Incidental Mutation 'R0375:Dtx1'
ID 30684
Institutional Source Beutler Lab
Gene Symbol Dtx1
Ensembl Gene ENSMUSG00000029603
Gene Name deltex 1, E3 ubiquitin ligase
Synonyms Fxit1
MMRRC Submission 038581-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0375 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 120818267-120849992 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120819464 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 578 (E578G)
Ref Sequence ENSEMBL: ENSMUSP00000031607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031606] [ENSMUST00000031607] [ENSMUST00000156722]
AlphaFold Q61010
Predicted Effect probably benign
Transcript: ENSMUST00000031606
SMART Domains Protein: ENSMUSP00000031606
Gene: ENSMUSG00000029602

DomainStartEndE-ValueType
C2 6 113 7.74e-13 SMART
C2 134 231 2e-15 SMART
RasGAP 241 604 3.96e-166 SMART
PH 566 674 2.76e-16 SMART
BTK 674 710 2.24e-4 SMART
low complexity region 731 745 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000031607
AA Change: E578G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031607
Gene: ENSMUSG00000029603
AA Change: E578G

DomainStartEndE-ValueType
WWE 23 102 1.29e-38 SMART
WWE 104 179 3.88e-33 SMART
low complexity region 226 251 N/A INTRINSIC
low complexity region 258 290 N/A INTRINSIC
low complexity region 367 384 N/A INTRINSIC
low complexity region 387 397 N/A INTRINSIC
RING 418 478 5.82e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144889
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145174
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151562
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154759
Predicted Effect probably benign
Transcript: ENSMUST00000156722
SMART Domains Protein: ENSMUSP00000123266
Gene: ENSMUSG00000029602

