Incidental Mutation 'R5233:Dtx3l'
ID 398169
Institutional Source Beutler Lab
Gene Symbol Dtx3l
Ensembl Gene ENSMUSG00000049502
Gene Name deltex 3-like, E3 ubiquitin ligase
Synonyms
MMRRC Submission 042805-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.388) question?
Stock # R5233 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 35746885-35759397 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 35753608 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 333 (C333S)
Ref Sequence ENSEMBL: ENSMUSP00000110535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081933] [ENSMUST00000114885]
AlphaFold Q3UIR3
Predicted Effect possibly damaging
Transcript: ENSMUST00000081933
AA Change: C333S

PolyPhen 2 Score 0.492 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000080601
Gene: ENSMUSG00000049502
AA Change: C333S

DomainStartEndE-ValueType
low complexity region 54 69 N/A INTRINSIC
RING 569 607 5.82e-6 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000114885
AA Change: C333S

PolyPhen 2 Score 0.492 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000110535
Gene: ENSMUSG00000049502
AA Change: C333S

DomainStartEndE-ValueType
low complexity region 54 69 N/A INTRINSIC
RING 569 607 5.82e-6 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.9%
Validation Efficiency 100% (56/56)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030619P08Rik T A 15: 75,301,801 (GRCm39) noncoding transcript Het
Aadat A G 8: 60,979,656 (GRCm39) I173V probably benign Het
Acsl6 G A 11: 54,216,432 (GRCm39) V200I possibly damaging Het
Alms1 T A 6: 85,633,353 (GRCm39) probably null Het
Arhgef17 A T 7: 100,530,576 (GRCm39) D1403E possibly damaging Het
Atp10b A G 11: 43,121,387 (GRCm39) T1017A probably benign Het
Capg C T 6: 72,532,509 (GRCm39) R25C probably damaging Het
Cd22 A G 7: 30,576,959 (GRCm39) I116T probably damaging Het
Cep135 AGTCTGCCTTTGG A 5: 76,739,690 (GRCm39) probably benign Het
Ciita A T 16: 10,327,265 (GRCm39) I277F possibly damaging Het
Col15a1 T C 4: 47,296,112 (GRCm39) V943A possibly damaging Het
Coq2 G A 5: 100,805,698 (GRCm39) H313Y possibly damaging Het
Csn3 C T 5: 88,077,694 (GRCm39) P67S probably benign Het
Csrnp3 A G 2: 65,852,684 (GRCm39) T359A possibly damaging Het
Cttnbp2nl A G 3: 104,912,357 (GRCm39) L509P probably damaging Het
Dclk3 A G 9: 111,297,749 (GRCm39) D431G probably benign Het
Ear-ps2 G A 14: 44,284,517 (GRCm39) noncoding transcript Het
Fam171a1 G C 2: 3,179,390 (GRCm39) G72A probably damaging Het
Fbxw17 T C 13: 50,586,390 (GRCm39) probably benign Het
Fry A G 5: 150,393,185 (GRCm39) D605G possibly damaging Het
Fyn T C 10: 39,405,936 (GRCm39) F240S probably benign Het
Gcfc2 T C 6: 81,930,271 (GRCm39) L646P probably damaging Het
Gm5087 C T 14: 13,158,788 (GRCm38) noncoding transcript Het
Got2 T A 8: 96,602,477 (GRCm39) N91I probably benign Het
Hspa4 C T 11: 53,177,802 (GRCm39) V103I possibly damaging Het
Itgad A G 7: 127,792,600 (GRCm39) probably null Het
Krt33a A G 11: 99,904,961 (GRCm39) S182P probably damaging Het
Mcph1 T C 8: 18,721,254 (GRCm39) I694T probably damaging Het
Mmp15 T C 8: 96,097,696 (GRCm39) V502A probably benign Het
Mov10l1 T C 15: 88,867,235 (GRCm39) V23A probably benign Het
Myo9a T A 9: 59,817,900 (GRCm39) N2322K probably damaging Het
Ndst4 A G 3: 125,503,766 (GRCm39) Y11C probably damaging Het
Nell1 T C 7: 49,826,062 (GRCm39) F199S probably damaging Het
Nup210 C T 6: 91,003,951 (GRCm39) V646M probably damaging Het
Nup98 A T 7: 101,845,029 (GRCm39) S13R unknown Het
Nxf1 T C 19: 8,741,293 (GRCm39) I54T possibly damaging Het
Or8b38 A G 9: 37,973,446 (GRCm39) T277A probably damaging Het
Pcdh10 C A 3: 45,338,626 (GRCm39) R928S probably damaging Het
Pou3f3 A G 1: 42,737,438 (GRCm39) N378S probably benign Het
Rfx6 T A 10: 51,588,187 (GRCm39) Y109* probably null Het
Rorc T A 3: 94,304,632 (GRCm39) V339D probably benign Het
Scin T A 12: 40,127,558 (GRCm39) I411F probably benign Het
Serpind1 A G 16: 17,154,758 (GRCm39) Y195C probably damaging Het
Tas2r117 T C 6: 132,780,585 (GRCm39) V241A possibly damaging Het
Tet3 T A 6: 83,363,045 (GRCm39) E709V probably damaging Het
Trbc1 T A 6: 41,515,383 (GRCm39) probably benign Het
Vmn1r212 C A 13: 23,067,304 (GRCm39) G343V unknown Het
Vmn2r42 T A 7: 8,197,837 (GRCm39) K261* probably null Het
Xrcc5 T A 1: 72,379,209 (GRCm39) L438Q probably damaging Het
Zfp142 T C 1: 74,624,608 (GRCm39) N72S probably damaging Het
Zfp292 A T 4: 34,809,755 (GRCm39) S1096R 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
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 PCR Primer
(F):5'- AGCGTGTTGAATCGACCTCG -3'
(R):5'- ATCCGGGTAGACTAGAGTTCATAGAG -3'

Sequencing Primer
(F):5'- TCGATGCCCGTCGTGTAC -3'
(R):5'- ATCCAAGCTAGTTCTCCCAATATGG -3'
Posted On 2016-07-06