Incidental Mutation 'R1541:Dtx1'
ID 171725
Institutional Source Beutler Lab
Gene Symbol Dtx1
Ensembl Gene ENSMUSG00000029603
Gene Name deltex 1, E3 ubiquitin ligase
Synonyms Fxit1
MMRRC Submission 039580-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1541 (G1)
Quality Score 108
Status Not validated
Chromosome 5
Chromosomal Location 120818267-120849992 bp(-) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) T to A at 120848411 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000031607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031607]
AlphaFold Q61010
Predicted Effect probably benign
Transcript: ENSMUST00000031607
SMART Domains Protein: ENSMUSP00000031607
Gene: ENSMUSG00000029603

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: ENSMUST00000124079
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.3%
Validation Efficiency
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 A G 14: 103,286,769 (GRCm39) D24G probably damaging Het
Angptl2 G A 2: 33,136,177 (GRCm39) R454H probably benign Het
Atat1 T A 17: 36,215,223 (GRCm39) N181I probably damaging Het
Atp6v0d2 A C 4: 19,910,645 (GRCm39) F82V probably damaging Het
Calhm4 T C 10: 33,917,659 (GRCm39) H264R probably benign Het
Casp3 A G 8: 47,087,369 (GRCm39) I105M probably benign Het
Ccdc33 T A 9: 58,024,749 (GRCm39) D159V probably damaging Het
Cd163 A C 6: 124,304,920 (GRCm39) D1099A probably benign Het
Cep128 A T 12: 91,315,555 (GRCm39) S110R probably damaging Het
Cfap43 A T 19: 47,752,291 (GRCm39) probably null Het
Cfap58 T C 19: 47,971,969 (GRCm39) I633T probably damaging Het
Clvs1 A G 4: 9,281,814 (GRCm39) H86R probably benign Het
Comt T C 16: 18,230,565 (GRCm39) K48R probably benign Het
Crip2 T C 12: 113,108,586 (GRCm39) V64A possibly damaging Het
Cstdc5 T A 16: 36,187,863 (GRCm39) M1L probably damaging Het
Cwf19l2 T A 9: 3,456,760 (GRCm39) S698T probably damaging Het
Dis3l T C 9: 64,214,771 (GRCm39) I933V probably benign Het
Dnah8 C A 17: 30,966,221 (GRCm39) N2470K probably damaging Het
Dstn T C 2: 143,780,408 (GRCm39) V36A possibly damaging Het
Dzip1 G A 14: 119,116,890 (GRCm39) S782L probably damaging Het
Ece1 T A 4: 137,675,971 (GRCm39) probably null Het
Erich1 A G 8: 14,080,688 (GRCm39) I277T probably damaging Het
Gbp4 T A 5: 105,266,275 (GRCm39) M589L probably benign Het
Grip1 T C 10: 119,836,448 (GRCm39) I440T probably damaging Het
Helz C T 11: 107,560,874 (GRCm39) S1311L probably benign Het
Herc2 A T 7: 55,785,405 (GRCm39) I1552F probably damaging Het
Kif13a T C 13: 46,962,689 (GRCm39) T459A probably benign Het
Knop1 G A 7: 118,455,009 (GRCm39) probably benign Het
Llgl2 C A 11: 115,743,947 (GRCm39) T758K probably benign Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Lrrc71 T C 3: 87,649,148 (GRCm39) D340G possibly damaging Het
Luzp1 A G 4: 136,270,636 (GRCm39) D953G probably damaging Het
Mst1r T C 9: 107,794,562 (GRCm39) V1247A probably damaging Het
Ncoa4 A T 14: 31,898,845 (GRCm39) K555M probably damaging Het
Ncoa6 A T 2: 155,257,224 (GRCm39) L773Q probably benign Het
Ndc1 C T 4: 107,228,485 (GRCm39) Q70* probably null Het
Nfe2l3 C T 6: 51,434,585 (GRCm39) L382F probably damaging Het
Nlrp4b C A 7: 10,458,979 (GRCm39) T399N possibly damaging Het
Nsmce2 T A 15: 59,473,234 (GRCm39) D250E probably damaging Het
Nudt14 A T 12: 112,898,548 (GRCm39) L184Q probably damaging Het
Ogdhl G A 14: 32,062,624 (GRCm39) R570H possibly damaging Het
Or5p56 T C 7: 107,590,048 (GRCm39) F159L probably benign Het
Pira13 T C 7: 3,819,988 (GRCm39) D525G probably damaging Het
Plag1 A G 4: 3,904,085 (GRCm39) S369P probably benign Het
Ranbp2 A T 10: 58,318,916 (GRCm39) T2476S possibly damaging Het
Rnmt T C 18: 68,440,853 (GRCm39) L172P probably damaging Het
Sec24a T A 11: 51,634,623 (GRCm39) H101L probably benign Het
Sirpd T A 3: 15,385,744 (GRCm39) T53S possibly damaging Het
Srm A G 4: 148,677,881 (GRCm39) D173G probably damaging Het
Srp54b A G 12: 55,302,844 (GRCm39) D380G probably benign Het
Svs5 C T 2: 164,078,929 (GRCm39) R326Q possibly damaging Het
Tent4b T C 8: 88,972,227 (GRCm39) V222A probably damaging Het
Tfap2b C T 1: 19,304,294 (GRCm39) T350M probably damaging Het
Tie1 A T 4: 118,341,070 (GRCm39) C304S probably damaging Het
Tsc2 G T 17: 24,850,950 (GRCm39) T36N probably damaging Het
Wdhd1 A T 14: 47,505,649 (GRCm39) Y274* probably null Het
Wdr37 T C 13: 8,870,574 (GRCm39) T373A probably benign Het
Xirp2 A T 2: 67,342,634 (GRCm39) N1625I possibly damaging Het
Ythdf1 A C 2: 180,560,936 (GRCm39) S35A probably damaging Het
Zfp462 A G 4: 55,008,928 (GRCm39) N298S possibly damaging Het
Zfp541 T A 7: 15,812,437 (GRCm39) D363E probably benign Het
Zgpat A G 2: 181,020,658 (GRCm39) D277G probably benign Het
Znfx1 A T 2: 166,898,110 (GRCm39) N271K probably damaging 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
R0375:Dtx1 UTSW 5 120,819,464 (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
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

Sequencing Primer
Posted On 2014-04-13