Incidental Mutation 'R7000:Pold3'
ID 544477
Institutional Source Beutler Lab
Gene Symbol Pold3
Ensembl Gene ENSMUSG00000030726
Gene Name polymerase (DNA-directed), delta 3, accessory subunit
Synonyms GC12, 2410142G14Rik, P68, P66, C85233
MMRRC Submission 045105-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7000 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 99731317-99770709 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 99755865 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 60 (H60Q)
Ref Sequence ENSEMBL: ENSMUSP00000146603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032969] [ENSMUST00000127128] [ENSMUST00000156202] [ENSMUST00000208184] [ENSMUST00000208670]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000032969
AA Change: H99Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032969
Gene: ENSMUSG00000030726
AA Change: H99Q

DomainStartEndE-ValueType
Pfam:CDC27 19 461 1.6e-142 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127128
Predicted Effect probably benign
Transcript: ENSMUST00000156202
Predicted Effect probably benign
Transcript: ENSMUST00000208184
Predicted Effect probably damaging
Transcript: ENSMUST00000208670
AA Change: H60Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the 66-kDa subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein plays a role in regulating the activity of DNA polymerase delta through interactions with other subunits and the processivity cofactor proliferating cell nuclear antigen (PCNA). Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Mar 2012]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G A 5: 8,752,823 (GRCm39) A525T probably benign Het
Abcc6 A G 7: 45,654,946 (GRCm39) I515T possibly damaging Het
Abi1 G A 2: 22,832,053 (GRCm39) A420V probably damaging Het
Abtb2 A T 2: 103,542,787 (GRCm39) I887F possibly damaging Het
Acap3 G A 4: 155,988,306 (GRCm39) G602S possibly damaging Het
Auts2 T A 5: 131,469,056 (GRCm39) T754S probably benign Het
AW551984 T C 9: 39,512,085 (GRCm39) R12G probably benign Het
Bcan G A 3: 87,895,686 (GRCm39) R817* probably null Het
Bmp10 A G 6: 87,411,175 (GRCm39) T323A probably benign Het
Bpnt1 T C 1: 185,082,053 (GRCm39) L165P probably damaging Het
Casz1 G A 4: 149,013,693 (GRCm39) A86T probably damaging Het
Ccn3 A T 15: 54,615,743 (GRCm39) T303S probably damaging Het
Cd1d2 T C 3: 86,895,080 (GRCm39) F189L probably benign Het
Cep72 A G 13: 74,206,444 (GRCm39) M126T probably damaging Het
Cep85l T A 10: 53,174,295 (GRCm39) T483S probably damaging Het
Cfi C A 3: 129,666,522 (GRCm39) T415K probably damaging Het
Chrna7 A G 7: 62,755,787 (GRCm39) L253S probably damaging Het
Col4a4 T C 1: 82,475,051 (GRCm39) H596R unknown Het
Cplx3 G C 9: 57,523,231 (GRCm39) Q109E probably benign Het
Cyp2j8 A T 4: 96,335,588 (GRCm39) M402K probably benign Het
Cyp3a16 T A 5: 145,399,980 (GRCm39) probably null Het
Dhdh T C 7: 45,124,698 (GRCm39) K332E possibly damaging Het
Dnah11 C A 12: 117,981,396 (GRCm39) C2590F probably damaging Het
Dnah17 T C 11: 117,916,528 (GRCm39) probably null Het
Dtx1 A G 5: 120,833,148 (GRCm39) Y97H probably damaging Het
Duxf1 T C 10: 58,058,814 (GRCm39) T647A possibly damaging Het
Elf1 A G 14: 79,808,208 (GRCm39) D183G probably damaging Het
Esyt3 A C 9: 99,204,206 (GRCm39) L94R probably damaging Het
Exoc3 A G 13: 74,330,285 (GRCm39) Y521H probably benign Het
F5 C T 1: 164,007,075 (GRCm39) T293M probably damaging Het
Fam118b A T 9: 35,146,560 (GRCm39) H102Q probably damaging Het
Flad1 T C 3: 89,309,549 (GRCm39) probably benign Het
Flrt3 G A 2: 140,502,804 (GRCm39) R275* probably null Het
Fndc7 G A 3: 108,783,964 (GRCm39) A215V probably benign Het
Fscn1 T A 5: 142,946,382 (GRCm39) V60E probably damaging Het
Gm17175 A T 14: 51,811,418 (GRCm39) M1K probably null Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Gprc6a T C 10: 51,491,143 (GRCm39) S694G probably benign Het
Iglon5 A T 7: 43,126,254 (GRCm39) probably null Het
Iqch T C 9: 63,361,892 (GRCm39) T874A probably benign Het
Lamc2 T A 1: 153,041,873 (GRCm39) H87L possibly damaging Het
Ldlrad1 T A 4: 107,066,777 (GRCm39) D37E probably benign Het
