Incidental Mutation 'R5964:Dtx2'
ID 471939
Institutional Source Beutler Lab
Gene Symbol Dtx2
Ensembl Gene ENSMUSG00000004947
Gene Name deltex 2, E3 ubiquitin ligase
Synonyms
MMRRC Submission 044149-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5964 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 135994800-136032872 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 136023699 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 347 (V347D)
Ref Sequence ENSEMBL: ENSMUSP00000115122 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005072] [ENSMUST00000111142] [ENSMUST00000111144] [ENSMUST00000111145] [ENSMUST00000125827]
AlphaFold Q8R3P2
Predicted Effect probably benign
Transcript: ENSMUST00000005072
SMART Domains Protein: ENSMUSP00000005072
Gene: ENSMUSG00000004947

DomainStartEndE-ValueType
WWE 17 105 2.02e-31 SMART
WWE 107 182 6.98e-26 SMART
low complexity region 281 318 N/A INTRINSIC
RING 408 468 2.49e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111142
SMART Domains Protein: ENSMUSP00000106772
Gene: ENSMUSG00000004947

DomainStartEndE-ValueType
WWE 17 105 2.02e-31 SMART
WWE 107 182 6.98e-26 SMART
low complexity region 281 318 N/A INTRINSIC
RING 409 469 2.49e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111144
SMART Domains Protein: ENSMUSP00000106774
Gene: ENSMUSG00000004947

DomainStartEndE-ValueType
WWE 17 105 2.02e-31 SMART
WWE 107 182 6.98e-26 SMART
low complexity region 281 318 N/A INTRINSIC
RING 363 423 2.49e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111145
SMART Domains Protein: ENSMUSP00000106775
Gene: ENSMUSG00000004947

DomainStartEndE-ValueType
WWE 17 105 2.02e-31 SMART
WWE 107 182 6.98e-26 SMART
low complexity region 281 318 N/A INTRINSIC
RING 363 423 2.49e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125827
AA Change: V347D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000115122
Gene: ENSMUSG00000004947
AA Change: V347D

