Incidental Mutation 'R9377:Poldip3'
ID 709731
Institutional Source Beutler Lab
Gene Symbol Poldip3
Ensembl Gene ENSMUSG00000041815
Gene Name polymerase (DNA-directed), delta interacting protein 3
Synonyms 1110008P04Rik, PDIP46
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # R9377 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 83125976-83149384 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83135388 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 180 (N180S)
Ref Sequence ENSEMBL: ENSMUSP00000054548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058793] [ENSMUST00000100375] [ENSMUST00000129372]
AlphaFold Q8BG81
Predicted Effect probably benign
Transcript: ENSMUST00000058793
AA Change: N180S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000054548
Gene: ENSMUSG00000041815
AA Change: N180S

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
AA Change: N151S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097944
Gene: ENSMUSG00000041815
AA Change: N151S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700122O11Rik T C 17: 48,037,464 T55A probably benign Het
3110070M22Rik T A 13: 119,488,286 probably benign Het
Acot12 T A 13: 91,770,102 N171K probably benign Het
Adam18 G A 8: 24,614,843 Q652* probably null Het
Adgrv1 T C 13: 81,557,158 E791G probably damaging Het
Aff1 C T 5: 103,833,819 S608L probably damaging Het
Amfr A T 8: 93,980,390 F432L probably damaging Het
Ankfn1 G A 11: 89,441,458 L421F possibly damaging Het
Ankrd31 T C 13: 96,878,225 V1334A probably benign Het
Ascc3 C T 10: 50,732,762 H1534Y possibly damaging Het
Aste1 G A 9: 105,396,681 C40Y probably benign Het
Atf3 T C 1: 191,177,313 H53R probably benign Het
Bsn C A 9: 108,113,601 V1651F probably damaging Het
Bsn A T 9: 108,116,162 L797Q probably damaging Het
Bzw2 T C 12: 36,130,132 D32G probably damaging Het
Cacna1e A T 1: 154,485,712 M531K possibly damaging Het
Cep120 A G 18: 53,718,520 F567L possibly damaging Het
Cit T C 5: 115,946,855 I815T probably benign Het
Cnot6l G T 5: 96,128,967 Q121K probably benign Het
Col4a2 G A 8: 11,433,725 G882R probably damaging Het
Col6a3 A G 1: 90,816,239 F536L probably damaging Het
Copg2 T A 6: 30,816,786 H394L possibly damaging Het
Cst13 A G 2: 148,828,245 M112V possibly damaging Het
Cyp2j7 G T 4: 96,236,549 N37K probably benign Het
Cyp2u1 T A 3: 131,297,800 N357I possibly damaging Het
Dars T C 1: 128,417,208 T4A probably benign Het
Dclk1 G T 3: 55,521,953 C414F possibly damaging Het
Dmbt1 A T 7: 131,093,102 Y1009F unknown Het
Ebf4 T C 2: 130,306,855 Y117H probably damaging Het
Eif2b4 A G 5: 31,191,156 Y196H probably benign Het
Enpp2 C T 15: 54,875,684 R401H probably damaging Het
Epo T C 5: 137,485,755 probably benign Het
Gli1 T A 10: 127,337,490 T100S possibly damaging Het
Gml2 T A 15: 74,824,108 F117Y probably benign Het
Hivep1 T C 13: 42,181,927 V2314A probably benign Het
Hspb8 A G 5: 116,409,428 I165T probably damaging Het
Itgax A T 7: 128,133,677 T243S probably benign Het
Itih4 G T 14: 30,886,576 L16F probably damaging Het
Kmt5a C T 5: 124,440,001 probably benign Het
Lamc1 T C 1: 153,239,263 E1089G probably benign Het
Ltbp2 G A 12: 84,791,090 P1192L probably benign Het
Mcmbp A T 7: 128,716,079 N147K probably benign Het
Micalcl C T 7: 112,382,039 L407F probably benign Het
Mybpc2 A T 7: 44,509,575 V653D probably benign Het
Myo3b G A 2: 70,238,898 V522I possibly damaging Het
Nbr1 A G 11: 101,565,764 T156A possibly damaging Het
Neb T A 2: 52,149,279 probably null Het
Neb T A 2: 52,226,534 Y964F Het
Nr2f2 T A 7: 70,358,108 I209F probably damaging Het
Nwd2 A G 5: 63,800,397 T357A probably damaging Het
Palld C T 8: 61,516,657 R1211H unknown Het
Pcdhb19 T A 18: 37,499,246 V698E probably damaging Het
Pcdhga6 C T 18: 37,708,517 P430L probably damaging Het
Piezo2 A G 18: 63,029,085 L2225S possibly damaging Het
Plekhf1 A T 7: 38,221,779 W122R probably damaging Het
Pold3 A G 7: 100,083,786 S418P possibly damaging Het
Ppp1r21 C T 17: 88,545,387 R65* probably null Het
Ppp1r3d A T 2: 178,413,876 V111E probably damaging Het
Prrg4 T C 2: 104,839,383 I130V probably benign Het
Psma5 A T 3: 108,265,132 T55S probably benign Het
Rbm5 C A 9: 107,750,053 A440S probably benign Het
Rdx A G 9: 52,068,868 K254E possibly damaging Het
Rere A C 4: 150,508,885 Q312P unknown Het
Rest T C 5: 77,268,281 V114A possibly damaging Het
Rufy4 G T 1: 74,132,720 V201L probably benign Het
Scyl1 T C 19: 5,758,995 E727G probably benign Het
Serpinb6b T A 13: 32,968,511 M1K probably null Het
Sgsm1 C A 5: 113,288,875 V30F probably damaging Het
Skap1 A G 11: 96,754,095 D344G possibly damaging Het
Slc26a7 T C 4: 14,516,189 T547A probably benign Het
Slc6a3 C A 13: 73,544,847 S195R probably benign Het
Sorbs1 T C 19: 40,398,604 D6G probably damaging Het
Spock3 A T 8: 63,345,712 M253L probably damaging Het
Ssh2 A G 11: 77,408,148 Y107C possibly damaging Het
Svil T C 18: 5,057,294 S581P probably benign Het
Tbc1d14 T C 5: 36,505,128 T553A probably benign Het
Tet3 T A 6: 83,403,614 Q524L possibly damaging Het
Uckl1 A T 2: 181,569,739 V456E probably damaging Het
Ucp2 T C 7: 100,496,833 F4S probably benign Het
Vmn2r77 A G 7: 86,795,234 I32V probably benign Het
Vmn2r89 T A 14: 51,455,144 Y135N probably benign Het
Vtn A G 11: 78,499,761 E82G probably benign Het
Zfp758 A G 17: 22,374,944 N137S probably benign Het
Zgpat T A 2: 181,379,853 C357* probably null Het
Other mutations in Poldip3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00780:Poldip3 APN 15 83138479 missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- AATTAATGAGAGGCCTGTCCAC -3'
(R):5'- TGAAGCCTTTGGTCACACG -3'

Sequencing Primer
(F):5'- GAGAGGCCTGTCCACAACCTC -3'
(R):5'- TGTACTCGTGTGTCGCAC -3'
Posted On 2022-04-18