Loxhd1 T C 18: 77,460,129 (GRCm39) probably null Het
Lxn T G 3: 67,369,704 (GRCm39) E60D probably benign Het
Man2b2 A G 5: 36,979,213 (GRCm39) W276R probably damaging Het
Mast1 T C 8: 85,655,598 (GRCm39) Y182C probably damaging Het
Mroh8 C T 2: 157,058,897 (GRCm39) R923Q probably benign Het
Obscn A G 11: 59,026,864 (GRCm39) L113P probably damaging Het
Ocln C T 13: 100,671,470 (GRCm39) probably null Het
Oog2 A T 4: 143,921,897 (GRCm39) Q269L probably damaging Het
Or52e8 G A 7: 104,624,338 (GRCm39) P285S probably damaging Het
Or5b113 A G 19: 13,341,987 (GRCm39) probably benign Het
Osbpl3 A G 6: 50,274,137 (GRCm39) S826P probably damaging Het
Otogl T C 10: 107,615,692 (GRCm39) N1869S probably benign Het
Pamr1 G A 2: 102,441,968 (GRCm39) D186N probably damaging Het
Pcdhga8 T A 18: 37,859,946 (GRCm39) I334K probably benign Het
Pde7b A G 10: 20,319,038 (GRCm39) S95P probably damaging Het
Pik3cg A T 12: 32,242,128 (GRCm39) V994E probably damaging Het
Pkp1 T C 1: 135,817,692 (GRCm39) M148V probably benign Het
Plbd1 T G 6: 136,589,836 (GRCm39) K461Q probably benign Het
Pmfbp1 A G 8: 110,257,221 (GRCm39) E594G possibly damaging Het
Polr3gl C T 3: 96,487,783 (GRCm39) R52Q possibly damaging Het
Ptgds A G 2: 25,357,828 (GRCm39) probably null Het
Scarb2 T C 5: 92,601,934 (GRCm39) D320G probably benign Het
Sdk2 T C 11: 113,693,995 (GRCm39) Y1812C probably damaging Het
Skint8 C A 4: 111,794,222 (GRCm39) T204N probably benign Het
Slc23a2 T C 2: 131,936,123 (GRCm39) Q49R possibly damaging Het
Slc26a7 T C 4: 14,552,476 (GRCm39) Q227R probably benign Het
Sntn C T 14: 13,679,108 (GRCm38) T94I probably damaging Het
Spem2 C T 11: 69,708,582 (GRCm39) G128S probably benign Het
Supt16 A T 14: 52,408,907 (GRCm39) S822R probably damaging Het
Syn3 T C 10: 85,916,116 (GRCm39) Y290C probably damaging Het
Tdrd6 C G 17: 43,938,599 (GRCm39) E816D probably benign Het
Tln1 A T 4: 43,556,302 (GRCm39) M72K probably damaging Het
Tlnrd1 A G 7: 83,531,987 (GRCm39) V148A probably damaging Het
Trim24 C A 6: 37,935,613 (GRCm39) T832K probably benign Het
Ubr4 C T 4: 139,141,715 (GRCm39) A1267V probably damaging Het
Usp17lb A T 7: 104,490,492 (GRCm39) M145K probably damaging Het
Vmn1r178 T A 7: 23,593,762 (GRCm39) M270K probably benign Het
Vmn2r70 A T 7: 85,208,819 (GRCm39) C553S probably damaging Het
Vps37c G T 19: 10,687,693 (GRCm39) E51D probably damaging Het
Zfp62 T G 11: 49,107,206 (GRCm39) Y432* probably null Het
Other mutations in Pold3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01891:Pold3 APN 7 99,737,352 (GRCm39) splice site probably benign
IGL02101:Pold3 APN 7 99,749,703 (GRCm39) missense probably damaging 0.99
IGL02402:Pold3 APN 7 99,749,618 (GRCm39) splice site probably benign
IGL02541:Pold3 APN 7 99,732,879 (GRCm39) missense probably damaging 1.00
IGL03145:Pold3 APN 7 99,745,719 (GRCm39) missense probably damaging 1.00
R0522:Pold3 UTSW 7 99,770,590 (GRCm39) missense probably damaging 1.00
R1263:Pold3 UTSW 7 99,768,890 (GRCm39) missense possibly damaging 0.65
R1956:Pold3 UTSW 7 99,737,318 (GRCm39) missense probably benign 0.03
R2508:Pold3 UTSW 7 99,770,590 (GRCm39) missense probably damaging 1.00
R3933:Pold3 UTSW 7 99,770,608 (GRCm39) missense probably damaging 1.00
R4135:Pold3 UTSW 7 99,749,854 (GRCm39) nonsense probably null
R4354:Pold3 UTSW 7 99,749,824 (GRCm39) missense possibly damaging 0.81
R5038:Pold3 UTSW 7 99,770,590 (GRCm39) missense probably damaging 1.00
R6060:Pold3 UTSW 7 99,749,819 (GRCm39) nonsense probably null
R6118:Pold3 UTSW 7 99,745,614 (GRCm39) missense possibly damaging 0.88
R6338:Pold3 UTSW 7 99,737,312 (GRCm39) missense possibly damaging 0.94
R6466:Pold3 UTSW 7 99,749,839 (GRCm39) missense probably benign 0.01
R8088:Pold3 UTSW 7 99,761,508 (GRCm39) missense probably damaging 1.00
R8488:Pold3 UTSW 7 99,738,938 (GRCm39) missense probably benign 0.00
R9377:Pold3 UTSW 7 99,732,993 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- AGAGGCAGCCACTGTGTAAAC -3'
(R):5'- GCGACTCAGTACCAACATGTCC -3'

Sequencing Primer
(F):5'- GCCACTGTGTAAACACCTTAC -3'
(R):5'- TGCAGACAGAGCTTCATGTTC -3'
Posted On 2019-05-13