Incidental Mutation 'R4494:Otud1'
ID 330861
Institutional Source Beutler Lab
Gene Symbol Otud1
Ensembl Gene ENSMUSG00000043415
Gene Name OTU domain containing 1
Synonyms 4933428L19Rik
MMRRC Submission 041582-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.295) question?
Stock # R4494 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 19662563-19665394 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 19664146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 425 (T425I)
Ref Sequence ENSEMBL: ENSMUSP00000100617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052168]
AlphaFold Q9CUB6
Predicted Effect probably damaging
Transcript: ENSMUST00000052168
AA Change: T425I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000100617
Gene: ENSMUSG00000043415
AA Change: T425I

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atf7ip T A 6: 136,540,747 (GRCm39) probably null Het
Cacna1b T C 2: 24,542,950 (GRCm39) T1301A probably damaging Het
Calcr A T 6: 3,708,484 (GRCm39) probably null Het
Camsap1 T C 2: 25,842,770 (GRCm39) D262G probably damaging Het
Ccdc141 A G 2: 76,962,641 (GRCm39) V101A probably damaging Het
Ccdc170 T C 10: 4,464,128 (GRCm39) Y36H probably damaging Het
Cd177 A T 7: 24,451,428 (GRCm39) S492T probably benign Het
Chrna4 T A 2: 180,670,281 (GRCm39) I492F probably damaging Het
Cit T C 5: 116,012,043 (GRCm39) Y217H probably damaging Het
Cnbd1 T A 4: 19,098,150 (GRCm39) D90V probably benign Het
Cryba2 A G 1: 74,929,789 (GRCm39) F116S probably damaging Het
Ctbp1 T C 5: 33,408,213 (GRCm39) T240A possibly damaging Het
D130043K22Rik C T 13: 25,055,339 (GRCm39) S501L probably benign Het
Ddhd2 A G 8: 26,228,261 (GRCm39) F553S probably benign Het
Ddr2 C A 1: 169,815,983 (GRCm39) G575W probably damaging Het
Dip2c T C 13: 9,621,098 (GRCm39) V537A possibly damaging Het
Dnah12 C T 14: 26,593,812 (GRCm39) A752V probably damaging Het
Dnah7a T C 1: 53,488,197 (GRCm39) D3260G probably benign Het
Efemp2 T A 19: 5,530,339 (GRCm39) C309S probably damaging Het
Gse1 G A 8: 121,297,553 (GRCm39) probably benign Het
Hspa4l T C 3: 40,707,636 (GRCm39) S53P possibly damaging Het
Ighv5-4 T C 12: 113,561,204 (GRCm39) D72G probably benign Het
Igkv15-103 A G 6: 68,414,780 (GRCm39) N73S probably benign Het
Igsf11 T G 16: 38,831,703 (GRCm39) N183K possibly damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Kcnk18 T C 19: 59,223,263 (GRCm39) V136A probably damaging Het
Krt75 A T 15: 101,480,136 (GRCm39) Y240* probably null Het
Lyst G A 13: 13,809,968 (GRCm39) R546H probably damaging Het
Man2a2 C T 7: 80,009,023 (GRCm39) probably null Het
Mme A G 3: 63,254,613 (GRCm39) N491S probably benign Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Msi2 T C 11: 88,608,185 (GRCm39) D39G possibly damaging Het
Naa60 T A 16: 3,718,585 (GRCm39) C122* probably null Het
Nes A G 3: 87,884,120 (GRCm39) E793G probably damaging Het
Nfkb2 A G 19: 46,296,878 (GRCm39) D316G probably damaging Het
Nme6 C T 9: 109,671,122 (GRCm39) L121F probably damaging Het
Or4k47 T A 2: 111,451,493 (GRCm39) K309* probably null Het
Pimreg T C 11: 71,935,964 (GRCm39) V149A probably benign Het
Plbd1 T C 6: 136,590,856 (GRCm39) I437V probably damaging Het
Prlhr A T 19: 60,455,519 (GRCm39) M349K probably benign Het
Slc1a3 G A 15: 8,668,579 (GRCm39) T462I probably damaging Het
Slc25a26 A G 6: 94,575,384 (GRCm39) T198A probably damaging Het
Stkld1 A G 2: 26,836,638 (GRCm39) N268S probably benign Het
Svop T C 5: 114,183,688 (GRCm39) T195A probably damaging Het
Syt6 A G 3: 103,492,946 (GRCm39) E66G probably damaging Het
Tas2r129 A G 6: 132,928,317 (GRCm39) I85V probably benign Het
Tent5a A G 9: 85,207,100 (GRCm39) S233P probably damaging Het
Tprn T C 2: 25,158,904 (GRCm39) S643P probably damaging Het
Ush2a C T 1: 188,285,473 (GRCm39) T2003I possibly damaging Het
Vmn2r17 T A 5: 109,576,335 (GRCm39) V402E probably damaging Het
Vmn2r3 C G 3: 64,182,692 (GRCm39) G336R probably damaging Het
Wdr89 A T 12: 75,679,521 (GRCm39) D244E probably damaging 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
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'- CACTTAACTACTGGAGGGAGGC -3'
(R):5'- TAAGGCATTACACCTAAAGTCAGTC -3'

Sequencing Primer
(F):5'- TTAACTACTGGAGGGAGGCTGGAG -3'
(R):5'- CCTAAAGTCAGTCTACTAGGAAAGTG -3'
Posted On 2015-07-21