Incidental Mutation 'R4236:Dtx3'
ID 321132
Institutional Source Beutler Lab
Gene Symbol Dtx3
Ensembl Gene ENSMUSG00000040415
Gene Name deltex 3, E3 ubiquitin ligase
Synonyms
MMRRC Submission 041053-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.369) question?
Stock # R4236 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 127026247-127031597 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127029058 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 60 (I60T)
Ref Sequence ENSEMBL: ENSMUSP00000116510 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013970] [ENSMUST00000019611] [ENSMUST00000038217] [ENSMUST00000116229] [ENSMUST00000130855] [ENSMUST00000144322] [ENSMUST00000137151] [ENSMUST00000222006] [ENSMUST00000219245] [ENSMUST00000218654] [ENSMUST00000218587] [ENSMUST00000167353]
AlphaFold Q80V91
Predicted Effect probably benign
Transcript: ENSMUST00000013970
SMART Domains Protein: ENSMUSP00000013970
Gene: ENSMUSG00000025417

DomainStartEndE-ValueType
low complexity region 7 25 N/A INTRINSIC
low complexity region 27 41 N/A INTRINSIC
PIPKc 72 420 2.3e-172 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000019611
SMART Domains Protein: ENSMUSP00000019611
Gene: ENSMUSG00000019467

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
low complexity region 81 103 N/A INTRINSIC
low complexity region 146 171 N/A INTRINSIC
RhoGEF 203 374 2.45e-49 SMART
PH 394 507 6.67e-1 SMART
low complexity region 561 569 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000038217
AA Change: I57T

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000044627
Gene: ENSMUSG00000040415
AA Change: I57T

DomainStartEndE-ValueType
low complexity region 64 72 N/A INTRINSIC
coiled coil region 73 104 N/A INTRINSIC
low complexity region 119 154 N/A INTRINSIC
RING 164 202 1.04e-7 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000116229
AA Change: I57T

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000111937
Gene: ENSMUSG00000040415
AA Change: I57T

DomainStartEndE-ValueType
low complexity region 64 72 N/A INTRINSIC
coiled coil region 73 104 N/A INTRINSIC
low complexity region 119 154 N/A INTRINSIC
RING 164 202 1.04e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125254
Predicted Effect possibly damaging
Transcript: ENSMUST00000130855
AA Change: I60T

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000114776
Gene: ENSMUSG00000040415
AA Change: I60T

DomainStartEndE-ValueType
low complexity region 67 75 N/A INTRINSIC
coiled coil region 76 107 N/A INTRINSIC
low complexity region 122 157 N/A INTRINSIC
RING 167 205 1.04e-7 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000144322
AA Change: I60T

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000116510
Gene: ENSMUSG00000040415
AA Change: I60T

DomainStartEndE-ValueType
low complexity region 67 75 N/A INTRINSIC
coiled coil region 76 107 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181578
Predicted Effect probably benign
Transcript: ENSMUST00000137151
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219649
Predicted Effect probably benign
Transcript: ENSMUST00000222006
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219079
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218478
Predicted Effect probably benign
Transcript: ENSMUST00000219245
Predicted Effect probably benign
Transcript: ENSMUST00000218654
Predicted Effect probably benign
Transcript: ENSMUST00000218587
Predicted Effect probably benign
Transcript: ENSMUST00000167353
SMART Domains Protein: ENSMUSP00000126339
Gene: ENSMUSG00000019467

