Incidental Mutation 'R5224:Dtx3l'
ID 402521
Institutional Source Beutler Lab
Gene Symbol Dtx3l
Ensembl Gene ENSMUSG00000049502
Gene Name deltex 3-like, E3 ubiquitin ligase
Synonyms
MMRRC Submission 042797-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.388) question?
Stock # R5224 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 35746885-35759397 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35759163 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 29 (Y29H)
Ref Sequence ENSEMBL: ENSMUSP00000110535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023622] [ENSMUST00000081933] [ENSMUST00000114877] [ENSMUST00000114878] [ENSMUST00000114885] [ENSMUST00000122870]
AlphaFold Q3UIR3
Predicted Effect probably benign
Transcript: ENSMUST00000023622
SMART Domains Protein: ENSMUSP00000023622
Gene: ENSMUSG00000022906

DomainStartEndE-ValueType
Pfam:Macro 74 182 1.5e-16 PFAM
PDB:3HKV|B 386 559 3e-9 PDB
SCOP:d1a26_2 403 521 1e-20 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000081933
AA Change: Y29H

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000080601
Gene: ENSMUSG00000049502
AA Change: Y29H

DomainStartEndE-ValueType
low complexity region 54 69 N/A INTRINSIC
RING 569 607 5.82e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000114877
SMART Domains Protein: ENSMUSP00000110527
Gene: ENSMUSG00000022906

DomainStartEndE-ValueType
A1pp 121 257 6.75e-33 SMART
A1pp 325 451 9.37e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114878
SMART Domains Protein: ENSMUSP00000110528
Gene: ENSMUSG00000022906

DomainStartEndE-ValueType
A1pp 85 221 6.75e-33 SMART
A1pp 289 415 9.37e-9 SMART
PDB:3HKV|B 619 792 4e-8 PDB
SCOP:d1a26_2 636 754 1e-20 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000114885
AA Change: Y29H

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110535
Gene: ENSMUSG00000049502
AA Change: Y29H

DomainStartEndE-ValueType
low complexity region 54 69 N/A INTRINSIC
RING 569 607 5.82e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122870
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153066
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128878
Meta Mutation Damage Score 0.1755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 98% (58/59)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb3 CGTGACCTTTCTGGT CGT 10: 85,481,386 (GRCm39) probably benign Het
Ahi1 A G 10: 20,862,921 (GRCm39) S699G probably damaging Het
Atp10d C T 5: 72,426,669 (GRCm39) A959V probably benign Het
Axl T C 7: 25,486,369 (GRCm39) M112V probably benign Het
Brd10 A T 19: 29,696,450 (GRCm39) S1014R possibly damaging Het
Camk1g A T 1: 193,037,342 (GRCm39) D119E probably damaging Het
Capn8 A C 1: 182,424,554 (GRCm39) N117T probably damaging Het
Cct3 G A 3: 88,204,532 (GRCm39) probably benign Het
Csmd3 T C 15: 47,752,080 (GRCm39) T1293A possibly damaging Het
Depdc1b A G 13: 108,521,354 (GRCm39) D387G probably damaging Het
Erp44 A T 4: 48,279,435 (GRCm39) N2K probably benign Het
Fmn1 A G 2: 113,195,470 (GRCm39) E390G unknown Het
Ganab T A 19: 8,887,955 (GRCm39) D396E probably benign Het
Gatd3a A G 10: 77,999,367 (GRCm39) V148A probably damaging Het
Gcc2 T A 10: 58,121,982 (GRCm39) S1140T probably damaging Het
Gm7008 T C 12: 40,273,342 (GRCm39) probably benign Het
Gphn T A 12: 78,637,361 (GRCm39) F354I probably damaging Het
H2-T7 G A 17: 36,454,231 (GRCm39) noncoding transcript Het
Hnrnpul1 G A 7: 25,444,600 (GRCm39) T236M probably damaging Het
Itpr2 T A 6: 146,068,149 (GRCm39) M2410L probably benign Het
Jaml T A 9: 45,015,564 (GRCm39) M356K probably damaging Het
Kbtbd12 T A 6: 88,594,681 (GRCm39) probably benign Het
Ldlrad3 G T 2: 101,943,954 (GRCm39) N39K probably damaging Het
Lrp1b G A 2: 41,000,852 (GRCm39) T2238I possibly damaging Het
Lypd8 T A 11: 58,277,634 (GRCm39) C139S possibly damaging Het
Masp1 G T 16: 23,313,445 (GRCm39) H163Q probably damaging Het
Mpo T C 11: 87,687,283 (GRCm39) probably benign Het
Muc19 A T 15: 91,825,910 (GRCm39) noncoding transcript Het
Muc5ac T A 7: 141,347,708 (GRCm39) S438T probably benign Het
Nav2 T C 7: 49,201,473 (GRCm39) V160A probably benign Het
Nlrc5 G T 8: 95,220,944 (GRCm39) A1128S probably benign Het
Nlrp5 T A 7: 23,117,401 (GRCm39) L375Q probably damaging Het
Nlrp9a A G 7: 26,256,717 (GRCm39) T112A probably benign Het
Nppa T C 4: 148,085,773 (GRCm39) S127P probably damaging Het
Or8k24 A G 2: 86,216,193 (GRCm39) S190P possibly damaging Het
Osbpl1a T C 18: 13,066,753 (GRCm39) N2S probably benign Het
Otoa A G 7: 120,739,016 (GRCm39) T742A probably damaging Het
Pcdh10 A G 3: 45,347,249 (GRCm39) R1015G probably damaging Het
Pdzrn3 C T 6: 101,130,272 (GRCm39) D515N probably damaging Het
Plpp1 T A 13: 112,988,046 (GRCm39) Y56* probably null Het
Ppp1r12a A G 10: 108,096,886 (GRCm39) T236A probably benign Het
Rhag T C 17: 41,139,395 (GRCm39) L110P probably damaging Het
Scn11a T A 9: 119,583,858 (GRCm39) N1586Y probably damaging Het
Sgms2 T A 3: 131,135,766 (GRCm39) K36I probably damaging Het
Slc22a2 A G 17: 12,805,719 (GRCm39) N157D probably damaging Het
Stx19 T G 16: 62,642,937 (GRCm39) M251R probably benign Het
Suco A G 1: 161,662,274 (GRCm39) I719T probably benign Het
Tnr A G 1: 159,750,885 (GRCm39) D1282G probably damaging Het
Tram1 T C 1: 13,648,349 (GRCm39) R154G probably benign Het
Ubtfl1 G T 9: 18,321,326 (GRCm39) V285L probably benign Het
Ugt2b38 A G 5: 87,571,601 (GRCm39) S144P probably benign Het
Washc2 T G 6: 116,185,965 (GRCm39) *58G probably null Het
Zfp354a T A 11: 50,960,876 (GRCm39) S362R 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
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 PCR Primer
(F):5'- ATGCAGGGATCGGTTTGGAAAC -3'
(R):5'- ATGGCTCTGAGAGATGGCAG -3'

Sequencing Primer
(F):5'- ACCTGCTGGTTCTACCCTTG -3'
(R):5'- GAAACTGAAACTTTGCCTCTCGGG -3'
Posted On 2016-07-22