Incidental Mutation 'IGL01571:Dxo'
ID 93281
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dxo
Ensembl Gene ENSMUSG00000040482
Gene Name decapping exoribonuclease
Synonyms Dom3z
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # IGL01571
Quality Score
Status
Chromosome 17
Chromosomal Location 35055998-35058162 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 35058016 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 214 (H214L)
Ref Sequence ENSEMBL: ENSMUSP00000133587 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046022] [ENSMUST00000046244] [ENSMUST00000077477] [ENSMUST00000159333] [ENSMUST00000173768] [ENSMUST00000174092] [ENSMUST00000173063] [ENSMUST00000172612] [ENSMUST00000161885] [ENSMUST00000173995] [ENSMUST00000173415] [ENSMUST00000173874] [ENSMUST00000180043]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000046022
SMART Domains Protein: ENSMUSP00000036265
Gene: ENSMUSG00000040356

DomainStartEndE-ValueType
low complexity region 7 22 N/A INTRINSIC
low complexity region 171 176 N/A INTRINSIC
low complexity region 208 237 N/A INTRINSIC
low complexity region 269 279 N/A INTRINSIC
DEXDc 304 487 3.61e-28 SMART
low complexity region 583 592 N/A INTRINSIC
HELICc 619 705 8.63e-17 SMART
Pfam:rRNA_proc-arch 760 1044 9.7e-39 PFAM
DSHCT 1067 1243 7.67e-77 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000046244
AA Change: H366L

PolyPhen 2 Score 0.396 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000047018
Gene: ENSMUSG00000040482
AA Change: H366L

DomainStartEndE-ValueType
low complexity region 168 184 N/A INTRINSIC
Pfam:RAI1 235 303 2e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000077477
SMART Domains Protein: ENSMUSP00000076686
Gene: ENSMUSG00000061207

DomainStartEndE-ValueType
Pfam:Stk19 37 251 1e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159333
SMART Domains Protein: ENSMUSP00000125311
Gene: ENSMUSG00000061207

DomainStartEndE-ValueType
Pfam:Stk19 1 129 3.2e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160993
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161238
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173768
SMART Domains Protein: ENSMUSP00000134052
Gene: ENSMUSG00000040482

DomainStartEndE-ValueType
Pfam:RAI1 1 33 5.6e-15 PFAM
low complexity region 54 64 N/A INTRINSIC
low complexity region 73 88 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000174092
AA Change: H214L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133587
Gene: ENSMUSG00000040482
AA Change: H214L

DomainStartEndE-ValueType
Pfam:RAI1 110 151 5.3e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174226
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173644
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172803
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172878
Predicted Effect probably benign
Transcript: ENSMUST00000173063
Predicted Effect probably benign
Transcript: ENSMUST00000172612
SMART Domains Protein: ENSMUSP00000133376
Gene: ENSMUSG00000040482

DomainStartEndE-ValueType
Pfam:RAI1 5 73 1.6e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161885
Predicted Effect probably benign
Transcript: ENSMUST00000173995
SMART Domains Protein: ENSMUSP00000134583
Gene: ENSMUSG00000040482

DomainStartEndE-ValueType
PDB:3FQJ|A 1 144 5e-99 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000173415
SMART Domains Protein: ENSMUSP00000134209
Gene: ENSMUSG00000040356

DomainStartEndE-ValueType
PDB:4A4Z|A 10 81 8e-14 PDB
Blast:DEXDc 19 76 2e-29 BLAST
Blast:DEXDc 136 242 9e-28 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000173874
SMART Domains Protein: ENSMUSP00000134332
Gene: ENSMUSG00000040482

DomainStartEndE-ValueType
low complexity region 168 184 N/A INTRINSIC
Pfam:RAI1 235 303 4.2e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000180043
AA Change: H366L

PolyPhen 2 Score 0.396 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000137234
Gene: ENSMUSG00000040482
AA Change: H366L

DomainStartEndE-ValueType
low complexity region 168 184 N/A INTRINSIC
Pfam:RAI1 235 302 2e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174363
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183497
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174887
Predicted Effect probably benign
Transcript: ENSMUST00000174569
SMART Domains Protein: ENSMUSP00000133448
Gene: ENSMUSG00000040482

DomainStartEndE-ValueType
Pfam:RAI1 15 65 1.3e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174684
SMART Domains Protein: ENSMUSP00000134653
Gene: ENSMUSG00000040482