DomainStartEndE-ValueType
low complexity region 72 94 N/A INTRINSIC
low complexity region 137 162 N/A INTRINSIC
RhoGEF 194 365 2.45e-49 SMART
PH 385 498 6.67e-1 SMART
low complexity region 552 560 N/A INTRINSIC
Meta Mutation Damage Score 0.0897 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 96% (49/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DTX3 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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik C T X: 69,438,135 (GRCm39) A53T probably benign Het
Abca13 A T 11: 9,206,205 (GRCm39) K168N probably damaging Het
Ajuba T C 14: 54,806,983 (GRCm39) R490G probably damaging Het
Akap6 T A 12: 53,186,454 (GRCm39) N1289K probably damaging Het
Ankfy1 G A 11: 72,605,310 (GRCm39) probably null Het
Arhgap21 A G 2: 20,891,948 (GRCm39) V161A probably damaging Het
Arhgef18 T C 8: 3,500,317 (GRCm39) I541T possibly damaging Het
Atg14 T C 14: 47,788,802 (GRCm39) K184E probably benign Het
Casp8 T C 1: 58,883,929 (GRCm39) V432A probably damaging Het
Cela1 T C 15: 100,580,794 (GRCm39) Y91C probably damaging Het
Chrnb3 C A 8: 27,884,021 (GRCm39) L253M probably damaging Het
Col24a1 G T 3: 145,230,037 (GRCm39) G1493* probably null Het
Dnah7a C T 1: 53,486,524 (GRCm39) E3346K probably benign Het
Dock5 A T 14: 67,993,941 (GRCm39) S1845T probably benign Het
Eif1ad8 A T 12: 87,563,935 (GRCm39) D90V probably damaging Het
F2rl1 A G 13: 95,649,796 (GRCm39) L362P probably damaging Het
Gal3st2c T C 1: 93,936,463 (GRCm39) F136S probably damaging Het
Gm26678 T C 3: 54,540,504 (GRCm39) noncoding transcript Het
Impg1 A G 9: 80,252,611 (GRCm39) L523P probably damaging Het
Ip6k2 G A 9: 108,682,847 (GRCm39) R319Q probably benign Het
Klhl23 T C 2: 69,654,516 (GRCm39) F129L probably damaging Het
Krt71 T C 15: 101,643,129 (GRCm39) T460A probably benign Het
Madd C T 2: 90,997,373 (GRCm39) R746Q probably benign Het
Med12l T G 3: 59,164,644 (GRCm39) probably null Het
Mrps30 T C 13: 118,523,376 (GRCm39) D132G probably damaging Het
Myh6 T G 14: 55,197,819 (GRCm39) M440L probably benign Het
Myh7 T A 14: 55,228,575 (GRCm39) S205C probably benign Het
Nxpe4 A T 9: 48,310,137 (GRCm39) T467S probably damaging Het
Or13a20 T C 7: 140,232,653 (GRCm39) Y254H probably damaging Het
Or1e17 A G 11: 73,831,182 (GRCm39) T37A possibly damaging Het
Or7g30 T A 9: 19,352,886 (GRCm39) L226I probably damaging Het
Pcdh7 G A 5: 57,876,631 (GRCm39) G62D possibly damaging Het
Pde3b A G 7: 114,120,923 (GRCm39) T683A possibly damaging Het
Plcb2 A T 2: 118,540,047 (GRCm39) L1082Q probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Skint11 C A 4: 114,101,856 (GRCm39) Q99K probably benign Het
Slc6a6 T C 6: 91,718,257 (GRCm39) V357A probably damaging Het
Slitrk6 T C 14: 110,987,580 (GRCm39) E709G probably benign Het
Spc24 T C 9: 21,667,498 (GRCm39) probably null Het
Tas2r140 A T 6: 133,031,915 (GRCm39) V281D probably damaging Het
Tfcp2l1 G A 1: 118,589,795 (GRCm39) R285H probably benign Het
Tmem132d A G 5: 128,509,389 (GRCm39) S14P possibly damaging Het
Tulp2 A G 7: 45,171,298 (GRCm39) K360E probably damaging Het
Vmn1r60 A G 7: 5,547,803 (GRCm39) V99A probably benign Het
Zfp599 T A 9: 22,161,041 (GRCm39) K375* probably null Het
Other mutations in Dtx3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02131:Dtx3 APN 10 127,029,148 (GRCm39) missense probably damaging 0.99
IGL02314:Dtx3 APN 10 127,026,828 (GRCm39) unclassified probably benign
R0257:Dtx3 UTSW 10 127,028,761 (GRCm39) missense probably benign
R1108:Dtx3 UTSW 10 127,027,158 (GRCm39) missense possibly damaging 0.84
R1422:Dtx3 UTSW 10 127,027,158 (GRCm39) missense possibly damaging 0.84
R3693:Dtx3 UTSW 10 127,027,293 (GRCm39) missense probably benign 0.33
R4016:Dtx3 UTSW 10 127,027,040 (GRCm39) missense probably benign 0.00
R4231:Dtx3 UTSW 10 127,029,058 (GRCm39) missense possibly damaging 0.92
R4232:Dtx3 UTSW 10 127,029,058 (GRCm39) missense possibly damaging 0.92
R4590:Dtx3 UTSW 10 127,028,564 (GRCm39) missense probably damaging 0.99
R4838:Dtx3 UTSW 10 127,027,176 (GRCm39) splice site probably null
R5338:Dtx3 UTSW 10 127,028,919 (GRCm39) missense probably benign 0.23
R5510:Dtx3 UTSW 10 127,028,807 (GRCm39) missense probably benign 0.08
R6989:Dtx3 UTSW 10 127,028,746 (GRCm39) missense probably benign 0.01
R7225:Dtx3 UTSW 10 127,027,358 (GRCm39) missense probably damaging 0.99
R8137:Dtx3 UTSW 10 127,029,041 (GRCm39) missense possibly damaging 0.85
R8293:Dtx3 UTSW 10 127,026,882 (GRCm39) missense probably damaging 1.00
R8411:Dtx3 UTSW 10 127,028,693 (GRCm39) missense possibly damaging 0.55
R9080:Dtx3 UTSW 10 127,027,137 (GRCm39) missense possibly damaging 0.68
R9663:Dtx3 UTSW 10 127,028,518 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AAATGGGGCAGGTGGTTTCC -3'
(R):5'- TTATCTGTCAAATGGGGACTCC -3'

Sequencing Primer
(F):5'- TCCTCTCTGAGACGAGGAGG -3'
(R):5'- GAGTCCCTTTCACCCTGGG -3'
Posted On 2015-06-12