Incidental Mutation 'IGL02430:Pole3'
ID 293078
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pole3
Ensembl Gene ENSMUSG00000028394
Gene Name polymerase (DNA directed), epsilon 3 (p17 subunit)
Synonyms 1810034K18Rik, YBL1
Accession Numbers
Essential gene? Probably essential (E-score: 0.937) question?
Stock # IGL02430
Quality Score
Status
Chromosome 4
Chromosomal Location 62440889-62443305 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62443056 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 28 (N28S)
Ref Sequence ENSEMBL: ENSMUSP00000114486 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030090] [ENSMUST00000030091] [ENSMUST00000062145] [ENSMUST00000107444] [ENSMUST00000128100]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000030090
SMART Domains Protein: ENSMUSP00000030090
Gene: ENSMUSG00000028393

DomainStartEndE-ValueType
ALAD 2 327 1.56e-185 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000030091
AA Change: N28S

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000030091
Gene: ENSMUSG00000028394
AA Change: N28S

DomainStartEndE-ValueType
Pfam:CBFD_NFYB_HMF 8 73 1.8e-16 PFAM
low complexity region 95 142 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000062145
SMART Domains Protein: ENSMUSP00000050465
Gene: ENSMUSG00000058046

DomainStartEndE-ValueType
Pfam:DUF4647 22 481 7.3e-182 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107444
SMART Domains Protein: ENSMUSP00000103068
Gene: ENSMUSG00000028393

DomainStartEndE-ValueType
ALAD 2 327 1.56e-185 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000128100
AA Change: N28S

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000114486
Gene: ENSMUSG00000028394
AA Change: N28S

DomainStartEndE-ValueType
Pfam:CBFD_NFYB_HMF 8 50 3.1e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129930
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137448
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] POLE3 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap33 T C 7: 30,222,185 (GRCm39) E1249G probably benign Het
C8a G A 4: 104,674,719 (GRCm39) T540I probably damaging Het
Clcnkb C A 4: 141,136,701 (GRCm39) W388L possibly damaging Het
Cnbp A T 6: 87,822,160 (GRCm39) Y114* probably null Het
Col13a1 A G 10: 61,710,530 (GRCm39) V337A probably benign Het
Cyp2e1 A G 7: 140,350,139 (GRCm39) K275E probably damaging Het
Dchs1 A G 7: 105,421,178 (GRCm39) V414A probably benign Het
Ebf1 G A 11: 44,815,403 (GRCm39) probably null Het
Gabbr1 C T 17: 37,367,200 (GRCm39) R198* probably null Het
Gpaa1 T C 15: 76,216,388 (GRCm39) S36P possibly damaging Het
Hipk1 A G 3: 103,667,971 (GRCm39) V532A probably damaging Het
Klhl18 A T 9: 110,266,469 (GRCm39) C217S probably benign Het
Lmntd1 T A 6: 145,359,140 (GRCm39) T191S probably benign Het
Ltbp2 T A 12: 84,846,175 (GRCm39) Y925F probably damaging Het
Lvrn A G 18: 47,027,797 (GRCm39) I871V probably benign Het
Mrgprb1 A G 7: 48,097,409 (GRCm39) S168P possibly damaging Het
Or11g24 A G 14: 50,662,608 (GRCm39) I211V probably benign Het
Or5p70 A T 7: 107,994,929 (GRCm39) I201F probably benign Het
Pcnx1 T A 12: 81,966,096 (GRCm39) N754K possibly damaging Het
Plaa A T 4: 94,470,810 (GRCm39) M442K probably benign Het
Pramel18 A G 4: 101,767,477 (GRCm39) Y242C probably benign Het
Prlr A G 15: 10,325,477 (GRCm39) K4E probably damaging Het
Rp1l1 A T 14: 64,266,735 (GRCm39) T774S probably benign Het
Selp C A 1: 163,953,952 (GRCm39) P84Q probably damaging Het
Sh3bp4 T A 1: 89,080,885 (GRCm39) W901R probably null Het
Slc6a20b A G 9: 123,426,305 (GRCm39) Y527H probably damaging Het
Slit3 T A 11: 35,068,601 (GRCm39) probably null Het
Spidr C T 16: 15,932,774 (GRCm39) D169N probably damaging Het
Sstr2 T C 11: 113,515,630 (GRCm39) L183P probably damaging Het
Tmem62 C T 2: 120,817,143 (GRCm39) T233I probably damaging Het
Uba7 A G 9: 107,856,667 (GRCm39) probably benign Het
Ubc A T 5: 125,464,634 (GRCm39) I231N probably damaging Het
Ubl3 A T 5: 148,488,766 (GRCm39) D8E probably benign Het
Unc5a A G 13: 55,150,295 (GRCm39) I465M probably damaging Het
Vmn2r106 A G 17: 20,499,158 (GRCm39) I251T probably benign Het
Vwa8 T C 14: 79,172,085 (GRCm39) probably null Het
Washc5 A G 15: 59,238,140 (GRCm39) Y195H probably damaging Het
Wdr27 A C 17: 15,122,062 (GRCm39) S615A probably damaging Het
Zfp160 T A 17: 21,245,792 (GRCm39) L114H possibly damaging Het
Zfp523 T C 17: 28,414,113 (GRCm39) probably benign Het
Other mutations in Pole3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2248:Pole3 UTSW 4 62,443,250 (GRCm39) start gained probably benign
R3969:Pole3 UTSW 4 62,443,198 (GRCm39) missense possibly damaging 0.85
R5568:Pole3 UTSW 4 62,442,668 (GRCm39) missense probably damaging 0.96
R6394:Pole3 UTSW 4 62,442,263 (GRCm39) utr 3 prime probably benign
R6902:Pole3 UTSW 4 62,442,300 (GRCm39) utr 3 prime probably benign
R7224:Pole3 UTSW 4 62,442,287 (GRCm39) missense unknown
R7689:Pole3 UTSW 4 62,443,060 (GRCm39) missense probably damaging 1.00
R9241:Pole3 UTSW 4 62,442,845 (GRCm39) critical splice donor site probably benign
R9449:Pole3 UTSW 4 62,442,277 (GRCm39) missense unknown
Posted On 2015-04-16