Incidental Mutation 'R8319:Otulin'
ID 641880
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 067856-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8319 (G1)
Quality Score 217.468
Status Not validated
Chromosome 15
Chromosomal Location 27606005-27630793 bp(-) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) AT to ATT at 27606404 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000057893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059662]
AlphaFold Q3UCV8
Predicted Effect probably null
Transcript: ENSMUST00000059662
SMART Domains Protein: ENSMUSP00000057893
Gene: ENSMUSG00000046034

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik A T 13: 59,838,486 (GRCm39) D115E probably benign Het
Abcc1 T A 16: 14,214,315 (GRCm39) L197Q probably damaging Het
Adamts14 T G 10: 61,057,706 (GRCm39) N547T probably benign Het
Ampd3 T A 7: 110,394,982 (GRCm39) S301R probably benign Het
Atg9a G A 1: 75,162,342 (GRCm39) Q523* probably null Het
Atl1 A T 12: 70,002,093 (GRCm39) T351S probably damaging Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Cacna1c T C 6: 118,614,735 (GRCm39) I1315V Het
Col12a1 C T 9: 79,555,979 (GRCm39) G2013R probably damaging Het
Cpne2 A G 8: 95,280,040 (GRCm39) D153G probably benign Het
Cryzl1 T C 16: 91,489,251 (GRCm39) S205G probably benign Het
Cux1 C T 5: 136,594,251 (GRCm39) A5T probably benign Het
Ddx60 T C 8: 62,395,669 (GRCm39) probably null Het
Dnajc13 G A 9: 104,067,590 (GRCm39) P1190S probably benign Het
Fbxw7 T A 3: 84,881,859 (GRCm39) V526E Het
Fig4 C A 10: 41,139,097 (GRCm39) G369C probably damaging Het
Gabra1 C T 11: 42,026,315 (GRCm39) A326T probably damaging Het
Gbe1 G A 16: 70,284,964 (GRCm39) G429S probably benign Het
Gtf3c5 A T 2: 28,460,506 (GRCm39) H364Q probably benign Het
Hcfc2 T A 10: 82,574,201 (GRCm39) I125N probably damaging Het
Hnrnpul1 A T 7: 25,453,902 (GRCm39) D53E probably benign Het
Ift56 T A 6: 38,382,880 (GRCm39) H338Q probably damaging Het
Il18 A T 9: 50,492,818 (GRCm39) D128V possibly damaging Het
Intu T A 3: 40,608,202 (GRCm39) S71R probably damaging Het
Klhl6 T C 16: 19,775,940 (GRCm39) E206G possibly damaging Het
Lcor T A 19: 41,571,343 (GRCm39) S179T probably damaging Het
Mcub A G 3: 129,727,328 (GRCm39) F93L probably damaging Het
Mdga2 T C 12: 67,267,803 (GRCm39) Y5C unknown Het
Naip1 C A 13: 100,565,721 (GRCm39) V354L probably benign Het
Naip5 A G 13: 100,358,167 (GRCm39) V1023A probably benign Het
Ndufaf1 A G 2: 119,490,568 (GRCm39) L166P probably damaging Het
Ninl A T 2: 150,801,827 (GRCm39) L147H probably damaging Het
Or4c12 A G 2: 89,774,024 (GRCm39) V145A possibly damaging Het
Or51b17 A G 7: 103,542,636 (GRCm39) I102T probably damaging Het
Otogl C T 10: 107,689,127 (GRCm39) probably null Het
Phf11b A C 14: 59,576,146 (GRCm39) L30R probably damaging Het
Prdm13 G T 4: 21,679,327 (GRCm39) H388N unknown Het
Pwwp2b T C 7: 138,835,099 (GRCm39) V180A probably damaging Het
Reep4 T A 14: 70,783,951 (GRCm39) S23T probably damaging Het
Rusc2 T A 4: 43,425,378 (GRCm39) L1161Q probably damaging Het
Scgb1b3 G A 7: 31,075,404 (GRCm39) probably null Het
Scn10a G T 9: 119,499,455 (GRCm39) N279K probably benign Het
Smurf2 A G 11: 106,715,578 (GRCm39) L643S probably damaging Het
Sox12 G A 2: 152,239,192 (GRCm39) P143S unknown Het
Specc1 C T 11: 62,009,501 (GRCm39) T339I possibly damaging Het
Tas2r139 T C 6: 42,118,720 (GRCm39) V284A probably benign Het
Thumpd3 T A 6: 113,040,107 (GRCm39) C330* probably null Het
Ttn A G 2: 76,537,298 (GRCm39) S34877P possibly damaging Het
Zfp568 T C 7: 29,697,629 (GRCm39) S104P possibly damaging Het
Zfp933 G A 4: 147,912,910 (GRCm39) H50Y possibly damaging 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
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
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'- GTGAAGGCTTGGCTAATTAATTCTC -3'
(R):5'- TGGCTTCCCTCAGAACACTC -3'

Sequencing Primer
(F):5'- GCTAGTCTTCAGAACATAATGGTCC -3'
(R):5'- GGCTTCCCTCAGAACACTCATTTG -3'
Posted On 2020-07-28