Incidental Mutation 'IGL03275:Desi1'
ID 415392
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Desi1
Ensembl Gene ENSMUSG00000022472
Gene Name desumoylating isopeptidase 1
Synonyms Pppde2, Fam152b, D15Wsu75e
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.305) question?
Stock # IGL03275
Quality Score
Status
Chromosome 15
Chromosomal Location 81876724-81900364 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 81887963 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 36 (I36F)
Ref Sequence ENSEMBL: ENSMUSP00000114888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023110] [ENSMUST00000089187] [ENSMUST00000135988] [ENSMUST00000146628] [ENSMUST00000152227] [ENSMUST00000165777]
AlphaFold Q9CQT7
Predicted Effect probably benign
Transcript: ENSMUST00000023110
AA Change: H47L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000023110
Gene: ENSMUSG00000022472
AA Change: H47L

DomainStartEndE-ValueType
PDB:2WP7|A 1 30 2e-14 PDB
Blast:DUF862 7 56 3e-10 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000089187
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129039
Predicted Effect probably damaging
Transcript: ENSMUST00000135988
AA Change: I36F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000117613
Gene: ENSMUSG00000022472
AA Change: I36F

DomainStartEndE-ValueType
DUF862 7 106 5.05e-13 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000146628
AA Change: I36F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114888
Gene: ENSMUSG00000022472
AA Change: I36F

DomainStartEndE-ValueType
PDB:3EBQ|A 1 84 9e-22 PDB
Blast:DUF862 7 84 6e-16 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000152227
AA Change: I36F

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000121504
Gene: ENSMUSG00000022472
AA Change: I36F

DomainStartEndE-ValueType
DUF862 7 150 1.68e-59 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165777
SMART Domains Protein: ENSMUSP00000131212
Gene: ENSMUSG00000022471

DomainStartEndE-ValueType
low complexity region 11 20 N/A INTRINSIC
Pfam:Ku_N 35 106 7.6e-27 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik T A 8: 73,198,968 (GRCm39) L125H probably damaging Het
2210408I21Rik A T 13: 77,446,674 (GRCm39) T816S possibly damaging Het
Aspm T A 1: 139,415,033 (GRCm39) I1438N probably damaging Het
Bicdl1 A G 5: 115,869,219 (GRCm39) Y134H probably damaging Het
Btnl1 A T 17: 34,604,486 (GRCm39) K422N probably damaging Het
Ccdc158 T A 5: 92,777,491 (GRCm39) I941F probably benign Het
Crnn A G 3: 93,056,725 (GRCm39) K504E possibly damaging Het
Csmd1 T A 8: 16,207,106 (GRCm39) I1308L probably benign Het
Cwf19l1 T C 19: 44,111,696 (GRCm39) M246V probably benign Het
Foxf2 A G 13: 31,810,514 (GRCm39) N151S probably damaging Het
Fryl A G 5: 73,305,376 (GRCm39) V35A possibly damaging Het
Ftdc1 T C 16: 58,436,119 (GRCm39) Y68C probably damaging Het
Gabrg3 T C 7: 56,423,095 (GRCm39) Y201C probably damaging Het
Grb10 T A 11: 11,883,591 (GRCm39) T500S possibly damaging Het
Hsdl2 A G 4: 59,617,747 (GRCm39) *371W probably null Het
Irf7 C A 7: 140,845,059 (GRCm39) R49L probably damaging Het
Itpr2 T C 6: 146,060,375 (GRCm39) probably benign Het
Jam3 T C 9: 27,012,545 (GRCm39) T201A probably damaging Het
Msantd5f6 T A 4: 73,321,653 (GRCm39) R127S possibly damaging Het
Mst1 T C 9: 107,961,587 (GRCm39) S606P possibly damaging Het
Or5p59 T A 7: 107,702,815 (GRCm39) C100S probably damaging Het
Otog A G 7: 45,955,654 (GRCm39) E2800G probably damaging Het
Ptpro C T 6: 137,427,004 (GRCm39) P292S probably damaging Het
Rab10 A T 12: 3,306,959 (GRCm39) Y79N probably damaging Het
Rc3h1 T C 1: 160,787,125 (GRCm39) probably null Het
Slc2a3 C T 6: 122,713,701 (GRCm39) probably null Het
Sptbn2 T C 19: 4,782,689 (GRCm39) Y542H possibly damaging Het
Tas2r110 T C 6: 132,845,061 (GRCm39) F31L probably damaging Het
Thoc2l T A 5: 104,666,143 (GRCm39) C222S probably benign Het
Ttn A G 2: 76,547,688 (GRCm39) S32161P probably damaging Het
Ttn A G 2: 76,775,451 (GRCm39) S1864P probably damaging Het
Vmn1r228 A G 17: 20,997,104 (GRCm39) I138T probably damaging Het
Vmn2r10 T A 5: 109,151,243 (GRCm39) T124S probably benign Het
Other mutations in Desi1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01511:Desi1 APN 15 81,886,789 (GRCm39) nonsense probably null
R0617:Desi1 UTSW 15 81,882,399 (GRCm39) missense probably damaging 1.00
R3196:Desi1 UTSW 15 81,887,976 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02