Incidental Mutation 'IGL00780:Poldip3'
ID13084
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Poldip3
Ensembl Gene ENSMUSG00000041815
Gene Namepolymerase (DNA-directed), delta interacting protein 3
Synonyms1110008P04Rik, PDIP46
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.242) question?
Stock #IGL00780
Quality Score
Status
Chromosome15
Chromosomal Location83125976-83149384 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 83138479 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Arginine at position 35 (G35R)
Ref Sequence ENSEMBL: ENSMUSP00000120859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058793] [ENSMUST00000100375] [ENSMUST00000129372]
Predicted Effect probably damaging
Transcript: ENSMUST00000058793
AA Change: G35R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054548
Gene: ENSMUSG00000041815
AA Change: G35R

DomainStartEndE-ValueType
low complexity region 183 196 N/A INTRINSIC
low complexity region 214 223 N/A INTRINSIC
low complexity region 260 272 N/A INTRINSIC
RRM 281 347 5.05e-11 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000100375
AA Change: G35R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097944
Gene: ENSMUSG00000041815
AA Change: G35R

DomainStartEndE-ValueType
low complexity region 154 167 N/A INTRINSIC
low complexity region 185 194 N/A INTRINSIC
low complexity region 231 243 N/A INTRINSIC
RRM 252 318 5.05e-11 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000129372
AA Change: G35R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120859
Gene: ENSMUSG00000041815
AA Change: G35R

DomainStartEndE-ValueType
low complexity region 153 162 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135013
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149802
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150926
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 an RRM (RNA recognition motif)-containing protein that participates in the regulation of translation by recruiting ribosomal protein S6 kinase beta-1 to mRNAs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330182L06Rik A G 5: 9,422,367 T355A probably damaging Het
Abi3bp A G 16: 56,602,805 D440G probably null Het
Acvrl1 T A 15: 101,137,367 F258Y probably damaging Het
Ano1 A G 7: 144,655,630 S278P probably damaging Het
AW146154 T C 7: 41,480,459 Y411C probably damaging Het
Blnk T A 19: 40,934,446 K412M probably benign Het
Clpb C T 7: 101,778,608 R387* probably null Het
Dach1 A T 14: 97,901,422 N528K possibly damaging Het
Dag1 A T 9: 108,209,619 W108R probably damaging Het
Fbn2 T C 18: 58,095,988 T717A probably damaging Het
Fnbp1l T C 3: 122,549,249 D394G possibly damaging Het
Gaa T A 11: 119,274,291 probably null Het
Gpr158 A T 2: 21,826,818 K910* probably null Het
Grb14 G A 2: 64,914,718 P99S probably damaging Het
Gtf2h2 T C 13: 100,479,221 D264G probably benign Het
Heatr3 A G 8: 88,170,940 I667V probably benign Het
Hsp90ab1 T C 17: 45,569,564 N407S probably damaging Het
Htr2a A T 14: 74,706,205 L408F possibly damaging Het
Itgb5 G A 16: 33,884,975 V212I probably damaging Het
Kmt2c G A 5: 25,311,051 T2598I probably benign Het
Lcorl T C 5: 45,747,295 N137S probably damaging Het
Lef1 T C 3: 131,193,130 F212L possibly damaging Het
Map2k5 T C 9: 63,281,077 probably benign Het
Med15 G A 16: 17,653,487 T642I probably damaging Het
Nasp C A 4: 116,603,999 E274* probably null Het
Nup210l A T 3: 90,190,849 probably benign Het
Pgghg T C 7: 140,945,351 probably null Het
Plpp1 A G 13: 112,851,506 I54M probably damaging Het
Ppig A T 2: 69,732,924 E81D possibly damaging Het
Ptpn21 G T 12: 98,680,371 T999K probably damaging Het
Rad9b T C 5: 122,344,247 I142V probably benign Het
Ralgps1 A T 2: 33,273,627 H139Q probably damaging Het
Rdh16f2 T C 10: 127,875,092 probably null Het
Sema3d G A 5: 12,524,326 R265Q probably damaging Het
Svs1 A G 6: 48,987,739 D227G probably damaging Het
Tdp1 T C 12: 99,893,648 V198A possibly damaging Het
Trim43c A T 9: 88,841,856 D145V probably benign Het
Trpc4 C T 3: 54,302,175 P654S probably damaging Het
Yy1 T G 12: 108,815,537 I376S probably damaging Het
Zfp773 T A 7: 7,133,114 Q161L probably benign Het
Other mutations in Poldip3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02887:Poldip3 APN 15 83129268 unclassified probably benign
R0143:Poldip3 UTSW 15 83127943 missense probably damaging 1.00
R0201:Poldip3 UTSW 15 83135296 missense probably benign 0.00
R0511:Poldip3 UTSW 15 83138235 missense probably damaging 1.00
R1560:Poldip3 UTSW 15 83138326 missense probably damaging 1.00
R2302:Poldip3 UTSW 15 83129268 unclassified probably benign
R3755:Poldip3 UTSW 15 83131475 unclassified probably benign
R3756:Poldip3 UTSW 15 83131475 unclassified probably benign
R4785:Poldip3 UTSW 15 83131501 missense probably damaging 1.00
R4917:Poldip3 UTSW 15 83132575 critical splice donor site probably null
R4965:Poldip3 UTSW 15 83137505 missense possibly damaging 0.80
R5009:Poldip3 UTSW 15 83133194 missense probably damaging 1.00
R5030:Poldip3 UTSW 15 83138191 missense possibly damaging 0.67
R5992:Poldip3 UTSW 15 83129229 missense probably damaging 0.96
R6638:Poldip3 UTSW 15 83133200 missense probably damaging 1.00
R7028:Poldip3 UTSW 15 83131497 missense probably damaging 1.00
Posted On2012-12-06