DomainStartEndE-ValueType
PDB:3FQJ|A 2 48 1e-11 PDB
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. The function of its protein product is unknown, but its ubiquitous expression and conservation in both simple and complex eukaryotes suggests that this may be a housekeeping gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 T A 9: 21,450,377 (GRCm39) probably benign Het
Cep164 T C 9: 45,705,636 (GRCm39) Q127R possibly damaging Het
Ces1f T A 8: 93,984,996 (GRCm39) M444L probably benign Het
Chd5 T A 4: 152,468,572 (GRCm39) probably benign Het
Cpd T A 11: 76,673,122 (GRCm39) Y1341F probably damaging Het
Cryz T C 3: 154,327,380 (GRCm39) I268T probably damaging Het
Csnk2a1 G A 2: 152,117,326 (GRCm39) R278H probably damaging Het
Cyp4a12b A G 4: 115,295,354 (GRCm39) I487V probably benign Het
Dnajb5 T C 4: 42,956,516 (GRCm39) probably benign Het
Etfb T C 7: 43,102,383 (GRCm39) probably null Het
G6pc2 G A 2: 69,053,311 (GRCm39) V122I probably damaging Het
Gm5431 A T 11: 48,785,540 (GRCm39) D278E probably benign Het
Gstt2 C T 10: 75,670,005 (GRCm39) probably benign Het
Hnf4g A C 3: 3,716,326 (GRCm39) probably benign Het
Ifi44 T C 3: 151,451,174 (GRCm39) D259G probably damaging Het
Klk1 T C 7: 43,878,020 (GRCm39) V92A probably damaging Het
Lypla1 T C 1: 4,915,211 (GRCm39) I222T probably benign Het
Nbeal2 T C 9: 110,461,826 (GRCm39) N1510D possibly damaging Het
Ndufaf7 A G 17: 79,251,281 (GRCm39) R229G probably damaging Het
Nphp4 G A 4: 152,640,839 (GRCm39) V1069M probably benign Het
Nsd2 A G 5: 34,022,031 (GRCm39) H528R probably benign Het
Or10p21 A T 10: 128,847,696 (GRCm39) I181F probably damaging Het
Or4k48 C A 2: 111,475,725 (GRCm39) V206L probably benign Het
Or7a39 A G 10: 78,715,671 (GRCm39) I222V possibly damaging Het
Pigh A C 12: 79,132,634 (GRCm39) probably benign Het
Prr14l A T 5: 32,986,150 (GRCm39) M1115K probably benign Het
Psg21 T C 7: 18,388,750 (GRCm39) D114G probably damaging Het
Psmg2 G A 18: 67,786,293 (GRCm39) V218I probably benign Het
Pygb T C 2: 150,672,393 (GRCm39) S831P probably benign Het
Ryr2 T A 13: 11,736,647 (GRCm39) D2260V probably damaging Het
Sgo2a T C 1: 58,057,133 (GRCm39) S1106P probably damaging Het
Slc5a5 G A 8: 71,343,976 (GRCm39) probably benign Het
Tekt4 A G 17: 25,695,358 (GRCm39) D397G probably benign Het
Trrap T A 5: 144,770,097 (GRCm39) probably benign Het
Upf2 T C 2: 6,023,750 (GRCm39) probably benign Het
Usp17lb A T 7: 104,489,588 (GRCm39) N445K possibly damaging Het
Vmn2r111 A G 17: 22,790,373 (GRCm39) V211A probably damaging Het
Vmn2r23 A G 6: 123,681,366 (GRCm39) I91M probably damaging Het
Vps13b C T 15: 35,877,635 (GRCm39) probably benign Het
Zc3hc1 G A 6: 30,390,862 (GRCm39) T47I probably benign Het
Other mutations in Dxo
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0030:Dxo UTSW 17 35,056,914 (GRCm39) missense probably damaging 1.00
R1573:Dxo UTSW 17 35,057,270 (GRCm39) missense probably damaging 1.00
R2182:Dxo UTSW 17 35,057,868 (GRCm39) missense probably benign 0.22
R2294:Dxo UTSW 17 35,057,962 (GRCm39) critical splice acceptor site probably null
R2512:Dxo UTSW 17 35,056,718 (GRCm39) missense probably benign 0.01
R3410:Dxo UTSW 17 35,057,825 (GRCm39) missense probably damaging 1.00
R3703:Dxo UTSW 17 35,057,745 (GRCm39) intron probably benign
R4776:Dxo UTSW 17 35,057,974 (GRCm39) missense probably damaging 1.00
R6319:Dxo UTSW 17 35,057,367 (GRCm39) missense probably damaging 1.00
R7570:Dxo UTSW 17 35,056,616 (GRCm39) missense probably benign
R8443:Dxo UTSW 17 35,058,099 (GRCm39) missense probably benign
Posted On 2013-12-09