Incidental Mutation 'R3116:Desi2'
ID 264004
Institutional Source Beutler Lab
Gene Symbol Desi2
Ensembl Gene ENSMUSG00000026502
Gene Name desumoylating isopeptidase 2
Synonyms Pppde1, Fam152a, 5830417C01Rik
MMRRC Submission 040589-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R3116 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 178014983-178080164 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 178072008 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 104 (M104K)
Ref Sequence ENSEMBL: ENSMUSP00000027783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027783] [ENSMUST00000159284] [ENSMUST00000161075]
AlphaFold Q9D291
Predicted Effect probably damaging
Transcript: ENSMUST00000027783
AA Change: M104K

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000027783
Gene: ENSMUSG00000026502
AA Change: M104K

DomainStartEndE-ValueType
DUF862 5 150 1.92e-59 SMART
low complexity region 160 184 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000159284
AA Change: M88K

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000123860
Gene: ENSMUSG00000026502
AA Change: M88K

DomainStartEndE-ValueType
DUF862 1 134 3.39e-46 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000161075
AA Change: M88K

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124658
Gene: ENSMUSG00000026502
AA Change: M88K

DomainStartEndE-ValueType
DUF862 1 134 3.39e-46 SMART
low complexity region 144 168 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out mouse exhibit normal body size, body weight, brain size, brain weight and neuron apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,946,610 (GRCm39) I37F possibly damaging Het
Aoc1l3 A G 6: 48,964,331 (GRCm39) Y113C probably damaging Het
Ccdc146 T C 5: 21,521,953 (GRCm39) N357S probably benign Het
Csmd3 A G 15: 47,520,995 (GRCm39) F2783S probably damaging Het
Disp1 C T 1: 182,870,486 (GRCm39) V645I probably benign Het
Dock8 A T 19: 25,165,858 (GRCm39) H1914L probably benign Het
Fdft1 T C 14: 63,415,147 (GRCm39) I28M probably benign Het
Ffar3 T C 7: 30,555,231 (GRCm39) M30V probably benign Het
Grm3 A T 5: 9,620,752 (GRCm39) F164Y probably damaging Het
Ints5 T C 19: 8,872,136 (GRCm39) S32P possibly damaging Het
Itgam T A 7: 127,715,201 (GRCm39) S908R probably damaging Het
Kif20b C T 19: 34,947,480 (GRCm39) P1565L probably benign Het
Kntc1 A G 5: 123,940,121 (GRCm39) E1610G probably damaging Het
Krt24 T A 11: 99,173,262 (GRCm39) T298S possibly damaging Het
Magoh T C 4: 107,744,409 (GRCm39) V126A possibly damaging Het
Marchf6 G A 15: 31,486,265 (GRCm39) S362F probably benign Het
Meak7 G A 8: 120,495,056 (GRCm39) A234V probably benign Het
Mier3 T A 13: 111,843,182 (GRCm39) I178N probably damaging Het
Moxd1 G T 10: 24,177,429 (GRCm39) E582* probably null Het
Ncor2 A T 5: 125,101,230 (GRCm39) L2195Q probably damaging Het
Neil1 A T 9: 57,053,947 (GRCm39) D124E probably benign Het
Nhsl1 A T 10: 18,400,916 (GRCm39) Q714L probably damaging Het
Nipbl T A 15: 8,373,076 (GRCm39) M1057L probably benign Het
Npas3 G A 12: 54,114,508 (GRCm39) probably null Het
Oas1h C T 5: 120,999,679 (GRCm39) Q55* probably null Het
Or2a5 T C 6: 42,873,784 (GRCm39) V133A probably benign Het
Or2ag2b T A 7: 106,417,571 (GRCm39) F94I probably damaging Het
Or52h9 C A 7: 104,202,295 (GRCm39) H56Q probably benign Het
Or5p61 T C 7: 107,759,029 (GRCm39) E17G probably benign Het
Or7d9 A T 9: 20,197,523 (GRCm39) H176L probably benign Het
Phactr2 C A 10: 13,137,645 (GRCm39) E166* probably null Het
Prkdc C T 16: 15,482,222 (GRCm39) L422F probably benign Het
Pum1 T C 4: 130,499,971 (GRCm39) V1051A probably damaging Het
Pxdn T C 12: 30,052,306 (GRCm39) S828P possibly damaging Het
Rad21 T A 15: 51,828,397 (GRCm39) E557V probably null Het
Rtn3 T G 19: 7,409,355 (GRCm39) N888H probably damaging Het
Slc12a5 T A 2: 164,838,101 (GRCm39) probably null Het
Slc7a11 T A 3: 50,338,588 (GRCm39) M274L probably benign Het
Tacc2 A G 7: 130,360,979 (GRCm39) N825S probably damaging Het
Tln2 T A 9: 67,262,421 (GRCm39) D610V probably benign Het
Tmed11 C T 5: 108,927,705 (GRCm39) V110M probably damaging Het
Tmem92 T C 11: 94,673,254 (GRCm39) D3G possibly damaging Het
Trp53rkb C T 2: 166,636,009 (GRCm39) probably benign Het
Wdr91 A G 6: 34,882,522 (GRCm39) L209P probably damaging Het
Zfp511 T A 7: 139,616,504 (GRCm39) D46E probably benign Het
Zfp804a C A 2: 82,089,761 (GRCm39) Q1197K probably damaging Het
Other mutations in Desi2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02659:Desi2 APN 1 178,076,843 (GRCm39) missense probably damaging 1.00
R0416:Desi2 UTSW 1 178,083,887 (GRCm39) utr 3 prime probably benign
R0627:Desi2 UTSW 1 178,076,918 (GRCm39) missense possibly damaging 0.66
R1732:Desi2 UTSW 1 178,084,217 (GRCm39) utr 3 prime probably benign
R5301:Desi2 UTSW 1 178,071,952 (GRCm39) missense probably benign 0.35
R5770:Desi2 UTSW 1 178,084,061 (GRCm39) utr 3 prime probably benign
R5881:Desi2 UTSW 1 178,065,479 (GRCm39) missense probably damaging 1.00
R6104:Desi2 UTSW 1 178,077,018 (GRCm39) missense probably benign
R6641:Desi2 UTSW 1 178,071,943 (GRCm39) missense possibly damaging 0.96
R7289:Desi2 UTSW 1 178,083,702 (GRCm39) start gained probably benign
R7359:Desi2 UTSW 1 178,015,509 (GRCm39) missense probably benign 0.01
R7431:Desi2 UTSW 1 178,084,007 (GRCm39) nonsense probably null
R8053:Desi2 UTSW 1 178,065,482 (GRCm39) nonsense probably null
R8348:Desi2 UTSW 1 178,083,906 (GRCm39) utr 3 prime probably benign
R9515:Desi2 UTSW 1 178,084,170 (GRCm39) missense unknown
R9518:Desi2 UTSW 1 178,015,492 (GRCm39) missense probably benign
Z1088:Desi2 UTSW 1 178,015,510 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CTAACCCCAGTATTTAGCAGGG -3'
(R):5'- TGTCACGTGAAGGGCTTAAAG -3'

Sequencing Primer
(F):5'- TTAGCAGGGATATTTTTAGCT -3'
(R):5'- CTTTAATCCCAGCATGAGAGGCG -3'
Posted On 2015-02-05