Incidental Mutation 'IGL01782:Dtx2'
ID153969
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dtx2
Ensembl Gene ENSMUSG00000004947
Gene Namedeltex 2, E3 ubiquitin ligase
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01782
Quality Score
Status
Chromosome5
Chromosomal Location135994800-136032872 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 136010127 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 13 (Y13*)
Ref Sequence ENSEMBL: ENSMUSP00000142472 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005072] [ENSMUST00000111142] [ENSMUST00000111144] [ENSMUST00000111145] [ENSMUST00000125827] [ENSMUST00000130345] [ENSMUST00000199239]
Predicted Effect probably null
Transcript: ENSMUST00000005072
AA Change: Y13*
SMART Domains Protein: ENSMUSP00000005072
Gene: ENSMUSG00000004947
AA Change: Y13*

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 null
Transcript: ENSMUST00000111142
AA Change: Y13*
SMART Domains Protein: ENSMUSP00000106772
Gene: ENSMUSG00000004947
AA Change: Y13*

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 null
Transcript: ENSMUST00000111144
AA Change: Y13*
SMART Domains Protein: ENSMUSP00000106774
Gene: ENSMUSG00000004947
AA Change: Y13*

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 null
Transcript: ENSMUST00000111145
AA Change: Y13*
SMART Domains Protein: ENSMUSP00000106775
Gene: ENSMUSG00000004947
AA Change: Y13*

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 null
Transcript: ENSMUST00000125827
AA Change: Y13*
SMART Domains Protein: ENSMUSP00000115122
Gene: ENSMUSG00000004947
AA Change: Y13*

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 probably benign
Transcript: ENSMUST00000130345
Predicted Effect probably null
Transcript: ENSMUST00000199239
AA Change: Y13*
SMART Domains Protein: ENSMUSP00000142472
Gene: ENSMUSG00000004947
AA Change: Y13*

DomainStartEndE-ValueType
WWE 17 105 8.4e-34 SMART
WWE 107 151 3.9e-4 SMART
Coding Region Coverage
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aagab T C 9: 63,616,713 V34A probably benign Het
Acacb G T 5: 114,200,520 G764W probably damaging Het
Ankib1 A G 5: 3,727,607 C428R probably damaging Het
Card11 A G 5: 140,927,726 M1T probably null Het
Ccdc62 T A 5: 123,954,576 N541K possibly damaging Het
Cep290 C T 10: 100,545,125 Q1742* probably null Het
Cyp2c23 T C 19: 44,029,115 T25A possibly damaging Het
Dync1h1 T C 12: 110,614,940 I273T probably damaging Het
E430018J23Rik T C 7: 127,393,304 T45A probably benign Het
Etfb A G 7: 43,454,542 T134A probably damaging Het
Fig4 A C 10: 41,270,400 L182R probably benign Het
Gm10220 A T 5: 26,117,023 L217Q probably damaging Het
Gm4871 T G 5: 145,030,360 probably benign Het
Gm5346 T A 8: 43,626,735 T151S probably benign Het
Gm5464 T C 14: 66,869,388 probably benign Het
Lurap1 A G 4: 116,144,503 probably benign Het
Mmp17 T A 5: 129,602,141 V368E probably damaging Het
Mrpl22 T A 11: 58,171,844 probably null Het
Nisch G A 14: 31,176,639 probably benign Het
Odf4 A T 11: 68,926,633 H76Q probably damaging Het
Olfr330 T A 11: 58,529,159 M276L probably benign Het
Olfr777 C T 10: 129,269,039 V95I probably benign Het
Orc1 T C 4: 108,606,268 S661P possibly damaging Het
Otud4 T G 8: 79,673,011 F784V possibly damaging Het
Prkch A G 12: 73,759,662 D561G probably damaging Het
Pttg1ip T C 10: 77,581,929 probably null Het
Ranbp2 A G 10: 58,478,309 K1617R probably damaging Het
Rarb T G 14: 16,434,180 S333R probably damaging Het
Rps6ka2 A G 17: 7,236,124 K99E probably benign Het
Sel1l2 A T 2: 140,243,935 W542R probably damaging Het
Sema3g G T 14: 31,227,791 R643L probably damaging Het
Sltm T A 9: 70,573,641 D258E probably damaging Het
Stx18 G A 5: 38,106,611 V80I possibly damaging Het
Taar2 A T 10: 23,941,144 N194I probably damaging Het
Ube2r2 T C 4: 41,174,129 probably null Het
Unk C A 11: 116,058,379 N645K probably benign Het
Vmn1r73 A G 7: 11,756,738 K161R probably benign Het
Vps13a T C 19: 16,754,337 D137G probably damaging Het
Xrra1 A G 7: 99,875,194 T104A possibly damaging Het
Zfp410 T A 12: 84,327,274 probably benign Het
Other mutations in Dtx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01077:Dtx2 APN 5 136029203 missense possibly damaging 0.95
IGL01536:Dtx2 APN 5 136010086 utr 5 prime probably benign
IGL01584:Dtx2 APN 5 136026566 missense possibly damaging 0.49
IGL03091:Dtx2 APN 5 136012374 missense probably damaging 1.00
R0499:Dtx2 UTSW 5 136029103 missense probably damaging 1.00
R0580:Dtx2 UTSW 5 136032326 missense probably damaging 1.00
R1988:Dtx2 UTSW 5 136032293 nonsense probably null
R2062:Dtx2 UTSW 5 136030577 missense probably damaging 1.00
R2063:Dtx2 UTSW 5 136030577 missense probably damaging 1.00
R2064:Dtx2 UTSW 5 136030577 missense probably damaging 1.00
R2065:Dtx2 UTSW 5 136030577 missense probably damaging 1.00
R2068:Dtx2 UTSW 5 136030577 missense probably damaging 1.00
R2108:Dtx2 UTSW 5 136030577 missense probably damaging 1.00
R2110:Dtx2 UTSW 5 136030577 missense probably damaging 1.00
R2111:Dtx2 UTSW 5 136030577 missense probably damaging 1.00
R2130:Dtx2 UTSW 5 136012040 missense probably damaging 0.96
R2146:Dtx2 UTSW 5 136030610 missense probably benign 0.21
R3108:Dtx2 UTSW 5 136021816 missense probably benign 0.01
R3421:Dtx2 UTSW 5 136012478 missense probably damaging 1.00
R4467:Dtx2 UTSW 5 136012076 missense probably damaging 1.00
R4741:Dtx2 UTSW 5 136026517 missense probably benign 0.00
R5083:Dtx2 UTSW 5 136012190 missense probably damaging 1.00
R5318:Dtx2 UTSW 5 136012100 missense possibly damaging 0.92
R5705:Dtx2 UTSW 5 136010295 missense probably damaging 1.00
R5964:Dtx2 UTSW 5 136023699 missense probably benign 0.00
Posted On2014-02-04