DomainStartEndE-ValueType
WWE 17 105 2.02e-31 SMART
WWE 107 182 6.98e-26 SMART
low complexity region 281 318 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142041
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.2%
Validation Efficiency 96% (87/91)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DTX2 functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and overtly normal with no detectable abnormalities in T or B cell development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam15 G A 3: 89,343,567 (GRCm38) Q581* probably null Het
Agl A G 3: 116,793,774 (GRCm38) V44A probably damaging Het
Alpk3 T A 7: 81,092,260 (GRCm38) D608E possibly damaging Het
Aspm C A 1: 139,455,227 (GRCm38) probably benign Het
Bbs2 T C 8: 94,068,367 (GRCm38) N692S probably benign Het
Bend4 A G 5: 67,417,818 (GRCm38) I240T probably benign Het
Casp8 G T 1: 58,833,736 (GRCm38) R277L possibly damaging Het
Ccdc61 A T 7: 18,900,940 (GRCm38) I123N probably damaging Het
Ccr9 T G 9: 123,779,434 (GRCm38) I60M probably benign Het
Cd163 T A 6: 124,326,572 (GRCm38) W1066R probably benign Het
Cd226 A T 18: 89,207,183 (GRCm38) H68L probably benign Het
Cdkn3 T A 14: 46,767,217 (GRCm38) C79S probably null Het
Cnnm1 A T 19: 43,469,723 (GRCm38) E658V probably benign Het
Cog7 T C 7: 121,956,029 (GRCm38) R304G probably damaging Het
Cpt1a T A 19: 3,365,760 (GRCm38) V286E possibly damaging Het
Creg2 C A 1: 39,624,954 (GRCm38) R212L probably benign Het
Cyp26a1 T G 19: 37,699,962 (GRCm38) S311A probably damaging Het
Cyp2b10 T C 7: 25,926,223 (GRCm38) Y484H probably benign Het
Cyp3a44 T A 5: 145,788,467 (GRCm38) Y308F possibly damaging Het
Dlg5 A G 14: 24,164,089 (GRCm38) V744A probably benign Het
Dlgap2 T A 8: 14,727,128 (GRCm38) Y124* probably null Het
Dnah3 T C 7: 119,922,880 (GRCm38) D4030G probably benign Het
Dnah5 A G 15: 28,458,584 (GRCm38) T4456A possibly damaging Het
Gigyf2 C T 1: 87,407,167 (GRCm38) T294M probably damaging Het
Gli3 C G 13: 15,726,162 (GRCm38) S1378* probably null Het
Gnao1 G A 8: 93,966,999 (GRCm38) D337N probably benign Het
Gp2 T A 7: 119,449,129 (GRCm38) Q422L probably benign Het
Ifit1 T A 19: 34,648,469 (GRCm38) M335K possibly damaging Het
Ism1 T C 2: 139,678,757 (GRCm38) S30P probably benign Het
Itgax A G 7: 128,140,447 (GRCm38) D677G probably damaging Het
Kansl1l G A 1: 66,725,922 (GRCm38) A442V probably damaging Het
Kif13a T C 13: 46,771,524 (GRCm38) I311M probably damaging Het
Lrrc37 A G 11: 103,542,120 (GRCm38) S1232P possibly damaging Het
Lsm14b T A 2: 180,031,425 (GRCm38) S84R probably benign Het
Lzts3 A G 2: 130,636,288 (GRCm38) Y297H probably damaging Het
Map4k3 A G 17: 80,644,762 (GRCm38) I205T probably damaging Het
Matn2 A T 15: 34,410,165 (GRCm38) N501I probably damaging Het
Mctp2 T C 7: 72,103,177 (GRCm38) E776G probably damaging Het
Mex3d A T 10: 80,382,587 (GRCm38) N265K probably damaging Het
Myo5a A G 9: 75,203,833 (GRCm38) T1534A probably benign Het
Ncoa7 T C 10: 30,704,636 (GRCm38) M35V probably damaging Het
Nek4 G A 14: 30,957,079 (GRCm38) probably null Het
Ngrn T C 7: 80,261,933 (GRCm38) probably null Het
Nlrp1a T A 11: 71,123,020 (GRCm38) Q468L probably benign Het
Or11g27 T A 14: 50,534,198 (GRCm38) M262K probably damaging Het
Or5b98 A C 19: 12,954,531 (GRCm38) Q314P probably benign Het
Phtf2 T C 5: 20,775,934 (GRCm38) D433G probably damaging Het
Prdm13 G A 4: 21,683,852 (GRCm38) Q140* probably null Het
Prtg G A 9: 72,892,254 (GRCm38) G778E probably benign Het
Pum3 T C 19: 27,420,051 (GRCm38) E308G probably damaging Het
Pwp1 T G 10: 85,882,886 (GRCm38) F306V probably damaging Het
Rab24 A T 13: 55,321,576 (GRCm38) Y27N probably damaging Het
Rnf215 T C 11: 4,135,898 (GRCm38) F126L probably benign Het
Samd13 A T 3: 146,680,696 (GRCm38) probably benign Het
Serac1 T A 17: 6,065,049 (GRCm38) H213L probably benign Het
Slc45a3 A G 1: 131,978,073 (GRCm38) E278G probably damaging Het
Slit3 C T 11: 35,700,236 (GRCm38) R1292C probably damaging Het
Slx4 A T 16: 4,000,951 (GRCm38) probably null Het
Smarca4 C A 9: 21,647,430 (GRCm38) T631K probably benign Het
Snx16 C T 3: 10,434,481 (GRCm38) R163Q possibly damaging Het
Stk40 T C 4: 126,128,895 (GRCm38) V140A probably damaging Het
Tcf12 A T 9: 71,868,240 (GRCm38) D409E probably damaging Het
Tgfbr2 G T 9: 116,110,255 (GRCm38) T168K possibly damaging Het
Ticam1 G T 17: 56,271,703 (GRCm38) H131N probably damaging Het
Ttn C A 2: 76,829,888 (GRCm38) R7458I possibly damaging Het
Ttn C A 2: 76,713,511 (GRCm38) E31298* probably null Het
Usp7 A G 16: 8,712,102 (GRCm38) V133A possibly damaging Het
Wbp1l C T 19: 46,654,180 (GRCm38) R191* probably null Het
Wdfy4 T C 14: 33,106,011 (GRCm38) E1118G probably damaging Het
Zfp81 G C 17: 33,336,845 (GRCm38) P3A probably damaging Het
Znhit6 A G 3: 145,576,933 (GRCm38) K21R possibly damaging Het
Other mutations in Dtx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01077:Dtx2 APN 5 136,029,203 (GRCm38) missense possibly damaging 0.95
IGL01536:Dtx2 APN 5 136,010,086 (GRCm38) utr 5 prime probably benign
IGL01584:Dtx2 APN 5 136,026,566 (GRCm38) missense possibly damaging 0.49
IGL01782:Dtx2 APN 5 136,010,127 (GRCm38) nonsense probably null
IGL03091:Dtx2 APN 5 136,012,374 (GRCm38) missense probably damaging 1.00
R0499:Dtx2 UTSW 5 136,029,103 (GRCm38) missense probably damaging 1.00
R0580:Dtx2 UTSW 5 136,032,326 (GRCm38) missense probably damaging 1.00
R1988:Dtx2 UTSW 5 136,032,293 (GRCm38) nonsense probably null
R2062:Dtx2 UTSW 5 136,030,577 (GRCm38) missense probably damaging 1.00
R2063:Dtx2 UTSW 5 136,030,577 (GRCm38) missense probably damaging 1.00
R2064:Dtx2 UTSW 5 136,030,577 (GRCm38) missense probably damaging 1.00
R2065:Dtx2 UTSW 5 136,030,577 (GRCm38) missense probably damaging 1.00
R2068:Dtx2 UTSW 5 136,030,577 (GRCm38) missense probably damaging 1.00
R2108:Dtx2 UTSW 5 136,030,577 (GRCm38) missense probably damaging 1.00
R2110:Dtx2 UTSW 5 136,030,577 (GRCm38) missense probably damaging 1.00
R2111:Dtx2 UTSW 5 136,030,577 (GRCm38) missense probably damaging 1.00
R2130:Dtx2 UTSW 5 136,012,040 (GRCm38) missense probably damaging 0.96
R2146:Dtx2 UTSW 5 136,030,610 (GRCm38) missense probably benign 0.21
R3108:Dtx2 UTSW 5 136,021,816 (GRCm38) missense probably benign 0.01
R3421:Dtx2 UTSW 5 136,012,478 (GRCm38) missense probably damaging 1.00
R4467:Dtx2 UTSW 5 136,012,076 (GRCm38) missense probably damaging 1.00
R4741:Dtx2 UTSW 5 136,026,517 (GRCm38) missense probably benign 0.00
R5083:Dtx2 UTSW 5 136,012,190 (GRCm38) missense probably damaging 1.00
R5318:Dtx2 UTSW 5 136,012,100 (GRCm38) missense possibly damaging 0.92
R5705:Dtx2 UTSW 5 136,010,295 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCGTGTGCACATACCAAAACAG -3'
(R):5'- GATTGAACTAAACCTCCTCCTGC -3'

Sequencing Primer
(F):5'- GTGTGCACATACCAAAACAGAGACAC -3'
(R):5'- TGCACCCCAAGATAAACTTTACCTAG -3'
Posted On 2017-03-31