Incidental Mutation 'R5825:Yod1'
ID 450100
Institutional Source Beutler Lab
Gene Symbol Yod1
Ensembl Gene ENSMUSG00000046404
Gene Name YOD1 deubiquitinase
Synonyms 9930028C20Rik
MMRRC Submission 044053-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5825 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 130645064-130652093 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 130646743 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 207 (W207R)
Ref Sequence ENSEMBL: ENSMUSP00000055318 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049813] [ENSMUST00000050406] [ENSMUST00000066863] [ENSMUST00000169659] [ENSMUST00000171479] [ENSMUST00000185233] [ENSMUST00000189534] [ENSMUST00000187089] [ENSMUST00000189167] [ENSMUST00000191347] [ENSMUST00000191301] [ENSMUST00000188520] [ENSMUST00000186777] [ENSMUST00000186867]
AlphaFold Q8CB27
PDB Structure Solution NMR Structure of Ubiquitin thioesterase OTU1 (EC 3.1.2.-) from Mus musculus, Northeast Structural Genomics Consortium Target MmT2A [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000049813
AA Change: W207R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055318
Gene: ENSMUSG00000046404
AA Change: W207R

DomainStartEndE-ValueType
PDB:2KZR|A 42 127 3e-54 PDB
Blast:UBQ 43 118 2e-20 BLAST
Pfam:OTU 150 268 3.4e-8 PFAM
ZnF_C2H2 313 337 2.12e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000050406
SMART Domains Protein: ENSMUSP00000133073
Gene: ENSMUSG00000026409

DomainStartEndE-ValueType
Pfam:6PF2K 28 251 8.1e-107 PFAM
Pfam:KTI12 40 206 9.6e-8 PFAM
Pfam:AAA_33 42 198 3.1e-9 PFAM
PGAM 253 400 3.82e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000066863
SMART Domains Protein: ENSMUSP00000066426
Gene: ENSMUSG00000026409

DomainStartEndE-ValueType
Pfam:6PF2K 28 251 1.2e-106 PFAM
Pfam:KTI12 41 207 3.5e-8 PFAM
Pfam:AAA_33 42 199 1.2e-10 PFAM
PGAM 253 400 3.82e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169659
SMART Domains Protein: ENSMUSP00000127587
Gene: ENSMUSG00000026409

DomainStartEndE-ValueType
Pfam:6PF2K 28 251 1.3e-106 PFAM
Pfam:KTI12 41 207 4.3e-8 PFAM
Pfam:AAA_33 42 199 1.2e-10 PFAM
PGAM 253 400 3.82e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171479
SMART Domains Protein: ENSMUSP00000129747
Gene: ENSMUSG00000026409

DomainStartEndE-ValueType
Pfam:6PF2K 28 251 1.2e-106 PFAM
Pfam:KTI12 41 208 3.7e-8 PFAM
Pfam:AAA_33 42 199 1.1e-10 PFAM
PGAM 253 400 3.82e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000185233
SMART Domains Protein: ENSMUSP00000140551
Gene: ENSMUSG00000026409

DomainStartEndE-ValueType
Pfam:6PF2K 28 251 1.2e-106 PFAM
Pfam:KTI12 41 207 3.5e-8 PFAM
Pfam:AAA_33 42 199 1.2e-10 PFAM
PGAM 253 400 3.82e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000189534
SMART Domains Protein: ENSMUSP00000140355
Gene: ENSMUSG00000026409

DomainStartEndE-ValueType
Pfam:6PF2K 28 251 1.2e-106 PFAM
Pfam:KTI12 41 208 3.7e-8 PFAM
Pfam:AAA_33 42 199 1.1e-10 PFAM
PGAM 253 400 3.82e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000187089
SMART Domains Protein: ENSMUSP00000140612
Gene: ENSMUSG00000026409

DomainStartEndE-ValueType
Pfam:6PF2K 28 251 1e-103 PFAM
Pfam:KTI12 41 207 2.3e-5 PFAM
Pfam:AAA_33 42 199 1.4e-8 PFAM
PGAM 253 400 2.9e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000189167
SMART Domains Protein: ENSMUSP00000140984
Gene: ENSMUSG00000026409

