Incidental Mutation 'IGL02119:Poldip2'
ID 280496
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 # IGL02119
Quality Score
Chromosome 11
Chromosomal Location 78403105-78413562 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 78408734 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 200 (F200I)
Ref Sequence ENSEMBL: ENSMUSP00000001127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001127] [ENSMUST00000017759] [ENSMUST00000108277]
AlphaFold Q91VA6
Predicted Effect probably damaging
Transcript: ENSMUST00000001127
AA Change: F200I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001127
Gene: ENSMUSG00000001100
AA Change: F200I

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

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

BTB 28 128 4.8e-18 SMART
Predicted Effect unknown
Transcript: ENSMUST00000133601
AA Change: F165I
SMART Domains Protein: ENSMUSP00000127708
Gene: ENSMUSG00000001100
AA Change: F165I

YccV-like 40 176 1.03e-39 SMART
Pfam:DUF525 218 278 4.9e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136284
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,158,344 (GRCm39) probably null Het
Acsbg2 T C 17: 57,175,459 (GRCm39) probably benign Het
Ap3b1 T C 13: 94,598,911 (GRCm39) V495A probably benign Het
Astn1 T C 1: 158,338,724 (GRCm39) probably benign Het
Bora A G 14: 99,290,974 (GRCm39) D94G probably damaging Het
Bpifb9b G T 2: 154,155,544 (GRCm39) V348L possibly damaging Het
Cd160 A T 3: 96,716,139 (GRCm39) I17N possibly damaging Het
Cyp2d11 A C 15: 82,274,265 (GRCm39) I372S probably damaging Het
Dennd2c T A 3: 103,044,559 (GRCm39) V380D probably damaging Het
Fat4 C T 3: 39,037,088 (GRCm39) A3580V probably benign Het
Filip1 A G 9: 79,725,548 (GRCm39) S1024P probably benign Het
Flnc G A 6: 29,447,511 (GRCm39) E1105K probably damaging Het
Gbp4 T A 5: 105,268,908 (GRCm39) E415V probably benign Het
Gdap1l1 T A 2: 163,295,588 (GRCm39) F224Y probably damaging Het
Gm11146 A T 16: 77,385,498 (GRCm39) probably null Het
Gsn G T 2: 35,192,507 (GRCm39) R485L probably damaging Het
Havcr1 A G 11: 46,666,320 (GRCm39) Y261C probably damaging Het
Maneal A T 4: 124,752,960 (GRCm39) I229N probably benign Het
Med24 A T 11: 98,619,661 (GRCm39) M27K probably benign Het
Nipsnap2 T A 5: 129,825,056 (GRCm39) probably benign Het
Noa1 T A 5: 77,455,426 (GRCm39) Q430L probably benign Het
Or1l4 C A 2: 37,091,281 (GRCm39) S9R possibly damaging Het
Or5d47 T A 2: 87,804,754 (GRCm39) N85I probably benign Het
Or7g12 T C 9: 18,899,908 (GRCm39) V208A probably benign Het
Or8h9 T C 2: 86,789,527 (GRCm39) I92V probably benign Het
Pde3a T A 6: 141,405,529 (GRCm39) S460R probably damaging Het
Pdzd8 T C 19: 59,288,922 (GRCm39) Q826R possibly damaging Het
Pfkfb4 C T 9: 108,854,178 (GRCm39) R351W probably damaging Het
Pikfyve T A 1: 65,311,730 (GRCm39) I1989N probably damaging Het
Prodh2 T C 7: 30,205,929 (GRCm39) V208A probably damaging Het
Ranbp10 T C 8: 106,553,635 (GRCm39) D89G probably damaging Het
Rbm33 T A 5: 28,544,015 (GRCm39) S90R probably damaging Het
Slc44a4 A C 17: 35,147,637 (GRCm39) D441A probably damaging Het
Slc4a10 A T 2: 62,059,014 (GRCm39) I174F probably damaging Het
Smim17 T C 7: 6,430,160 (GRCm39) probably benign Het
Tln1 T C 4: 43,546,760 (GRCm39) E872G probably damaging Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Top2b T C 14: 16,406,733 (GRCm38) L625S probably damaging Het
Vmn2r59 A G 7: 41,695,593 (GRCm39) V273A probably benign Het
Vmn2r9 G A 5: 108,991,502 (GRCm39) L620F probably damaging Het
Whrn T G 4: 63,353,724 (GRCm39) K348Q probably damaging Het
Zc3h14 T C 12: 98,730,154 (GRCm39) V399A probably benign Het
Other mutations in Poldip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01959:Poldip2 APN 11 78,403,133 (GRCm39) unclassified probably benign
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
IGL03115:Poldip2 APN 11 78,411,970 (GRCm39) splice site probably benign
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 2015-04-16