably benign Het
Rad21 G C 15: 51,836,639 (GRCm39) F177L probably benign Het
Rnf182 G A 13: 43,822,153 (GRCm39) V235I probably benign Het
Scn11a C T 9: 119,599,014 (GRCm39) C1172Y probably damaging Het
Sh2b3 A G 5: 121,966,742 (GRCm39) L124P possibly damaging Het
Six2 T C 17: 85,992,906 (GRCm39) N199S probably benign Het
Slc5a3 A G 16: 91,874,702 (GRCm39) D253G probably benign Het
Synm A G 7: 67,385,025 (GRCm39) M879T probably benign Het
Tasp1 A G 2: 139,752,455 (GRCm39) I328T possibly damaging Het
Tbrg4 T C 11: 6,569,689 (GRCm39) Q309R probably damaging Het
Tmtc2 A G 10: 105,139,465 (GRCm39) L687P probably damaging Het
Trgc3 A T 13: 19,447,532 (GRCm39) R162* probably null Het
Tufm T C 7: 126,086,621 (GRCm39) M1T probably null Het
Vmn2r116 A C 17: 23,607,921 (GRCm39) L496F probably benign Het
Vmn2r75 C T 7: 85,814,791 (GRCm39) C234Y probably damaging Het
Wars2 G T 3: 99,112,595 (GRCm39) V162L possibly damaging Het
Zc3h11a A T 1: 133,552,349 (GRCm39) V586D probably benign Het
Zdhhc5 A T 2: 84,520,571 (GRCm39) N535K probably damaging Het
Zfp52 T C 17: 21,777,478 (GRCm39) Y38H probably damaging Het
Zfp729b T C 13: 67,739,542 (GRCm39) M908V probably benign Het
Zfp772 T C 7: 7,207,350 (GRCm39) I114V probably benign 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
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
R5506:Polr3d UTSW 14 70,678,199 (GRCm39) missense possibly damaging 0.69
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'- TGAGGTCCCATTCACAGCTG -3'
(R):5'- CTTGGGGAAATATTAAACAGCCTGTG -3'

Sequencing Primer
(F):5'- ATTCACAGCTGGGGCGAG -3'
(R):5'- CTTCTGGGTCACTGCACTGAG -3'
Posted On 2019-06-07