Incidental Mutation 'IGL03006:Polr3d'
ID 407575
Institutional Source Australian Phenomics Network (link to record)
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: 0.934) question?
Stock # IGL03006
Quality Score
Status
Chromosome 14
Chromosomal Location 70676197-70680887 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to A at 70678603 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000793] [ENSMUST00000000793] [ENSMUST00000180358] [ENSMUST00000180358]
AlphaFold Q91WD1
Predicted Effect probably null
Transcript: ENSMUST00000000793
SMART Domains Protein: ENSMUSP00000000793
Gene: ENSMUSG00000000776

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 null
Transcript: ENSMUST00000000793
SMART Domains Protein: ENSMUSP00000000793
Gene: ENSMUSG00000000776

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 probably null
Transcript: ENSMUST00000180358
SMART Domains Protein: ENSMUSP00000137614
Gene: ENSMUSG00000000776

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 probably null
Transcript: ENSMUST00000180358
SMART Domains Protein: ENSMUSP00000137614
Gene: ENSMUSG00000000776

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
Coding Region Coverage
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik T A 11: 109,718,671 (GRCm39) S21C probably damaging Het
2210408I21Rik T C 13: 77,471,891 (GRCm39) probably null Het
Abcc3 T C 11: 94,259,421 (GRCm39) D340G probably benign Het
Adamts17 G T 7: 66,728,095 (GRCm39) R879L possibly damaging Het
Adissp A C 2: 130,993,634 (GRCm39) D22E probably damaging Het
Cacna1f C A X: 7,493,142 (GRCm39) T1275K probably damaging Het
Csmd2 T A 4: 128,374,558 (GRCm39) probably benign Het
Dll1 C T 17: 15,593,854 (GRCm39) R171Q probably benign Het
Dnm1 T A 2: 32,243,133 (GRCm39) D30V possibly damaging Het
Fam184a G A 10: 53,574,793 (GRCm39) S216L probably damaging Het
Fbxo33 G A 12: 59,251,105 (GRCm39) A470V probably benign Het
Gm6401 C T 14: 41,788,851 (GRCm39) E73K possibly damaging Het
Ighv7-1 A T 12: 113,860,145 (GRCm39) S82R probably damaging Het
Klk1b4 A G 7: 43,861,019 (GRCm39) I221V probably benign Het
Lama3 T C 18: 12,601,425 (GRCm39) probably benign Het
Lrch1 A G 14: 75,051,060 (GRCm39) L359P probably damaging Het
Mapk8ip3 T C 17: 25,120,489 (GRCm39) T882A probably benign Het
Med12 C T X: 100,321,684 (GRCm39) R456W probably damaging Het
Mms22l T C 4: 24,521,253 (GRCm39) S267P probably damaging Het
Mtpap G A 18: 4,375,721 (GRCm39) G34R possibly damaging Het
Nf1 G A 11: 79,436,257 (GRCm39) D1966N probably damaging Het
Nlrp9c G A 7: 26,071,507 (GRCm39) T867I probably damaging Het
Nrap C T 19: 56,335,596 (GRCm39) V941I probably benign Het
Or5k1b T A 16: 58,581,511 (GRCm39) K9N probably benign Het
Pcdh10 A G 3: 45,333,937 (GRCm39) I84V probably damaging Het
Prkar2a G T 9: 108,617,640 (GRCm39) V233L probably benign Het
Prl4a1 T C 13: 28,207,359 (GRCm39) V211A probably damaging Het
Qpct T C 17: 79,378,151 (GRCm39) V107A probably benign Het
Rai1 T C 11: 60,079,031 (GRCm39) S1032P possibly damaging Het
Rims1 G T 1: 22,367,178 (GRCm39) T1113K probably damaging Het
Rxra C T 2: 27,649,657 (GRCm39) T454I probably damaging Het
S100z T C 13: 95,615,127 (GRCm39) I13V probably damaging Het
Scp2 T C 4: 107,948,477 (GRCm39) K167E probably benign Het
Sephs2 A G 7: 126,872,206 (GRCm39) F296L probably benign Het
Setd1b A G 5: 123,286,514 (GRCm39) E520G unknown Het
Slc28a2 G A 2: 122,283,019 (GRCm39) V308M possibly damaging Het
Smarcad1 T A 6: 65,060,873 (GRCm39) I451K probably benign Het
Tarbp1 C T 8: 127,170,881 (GRCm39) D1040N probably damaging Het
Tdrd6 T C 17: 43,936,323 (GRCm39) D1575G probably damaging Het
Tll1 T A 8: 64,527,251 (GRCm39) probably benign Het
Tsks A T 7: 44,600,198 (GRCm39) probably benign Het
Ttc1 A T 11: 43,636,147 (GRCm39) M32K probably benign Het
Txlnb C T 10: 17,714,723 (GRCm39) A385V probably damaging Het
Zc4h2 T C X: 94,687,019 (GRCm39) H98R probably damaging Het
Other mutations in Polr3d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02653:Polr3d APN 14 70,677,557 (GRCm39) missense probably damaging 1.00
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
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
Posted On 2016-08-02