Incidental Mutation 'R3176:Dtx3l'
ID 476021
Institutional Source Beutler Lab
Gene Symbol Dtx3l
Ensembl Gene ENSMUSG00000049502
Gene Name deltex 3-like, E3 ubiquitin ligase
Synonyms
MMRRC Submission 040614-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.436) question?
Stock # R3176 (G1)
Quality Score 211
Status Not validated
Chromosome 16
Chromosomal Location 35746885-35759397 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35752543 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 688 (S688P)
Ref Sequence ENSEMBL: ENSMUSP00000110535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081933] [ENSMUST00000114885]
AlphaFold Q3UIR3
Predicted Effect probably benign
Transcript: ENSMUST00000081933
SMART Domains Protein: ENSMUSP00000080601
Gene: ENSMUSG00000049502

DomainStartEndE-ValueType
low complexity region 54 69 N/A INTRINSIC
RING 569 607 5.82e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114885
AA Change: S688P

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000110535
Gene: ENSMUSG00000049502
AA Change: S688P

DomainStartEndE-ValueType
low complexity region 54 69 N/A INTRINSIC
RING 569 607 5.82e-6 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 100% (28/28)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DTX3L functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 C T 8: 87,233,495 (GRCm39) R1269H probably damaging Het
Ace A G 11: 105,867,528 (GRCm39) E164G probably null Het
Als2 A T 1: 59,209,167 (GRCm39) V1464E possibly damaging Het
Atox1 A G 11: 55,341,379 (GRCm39) L52P possibly damaging Het
Btnl10 A G 11: 58,813,216 (GRCm39) K282E probably benign Het
Cdkn3 T C 14: 47,008,934 (GRCm39) probably benign Het
Ces2a A G 8: 105,466,010 (GRCm39) probably benign Het
Col16a1 A G 4: 129,951,792 (GRCm39) K72E probably damaging Het
Col6a5 G A 9: 105,788,306 (GRCm39) R1565* probably null Het
Col6a6 T C 9: 105,663,429 (GRCm39) H36R probably benign Het
Cyp4b1 T C 4: 115,483,047 (GRCm39) N415D possibly damaging Het
Dcp1a A G 14: 30,227,499 (GRCm39) probably benign Het
Dennd4a G T 9: 64,796,275 (GRCm39) R767L probably damaging Het
Dhcr24 T C 4: 106,418,436 (GRCm39) F25L probably benign Het
Dhrs3 A G 4: 144,650,510 (GRCm39) T219A probably benign Het
Dhx58 A G 11: 100,587,805 (GRCm39) F584S probably damaging Het
Dmbt1 A G 7: 130,689,801 (GRCm39) T715A probably benign Het
Eogt T A 6: 97,108,355 (GRCm39) I229F probably benign Het
Ern2 T C 7: 121,780,187 (GRCm39) T164A possibly damaging Het
Fam133b A T 5: 3,608,522 (GRCm39) N84I probably damaging Het
Fbxl21 T A 13: 56,684,935 (GRCm39) Y346* probably null Het
Fcgbp C A 7: 27,791,086 (GRCm39) H782Q probably damaging Het
Gm5592 A G 7: 40,937,804 (GRCm39) E362G probably benign Het
Gpatch2l A G 12: 86,291,089 (GRCm39) T91A possibly damaging Het
Hao2 T C 3: 98,787,644 (GRCm39) probably benign Het
Hsp90aa1 T A 12: 110,662,114 (GRCm39) M1L possibly damaging Het
Hsp90aa1 C A 12: 110,662,115 (GRCm39) probably null Het
Itgad C A 7: 127,790,153 (GRCm39) H651N possibly damaging Het
Itgav A G 2: 83,606,886 (GRCm39) D409G probably damaging Het
Kcnt2 A G 1: 140,537,377 (GRCm39) N1119S probably benign Het
Kif15 T C 9: 122,816,905 (GRCm39) probably benign Het
Klhl32 T C 4: 24,682,063 (GRCm39) I207V probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lhfpl5 T C 17: 28,798,920 (GRCm39) I143T possibly damaging Het
Lrrk1 T C 7: 65,955,269 (GRCm39) K431E possibly damaging Het
Mag C T 7: 30,601,073 (GRCm39) probably null Het
Maml3 A T 3: 51,764,351 (GRCm39) N204K possibly damaging Het
Mmut A G 17: 41,269,763 (GRCm39) probably null Het
Mrpl19 T C 6: 81,941,047 (GRCm39) S115G probably damaging Het
Mthfd1l G C 10: 4,098,025 (GRCm39) G954A probably damaging Het
