Incidental Mutation 'R3755:Poldip3'
ID 271408
Institutional Source Beutler Lab
Gene Symbol Poldip3
Ensembl Gene ENSMUSG00000041815
Gene Name polymerase (DNA-directed), delta interacting protein 3
Synonyms 1110008P04Rik, PDIP46
MMRRC Submission 040738-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R3755 (G1)
Quality Score 217
Status Validated
Chromosome 15
Chromosomal Location 83010177-83033585 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 83015676 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058793] [ENSMUST00000100375] [ENSMUST00000129372]
AlphaFold Q8BG81
Predicted Effect probably benign
Transcript: ENSMUST00000058793
SMART Domains Protein: ENSMUSP00000054548
Gene: ENSMUSG00000041815

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 benign
Transcript: ENSMUST00000100375
SMART Domains Protein: ENSMUSP00000097944
Gene: ENSMUSG00000041815

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 benign
Transcript: ENSMUST00000129372
SMART Domains Protein: ENSMUSP00000120859
Gene: ENSMUSG00000041815

DomainStartEndE-ValueType
low complexity region 153 162 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135013
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149802
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 96% (50/52)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik C A 10: 29,098,110 (GRCm39) S169Y probably damaging Het
Abcb1a G A 5: 8,797,403 (GRCm39) V1225M possibly damaging Het
Adamdec1 A T 14: 68,814,587 (GRCm39) I130N probably damaging Het
Atf7ip T A 6: 136,537,815 (GRCm39) N357K probably benign Het
Bace2 C G 16: 97,237,857 (GRCm39) T436R probably benign Het
Capn13 G A 17: 73,638,114 (GRCm39) Q430* probably null Het
Ccdc30 A T 4: 119,225,005 (GRCm39) probably null Het
Ces5a T C 8: 94,255,130 (GRCm39) T184A probably benign Het
Cntnap5c T C 17: 58,411,594 (GRCm39) C493R possibly damaging Het
Creb3l2 A T 6: 37,340,961 (GRCm39) I146N possibly damaging Het
Erich3 A G 3: 154,469,958 (GRCm39) probably benign Het
Etl4 G A 2: 20,748,348 (GRCm39) V27I probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fsip2 G A 2: 82,808,561 (GRCm39) D1627N probably benign Het
Gcdh A G 8: 85,620,109 (GRCm39) probably benign Het
Kcna7 T C 7: 45,058,369 (GRCm39) F219L probably benign Het
Kdm3b T C 18: 34,941,349 (GRCm39) L280S probably benign Het
Knl1 T A 2: 118,933,060 (GRCm39) V2073D probably damaging Het
Kprp A G 3: 92,732,346 (GRCm39) S235P unknown Het
Lpp A G 16: 24,663,911 (GRCm39) H396R probably benign Het
Lrch4 T A 5: 137,635,992 (GRCm39) D348E probably damaging Het
Mcm9 T C 10: 53,502,048 (GRCm39) N179S probably benign Het
Mettl13 T C 1: 162,371,789 (GRCm39) E360G probably damaging Het
Nfib A T 4: 82,241,936 (GRCm39) S418R probably damaging Het
Or52b1 A G 7: 104,979,358 (GRCm39) F14L probably damaging Het
Or8s2 A C 15: 98,276,463 (GRCm39) I176S probably benign Het
Pcdha8 G A 18: 37,126,741 (GRCm39) V408M probably damaging Het
Pcdhb3 T C 18: 37,435,878 (GRCm39) F615L probably damaging Het
Pkd1l3 C T 8: 110,359,171 (GRCm39) T844I probably damaging Het
Pkhd1l1 A T 15: 44,452,802 (GRCm39) E3909V probably damaging Het
Ptpn1 T C 2: 167,816,143 (GRCm39) I219T probably damaging Het
Rad18 T C 6: 112,670,432 (GRCm39) N44S probably damaging Het
Reep5 T C 18: 34,505,527 (GRCm39) Y48C probably damaging Het
Rgl2 C A 17: 34,151,571 (GRCm39) A205D probably benign Het
Rundc3a A G 11: 102,290,085 (GRCm39) I175V possibly damaging Het
Slamf1 C T 1: 171,604,728 (GRCm39) A166V probably damaging Het
Slc4a5 A G 6: 83,265,285 (GRCm39) D693G probably benign Het
Snap23 T A 2: 120,416,726 (GRCm39) C79S probably damaging Het
Spag6l A C 16: 16,580,884 (GRCm39) probably null Het
Trappc13 C T 13: 104,305,068 (GRCm39) D40N probably benign Het
Trav4-3 C A 14: 53,836,596 (GRCm39) S20R probably benign Het
Tssk2 G A 16: 17,716,827 (GRCm39) E77K probably damaging Het
Ubap2 A G 4: 41,195,482 (GRCm39) F1051S probably damaging Het
Ugt3a1 A G 15: 9,367,498 (GRCm39) T414A probably benign Het
Urod C T 4: 116,850,601 (GRCm39) C66Y probably damaging Het
Vmn1r234 A G 17: 21,449,271 (GRCm39) K62E probably damaging Het
Wiz A G 17: 32,578,106 (GRCm39) S460P probably damaging Het
Zbbx C T 3: 75,012,978 (GRCm39) G151E probably damaging Het
Zbtb7a C T 10: 80,980,100 (GRCm39) T98M probably damaging Het
Zfp524 C A 7: 5,020,884 (GRCm39) H137Q probably damaging Het
Other mutations in Poldip3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00780:Poldip3 APN 15 83,022,680 (GRCm39) missense probably damaging 1.00
IGL02887:Poldip3 APN 15 83,013,469 (GRCm39) unclassified probably benign
R0143:Poldip3 UTSW 15 83,012,144 (GRCm39) missense probably damaging 1.00
R0201:Poldip3 UTSW 15 83,019,497 (GRCm39) missense probably benign 0.00
R0511:Poldip3 UTSW 15 83,022,436 (GRCm39) missense probably damaging 1.00
R1560:Poldip3 UTSW 15 83,022,527 (GRCm39) missense probably damaging 1.00
R2302:Poldip3 UTSW 15 83,013,469 (GRCm39) unclassified probably benign
R3756:Poldip3 UTSW 15 83,015,676 (GRCm39) unclassified probably benign
R4785:Poldip3 UTSW 15 83,015,702 (GRCm39) missense probably damaging 1.00
R4917:Poldip3 UTSW 15 83,016,776 (GRCm39) critical splice donor site probably null
R4965:Poldip3 UTSW 15 83,021,706 (GRCm39) missense possibly damaging 0.80
R5009:Poldip3 UTSW 15 83,017,395 (GRCm39) missense probably damaging 1.00
R5030:Poldip3 UTSW 15 83,022,392 (GRCm39) missense possibly damaging 0.67
R5992:Poldip3 UTSW 15 83,013,430 (GRCm39) missense probably damaging 0.96
R6638:Poldip3 UTSW 15 83,017,401 (GRCm39) missense probably damaging 1.00
R7028:Poldip3 UTSW 15 83,015,698 (GRCm39) missense probably damaging 1.00
R9377:Poldip3 UTSW 15 83,019,589 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TATGGCAATCGGCTTTCCCAAC -3'
(R):5'- GCAGTGCAGTCTTTGGAGAG -3'

Sequencing Primer
(F):5'- GACCCTTTAAGAGACTCATCCACTG -3'
(R):5'- GGCAAGTGGTCTGCATGTCC -3'
Posted On 2015-03-18