Incidental Mutation 'R7904:Otulin'
ID 610187
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 045956-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7904 (G1)
Quality Score 93.0077
Status Not validated
Chromosome 15
Chromosomal Location 27606005-27630793 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 27630580 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 39 (A39E)
Ref Sequence ENSEMBL: ENSMUSP00000057893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059662] [ENSMUST00000228439]
AlphaFold Q3UCV8
Predicted Effect probably benign
Transcript: ENSMUST00000059662
AA Change: A39E

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000057893
Gene: ENSMUSG00000046034
AA Change: A39E

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 possibly damaging
Transcript: ENSMUST00000228439
AA Change: A39E

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 97% (72/74)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam8 G A 7: 139,567,591 (GRCm39) T384I probably benign Het
Astn1 T C 1: 158,424,886 (GRCm39) F691L probably benign Het
Azgp1 A G 5: 137,985,869 (GRCm39) E164G probably damaging Het
Bdp1 A G 13: 100,177,944 (GRCm39) V1975A probably benign Het
Cactin T C 10: 81,161,699 (GRCm39) Y744H possibly damaging Het
Clstn1 T A 4: 149,698,594 (GRCm39) I60N probably benign Het
Col16a1 T A 4: 129,948,001 (GRCm39) C240* probably null Het
Col6a5 T C 9: 105,805,720 (GRCm39) D1062G unknown Het
Csmd2 T C 4: 128,313,346 (GRCm39) L1341P Het
Cyp51 A T 5: 4,150,173 (GRCm39) F183L probably damaging Het
Dbnl T A 11: 5,741,779 (GRCm39) probably null Het
Ddx60 G A 8: 62,430,924 (GRCm39) V820I possibly damaging Het
Dnaaf9 A T 2: 130,633,923 (GRCm39) probably null Het
Dnah11 T A 12: 117,867,003 (GRCm39) D4046V possibly damaging Het
Dnah6 G A 6: 73,112,450 (GRCm39) probably null Het
Dnttip1 A G 2: 164,589,472 (GRCm39) Y89C probably benign Het
Efr3a T A 15: 65,696,527 (GRCm39) V144E probably damaging Het
Epha8 T C 4: 136,659,050 (GRCm39) Q868R possibly damaging Het
Ercc5 G T 1: 44,214,998 (GRCm39) probably null Het
Fam118a A G 15: 84,929,834 (GRCm39) S21G probably damaging Het
Fam171b T C 2: 83,683,849 (GRCm39) I122T probably damaging Het
Fat4 T A 3: 38,941,690 (GRCm39) S194R probably damaging Het
Fcho2 T A 13: 98,932,871 (GRCm39) T44S possibly damaging Het
Gm21698 C A 5: 26,189,256 (GRCm39) L232F probably benign Het
Gpr149 T A 3: 62,502,356 (GRCm39) D500V probably benign Het
Gpx8 T A 13: 113,182,035 (GRCm39) T133S probably benign Het
Hdlbp A T 1: 93,351,092 (GRCm39) I542N probably damaging Het
Hid1 G A 11: 115,246,187 (GRCm39) S361F probably damaging Het
Igdcc4 C A 9: 65,041,801 (GRCm39) A1076E probably benign Het
Il4ra A G 7: 125,164,845 (GRCm39) K7E probably benign Het
Inka2 T C 3: 105,623,730 (GRCm39) C35R probably damaging Het
Itga9 G T 9: 118,706,294 (GRCm39) probably null Het
Kif5c T C 2: 49,591,095 (GRCm39) S316P probably damaging Het
Kmt5c A T 7: 4,749,158 (GRCm39) T264S probably damaging Het
Litafd A G 16: 8,501,681 (GRCm39) H61R Het
Lrrc18 A G 14: 32,731,052 (GRCm39) N197S probably benign Het
Mcoln1 C A 8: 3,558,356 (GRCm39) D203E probably benign Het
Mitf T C 6: 97,990,671 (GRCm39) V358A probably damaging Het
Mki67 A T 7: 135,294,816 (GRCm39) L3161Q possibly damaging Het
Mmp20 T A 9: 7,644,076 (GRCm39) F255I possibly damaging Het
Muc16 T C 9: 18,566,946 (GRCm39) T1858A unknown Het
Mug1 G A 6: 121,828,424 (GRCm39) V279I probably benign Het
Or6c68 T C 10: 129,157,665 (GRCm39) Y58H probably damaging Het
Pcdh17 A T 14: 84,685,924 (GRCm39) D797V possibly damaging Het
Pdlim5 G A 3: 142,018,154 (GRCm39) S147L probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Ppp2r1a T G 17: 21,182,003 (GRCm39) probably null Het
Ranbp6 T C 19: 29,789,813 (GRCm39) I180V probably benign Het
Rbm27 G T 18: 42,465,921 (GRCm39) R869L probably damaging Het
Rtn4r A G 16: 17,969,349 (GRCm39) D259G probably benign Het
Ryr3 T C 2: 112,611,369 (GRCm39) E2271G probably damaging Het
Sbk1 A G 7: 125,891,208 (GRCm39) Y214C probably damaging Het
Scg3 C T 9: 75,551,149 (GRCm39) E459K probably damaging Het
Scin T G 12: 40,126,999 (GRCm39) E449D probably damaging Het
Sel1l3 T C 5: 53,297,166 (GRCm39) K760R probably benign Het
Sh3pxd2a A G 19: 47,308,753 (GRCm39) L145S possibly damaging Het
Sh3yl1 A G 12: 30,991,995 (GRCm39) D188G probably benign Het
Slc38a1 A T 15: 96,521,921 (GRCm39) L13Q possibly damaging Het
Smyd4 T C 11: 75,240,613 (GRCm39) I36T possibly damaging Het
Spata31f1a A G 4: 42,850,765 (GRCm39) S464P possibly damaging Het
Stab2 A T 10: 86,790,056 (GRCm39) L570* probably null Het
Tg G T 15: 66,577,128 (GRCm39) A1484S probably benign Het
Tm7sf2 A T 19: 6,118,942 (GRCm39) N677K probably damaging Het
Tmem235 T G 11: 117,751,717 (GRCm39) L47R probably damaging Het
Tmem87a A G 2: 120,210,198 (GRCm39) S252P probably damaging Het
Unc13b A G 4: 43,217,075 (GRCm39) D458G probably benign Het
Wfdc1 A G 8: 120,406,770 (GRCm39) probably null Het
Wnt16 A G 6: 22,297,989 (GRCm39) Y285C probably damaging Het
Wwc2 A T 8: 48,309,270 (GRCm39) N837K unknown Het
Xdh A G 17: 74,229,467 (GRCm39) F329L probably benign Het
Yaf2 G T 15: 93,183,466 (GRCm39) H115N probably benign Het
Zbtb16 G T 9: 48,744,272 (GRCm39) N13K probably damaging Het
Zfhx3 A T 8: 109,677,695 (GRCm39) D2915V probably damaging Het
Zfp236 A T 18: 82,627,507 (GRCm39) V1564E possibly damaging Het
Zfp407 G T 18: 84,579,381 (GRCm39) H577Q not run 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
R6077:Otulin UTSW 15 27,611,696 (GRCm39) missense probably benign 0.00
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
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'- ATTGGACAGTTGTCAAAGCGGG -3'
(R):5'- CACAGTGACGCTTACGGAAG -3'

Sequencing Primer
(F):5'- CAGTTGTCAAAGCGGGAGTGTG -3'
(R):5'- TTACGGAAGCGCTCTGC -3'
Posted On 2019-12-20