Incidental Mutation 'IGL03139:Dtx1'
ID 410642
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dtx1
Ensembl Gene ENSMUSG00000029603
Gene Name deltex 1, E3 ubiquitin ligase
Synonyms Fxit1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03139
Quality Score
Chromosome 5
Chromosomal Location 120818267-120849992 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 120832955 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 161 (R161L)
Ref Sequence ENSEMBL: ENSMUSP00000031607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031607]
AlphaFold Q61010
Predicted Effect probably damaging
Transcript: ENSMUST00000031607
AA Change: R161L

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000031607
Gene: ENSMUSG00000029603
AA Change: R161L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145174
Coding Region Coverage
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A T 5: 99,391,067 (GRCm39) F97L probably benign Het
Acad10 T C 5: 121,764,145 (GRCm39) Y928C probably benign Het
Aqp7 A G 4: 41,045,326 (GRCm39) M18T probably benign Het
Atxn7 T C 14: 14,052,994 (GRCm38) V144A probably damaging Het
Baiap2l2 T A 15: 79,155,753 (GRCm39) N107I probably damaging Het
Cd180 A G 13: 102,842,924 (GRCm39) K657E probably damaging Het
Cep192 T C 18: 67,961,547 (GRCm39) probably null Het
Cma2 A G 14: 56,211,256 (GRCm39) I183V probably damaging Het
Col18a1 C A 10: 76,949,177 (GRCm39) A112S possibly damaging Het
Ctu2 A G 8: 123,205,446 (GRCm39) D100G possibly damaging Het
Defb29 T C 2: 152,380,812 (GRCm39) K66E probably damaging Het
Dis3l T A 9: 64,219,232 (GRCm39) D566V probably damaging Het
Efcab6 T A 15: 83,836,422 (GRCm39) L436F probably benign Het
Fip1l1 A G 5: 74,731,776 (GRCm39) I254V possibly damaging Het
Gid8 C A 2: 180,356,501 (GRCm39) A46E probably damaging Het
Grm8 G T 6: 27,618,649 (GRCm39) Q398K probably damaging Het
Hsd17b7 C T 1: 169,780,649 (GRCm39) E320K probably damaging Het
Iigp1c T C 18: 60,379,221 (GRCm39) V252A probably benign Het
Kcnt1 T C 2: 25,784,480 (GRCm39) probably benign Het
Lrrc8a T C 2: 30,145,683 (GRCm39) S166P probably damaging Het
Map2k6 A T 11: 110,387,299 (GRCm39) probably benign Het
Mmab A G 5: 114,571,405 (GRCm39) L157P probably damaging Het
Mmrn1 A T 6: 60,953,324 (GRCm39) E535V probably damaging Het
Mup4 T C 4: 59,958,482 (GRCm39) probably benign Het
Nup210 A G 6: 90,997,221 (GRCm39) S820P probably benign Het
Or52b4 A G 7: 102,184,517 (GRCm39) K188E possibly damaging Het
Pik3cg T C 12: 32,242,222 (GRCm39) I963V probably damaging Het
Plcg1 T C 2: 160,590,049 (GRCm39) probably null Het
Plscr1 T C 9: 92,148,438 (GRCm39) probably benign Het
Prss36 C T 7: 127,532,783 (GRCm39) G202E probably damaging Het
Psen2 A T 1: 180,068,350 (GRCm39) V101E probably damaging Het
Saxo1 T C 4: 86,405,999 (GRCm39) M67V possibly damaging Het
Sfrp4 G A 13: 19,807,728 (GRCm39) M42I probably damaging Het
Strn3 C A 12: 51,699,633 (GRCm39) probably benign Het
Tgfb1i1 C A 7: 127,848,476 (GRCm39) P197Q possibly damaging Het
Thsd4 A G 9: 59,904,456 (GRCm39) V580A probably benign Het
Tjp1 C A 7: 64,990,182 (GRCm39) probably benign Het
Tprn C T 2: 25,154,066 (GRCm39) A456V probably benign Het
Ttc34 T C 4: 154,945,727 (GRCm39) Y763H probably benign Het
Ttn T C 2: 76,601,507 (GRCm39) T18686A probably benign Het
Uggt2 T A 14: 119,332,722 (GRCm39) T71S probably benign Het
Vmn2r120 T A 17: 57,831,742 (GRCm39) Y349F probably benign Het
Zbtb41 A G 1: 139,351,576 (GRCm39) T230A probably benign 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
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
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
Posted On 2016-08-02