Incidental Mutation 'R6150:Dtx1'
ID 489179
Institutional Source Beutler Lab
Gene Symbol Dtx1
Ensembl Gene ENSMUSG00000029603
Gene Name deltex 1, E3 ubiquitin ligase
Synonyms Fxit1
MMRRC Submission 044297-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6150 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 120818267-120849992 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120819428 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 590 (K590R)
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: K590R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031607
Gene: ENSMUSG00000029603
AA Change: K590R

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 noncoding transcript
Transcript: ENSMUST00000201264
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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 97% (56/58)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh3a1 A G 11: 61,104,334 (GRCm39) T74A probably benign Het
Arhgef1 T C 7: 24,618,782 (GRCm39) probably null Het
Art1 C G 7: 101,756,294 (GRCm39) R162G probably benign Het
Boll T A 1: 55,309,812 (GRCm39) I280F possibly damaging Het
Cep44 T C 8: 56,992,840 (GRCm39) E258G probably benign Het
Cutc T A 19: 43,748,328 (GRCm39) V75E probably damaging Het
Eps8 A T 6: 137,494,172 (GRCm39) D295E probably damaging Het
Erc2 C A 14: 27,863,248 (GRCm39) S491Y probably damaging Het
F2rl3 G T 8: 73,489,366 (GRCm39) A198S probably benign Het
Fam83b G A 9: 76,399,639 (GRCm39) T488M probably damaging Het
Fitm2 A G 2: 163,311,994 (GRCm39) L73P probably damaging Het
Fxyd1 T C 7: 30,754,228 (GRCm39) probably null Het
Gm17186 T C 14: 51,918,183 (GRCm39) noncoding transcript Het
Hivep3 C A 4: 119,591,274 (GRCm39) S94* probably null Het
Ifna1 T A 4: 88,768,349 (GRCm39) M9K probably null Het
Igsf11 G A 16: 38,843,711 (GRCm39) E275K probably damaging Het
Itga1 G A 13: 115,104,769 (GRCm39) L1086F probably benign Het
Itgav T C 2: 83,606,780 (GRCm39) S374P probably benign Het
Jmy A T 13: 93,577,641 (GRCm39) N842K probably benign Het
Kcnh6 G A 11: 105,911,557 (GRCm39) V595M possibly damaging Het
Kif13b T A 14: 64,989,088 (GRCm39) I823N probably damaging Het
Kif26b T C 1: 178,743,111 (GRCm39) L1069P probably damaging Het
Kl T A 5: 150,912,318 (GRCm39) M689K possibly damaging Het
Kmt2b G T 7: 30,287,902 (GRCm39) probably benign Het
Map10 G A 8: 126,398,328 (GRCm39) D574N probably damaging Het
Mau2 A T 8: 70,472,487 (GRCm39) H565Q probably benign Het
Myb A G 10: 21,017,668 (GRCm39) I641T probably damaging Het
Naaladl2 C A 3: 24,606,214 (GRCm39) G15V probably null Het
Or10k2 G A 8: 84,267,782 (GRCm39) C3Y probably benign Het
Or3a4 A C 11: 73,945,145 (GRCm39) S147A probably benign Het
Or6c210 A G 10: 129,495,803 (GRCm39) I43V probably benign Het
Or7d11 A T 9: 19,966,170 (GRCm39) N78K probably benign Het
Otog A G 7: 45,913,483 (GRCm39) E772G possibly damaging Het
Pla2g4d T C 2: 120,100,045 (GRCm39) D674G probably damaging Het
Pmpcb A G 5: 21,942,137 (GRCm39) probably null Het
Pomk A G 8: 26,473,284 (GRCm39) V223A possibly damaging Het
Prpf40a T C 2: 53,047,927 (GRCm39) M197V probably benign Het
Serpina1e A G 12: 103,917,066 (GRCm39) V201A probably benign Het
Six5 C T 7: 18,831,446 (GRCm39) P646S probably benign Het
Slc17a9 A G 2: 180,379,421 (GRCm39) I298V probably benign Het
Slc37a2 G T 9: 37,149,643 (GRCm39) T188K probably damaging Het
Slc6a11 T A 6: 114,222,579 (GRCm39) F525I probably benign Het
Slit2 A T 5: 48,461,516 (GRCm39) D1504V probably damaging Het
Srcap T A 7: 127,134,000 (GRCm39) M907K probably damaging Het
Sspo T C 6: 48,463,313 (GRCm39) L3746P probably benign Het
Supv3l1 A T 10: 62,271,501 (GRCm39) N376K possibly damaging Het
Tekt3 A T 11: 62,985,483 (GRCm39) T430S possibly damaging Het
Tex2 A T 11: 106,457,906 (GRCm39) V508D probably benign Het
Tmem184c G T 8: 78,323,069 (GRCm39) Q598K probably benign Het
Ube2v1 G A 2: 167,459,874 (GRCm39) R42* probably null Het
Usp45 A C 4: 21,810,797 (GRCm39) D331A probably damaging Het
Vangl1 T C 3: 102,091,835 (GRCm39) T84A probably damaging Het
Vgll3 T A 16: 65,625,064 (GRCm39) probably null Het
Vmn1r61 T A 7: 5,613,678 (GRCm39) H212L probably benign Het
Vmn2r114 A G 17: 23,510,269 (GRCm39) V737A probably benign Het
Vmn2r35 A T 7: 7,789,555 (GRCm39) D727E probably damaging Het
Vps18 T A 2: 119,128,073 (GRCm39) Y965* probably null Het
Zfp521 A T 18: 13,977,135 (GRCm39) C1093S probably damaging Het
Zfp971 A C 2: 177,675,247 (GRCm39) H282P 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
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
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
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'- AGATCCCCTTAGCGCTTCTG -3'
(R):5'- TACTAATGACAGGCTCCGAAAG -3'

Sequencing Primer
(F):5'- AGCGCTTCTGGCTCCTC -3'
(R):5'- CGCAGACTCATCTTCACT -3'
Posted On 2017-10-10