Incidental Mutation 'R0208:Pold4'
ID 33503
Institutional Source Beutler Lab
Gene Symbol Pold4
Ensembl Gene ENSMUSG00000024854
Gene Name polymerase (DNA-directed), delta 4
Synonyms p12, 2410012M21Rik, DNA polymerase delta smallest subunit p12
MMRRC Submission 038461-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R0208 (G1)
Quality Score 93
Status Validated
Chromosome 19
Chromosomal Location 4281953-4283688 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to G at 4282593 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 58 (Y58*)
Ref Sequence ENSEMBL: ENSMUSP00000025773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025773]
AlphaFold Q9CWP8
Predicted Effect probably null
Transcript: ENSMUST00000025773
AA Change: Y58*
SMART Domains Protein: ENSMUSP00000025773
Gene: ENSMUSG00000024854
AA Change: Y58*

DomainStartEndE-ValueType
Pfam:DNA_pol_delta_4 23 98 2.5e-23 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.7%
Validation Efficiency 96% (67/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the smallest 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 enhances the activity of DNA polymerase delta and plays a role in fork repair and stabilization through interactions with the DNA helicase Bloom syndrome protein. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 C T 3: 59,840,110 (GRCm39) R61C probably damaging Het
Ackr4 A G 9: 103,976,860 (GRCm39) V29A probably benign Het
Adgrb1 T C 15: 74,458,656 (GRCm39) F313L probably benign Het
Arfgef2 C T 2: 166,709,342 (GRCm39) R1140W probably damaging Het
Arhgef15 A T 11: 68,837,199 (GRCm39) N797K probably benign Het
Arhgef5 A G 6: 43,250,275 (GRCm39) E342G probably damaging Het
Asb2 T A 12: 103,291,530 (GRCm39) N466Y possibly damaging Het
Atp8a1 A T 5: 67,932,064 (GRCm39) probably null Het
Cacna1b A G 2: 24,497,492 (GRCm39) S2140P probably damaging Het
Camsap2 G C 1: 136,208,738 (GRCm39) P918R probably damaging Het
Cdk7 G T 13: 100,843,022 (GRCm39) D202E probably benign Het
Cenpj G T 14: 56,801,427 (GRCm39) A182E probably benign Het
Clstn3 A G 6: 124,409,128 (GRCm39) probably benign Het
Col9a2 C T 4: 120,909,485 (GRCm39) probably benign Het
D630045J12Rik A G 6: 38,116,385 (GRCm39) M1745T probably damaging Het
Dnah11 A C 12: 118,007,509 (GRCm39) N2156K probably damaging Het
Dock3 G T 9: 106,874,195 (GRCm39) Y425* probably null Het
Eng A T 2: 32,569,005 (GRCm39) T511S probably benign Het
Gcfc2 A T 6: 81,920,444 (GRCm39) S410C probably null Het
Grik3 T A 4: 125,579,958 (GRCm39) Y568N probably damaging Het
Gsr T A 8: 34,179,383 (GRCm39) D330E possibly damaging Het
H2-M10.4 A G 17: 36,771,375 (GRCm39) W268R probably damaging Het
Hepacam2 A T 6: 3,467,505 (GRCm39) probably benign Het
Hrct1 C A 4: 43,727,384 (GRCm39) T8K possibly damaging Het
Idua T A 5: 108,829,618 (GRCm39) F447I probably damaging Het
Il2ra T C 2: 11,686,828 (GRCm39) probably benign Het
Ipcef1 A G 10: 6,870,062 (GRCm39) S113P probably damaging Het
Klk1b9 T A 7: 43,628,854 (GRCm39) N119K possibly damaging Het
Krtap9-3 C A 11: 99,488,663 (GRCm39) C73F probably damaging Het
Loxhd1 T A 18: 77,492,562 (GRCm39) F1334L possibly damaging Het
Med1 A G 11: 98,046,515 (GRCm39) probably benign Het
Med13 A G 11: 86,191,682 (GRCm39) probably benign Het
Mtor C A 4: 148,549,432 (GRCm39) H605Q probably benign Het
Muc19 A G 15: 91,777,218 (GRCm39) noncoding transcript Het
Mybphl T C 3: 108,282,731 (GRCm39) V207A probably damaging Het
Nptxr A T 15: 79,673,916 (GRCm39) C366S probably null Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Or5p73 A G 7: 108,064,750 (GRCm39) D73G probably damaging Het
Or8h9 G T 2: 86,789,748 (GRCm39) T18K probably damaging Het
Pcdhb18 T C 18: 37,623,240 (GRCm39) I190T possibly damaging Het
Pde3b A G 7: 114,097,216 (GRCm39) T428A probably benign Het
Pgbd1 A C 13: 21,618,651 (GRCm39) L2R probably damaging Het
Pkp4 A G 2: 59,096,780 (GRCm39) I61V probably damaging Het
Polr1d A C 5: 147,015,490 (GRCm39) probably null Het
Prex2 T A 1: 11,355,368 (GRCm39) D1556E probably damaging Het
Psmd1 T C 1: 86,061,463 (GRCm39) V891A possibly damaging Het
Rasip1 C A 7: 45,281,999 (GRCm39) P501T probably damaging Het
Scgb2b27 C A 7: 33,711,562 (GRCm39) E96* probably null Het
Sec16b G T 1: 157,380,505 (GRCm39) G359* probably null Het
Secisbp2 A G 13: 51,833,881 (GRCm39) T674A probably benign Het
Serpinb6c G A 13: 34,081,379 (GRCm39) S90L probably benign Het
Sgsm2 A G 11: 74,759,067 (GRCm39) I170T probably damaging Het
Slc28a1 A T 7: 80,767,454 (GRCm39) probably benign Het
Slc35d1 T C 4: 103,065,351 (GRCm39) T177A probably damaging Het
Spg11 C T 2: 121,886,177 (GRCm39) probably null Het
Spint1 T C 2: 119,078,826 (GRCm39) probably benign Het
Spta1 A G 1: 174,020,526 (GRCm39) H545R probably damaging Het
Tada3 A T 6: 113,343,968 (GRCm39) L227Q probably damaging Het
Tln1 C T 4: 43,549,151 (GRCm39) V644M probably damaging Het
Unc79 G A 12: 103,058,286 (GRCm39) V1016I probably benign Het
Usf3 C A 16: 44,037,269 (GRCm39) A583E probably damaging Het
Ush2a A C 1: 188,263,958 (GRCm39) I1612L probably damaging Het
Vmn2r6 T C 3: 64,447,333 (GRCm39) T578A probably benign Het
Zmat4 T A 8: 24,392,083 (GRCm39) M13K probably damaging Het
Other mutations in Pold4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01449:Pold4 APN 19 4,282,921 (GRCm39) splice site probably benign
R0206:Pold4 UTSW 19 4,282,593 (GRCm39) nonsense probably null
R1870:Pold4 UTSW 19 4,282,593 (GRCm39) nonsense probably null
R6825:Pold4 UTSW 19 4,282,164 (GRCm39) missense possibly damaging 0.91
R9260:Pold4 UTSW 19 4,282,904 (GRCm39) missense possibly damaging 0.93
Z1176:Pold4 UTSW 19 4,282,226 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GCACCCGAGCTAGGTCTCTAAAATG -3'
(R):5'- CGGCAGTTTCTTGAGCCTCCATAG -3'

Sequencing Primer
(F):5'- CCAGAAAGGACTCtgtgtgtg -3'
(R):5'- CTCCATAGTCAGTTTCAGGAGACAG -3'
Posted On 2013-05-09