Incidental Mutation 'IGL02735:Poldip2'
ID305638
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Poldip2
Ensembl Gene ENSMUSG00000001100
Gene Namepolymerase (DNA-directed), delta interacting protein 2
Synonymsmitogenin 1, 1300003F06Rik
Accession Numbers

Genbank: NM_026389; MGI: 1915061

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02735
Quality Score
Status
Chromosome11
Chromosomal Location78512193-78522736 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 78512336 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 9 (A9T)
Ref Sequence ENSEMBL: ENSMUSP00000001127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001127] [ENSMUST00000052566]
Predicted Effect probably benign
Transcript: ENSMUST00000001127
AA Change: A9T

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000001127
Gene: ENSMUSG00000001100
AA Change: A9T

DomainStartEndE-ValueType
low complexity region 29 47 N/A INTRINSIC
YccV-like 74 210 1.03e-39 SMART
Pfam:DUF525 252 338 2.3e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000052566
SMART Domains Protein: ENSMUSP00000058599
Gene: ENSMUSG00000051232

DomainStartEndE-ValueType
Pfam:Vma12 78 204 1e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132433
Predicted Effect probably benign
Transcript: ENSMUST00000133601
SMART Domains Protein: ENSMUSP00000127708
Gene: ENSMUSG00000001100

DomainStartEndE-ValueType
YccV-like 40 176 1.03e-39 SMART
Pfam:DUF525 218 278 4.9e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135946
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136284
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147930
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148393
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156754
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 encodes a protein that interacts with the DNA polymerase delta p50 subunit, as well as with proliferating cell nuclear antigen. The encoded protein maybe play a role in the ability of the replication fork to bypass DNA lesions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit preweaning lethality and decreased body size. Mice heterozygous for this allele exhibit abnormal induced vasoconstriction and vasodilation with abnormal aorta elastic tissue morphology. [provided by MGI curators]
Allele List at MGI

All alleles(34) : Gene trapped(34)

Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Acss1 A T 2: 150,638,467 V228E probably damaging Het
Ampd1 T A 3: 103,085,377 M145K probably damaging Het
Ankhd1 G A 18: 36,648,546 S2217N probably benign Het
Asph T A 4: 9,598,759 D211V probably damaging Het
C87414 G A 5: 93,638,644 P89S possibly damaging Het
Cd55b A T 1: 130,388,676 W379R probably damaging Het
Derl3 A G 10: 75,895,116 T201A probably damaging Het
Efcab6 A G 15: 83,899,697 L1008P probably damaging Het
Eif4g3 A G 4: 138,126,211 I363V probably benign Het
Heatr5a A G 12: 51,915,021 F1058L probably damaging Het
Hmcn1 A T 1: 150,646,832 M3439K probably benign Het
Ift140 C A 17: 25,034,035 probably benign Het
Itgad A G 7: 128,193,716 Y832C probably damaging Het
Itgb2 T A 10: 77,549,999 D265E possibly damaging Het
Kif19a A T 11: 114,785,567 E449V probably damaging Het
Krt40 T C 11: 99,538,635 E291G probably damaging Het
Lama2 T C 10: 27,104,128 N1897S probably damaging Het
Lepr A G 4: 101,782,638 Y767C probably damaging Het
Lrrtm4 A G 6: 80,809,050 H546R probably benign Het
March6 A G 15: 31,486,120 S362P probably benign Het
Med12l A G 3: 59,093,646 Y734C probably damaging Het
Mrps18a C T 17: 46,122,799 R74C probably damaging Het
Mvk A G 5: 114,450,819 E174G probably benign Het
Naip2 A G 13: 100,160,214 S1105P probably damaging Het
Nrxn3 A G 12: 89,254,854 M468V probably benign Het
Obscn T C 11: 59,093,349 E1760G probably damaging Het
Pcsk5 C A 19: 17,675,468 G285W probably damaging Het
Pgpep1l A G 7: 68,236,973 I196T probably benign Het
Phf14 T C 6: 11,987,612 M630T probably benign Het
Plod2 T C 9: 92,595,389 probably benign Het
Pou2f1 A G 1: 165,875,827 S718P probably damaging Het
Ptpre A T 7: 135,667,567 Y246F probably damaging Het
Pudp T C 18: 50,568,332 H110R probably benign Het
Scaf4 C T 16: 90,245,515 G646E unknown Het
Sec16a T A 2: 26,428,137 probably benign Het
Serpina5 A G 12: 104,103,857 T338A probably benign Het
Shisa5 T G 9: 109,056,012 F118V probably damaging Het
Slc6a21 G A 7: 45,286,637 probably benign Het
Sprtn T A 8: 124,903,387 V473E probably benign Het
Styxl1 A G 5: 135,759,142 I165T probably damaging Het
Tal2 T A 4: 53,785,906 I29N probably damaging Het
Tas2r134 T C 2: 51,627,827 I106T probably damaging Het
Tmem259 G A 10: 79,979,139 T217I probably damaging Het
Trpc6 T C 9: 8,655,338 I723T probably damaging Het
Vmn1r211 A T 13: 22,852,248 V83D probably damaging Het
Vmn2r103 G T 17: 19,812,248 M761I probably benign Het
Ybey A T 10: 76,468,326 I14N probably damaging Het
Other mutations in Poldip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01959:Poldip2 APN 11 78512307 unclassified probably benign
IGL02119:Poldip2 APN 11 78517908 missense probably damaging 1.00
IGL02565:Poldip2 APN 11 78517852 missense probably damaging 1.00
IGL03115:Poldip2 APN 11 78521144 splice site probably benign
F6893:Poldip2 UTSW 11 78519194 missense probably damaging 1.00
IGL02980:Poldip2 UTSW 11 78521228 missense probably damaging 1.00
R0255:Poldip2 UTSW 11 78512363 missense probably benign 0.02
R0932:Poldip2 UTSW 11 78512468 missense possibly damaging 0.52
R1014:Poldip2 UTSW 11 78515162 missense probably damaging 1.00
R4797:Poldip2 UTSW 11 78513987 missense probably damaging 1.00
R5505:Poldip2 UTSW 11 78515175 missense probably benign
R6285:Poldip2 UTSW 11 78517632 splice site probably null
Posted On2015-04-16