Incidental Mutation 'R6077:Otulin'
ID 482813
Institutional Source Beutler Lab
Gene Symbol Otulin
Ensembl Gene ENSMUSG00000046034
Gene Name OTU deubiquitinase with linear linkage specificity
Synonyms Fam105b, m7-1Sapc, m3Sapc, gumby
MMRRC Submission 044238-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6077 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 27606005-27630793 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 27611696 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 166 (T166A)
Ref Sequence ENSEMBL: ENSMUSP00000057893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059662] [ENSMUST00000228179] [ENSMUST00000228439]
AlphaFold Q3UCV8
Predicted Effect probably benign
Transcript: ENSMUST00000059662
AA Change: T166A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000057893
Gene: ENSMUSG00000046034
AA Change: T166A

DomainStartEndE-ValueType
low complexity region 18 33 N/A INTRINSIC
low complexity region 61 70 N/A INTRINSIC
Pfam:Peptidase_C101 80 344 4.7e-129 PFAM
Pfam:Peptidase_C65 96 344 1.1e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000228179
Predicted Effect probably benign
Transcript: ENSMUST00000228439
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peptidase C65 family of ubiquitin isopeptidases. Members of this family remove ubiquitin from proteins. The encoded enzyme specifically recognizes and removes M1(Met1)-linked, or linear, ubiquitin chains from protein substrates. Linear ubiquitin chains are known to regulate the NF-kappa B signaling pathway in the context of immunity and inflammation. Mutations in this gene cause a potentially fatal autoinflammatory syndrome in human patients. [provided by RefSeq, Sep 2016]
PHENOTYPE: Embryos homozygous for an ENU-induced mutation exhibit micrognathia, microcephaly, paucity of blood, and abnormal facial and vestibulocochlear nerve morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly C T 11: 100,410,583 (GRCm39) V132I probably benign Het
Adgrb3 A T 1: 25,133,081 (GRCm39) L1335* probably null Het
Adgre5 A G 8: 84,454,595 (GRCm39) S301P probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Aldh1b1 A G 4: 45,802,525 (GRCm39) Y21C possibly damaging Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Ankrd7 T A 6: 18,868,071 (GRCm39) S112R probably benign Het
Arhgap23 T A 11: 97,382,058 (GRCm39) probably null Het
Atp4a G A 7: 30,415,344 (GRCm39) M321I probably benign Het
C2cd4d A T 3: 94,271,615 (GRCm39) R294W probably damaging Het
Carns1 T C 19: 4,220,875 (GRCm39) I352V probably benign Het
Cdh17 T A 4: 11,803,969 (GRCm39) S547R probably benign Het
Cdyl2 G T 8: 117,316,129 (GRCm39) N286K probably damaging Het
Fam186a C A 15: 99,840,584 (GRCm39) V1887L possibly damaging Het
Fat4 C T 3: 39,056,951 (GRCm39) R4216C probably damaging Het
Fcamr T C 1: 130,740,663 (GRCm39) W361R probably damaging Het
Helz2 G A 2: 180,874,831 (GRCm39) P1888S probably benign Het
Itih1 A T 14: 30,651,833 (GRCm39) F840L possibly damaging Het
Kansl2 T C 15: 98,429,312 (GRCm39) D146G probably benign Het
Kcnk18 T C 19: 59,223,746 (GRCm39) V297A probably damaging Het
