Incidental Mutation 'R6994:Dtx3l'
ID 544081
Institutional Source Beutler Lab
Gene Symbol Dtx3l
Ensembl Gene ENSMUSG00000049502
Gene Name deltex 3-like, E3 ubiquitin ligase
Synonyms
MMRRC Submission 045100-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.388) question?
Stock # R6994 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 35746885-35759397 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 35751742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000080601 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081933] [ENSMUST00000114885]
AlphaFold Q3UIR3
Predicted Effect probably null
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
SMART Domains Protein: ENSMUSP00000110535
Gene: ENSMUSG00000049502

DomainStartEndE-ValueType
low complexity region 54 69 N/A INTRINSIC
RING 569 607 5.82e-6 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 96% (82/85)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 T G 4: 144,349,849 (GRCm39) W369G probably damaging Het
Abhd16b C T 2: 181,135,461 (GRCm39) T121M possibly damaging Het
Adam5 A T 8: 25,276,262 (GRCm39) C468* probably null Het
Aim2 C T 1: 173,283,152 (GRCm39) A78V possibly damaging Het
Alg9 G A 9: 50,703,422 (GRCm39) W254* probably null Het
Ankrd55 G C 13: 112,504,834 (GRCm39) E499Q probably benign Het
Atp6v0a2 T C 5: 124,791,209 (GRCm39) F546S probably damaging Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Bpi A T 2: 158,100,164 (GRCm39) probably benign Het
Bves A G 10: 45,215,514 (GRCm39) H63R probably benign Het
Ccdc183 T C 2: 25,507,057 (GRCm39) M45V probably benign Het
Cfhr4 T A 1: 139,664,668 (GRCm39) I464L possibly damaging Het
Cmklr1 T C 5: 113,752,983 (GRCm39) Y6C probably damaging Het
Colgalt1 C T 8: 72,076,165 (GRCm39) R539C probably damaging Het
Ctsm T A 13: 61,687,698 (GRCm39) E53D probably damaging Het
Cyp2a22 A G 7: 26,638,606 (GRCm39) probably null Het
Ddx10 A G 9: 53,115,411 (GRCm39) V641A probably damaging Het
Ddx6 T C 9: 44,540,020 (GRCm39) V316A probably damaging Het
Dhx34 T C 7: 15,937,799 (GRCm39) D767G probably benign Het
Dnaaf6rt T C 1: 31,261,990 (GRCm39) probably benign Het
Dtnbp1 T A 13: 45,155,405 (GRCm39) D15V probably damaging Het
Entpd8 T C 2: 24,973,321 (GRCm39) I162T probably damaging Het
Fam186a G T 15: 99,840,347 (GRCm39) Q1966K probably benign Het
Fbxo27 A C 7: 28,392,785 (GRCm39) D22A probably damaging Het
Fermt3 A T 19: 6,977,095 (GRCm39) I577N probably damaging Het
Frmd8 A T 19: 5,923,209 (GRCm39) S81T probably damaging Het
Gm5108 T A 5: 68,102,012 (GRCm39) probably benign Het
Gm9195 T C 14: 72,718,271 (GRCm39) Y135C probably damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Kcnh8 A T 17: 53,284,723 (GRCm39) I898F probably benign Het
Kri1 C T 9: 21,199,083 (GRCm39) probably benign Het
Krt32 T A 11: 99,977,271 (GRCm39) I210F probably damaging Het
Lama1 G A 17: 68,060,820 (GRCm39) C716Y Het
Lamc2 G A 1: 153,012,508 (GRCm39) T722M probably benign Het
Lpin3 C T 2: 160,746,803 (GRCm39) P766L probably damaging Het
Macroh2a1 T C 13: 56,237,643 (GRCm39) N206D probably benign Het
Marf1 T C 16: 13,946,721 (GRCm39) T1169A probably damaging Het
Morc1 G A 16: 48,385,984 (GRCm39) V536M probably benign Het
