Incidental Mutation 'IGL02141:Pole4'
ID 281550
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pole4
Ensembl Gene ENSMUSG00000030042
Gene Name polymerase (DNA-directed), epsilon 4 (p12 subunit)
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL02141
Quality Score
Status
Chromosome 6
Chromosomal Location 82618992-82705365 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 82648034 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 116 (T116A)
Ref Sequence ENSEMBL: ENSMUSP00000093462 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095786] [ENSMUST00000160281]
AlphaFold Q9CQ36
Predicted Effect probably benign
Transcript: ENSMUST00000095786
AA Change: T116A

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000093462
Gene: ENSMUSG00000030042
AA Change: T116A

DomainStartEndE-ValueType
low complexity region 10 35 N/A INTRINSIC
Pfam:Histone 38 107 2.2e-13 PFAM
Pfam:CBFD_NFYB_HMF 40 104 1.2e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140281
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141138
Predicted Effect probably benign
Transcript: ENSMUST00000160281
SMART Domains Protein: ENSMUSP00000124357
Gene: ENSMUSG00000030042

DomainStartEndE-ValueType
Pfam:Histone 11 107 4e-14 PFAM
Pfam:CBFD_NFYB_HMF 40 104 9.8e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161309
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] POLE4 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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik C T 5: 146,183,465 A188T probably benign Het
2310022B05Rik A T 8: 124,637,906 probably benign Het
4931423N10Rik T C 2: 23,230,200 F203L probably damaging Het
Arntl2 T A 6: 146,828,095 probably benign Het
Atf6b C A 17: 34,653,277 H539Q probably benign Het
Bpifb5 G T 2: 154,229,557 probably null Het
Cep89 T A 7: 35,420,924 M377K probably damaging Het
Clpx G T 9: 65,312,118 probably null Het
Cops5 T C 1: 10,035,117 K47E probably damaging Het
Cryba2 T C 1: 74,892,784 N35S probably benign Het
Ddx27 A G 2: 167,020,523 K162E possibly damaging Het
Dhx36 A G 3: 62,493,889 S319P probably benign Het
Dram2 A G 3: 106,571,696 probably benign Het
Eci2 T A 13: 34,978,673 T300S probably benign Het
Egf C A 3: 129,739,982 G70* probably null Het
Eif5b T C 1: 38,032,322 V444A probably benign Het
Elf3 T C 1: 135,257,707 D23G possibly damaging Het
Epb41l4b A T 4: 57,103,422 probably null Het
Fam167a T A 14: 63,452,259 S2T probably benign Het
Flrt3 A G 2: 140,660,688 V340A probably damaging Het
Gimap3 T C 6: 48,765,378 E206G probably benign Het
Gp6 T C 7: 4,394,104 probably benign Het
Gpr158 A T 2: 21,783,290 M581L probably damaging Het
Hapln3 A G 7: 79,118,145 V167A probably damaging Het
Hnrnpll G A 17: 80,050,713 T203I probably benign Het
Ighv3-6 A G 12: 114,288,362 I47T probably damaging Het
Iqgap1 G A 7: 80,738,121 T926M probably damaging Het
Lonp1 A T 17: 56,615,086 S765T probably benign Het
Lpp C T 16: 24,761,615 S27F probably damaging Het
Lrit2 T C 14: 37,068,074 probably benign Het
Luc7l C A 17: 26,253,080 T17K probably damaging Het
Mroh1 G T 15: 76,446,599 S1161I possibly damaging Het
Muc5b T G 7: 141,853,367 C1091G unknown Het
Mut A G 17: 40,938,817 T228A possibly damaging Het
Nppb A T 4: 147,986,006 I11F probably benign Het
Nsf A T 11: 103,828,525 D650E probably benign Het
Ogdh A G 11: 6,355,015 K907E probably damaging Het
Olfr1351 A G 10: 79,017,721 Y133C probably damaging Het
Olfr344 A G 2: 36,568,808 D70G probably damaging Het
Olfr362 G A 2: 37,105,425 S75F probably benign Het
Pcnx A T 12: 81,860,382 Q4L possibly damaging Het
Pgc T A 17: 47,726,931 L9H probably damaging Het
Pikfyve T A 1: 65,246,397 S887T probably benign Het
Plec T C 15: 76,175,615 D3239G probably damaging Het
Prpf8 A G 11: 75,490,672 N300D possibly damaging Het
Rara T A 11: 98,968,081 Y119N probably damaging Het
Rbck1 G T 2: 152,318,374 R462S possibly damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Slfn2 C A 11: 83,069,844 N216K probably benign Het
Suox A G 10: 128,672,098 probably benign Het
Tars T A 15: 11,391,194 Y283F probably damaging Het
Trpm4 A T 7: 45,318,179 probably null Het
Ubtd2 A T 11: 32,499,262 K36N probably benign Het
Unkl T C 17: 25,229,434 L327P probably damaging Het
Vmn1r11 T A 6: 57,137,379 Y9* probably null Het
Vps13b T C 15: 35,572,081 V948A probably benign Het
Zbtb17 A G 4: 141,464,953 H403R probably damaging Het
Other mutations in Pole4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1792:Pole4 UTSW 6 82,652,740 (GRCm38) missense unknown
R1792:Pole4 UTSW 6 82,652,739 (GRCm38) missense unknown
R3767:Pole4 UTSW 6 82,622,114 (GRCm38) missense possibly damaging 0.59
R3768:Pole4 UTSW 6 82,622,114 (GRCm38) missense possibly damaging 0.59
R3769:Pole4 UTSW 6 82,622,114 (GRCm38) missense possibly damaging 0.59
R3770:Pole4 UTSW 6 82,622,114 (GRCm38) missense possibly damaging 0.59
R5534:Pole4 UTSW 6 82,652,134 (GRCm38) missense possibly damaging 0.51
R5741:Pole4 UTSW 6 82,651,466 (GRCm38) missense probably damaging 0.96
R9613:Pole4 UTSW 6 82,652,118 (GRCm38) missense probably benign 0.26
Posted On 2015-04-16