Kif1a T C 1: 92,982,618 (GRCm39) T720A possibly damaging Het
Kl C G 5: 150,876,466 (GRCm39) F95L probably damaging Het
Large2 C T 2: 92,196,915 (GRCm39) R423K probably benign Het
Lgals3bp A G 11: 118,290,568 (GRCm39) V13A probably damaging Het
Lrrd1 A G 5: 3,900,837 (GRCm39) I381V probably benign Het
Mastl A T 2: 23,045,806 (GRCm39) I23N probably damaging Het
Mettl23 T C 11: 116,739,728 (GRCm39) V1A possibly damaging Het
Mindy2 A G 9: 70,538,363 (GRCm39) V324A probably damaging Het
Mtmr4 T A 11: 87,501,845 (GRCm39) L633Q probably damaging Het
Myh1 G A 11: 67,102,273 (GRCm39) E855K probably damaging Het
Nin C T 12: 70,066,006 (GRCm39) A2026T probably damaging Het
Nova2 G A 7: 18,691,794 (GRCm39) A244T unknown Het
Or2w1 A T 13: 21,317,463 (GRCm39) I173F probably benign Het
P2ry14 T A 3: 59,022,798 (GRCm39) R230W probably damaging Het
Pcsk4 T C 10: 80,162,073 (GRCm39) E83G probably damaging Het
Raet1e C A 10: 22,057,887 (GRCm39) T218N possibly damaging Het
Rsf1 GCGGCGGC GCGGCGGCGTCGGCGGC 7: 97,229,135 (GRCm39) probably benign Het
Safb G A 17: 56,909,956 (GRCm39) probably benign Het
Scn7a T A 2: 66,527,940 (GRCm39) N850I probably damaging Het
Slc16a4 A G 3: 107,208,381 (GRCm39) D297G possibly damaging Het
Tcf7l2 A T 19: 55,905,868 (GRCm39) K278* probably null Het
Tesmin T C 19: 3,439,260 (GRCm39) V104A possibly damaging Het
Tiam1 A G 16: 89,594,918 (GRCm39) probably null Het
Tmc4 T C 7: 3,670,526 (GRCm39) T522A probably damaging Het
Tmprss3 T A 17: 31,408,141 (GRCm39) I274F possibly damaging Het
Topbp1 A G 9: 103,210,189 (GRCm39) K916E probably damaging Het
Trdv1 A G 14: 54,119,513 (GRCm39) D58G probably benign Het
Ube2g2 G T 10: 77,458,139 (GRCm39) probably benign Het
Unc5d G T 8: 29,165,335 (GRCm39) Q747K possibly damaging Het
Xpo6 A G 7: 125,709,124 (GRCm39) V819A possibly damaging Het
Zan T A 5: 137,412,559 (GRCm39) probably benign Het
Zfp317 T A 9: 19,558,184 (GRCm39) W133R probably benign Het
Other mutations in Otulin
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02121:Otulin APN 15 27,608,823 (GRCm39) missense probably damaging 1.00
R0265:Otulin UTSW 15 27,616,510 (GRCm39) missense probably damaging 1.00
R0363:Otulin UTSW 15 27,606,381 (GRCm39) missense probably damaging 1.00
R0508:Otulin UTSW 15 27,608,944 (GRCm39) missense possibly damaging 0.93
R2915:Otulin UTSW 15 27,619,716 (GRCm39) splice site probably benign
R7099:Otulin UTSW 15 27,608,832 (GRCm39) missense probably damaging 1.00
R7145:Otulin UTSW 15 27,608,856 (GRCm39) missense probably damaging 1.00
R7904:Otulin UTSW 15 27,630,580 (GRCm39) missense probably benign 0.37
R8111:Otulin UTSW 15 27,606,381 (GRCm39) missense probably damaging 1.00
R8319:Otulin UTSW 15 27,606,404 (GRCm39) frame shift probably null
R8731:Otulin UTSW 15 27,608,928 (GRCm39) missense probably benign 0.44
R9562:Otulin UTSW 15 27,608,812 (GRCm39) missense probably damaging 1.00
X0013:Otulin UTSW 15 27,606,520 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TTAGAACACTGAATCTGCTGGG -3'
(R):5'- AGCCTTCTCTGTGGCTATGC -3'

Sequencing Primer
(F):5'- ACTGAATCTGCTGGGACAAC -3'
(R):5'- GCTTTGAGATTGTGACTTCCATATTC -3'
Posted On 2017-07-14