Incidental Mutation 'R7273:Otud1'
ID 565386
Institutional Source Beutler Lab
Gene Symbol Otud1
Ensembl Gene ENSMUSG00000043415
Gene Name OTU domain containing 1
Synonyms 4933428L19Rik
MMRRC Submission 045357-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.292) question?
Stock # R7273 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 19662563-19665394 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 19663873 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 334 (D334G)
Ref Sequence ENSEMBL: ENSMUSP00000100617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052168]
AlphaFold Q9CUB6
Predicted Effect probably damaging
Transcript: ENSMUST00000052168
AA Change: D334G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100617
Gene: ENSMUSG00000043415
AA Change: D334G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (49/49)
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
Apol10a A T 15: 77,373,068 (GRCm39) I235F probably damaging Het
Aspn A T 13: 49,712,352 (GRCm39) E222D probably benign Het
Cfap221 A T 1: 119,881,948 (GRCm39) V280D possibly damaging Het
Chrd G A 16: 20,560,316 (GRCm39) R922Q probably benign Het
Cnga4 T A 7: 105,056,172 (GRCm39) V361E probably damaging Het
Col15a1 T A 4: 47,284,467 (GRCm39) probably null Het
Col6a4 A G 9: 105,877,656 (GRCm39) V2107A possibly damaging Het
Eea1 G T 10: 95,825,493 (GRCm39) V63F probably benign Het
Eml1 A G 12: 108,504,432 (GRCm39) H797R possibly damaging Het
Il1r2 A G 1: 40,151,167 (GRCm39) T141A probably benign Het
Il6st T C 13: 112,631,832 (GRCm39) V457A probably benign Het
Kif19b T A 5: 140,461,767 (GRCm39) V523E probably damaging Het
Lrrc56 T C 7: 140,789,578 (GRCm39) C532R probably benign Het
Lrrn4 T C 2: 132,721,749 (GRCm39) S23G unknown Het
Mapk8ip3 A T 17: 25,125,148 (GRCm39) D498E probably benign Het
Mcam T C 9: 44,052,241 (GRCm39) F584S possibly damaging Het
Mdga1 A T 17: 30,188,912 (GRCm39) D50E unknown Het
Mga T C 2: 119,765,695 (GRCm39) S1320P probably damaging Het
Muc5b G A 7: 141,405,307 (GRCm39) G905D unknown Het
Ncor2 T C 5: 125,100,687 (GRCm39) N1297S Het
Nisch A G 14: 30,896,364 (GRCm39) V946A unknown Het
Npc1l1 A G 11: 6,168,320 (GRCm39) F957S probably damaging Het
Nuggc A G 14: 65,857,057 (GRCm39) N402S probably damaging Het
Nup210l A G 3: 90,025,854 (GRCm39) T159A probably benign Het
Or10g6 A T 9: 39,933,961 (GRCm39) I91F probably benign Het
Pclo T C 5: 14,731,608 (GRCm39) V3370A unknown Het
Prdm16 A G 4: 154,429,910 (GRCm39) L353P probably damaging Het
Prepl A C 17: 85,389,420 (GRCm39) V128G probably benign Het
Pum1 T C 4: 130,478,791 (GRCm39) V568A probably damaging Het
Rab10 G T 12: 3,306,891 (GRCm39) S101R probably benign Het
Rfx3 C T 19: 27,779,858 (GRCm39) R435Q probably damaging Het
Rnf213 A T 11: 119,322,582 (GRCm39) probably null Het
Sema5a A G 15: 32,417,608 (GRCm39) D26G probably benign Het
Slc49a3 T C 5: 108,589,857 (GRCm39) D515G probably benign Het
Spata31d1b G A 13: 59,865,446 (GRCm39) V865I probably benign Het
Sycp3 A T 10: 88,305,428 (GRCm39) Q176H probably damaging Het
Tdpoz8 G T 3: 92,981,475 (GRCm39) M90I probably damaging Het
Tmprss11d A T 5: 86,485,098 (GRCm39) V102D probably damaging Het
Top1mt A G 15: 75,535,931 (GRCm39) V457A probably benign Het
Tubal3 T A 13: 3,980,675 (GRCm39) I129N probably damaging Het
Ubr3 G A 2: 69,809,677 (GRCm39) D1217N probably damaging Het
Uggt1 A G 1: 36,201,302 (GRCm39) I1146T probably damaging Het
Umod T C 7: 119,076,250 (GRCm39) Q172R probably benign Het
Uqcc5 G T 14: 30,846,555 (GRCm39) R55S probably damaging Het
Zdbf2 C T 1: 63,342,563 (GRCm39) A314V possibly damaging Het
Zfp787 A T 7: 6,136,039 (GRCm39) C71S possibly damaging Het
Zhx2 C T 15: 57,686,824 (GRCm39) A731V probably benign Het
Other mutations in Otud1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3832:Otud1 UTSW 2 19,662,951 (GRCm39) missense possibly damaging 0.93
R3840:Otud1 UTSW 2 19,663,554 (GRCm39) nonsense probably null
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
R8400:Otud1 UTSW 2 19,663,189 (GRCm39) missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- AGAAGCTAGCCCTGTACCTG -3'
(R):5'- CAAATACTGGGCCGTAGAGAATC -3'

Sequencing Primer
(F):5'- CAGGACAAGTACCTGAGGC -3'
(R):5'- AGAATCCTCTGGGCCCAG -3'
Posted On 2019-06-26