Incidental Mutation 'R3840:Otud1'
ID 277092
Institutional Source Beutler Lab
Gene Symbol Otud1
Ensembl Gene ENSMUSG00000043415
Gene Name OTU domain containing 1
Synonyms 4933428L19Rik
MMRRC Submission 040780-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.292) question?
Stock # R3840 (G1)
Quality Score 123
Status Not validated
Chromosome 2
Chromosomal Location 19662563-19665394 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 19663554 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 228 (E228*)
Ref Sequence ENSEMBL: ENSMUSP00000100617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052168]
AlphaFold Q9CUB6
Predicted Effect probably null
Transcript: ENSMUST00000052168
AA Change: E228*
SMART Domains Protein: ENSMUSP00000100617
Gene: ENSMUSG00000043415
AA Change: E228*

DomainStartEndE-ValueType
low complexity region 12 30 N/A INTRINSIC
low complexity region 37 45 N/A INTRINSIC
low complexity region 51 71 N/A INTRINSIC
low complexity region 79 88 N/A INTRINSIC
low complexity region 111 131 N/A INTRINSIC
low complexity region 173 203 N/A INTRINSIC
low complexity region 206 219 N/A INTRINSIC
low complexity region 225 236 N/A INTRINSIC
Pfam:OTU 288 406 2.6e-27 PFAM
Meta Mutation Damage Score 0.9665 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Deubiquitinating enzymes (DUBs; see MIM 603478) are proteases that specifically cleave ubiquitin (MIM 191339) linkages, negating the action of ubiquitin ligases. DUBA7 belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain.[supplied by OMIM, May 2008]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik A T 18: 6,620,104 (GRCm39) K11N probably benign Het
Abcc8 A G 7: 45,757,524 (GRCm39) I1375T possibly damaging Het
Ate1 A T 7: 130,117,867 (GRCm39) D39E probably damaging Het
BC035947 G T 1: 78,474,482 (GRCm39) N683K probably benign Het
Cdca2 A T 14: 67,917,720 (GRCm39) Y559* probably null Het
Cmya5 A G 13: 93,231,140 (GRCm39) V1316A probably damaging Het
Cntnap5b C T 1: 100,311,202 (GRCm39) T936I possibly damaging Het
Col6a5 T C 9: 105,805,810 (GRCm39) N1032S unknown Het
Cracd A T 5: 77,006,858 (GRCm39) Q1073L unknown Het
Epc2 A G 2: 49,378,750 (GRCm39) K68R probably damaging Het
Erbb3 A T 10: 128,406,193 (GRCm39) F1075I probably benign Het
F11r G T 1: 171,288,457 (GRCm39) R100L probably damaging Het
Fam171b C A 2: 83,710,406 (GRCm39) Q693K possibly damaging Het
Fam83c C T 2: 155,676,668 (GRCm39) R34H probably benign Het
Fmn2 GAAGA GAAGAAAGA 1: 174,409,599 (GRCm39) probably null Het
Gask1b T A 3: 79,815,897 (GRCm39) D302E probably benign Het
Ggt1 T A 10: 75,417,219 (GRCm39) Y5* probably null Het
Hsph1 T A 5: 149,544,180 (GRCm39) probably null Het
Jhy T A 9: 40,856,142 (GRCm39) E115V probably benign Het
Kcnu1 G T 8: 26,375,380 (GRCm39) V365L possibly damaging Het
Lrrc4c A G 2: 97,460,537 (GRCm39) T388A probably damaging Het
Mastl T C 2: 23,030,563 (GRCm39) D202G probably damaging Het
Medag T A 5: 149,350,888 (GRCm39) I121N probably damaging Het
Mideas T C 12: 84,218,383 (GRCm39) R526G probably damaging Het
Mocos C T 18: 24,809,681 (GRCm39) A428V probably damaging Het
Mok C T 12: 110,781,591 (GRCm39) V59M probably benign Het
Neb C A 2: 52,097,672 (GRCm39) probably null Het
Nr2c2 C T 6: 92,140,119 (GRCm39) R464W probably damaging Het
Or10al7 A G 17: 38,366,239 (GRCm39) S73P probably damaging Het
Or52s1 G A 7: 102,861,900 (GRCm39) G267R probably damaging Het
Pcdhga11 A T 18: 37,890,602 (GRCm39) N537Y probably damaging Het
Pkd1l1 T C 11: 8,839,050 (GRCm39) Y878C probably damaging Het
Podxl C T 6: 31,500,016 (GRCm39) V485I probably damaging Het
Psmd12 T C 11: 107,376,398 (GRCm39) I44T probably benign Het
Rap1gap T C 4: 137,444,758 (GRCm39) F182S probably damaging Het
Slc22a13 T C 9: 119,037,855 (GRCm39) D91G probably benign Het
Slc4a11 A G 2: 130,529,974 (GRCm39) F268S probably damaging Het
Snap91 C T 9: 86,721,618 (GRCm39) V74M probably damaging Het
Tmem87b T A 2: 128,668,304 (GRCm39) L150* probably null Het
Tmprss7 T A 16: 45,481,195 (GRCm39) R664* probably null Het
Tnfrsf11b T A 15: 54,115,478 (GRCm39) H373L probably damaging Het
Tnfrsf23 A G 7: 143,235,266 (GRCm39) S33P probably benign Het
Tro A G X: 149,429,198 (GRCm39) probably benign Het
Tulp1 A G 17: 28,572,689 (GRCm39) V489A probably damaging Het
Wac C A 18: 7,918,535 (GRCm39) P416H probably damaging Het
Zap70 T A 1: 36,817,498 (GRCm39) I247N probably damaging Het
Zfp617 G A 8: 72,685,961 (GRCm39) G97E probably damaging Het
Other mutations in Otud1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3832:Otud1 UTSW 2 19,662,951 (GRCm39) missense possibly damaging 0.93
R3841:Otud1 UTSW 2 19,663,554 (GRCm39) nonsense probably null
R4494:Otud1 UTSW 2 19,664,146 (GRCm39) missense probably damaging 1.00
R6770:Otud1 UTSW 2 19,663,993 (GRCm39) missense probably benign 0.35
R7253:Otud1 UTSW 2 19,663,742 (GRCm39) missense probably damaging 1.00
R7273:Otud1 UTSW 2 19,663,873 (GRCm39) missense probably damaging 1.00
R8400:Otud1 UTSW 2 19,663,189 (GRCm39) missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- GACAGGAACTTCCGACTGAG -3'
(R):5'- CAATGAGTGGGCTGAAGTGGTC -3'

Sequencing Primer
(F):5'- AACTTCCGACTGAGCGAGC -3'
(R):5'- CTTGCTGACAGCTCGGTAG -3'
Posted On 2015-04-06