Myo19 A G 11: 84,783,001 (GRCm39) I172V probably benign Het
Naca T C 10: 127,876,530 (GRCm39) probably benign Het
Nbeal2 G A 9: 110,465,955 (GRCm39) probably benign Het
Nfatc2 T C 2: 168,348,914 (GRCm39) N638D possibly damaging Het
Or52r1c C A 7: 102,734,957 (GRCm39) D72E probably damaging Het
Or8b49 T A 9: 38,505,939 (GRCm39) C141S probably damaging Het
Or9s27 A G 1: 92,516,535 (GRCm39) N161S probably benign Het
Padi6 A G 4: 140,462,700 (GRCm39) L307P probably damaging Het
Pafah1b1 G A 11: 74,581,058 (GRCm39) S57F probably damaging Het
Prcd A G 11: 116,550,637 (GRCm39) E103G possibly damaging Het
Prkx A T X: 76,814,881 (GRCm39) F260I probably damaging Het
Rad54l2 A G 9: 106,631,142 (GRCm39) probably null Het
Rb1cc1 T A 1: 6,319,590 (GRCm39) M1003K probably benign Het
Scap A T 9: 110,203,093 (GRCm39) M256L probably benign Het
Sema4c C T 1: 36,588,960 (GRCm39) R722H possibly damaging Het
Septin4 T C 11: 87,458,070 (GRCm39) V148A possibly damaging Het
Sgk1 C T 10: 21,872,500 (GRCm39) R171W probably damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Spata7 A G 12: 98,603,857 (GRCm39) N75D possibly damaging Het
Tmem120b T A 5: 123,252,167 (GRCm39) I146N probably damaging Het
Ttc23l A G 15: 10,547,318 (GRCm39) F99L possibly damaging Het
Ube3a T A 7: 58,926,267 (GRCm39) C348* probably null Het
Ubr4 T A 4: 139,149,166 (GRCm39) D1777E probably benign Het
Unc79 C A 12: 103,079,476 (GRCm39) D1880E probably damaging Het
Usp36 C T 11: 118,167,585 (GRCm39) probably null Het
Zswim9 T C 7: 13,011,196 (GRCm39) T51A possibly damaging Het
Other mutations in Dtx3l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01814:Dtx3l APN 16 35,751,872 (GRCm39) missense probably benign 0.10
IGL02255:Dtx3l APN 16 35,753,706 (GRCm39) missense probably benign 0.10
R0560:Dtx3l UTSW 16 35,753,305 (GRCm39) missense probably damaging 1.00
R1123:Dtx3l UTSW 16 35,753,638 (GRCm39) missense probably damaging 1.00
R1127:Dtx3l UTSW 16 35,759,127 (GRCm39) missense possibly damaging 0.74
R1466:Dtx3l UTSW 16 35,753,098 (GRCm39) missense probably damaging 1.00
R1466:Dtx3l UTSW 16 35,753,098 (GRCm39) missense probably damaging 1.00
R1584:Dtx3l UTSW 16 35,753,098 (GRCm39) missense probably damaging 1.00
R1690:Dtx3l UTSW 16 35,753,638 (GRCm39) missense probably damaging 1.00
R1929:Dtx3l UTSW 16 35,754,059 (GRCm39) missense possibly damaging 0.95
R2014:Dtx3l UTSW 16 35,756,797 (GRCm39) missense probably benign 0.08
R2015:Dtx3l UTSW 16 35,756,797 (GRCm39) missense probably benign 0.08
R2255:Dtx3l UTSW 16 35,756,949 (GRCm39) missense probably benign 0.01
R3023:Dtx3l UTSW 16 35,752,806 (GRCm39) missense probably benign 0.01
R5224:Dtx3l UTSW 16 35,759,163 (GRCm39) missense possibly damaging 0.93
R5233:Dtx3l UTSW 16 35,753,608 (GRCm39) missense possibly damaging 0.49
R5375:Dtx3l UTSW 16 35,753,397 (GRCm39) missense probably damaging 1.00
R5884:Dtx3l UTSW 16 35,752,603 (GRCm39) missense probably benign
R6821:Dtx3l UTSW 16 35,753,430 (GRCm39) missense probably damaging 1.00
R6994:Dtx3l UTSW 16 35,751,742 (GRCm39) critical splice donor site probably null
R7242:Dtx3l UTSW 16 35,753,771 (GRCm39) missense possibly damaging 0.76
R7270:Dtx3l UTSW 16 35,754,027 (GRCm39) missense probably damaging 1.00
R7837:Dtx3l UTSW 16 35,751,896 (GRCm39) missense probably damaging 1.00
R7866:Dtx3l UTSW 16 35,759,120 (GRCm39) missense probably benign 0.00
R8053:Dtx3l UTSW 16 35,759,322 (GRCm39) unclassified probably benign
R8337:Dtx3l UTSW 16 35,754,073 (GRCm39) missense probably benign 0.00
R9764:Dtx3l UTSW 16 35,753,277 (GRCm39) missense probably damaging 1.00
Z1176:Dtx3l UTSW 16 35,753,553 (GRCm39) missense probably damaging 0.99
Z1176:Dtx3l UTSW 16 35,752,827 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2017-05-11