Incidental Mutation 'IGL03275:Desi1'
ID415392
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Desi1
Ensembl Gene ENSMUSG00000022472
Gene Namedesumoylating isopeptidase 1
SynonymsPppde2, Fam152b, D15Wsu75e
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.318) question?
Stock #IGL03275
Quality Score
Status
Chromosome15
Chromosomal Location81992523-82033862 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 82003762 bp
ZygosityHeterozygous
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]
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: 72,445,124 L125H probably damaging Het
2210408I21Rik A T 13: 77,298,555 T816S possibly damaging Het
Aspm T A 1: 139,487,295 I1438N probably damaging Het
BC005561 T A 5: 104,518,277 C222S probably benign Het
Bicdl1 A G 5: 115,731,160 Y134H probably damaging Het
Btnl1 A T 17: 34,385,512 K422N probably damaging Het
Ccdc158 T A 5: 92,629,632 I941F probably benign Het
Crnn A G 3: 93,149,418 K504E possibly damaging Het
Csmd1 T A 8: 16,157,092 I1308L probably benign Het
Cwf19l1 T C 19: 44,123,257 M246V probably benign Het
Foxf2 A G 13: 31,626,531 N151S probably damaging Het
Fryl A G 5: 73,148,033 V35A possibly damaging Het
Gabrg3 T C 7: 56,773,347 Y201C probably damaging Het
Gm11487 T A 4: 73,403,416 R127S possibly damaging Het
Gm813 T C 16: 58,615,756 Y68C probably damaging Het
Grb10 T A 11: 11,933,591 T500S possibly damaging Het
Hsdl2 A G 4: 59,617,747 *371W probably null Het
Irf7 C A 7: 141,265,146 R49L probably damaging Het
Itpr2 T C 6: 146,158,877 probably benign Het
Jam3 T C 9: 27,101,249 T201A probably damaging Het
Mst1 T C 9: 108,084,388 S606P possibly damaging Het
Olfr483 T A 7: 108,103,608 C100S probably damaging Het
Otog A G 7: 46,306,230 E2800G probably damaging Het
Ptpro C T 6: 137,450,006 P292S probably damaging Het
Rab10 A T 12: 3,256,959 Y79N probably damaging Het
Rc3h1 T C 1: 160,959,555 probably null Het
Slc2a3 C T 6: 122,736,742 probably null Het
Sptbn2 T C 19: 4,732,661 Y542H possibly damaging Het
Tas2r110 T C 6: 132,868,098 F31L probably damaging Het
Ttn A G 2: 76,945,107 S1864P probably damaging Het
Ttn A G 2: 76,717,344 S32161P probably damaging Het
Vmn1r228 A G 17: 20,776,842 I138T probably damaging Het
Vmn2r10 T A 5: 109,003,377 T124S probably benign Het
Other mutations in Desi1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01511:Desi1 APN 15 82002588 nonsense probably null
R0617:Desi1 UTSW 15 81998198 missense probably damaging 1.00
R3196:Desi1 UTSW 15 82003775 missense probably damaging 1.00
Posted On2016-08-02