DomainStartEndE-ValueType
Pfam:6PF2K 28 251 6.3e-107 PFAM
Pfam:KTI12 41 209 2.3e-8 PFAM
Pfam:AAA_33 42 199 6.4e-11 PFAM
PGAM 253 342 1.31e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000191347
SMART Domains Protein: ENSMUSP00000140698
Gene: ENSMUSG00000026409

DomainStartEndE-ValueType
Pfam:6PF2K 28 251 1.2e-103 PFAM
Pfam:KTI12 41 207 2.4e-5 PFAM
Pfam:AAA_33 42 199 1.6e-8 PFAM
PGAM 253 400 2.9e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000191301
SMART Domains Protein: ENSMUSP00000140995
Gene: ENSMUSG00000026409

DomainStartEndE-ValueType
Pfam:6PF2K 28 181 9.5e-70 PFAM
Pfam:KTI12 41 183 3.2e-8 PFAM
Pfam:AAA_33 42 184 1.1e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000188520
SMART Domains Protein: ENSMUSP00000140786
Gene: ENSMUSG00000101904

DomainStartEndE-ValueType
Pfam:6PF2K 28 251 6.3e-107 PFAM
Pfam:KTI12 41 209 2.3e-8 PFAM
Pfam:AAA_33 42 199 6.4e-11 PFAM
PGAM 253 342 1.31e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000186777
Predicted Effect probably benign
Transcript: ENSMUST00000186867
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.1%
  • 10x: 95.3%
  • 20x: 83.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Protein ubiquitination controls many intracellular processes, including cell cycle progression, transcriptional activation, and signal transduction. This dynamic process, involving ubiquitin conjugating enzymes and deubiquitinating enzymes, adds and removes ubiquitin. Deubiquitinating enzymes are cysteine proteases that specifically cleave ubiquitin from ubiquitin-conjugated protein substrates. The protein encoded by this gene belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg A T 15: 60,791,976 (GRCm39) Y217* probably null Het
Abca2 A T 2: 25,326,748 (GRCm39) I567F probably benign Het
Acss2 T A 2: 155,391,098 (GRCm39) probably null Het
Atxn7l2 C A 3: 108,112,127 (GRCm39) A320S probably damaging Het
Bfsp1 C T 2: 143,669,379 (GRCm39) G400D probably benign Het
Ces5a G T 8: 94,252,295 (GRCm39) A199D probably damaging Het
Cfhr4 T A 1: 139,702,336 (GRCm39) probably null Het
Chd2 A T 7: 73,134,350 (GRCm39) probably null Het
Crebbp A G 16: 3,905,606 (GRCm39) V1705A probably damaging Het
Cyp2j8 T A 4: 96,395,451 (GRCm39) Q58L probably benign Het
Dlec1 T A 9: 118,972,036 (GRCm39) I1379N probably damaging Het
Dnah9 T C 11: 66,017,427 (GRCm39) H593R probably benign Het
Ep300 T A 15: 81,495,673 (GRCm39) C412S probably benign Het
Fam110a A G 2: 151,811,961 (GRCm39) S270P probably damaging Het
Gcc2 A G 10: 58,130,643 (GRCm39) T1412A probably damaging Het
Helz2 T C 2: 180,874,449 (GRCm39) E2015G probably benign Het
Hormad1 T C 3: 95,469,870 (GRCm39) V39A probably damaging Het
Igf2 G T 7: 142,207,592 (GRCm39) H168Q probably damaging Het
Il18rap A G 1: 40,570,726 (GRCm39) T223A probably benign Het
Itpr2 T C 6: 146,045,647 (GRCm39) E2573G probably damaging Het
Jcad T A 18: 4,674,896 (GRCm39) V886E probably benign Het
Klra1 T C 6: 130,357,592 (GRCm39) R12G probably damaging Het
Lamb1 A G 12: 31,368,613 (GRCm39) I1248V probably benign Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Mapk7 C T 11: 61,381,207 (GRCm39) R465Q possibly damaging Het
