Incidental Mutation 'R4232:Dtx3'
ID 320918
Institutional Source Beutler Lab
Gene Symbol Dtx3
Ensembl Gene ENSMUSG00000040415
Gene Name deltex 3, E3 ubiquitin ligase
Synonyms
MMRRC Submission 041051-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.369) question?
Stock # R4232 (G1)
Quality Score 168
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: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 92% (58/63)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik C T X: 69,438,135 (GRCm39) A53T probably benign 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
Arhgap21 A G 2: 20,891,948 (GRCm39) V161A probably damaging Het
Atg14 T C 14: 47,788,802 (GRCm39) K184E probably benign Het
Aven A G 2: 112,458,113 (GRCm39) D167G probably damaging Het
Celsr2 A G 3: 108,321,088 (GRCm39) F575L probably benign Het
Cflar A T 1: 58,780,152 (GRCm39) Q249L possibly damaging Het
Col7a1 G A 9: 108,801,881 (GRCm39) probably null Het
Dmxl2 T C 9: 54,327,193 (GRCm39) D944G possibly damaging Het
Dnah1 T C 14: 31,026,873 (GRCm39) N717S probably benign Het
Dnaja3 T A 16: 4,517,735 (GRCm39) N322K possibly damaging Het
Dnajb3 A G 1: 88,132,974 (GRCm39) S143P possibly damaging Het
Dvl3 A G 16: 20,342,983 (GRCm39) probably benign Het
Fkbp7 A T 2: 76,493,661 (GRCm39) D177E possibly damaging Het
Galnt7 T C 8: 58,106,000 (GRCm39) I5V probably benign Het
Garin3 C A 11: 46,298,232 (GRCm39) T512K possibly damaging Het
Helz2 A T 2: 180,871,695 (GRCm39) L2639Q probably damaging Het
Hnrnpr T C 4: 136,066,500 (GRCm39) M394T probably benign Het
Ip6k2 G A 9: 108,682,847 (GRCm39) R319Q probably benign Het
Kif14 T A 1: 136,444,101 (GRCm39) C1364* probably null Het
Macf1 T C 4: 123,326,185 (GRCm39) E5104G probably damaging Het
Mrps30 T C 13: 118,523,376 (GRCm39) D132G probably damaging Het
Mrtfa T A 15: 80,907,796 (GRCm39) K29M probably damaging Het
Mtbp CATGA CATGAATGA 15: 55,484,073 (GRCm39) probably null Het
Nfkb1 A G 3: 135,309,531 (GRCm39) V521A probably damaging Het
Or2b7 T C 13: 21,739,631 (GRCm39) D187G probably damaging Het
Or7g32 G T 9: 19,389,022 (GRCm39) L175M probably damaging Het
P2rx6 T C 16: 17,388,631 (GRCm39) L335P probably damaging Het
Pcdhga5 A G 18: 37,829,001 (GRCm39) D483G possibly damaging Het
Pgpep1l T C 7: 67,886,827 (GRCm39) T161A probably benign Het
Prss40 A G 1: 34,599,873 (GRCm39) V38A probably benign Het
Ptk2 C A 15: 73,181,698 (GRCm39) R104L possibly damaging Het
Ralgapa1 C T 12: 55,687,429 (GRCm39) R2019Q probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rtp4 A G 16: 23,431,833 (GRCm39) N122D possibly damaging Het
Samd8 A G 14: 21,830,213 (GRCm39) Y213C probably benign Het
Shcbp1 T A 8: 4,786,372 (GRCm39) T577S probably benign Het
Tiprl A G 1: 165,050,156 (GRCm39) V153A probably damaging Het
Tmprss7 A T 16: 45,476,936 (GRCm39) D775E probably damaging Het
Tnr T C 1: 159,713,785 (GRCm39) S738P possibly damaging Het
Tsc22d4 T C 5: 137,749,632 (GRCm39) probably null Het
Ttc21a A T 9: 119,771,684 (GRCm39) H161L probably benign Het
Ubqln3 T A 7: 103,791,010 (GRCm39) E360V probably benign Het
Ugt1a10 C A 1: 87,983,932 (GRCm39) D243E probably benign Het
Vmn2r19 G A 6: 123,306,871 (GRCm39) V460I probably benign Het
Vmn2r58 T A 7: 41,487,011 (GRCm39) Y628F possibly damaging Het
Wnk1 A T 6: 119,926,222 (GRCm39) S1588T possibly damaging Het
Wscd2 A G 5: 113,699,045 (GRCm39) D200G probably benign Het
Zfp831 G C 2: 174,547,447 (GRCm39) W1543C possibly damaging 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
R4236: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