DomainStartEndE-ValueType
C2 6 113 7.74e-13 SMART
C2 134 231 2e-15 SMART
RasGAP 241 604 3.96e-166 SMART
PH 566 674 2.76e-16 SMART
BTK 674 710 2.24e-4 SMART
low complexity region 731 745 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201264
Meta Mutation Damage Score 0.3955 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.7%
Validation Efficiency 100% (61/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Studies in Drosophila have identified this gene as encoding a positive regulator of the Notch-signaling pathway. The human gene encodes a protein of unknown function; however, it may play a role in basic helix-loop-helix transcription factor activity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice are viable and fertile with normal B and T cell devlepment and function and no gross abnormalities in any of the major organs. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730522E02Rik T A 11: 25,719,092 (GRCm39) Y17F unknown Het
Aars2 A G 17: 45,825,476 (GRCm39) D313G probably damaging Het
Abca9 A T 11: 110,006,273 (GRCm39) D1277E probably benign Het
Adgrl1 G T 8: 84,661,530 (GRCm39) A981S probably damaging Het
Aff3 T G 1: 38,244,021 (GRCm39) K917Q possibly damaging Het
BC049715 A T 6: 136,816,994 (GRCm39) H78L probably benign Het
Bltp1 C T 3: 37,100,401 (GRCm39) T4707I probably damaging Het
Cacna1g C A 11: 94,301,880 (GRCm39) A2027S possibly damaging Het
Camk1g G A 1: 193,038,709 (GRCm39) probably benign Het
Carf T C 1: 60,183,161 (GRCm39) V386A probably damaging Het
Cd46 A G 1: 194,768,472 (GRCm39) S82P probably benign Het
Clic5 A G 17: 44,581,510 (GRCm39) E180G possibly damaging Het
Col27a1 A G 4: 63,143,898 (GRCm39) T529A probably benign Het
Col7a1 C T 9: 108,809,305 (GRCm39) R2627C unknown Het
Cuzd1 G A 7: 130,913,637 (GRCm39) probably benign Het
Cwc27 T C 13: 104,944,331 (GRCm39) D50G possibly damaging Het
Dhx38 A G 8: 110,281,813 (GRCm39) V735A possibly damaging Het
Dhx57 T G 17: 80,565,550 (GRCm39) E834A probably damaging Het
Dsg4 A G 18: 20,603,936 (GRCm39) D801G probably damaging Het
F830016B08Rik A T 18: 60,433,265 (GRCm39) H116L probably damaging Het
Fbxw18 T C 9: 109,517,907 (GRCm39) I360V possibly damaging Het
Fignl2 G A 15: 100,951,974 (GRCm39) P103S probably benign Het
Frmpd1 A G 4: 45,284,196 (GRCm39) T1006A probably benign Het
Ggnbp2 G T 11: 84,727,200 (GRCm39) C545* probably null Het
Gm3336 A G 8: 71,171,294 (GRCm39) probably benign Het
Gpr37 T C 6: 25,669,290 (GRCm39) N518S probably benign Het
Hbs1l T A 10: 21,218,440 (GRCm39) D312E possibly damaging Het
Hoxd10 C A 2: 74,523,064 (GRCm39) S247R probably benign Het
Ifnb1 A T 4: 88,440,981 (GRCm39) F11I probably benign Het
Marf1 T C 16: 13,969,184 (GRCm39) probably benign Het
Myo1f T A 17: 33,820,930 (GRCm39) V879E probably benign Het
Naip1 A G 13: 100,545,656 (GRCm39) F1291L probably benign Het
Nckap1l A G 15: 103,382,586 (GRCm39) E529G probably damaging Het
Npm3 T C 19: 45,736,668 (GRCm39) E157G probably damaging Het
Or10x4 A G 1: 174,218,775 (GRCm39) T47A probably damaging Het
Or4a67 T A 2: 88,597,985 (GRCm39) T225S possibly damaging Het
Or4a68 G T 2: 89,269,740 (GRCm39) N294K probably benign Het
Pex16 G A 2: 92,210,802 (GRCm39) G312D probably damaging Het
Ppp6r1 A G 7: 4,636,286 (GRCm39) V768A probably benign Het
Prrc1 A G 18: 57,495,564 (GRCm39) T14A probably damaging Het
Ranbp2 T C 10: 58,313,105 (GRCm39) L1275P probably damaging Het
Rnf214 C A 9: 45,811,121 (GRCm39) V181F probably damaging Het
Ror2 T C 13: 53,286,040 (GRCm39) N58S probably damaging Het
Selplg G A 5: 113,958,069 (GRCm39) T79I probably damaging Het
Setd1b G A 5: 123,295,500 (GRCm39) G1023S unknown Het
Sf3b2 C T 19: 5,324,852 (GRCm39) D845N probably damaging Het
Skint5 A G 4: 113,562,793 (GRCm39) V803A unknown Het
Slc25a46 T C 18: 31,716,319 (GRCm39) I394M possibly damaging Het
Snrnp27 A T 6: 86,657,935 (GRCm39) I101K possibly damaging Het
Spag17 C A 3: 99,934,906 (GRCm39) T704K probably benign Het
Tas2r144 T A 6: 42,193,058 (GRCm39) M266K possibly damaging Het
Tasor2 A G 13: 3,646,842 (GRCm39) V61A possibly damaging Het
Tbc1d31 T A 15: 57,818,746 (GRCm39) L783H probably benign Het
Tbck C A 3: 132,456,993 (GRCm39) probably benign Het
Vcan A G 13: 89,839,394 (GRCm39) V2050A probably damaging Het
Vmn1r70 T A 7: 10,367,987 (GRCm39) N158K probably damaging Het
Vmn2r103 T A 17: 20,013,121 (GRCm39) Y81N probably benign Het
Vmn2r103 A G 17: 20,013,726 (GRCm39) T173A probably benign Het
Ylpm1 T G 12: 85,061,754 (GRCm39) S552A unknown Het
Zdhhc17 A T 10: 110,817,967 (GRCm39) Y58* probably null Het
Other mutations in Dtx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02733:Dtx1 APN 5 120,819,500 (GRCm39) missense probably damaging 1.00
IGL03104:Dtx1 APN 5 120,833,030 (GRCm39) missense possibly damaging 0.77
IGL03139:Dtx1 APN 5 120,832,955 (GRCm39) missense probably damaging 0.96
R0094:Dtx1 UTSW 5 120,820,689 (GRCm39) missense probably damaging 1.00
R0173:Dtx1 UTSW 5 120,820,818 (GRCm39) unclassified probably benign
R0268:Dtx1 UTSW 5 120,819,356 (GRCm39) missense probably damaging 1.00
R0452:Dtx1 UTSW 5 120,833,057 (GRCm39) missense possibly damaging 0.94
R1109:Dtx1 UTSW 5 120,848,484 (GRCm39) start gained probably benign
R1456:Dtx1 UTSW 5 120,848,569 (GRCm39) utr 5 prime probably benign
R1541:Dtx1 UTSW 5 120,848,411 (GRCm39) start gained probably benign
R1554:Dtx1 UTSW 5 120,821,386 (GRCm39) missense probably damaging 1.00
R2042:Dtx1 UTSW 5 120,832,541 (GRCm39) missense probably benign 0.24
R2568:Dtx1 UTSW 5 120,848,249 (GRCm39) missense possibly damaging 0.84
R3946:Dtx1 UTSW 5 120,819,351 (GRCm39) missense possibly damaging 0.53
R4697:Dtx1 UTSW 5 120,832,473 (GRCm39) critical splice donor site probably null
R6150:Dtx1 UTSW 5 120,819,428 (GRCm39) missense probably damaging 1.00
R6564:Dtx1 UTSW 5 120,833,082 (GRCm39) missense probably benign 0.13
R6980:Dtx1 UTSW 5 120,819,422 (GRCm39) missense probably damaging 1.00
R7000:Dtx1 UTSW 5 120,833,148 (GRCm39) missense probably damaging 0.98
R7399:Dtx1 UTSW 5 120,820,458 (GRCm39) missense possibly damaging 0.60
R9117:Dtx1 UTSW 5 120,848,356 (GRCm39) missense probably benign
Z1176:Dtx1 UTSW 5 120,821,360 (GRCm39) missense probably benign
Z1177:Dtx1 UTSW 5 120,819,416 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TATCTCTGCTGCTCTTGCCGGAAG -3'
(R):5'- GGGTCTAAGCCCTGCCTGTACTAATG -3'

Sequencing Primer
(F):5'- AGCCAGATCCCCTTAGCG -3'
(R):5'- GACTGCCCGTTACATTCACT -3'
Posted On 2013-04-24