Incidental Mutation 'IGL03115:Poldip2'
ID 419400
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Poldip2
Ensembl Gene ENSMUSG00000001100
Gene Name polymerase (DNA-directed), delta interacting protein 2
Synonyms 1300003F06Rik, mitogenin 1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03115
Quality Score
Status
Chromosome 11
Chromosomal Location 78403105-78413562 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 78411970 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000001127] [ENSMUST00000017759] [ENSMUST00000108277]
AlphaFold Q91VA6
Predicted Effect probably benign
Transcript: ENSMUST00000001127
SMART Domains Protein: ENSMUSP00000001127
Gene: ENSMUSG00000001100

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: ENSMUST00000017759
SMART Domains Protein: ENSMUSP00000017759
Gene: ENSMUSG00000017615

DomainStartEndE-ValueType
BTB 28 128 4.8e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108277
SMART Domains Protein: ENSMUSP00000103912
Gene: ENSMUSG00000017615

DomainStartEndE-ValueType
BTB 28 128 4.8e-18 SMART
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: ENSMUST00000147930
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151499
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 T A 14: 68,808,802 (GRCm39) H302L probably damaging Het
Adamts12 T A 15: 11,263,422 (GRCm39) C595S probably damaging Het
Arid2 G A 15: 96,268,154 (GRCm39) V756I probably damaging Het
Asah1 A T 8: 41,813,336 (GRCm39) W26R possibly damaging Het
Brinp1 C T 4: 68,822,973 (GRCm39) probably null Het
Cers2 A G 3: 95,228,663 (GRCm39) D162G probably damaging Het
Clasp1 G T 1: 118,429,053 (GRCm39) E106* probably null Het
Col12a1 T C 9: 79,588,719 (GRCm39) E1132G probably damaging Het
Dhdds G T 4: 133,710,182 (GRCm39) H196N probably benign Het
Eps8 T C 6: 137,504,379 (GRCm39) D118G probably damaging Het
Fmo9 A G 1: 166,505,220 (GRCm39) S7P probably damaging Het
Gamt A G 10: 80,094,272 (GRCm39) L197P probably damaging Het
Grb7 A G 11: 98,341,945 (GRCm39) I82V probably damaging Het
Hectd2 T C 19: 36,577,121 (GRCm39) probably null Het
Ilk T C 7: 105,389,542 (GRCm39) V83A probably damaging Het
Kif21a T A 15: 90,869,598 (GRCm39) I418F probably damaging Het
Kndc1 A G 7: 139,501,425 (GRCm39) I905V probably benign Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Morc3 T C 16: 93,667,971 (GRCm39) I710T probably damaging Het
Nefm T C 14: 68,357,728 (GRCm39) probably benign Het
Or10d5 T C 9: 39,862,040 (GRCm39) E9G probably damaging Het
Or2f2 A G 6: 42,767,599 (GRCm39) T209A probably benign Het
Or8g23 C A 9: 38,971,259 (GRCm39) R234S probably damaging Het
Pard6g T G 18: 80,123,068 (GRCm39) L34W probably damaging Het
Patj C T 4: 98,332,040 (GRCm39) S562L probably damaging Het
Pcsk4 A G 10: 80,164,883 (GRCm39) I61T probably damaging Het
Pcsk7 T A 9: 45,825,670 (GRCm39) H300Q probably damaging Het
Pip5kl1 A G 2: 32,470,033 (GRCm39) D288G probably damaging Het
Plxnb2 T A 15: 89,046,641 (GRCm39) probably benign Het
Ralgapa2 T C 2: 146,266,734 (GRCm39) Y614C probably damaging Het
Rarres1 C A 3: 67,403,145 (GRCm39) probably null Het
Samd3 C T 10: 26,147,606 (GRCm39) T427M probably damaging Het
Skap1 A G 11: 96,593,446 (GRCm39) I98V probably benign Het
Skint11 T C 4: 114,101,820 (GRCm39) S87P probably damaging Het
Slc22a22 T G 15: 57,126,670 (GRCm39) E133A probably damaging Het
Slc23a2 T C 2: 131,933,185 (GRCm39) Y91C probably damaging Het
Slc6a20b T A 9: 123,426,403 (GRCm39) E494V possibly damaging Het
Slco1a4 A T 6: 141,765,329 (GRCm39) D304E probably benign Het
Slco1a4 A C 6: 141,763,585 (GRCm39) M377R probably damaging Het
Srpk2 T C 5: 23,729,616 (GRCm39) probably null Het
Supt3 T G 17: 45,352,114 (GRCm39) C271W probably damaging Het
Taar7d C A 10: 23,903,539 (GRCm39) F140L probably benign Het
Tmbim7 T C 5: 3,729,158 (GRCm39) *225Q probably null Het
Tpst1 T C 5: 130,130,752 (GRCm39) I74T probably damaging Het
Utp3 T C 5: 88,703,179 (GRCm39) V236A possibly damaging Het
Vmn2r55 A T 7: 12,404,558 (GRCm39) F282I probably damaging Het
Vwa5b1 A T 4: 138,327,460 (GRCm39) I372N possibly damaging Het
Wtip C T 7: 33,824,958 (GRCm39) A209T probably damaging Het
Zbbx T C 3: 74,985,867 (GRCm39) D395G probably benign Het
Zfp273 A T 13: 67,973,769 (GRCm39) H299L probably damaging Het
Zfp459 G A 13: 67,556,796 (GRCm39) R96* probably null Het
Other mutations in Poldip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01959:Poldip2 APN 11 78,403,133 (GRCm39) unclassified probably benign
IGL02119:Poldip2 APN 11 78,408,734 (GRCm39) missense probably damaging 1.00
IGL02565:Poldip2 APN 11 78,408,678 (GRCm39) missense probably damaging 1.00
IGL02735:Poldip2 APN 11 78,403,162 (GRCm39) missense probably benign 0.04
F6893:Poldip2 UTSW 11 78,410,020 (GRCm39) missense probably damaging 1.00
IGL02980:Poldip2 UTSW 11 78,412,054 (GRCm39) missense probably damaging 1.00
R0255:Poldip2 UTSW 11 78,403,189 (GRCm39) missense probably benign 0.02
R0932:Poldip2 UTSW 11 78,403,294 (GRCm39) missense possibly damaging 0.52
R1014:Poldip2 UTSW 11 78,405,988 (GRCm39) missense probably damaging 1.00
R4797:Poldip2 UTSW 11 78,404,813 (GRCm39) missense probably damaging 1.00
R5505:Poldip2 UTSW 11 78,406,001 (GRCm39) missense probably benign
R6285:Poldip2 UTSW 11 78,408,458 (GRCm39) splice site probably null
R8917:Poldip2 UTSW 11 78,412,667 (GRCm39) missense probably damaging 1.00
R9480:Poldip2 UTSW 11 78,411,988 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02