Incidental Mutation 'IGL00430:Dexi'
ID 4012
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dexi
Ensembl Gene ENSMUSG00000038055
Gene Name dexamethasone-induced transcript
Synonyms 1810029J14Rik, D16Bwg0586e
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # IGL00430
Quality Score
Status
Chromosome 16
Chromosomal Location 10348071-10360918 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 10360309 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 82 (D82E)
Ref Sequence ENSEMBL: ENSMUSP00000139108 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038145] [ENSMUST00000038281] [ENSMUST00000066345] [ENSMUST00000115824] [ENSMUST00000115827] [ENSMUST00000115828] [ENSMUST00000184863] [ENSMUST00000155633] [ENSMUST00000150894]
AlphaFold Q9WUQ7
Predicted Effect probably benign
Transcript: ENSMUST00000038145
SMART Domains Protein: ENSMUSP00000040267
Gene: ENSMUSG00000068663

DomainStartEndE-ValueType
Pfam:FPL 51 199 9.2e-61 PFAM
low complexity region 395 408 N/A INTRINSIC
low complexity region 897 912 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000038281
AA Change: D82E

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000047676
Gene: ENSMUSG00000038055
AA Change: D82E

DomainStartEndE-ValueType
Pfam:Dexa_ind 1 95 4.6e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000066345
SMART Domains Protein: ENSMUSP00000065423
Gene: ENSMUSG00000068663

DomainStartEndE-ValueType
Pfam:FPL 51 199 1.1e-60 PFAM
coiled coil region 398 419 N/A INTRINSIC
low complexity region 877 924 N/A INTRINSIC
low complexity region 943 955 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115824
SMART Domains Protein: ENSMUSP00000111490
Gene: ENSMUSG00000068663

DomainStartEndE-ValueType
Pfam:FPL 51 198 5.9e-66 PFAM
coiled coil region 398 419 N/A INTRINSIC
low complexity region 877 924 N/A INTRINSIC
low complexity region 943 955 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115827
SMART Domains Protein: ENSMUSP00000111493
Gene: ENSMUSG00000068663

DomainStartEndE-ValueType
Pfam:FPL 51 199 8.7e-61 PFAM
low complexity region 395 408 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115828
SMART Domains Protein: ENSMUSP00000111494
Gene: ENSMUSG00000068663

DomainStartEndE-ValueType
Pfam:FPL 51 199 2.1e-61 PFAM
low complexity region 395 408 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000184863
AA Change: D82E

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000139108
Gene: ENSMUSG00000038055
AA Change: D82E

DomainStartEndE-ValueType
Pfam:Dexa_ind 1 95 4.6e-58 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130148
Predicted Effect probably benign
Transcript: ENSMUST00000155633
SMART Domains Protein: ENSMUSP00000123189
Gene: ENSMUSG00000068663

DomainStartEndE-ValueType
Pfam:FPL 51 199 1.1e-60 PFAM
coiled coil region 396 417 N/A INTRINSIC
low complexity region 875 922 N/A INTRINSIC
low complexity region 941 953 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000150894
SMART Domains Protein: ENSMUSP00000114577
Gene: ENSMUSG00000068663

DomainStartEndE-ValueType
low complexity region 45 58 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 G A 19: 43,772,641 (GRCm39) S17N probably benign Het
Atp2a1 C T 7: 126,046,388 (GRCm39) W72* probably null Het
Baz2b C A 2: 59,743,139 (GRCm39) A1611S probably benign Het
Cep290 A T 10: 100,344,586 (GRCm39) I475L probably benign Het
Cpsf4l C T 11: 113,600,044 (GRCm39) probably benign Het
Crispld2 A T 8: 120,760,299 (GRCm39) R408S probably damaging Het
Cyp3a25 A T 5: 145,930,170 (GRCm39) M145K probably damaging Het
Epyc A T 10: 97,517,009 (GRCm39) K282N probably benign Het
Ercc6l2 G T 13: 64,006,133 (GRCm39) V588F probably damaging Het
Galnt14 C T 17: 73,801,227 (GRCm39) V532I probably damaging Het
Grk1 C A 8: 13,463,128 (GRCm39) Y383* probably null Het
Gtpbp1 G T 15: 79,603,337 (GRCm39) G609W possibly damaging Het
Hadha C T 5: 30,325,145 (GRCm39) V682M possibly damaging Het
Igdcc3 A C 9: 65,089,301 (GRCm39) D499A probably damaging Het
Kcna10 T G 3: 107,102,044 (GRCm39) V225G probably damaging Het
Kcnh4 T C 11: 100,648,480 (GRCm39) T75A possibly damaging Het
Lama4 A G 10: 38,921,700 (GRCm39) E407G possibly damaging Het
Mrpl13 T A 15: 55,403,597 (GRCm39) K105N probably damaging Het
Pcdhb2 A T 18: 37,429,516 (GRCm39) probably null Het
Pck2 C T 14: 55,781,401 (GRCm39) A209V probably benign Het
Plce1 A G 19: 38,713,461 (GRCm39) E1243G probably damaging Het
Plekhh2 A T 17: 84,829,203 (GRCm39) M25L probably benign Het
Rasef G A 4: 73,689,662 (GRCm39) Q117* probably null Het
Rbm14 A G 19: 4,861,454 (GRCm39) V28A probably damaging Het
Rcan2 A G 17: 44,147,275 (GRCm39) T38A probably benign Het
Rin1 A G 19: 5,101,404 (GRCm39) N96S probably benign Het
Rrp12 A G 19: 41,865,773 (GRCm39) probably null Het
Slco1a6 A T 6: 142,047,377 (GRCm39) C404* probably null Het
St6galnac3 T C 3: 153,215,040 (GRCm39) N38S probably benign Het
Top2b T A 14: 16,422,692 (GRCm38) S1376R probably benign Het
Trip11 T C 12: 101,852,406 (GRCm39) I553V probably benign Het
Trip12 T G 1: 84,741,582 (GRCm39) H559P probably damaging Het
Uggt2 A T 14: 119,263,841 (GRCm39) L1063* probably null Het
Zmym6 T A 4: 126,995,742 (GRCm39) C269* probably null Het
Other mutations in Dexi
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0540:Dexi UTSW 16 10,360,426 (GRCm39) nonsense probably null
R0607:Dexi UTSW 16 10,360,426 (GRCm39) nonsense probably null
R1899:Dexi UTSW 16 10,360,382 (GRCm39) missense probably damaging 0.97
R3713:Dexi UTSW 16 10,360,553 (GRCm39) start codon destroyed probably null 0.05
R3715:Dexi UTSW 16 10,360,553 (GRCm39) start codon destroyed probably null 0.05
R7804:Dexi UTSW 16 10,360,349 (GRCm39) missense possibly damaging 0.63
R9044:Dexi UTSW 16 10,321,385 (GRCm39) intron probably benign
Posted On 2012-04-20