Mogs T C 6: 83,095,193 (GRCm39) V670A possibly damaging Het
Mroh2a C T 1: 88,158,402 (GRCm39) R150* probably null Het
Ninl A T 2: 150,782,644 (GRCm39) I1182N probably damaging Het
Nup160 A G 2: 90,510,114 (GRCm39) probably null Het
Nynrin A G 14: 56,101,683 (GRCm39) R451G probably benign Het
Or12e7 A G 2: 87,287,794 (GRCm39) D95G probably benign Het
Or5h22 T C 16: 58,895,024 (GRCm39) I140V probably benign Het
Osbp A G 19: 11,948,085 (GRCm39) T131A probably damaging Het
Pcdhga12 A C 18: 37,901,556 (GRCm39) D796A possibly damaging Het
Pcdhgb8 G A 18: 37,895,289 (GRCm39) V120I probably benign Het
Pdgfb A T 15: 79,881,869 (GRCm39) V213E probably benign Het
Phldb2 T C 16: 45,583,460 (GRCm39) M1013V probably benign Het
Pnma8a A G 7: 16,695,020 (GRCm39) S292G probably benign Het
Prrt4 A G 6: 29,177,182 (GRCm39) S196P probably benign Het
Rap1gds1 T C 3: 138,661,136 (GRCm39) M463V possibly damaging Het
Tmprss11g A T 5: 86,646,392 (GRCm39) S58R probably damaging Het
Traf3 C A 12: 111,221,795 (GRCm39) Q319K probably benign Het
Trappc8 C T 18: 21,006,977 (GRCm39) V194M probably damaging Het
Tyw1 A G 5: 130,296,929 (GRCm39) K182R probably damaging Het
Usp48 A G 4: 137,350,689 (GRCm39) T585A probably benign Het
Xkr6 G T 14: 64,056,481 (GRCm39) V387L probably benign Het
Zdhhc8 T C 16: 18,046,538 (GRCm39) S63G probably null Het
Zfp827 A G 8: 79,905,645 (GRCm39) E874G probably damaging Het
Zfy1 T A Y: 726,531 (GRCm39) K411N possibly damaging Het
Other mutations in Yod1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00585:Yod1 APN 1 130,646,870 (GRCm39) missense probably damaging 1.00
IGL02321:Yod1 APN 1 130,646,688 (GRCm39) missense probably damaging 1.00
IGL03018:Yod1 APN 1 130,646,695 (GRCm39) missense probably benign 0.08
R1310:Yod1 UTSW 1 130,646,567 (GRCm39) missense probably benign
R6115:Yod1 UTSW 1 130,646,800 (GRCm39) missense possibly damaging 0.48
R6367:Yod1 UTSW 1 130,645,275 (GRCm39) missense probably damaging 0.96
R6437:Yod1 UTSW 1 130,646,885 (GRCm39) missense probably damaging 1.00
R6489:Yod1 UTSW 1 130,645,275 (GRCm39) missense probably damaging 0.96
R6491:Yod1 UTSW 1 130,645,275 (GRCm39) missense probably damaging 0.96
R6729:Yod1 UTSW 1 130,645,275 (GRCm39) missense probably damaging 0.96
R6731:Yod1 UTSW 1 130,645,275 (GRCm39) missense probably damaging 0.96
R6732:Yod1 UTSW 1 130,645,275 (GRCm39) missense probably damaging 0.96
R6742:Yod1 UTSW 1 130,645,275 (GRCm39) missense probably damaging 0.96
R6743:Yod1 UTSW 1 130,645,275 (GRCm39) missense probably damaging 0.96
R6766:Yod1 UTSW 1 130,647,008 (GRCm39) nonsense probably null
R6781:Yod1 UTSW 1 130,645,275 (GRCm39) missense probably damaging 0.96
R7831:Yod1 UTSW 1 130,646,986 (GRCm39) missense probably damaging 0.99
R8058:Yod1 UTSW 1 130,646,806 (GRCm39) nonsense probably null
R8369:Yod1 UTSW 1 130,645,360 (GRCm39) missense probably benign 0.31
Predicted Primers PCR Primer
(F):5'- TAGTTATGTCAGGGAAGCTCTGC -3'
(R):5'- CTGAAGCGGATCGTAGTGAATG -3'

Sequencing Primer
(F):5'- TGTGCTTACCAGAACCGCAG -3'
(R):5'- CGGATCGTAGTGAATGCCATC -3'
Posted On 2016-12-20