Morc1 A T 16: 48,438,909 (GRCm39) H768L probably benign Het
Mpped2 T A 2: 106,529,878 (GRCm39) H42Q possibly damaging Het
Nfatc1 G T 18: 80,696,779 (GRCm39) probably null Het
Nfkbid G A 7: 30,125,192 (GRCm39) S263N probably benign Het
Npas3 C A 12: 54,115,576 (GRCm39) Q802K probably damaging Het
Or52s1b T C 7: 102,822,119 (GRCm39) T242A probably damaging Het
Or5ac20 T G 16: 59,104,453 (GRCm39) M136L possibly damaging Het
Or5p67 T A 7: 107,922,101 (GRCm39) I261F possibly damaging Het
Pabpc4l C A 3: 46,401,345 (GRCm39) V100L possibly damaging Het
Pagr1a A G 7: 126,615,613 (GRCm39) probably null Het
Pcdh1 A T 18: 38,331,553 (GRCm39) N483K probably damaging Het
Pikfyve C A 1: 65,291,689 (GRCm39) P1303T probably damaging Het
Plekhh3 T A 11: 101,056,519 (GRCm39) probably null Het
Pnkd T A 1: 74,332,335 (GRCm39) probably null Het
Pparg A T 6: 115,428,011 (GRCm39) Q166L probably benign Het
Psenen A G 7: 30,262,932 (GRCm39) probably null Het
Rab4a T C 8: 124,557,105 (GRCm39) S142P probably damaging Het
Reg3a T C 6: 78,358,132 (GRCm39) V21A probably benign Het
Relt A C 7: 100,502,321 (GRCm39) probably benign Het
Rftn1 T A 17: 50,344,019 (GRCm39) T90S possibly damaging Het
Ripor3 T G 2: 167,839,186 (GRCm39) D105A probably damaging Het
Rnase10 T A 14: 51,247,138 (GRCm39) I135N probably damaging Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Rttn A G 18: 89,047,023 (GRCm39) E895G probably damaging Het
Serpina3a G A 12: 104,079,089 (GRCm39) probably null Het
Slco5a1 C T 1: 12,951,617 (GRCm39) C562Y probably damaging Het
Spen T C 4: 141,220,770 (GRCm39) T396A unknown Het
Tgfbr3 A G 5: 107,280,892 (GRCm39) S623P probably damaging Het
Tmem8b A G 4: 43,690,192 (GRCm39) I876V probably damaging Het
Tmod3 T C 9: 75,416,669 (GRCm39) K221R probably damaging Het
Tomm40 G T 7: 19,436,831 (GRCm39) D40E probably damaging Het
Trav6d-4 G T 14: 52,991,048 (GRCm39) G28V probably damaging Het
Trav8d-2 G T 14: 53,279,933 (GRCm39) A17S probably benign Het
Triml2 T C 8: 43,643,115 (GRCm39) C158R possibly damaging Het
Trip10 A G 17: 57,562,331 (GRCm39) E283G probably damaging Het
Tubb2b T C 13: 34,311,518 (GRCm39) Y425C probably damaging Het
Ubr1 T C 2: 120,794,074 (GRCm39) T37A probably benign Het
Unc13b A G 4: 43,171,403 (GRCm39) probably benign Het
Unc13b A G 4: 43,173,203 (GRCm39) probably benign Het
Vcan A T 13: 89,841,526 (GRCm39) D379E possibly damaging Het
Vmn1r44 T A 6: 89,871,140 (GRCm39) H295Q probably benign Het
Vmn2r16 A T 5: 109,487,969 (GRCm39) S281C probably damaging Het
Vmn2r84 C T 10: 130,226,876 (GRCm39) A321T possibly damaging Het
Vsig10l A T 7: 43,114,491 (GRCm39) H271L possibly damaging Het
Vwa8 A T 14: 79,145,596 (GRCm39) H91L possibly damaging Het
Zfp957 T A 14: 79,451,130 (GRCm39) E223V probably 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
R3176:Dtx3l UTSW 16 35,752,543 (GRCm39) missense probably benign 0.29
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
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 PCR Primer
(F):5'- GCCTGTGACTCAGAATATGTAAGG -3'
(R):5'- CCCAGGAAAGGCTTATCATGGAAC -3'

Sequencing Primer
(F):5'- GTAAGGCAAATAAACCCATCATCCTG -3'
(R):5'- TGGAACACGGCGAACTGC -3'
Posted On 2019-05-13