Incidental Mutation 'IGL02119:Poldip2'
ID280496
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 #IGL02119
Quality Score
Status
Chromosome11
Chromosomal Location78512193-78522736 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 78517908 bp
ZygosityHeterozygous
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]
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

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 unknown
Transcript: ENSMUST00000133601
AA Change: F165I
SMART Domains Protein: ENSMUSP00000127708
Gene: ENSMUSG00000001100
AA Change: F165I

DomainStartEndE-ValueType
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: 69,328,000 probably null Het
Acsbg2 T C 17: 56,868,459 probably benign Het
Ap3b1 T C 13: 94,462,403 V495A probably benign Het
Astn1 T C 1: 158,511,154 probably benign Het
Bora A G 14: 99,053,538 D94G probably damaging Het
Bpifb9b G T 2: 154,313,624 V348L possibly damaging Het
Cd160 A T 3: 96,808,823 I17N possibly damaging Het
Cyp2d11 A C 15: 82,390,064 I372S probably damaging Het
Dennd2c T A 3: 103,137,243 V380D probably damaging Het
Fat4 C T 3: 38,982,939 A3580V probably benign Het
Filip1 A G 9: 79,818,266 S1024P probably benign Het
Flnc G A 6: 29,447,512 E1105K probably damaging Het
Gbp4 T A 5: 105,121,042 E415V probably benign Het
Gdap1l1 T A 2: 163,453,668 F224Y probably damaging Het
Gm11146 A T 16: 77,588,610 probably null Het
Gsn G T 2: 35,302,495 R485L probably damaging Het
Havcr1 A G 11: 46,775,493 Y261C probably damaging Het
Maneal A T 4: 124,859,167 I229N probably benign Het
Med24 A T 11: 98,728,835 M27K probably benign Het
Nipsnap2 T A 5: 129,747,992 probably benign Het
Noa1 T A 5: 77,307,579 Q430L probably benign Het
Olfr1099 T C 2: 86,959,183 I92V probably benign Het
Olfr365 C A 2: 37,201,269 S9R possibly damaging Het
Olfr74 T A 2: 87,974,410 N85I probably benign Het
Olfr834 T C 9: 18,988,612 V208A probably benign Het
Pde3a T A 6: 141,459,803 S460R probably damaging Het
Pdzd8 T C 19: 59,300,490 Q826R possibly damaging Het
Pfkfb4 C T 9: 109,025,110 R351W probably damaging Het
Pikfyve T A 1: 65,272,571 I1989N probably damaging Het
Prodh2 T C 7: 30,506,504 V208A probably damaging Het
Ranbp10 T C 8: 105,827,003 D89G probably damaging Het
Rbm33 T A 5: 28,339,017 S90R probably damaging Het
Slc44a4 A C 17: 34,928,661 D441A probably damaging Het
Slc4a10 A T 2: 62,228,670 I174F probably damaging Het
Smim17 T C 7: 6,427,161 probably benign Het
Tln1 T C 4: 43,546,760 E872G probably damaging Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Top2b T C 14: 16,406,733 L625S probably damaging Het
Vmn2r59 A G 7: 42,046,169 V273A probably benign Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Whrn T G 4: 63,435,487 K348Q probably damaging Het
Zc3h14 T C 12: 98,763,895 V399A probably benign Het
Other mutations in Poldip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01959:Poldip2 APN 11 78512307 unclassified probably benign
IGL02565:Poldip2 APN 11 78517852 missense probably damaging 1.00
IGL02735:Poldip2 APN 11 78512336 missense probably benign 0.04
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