Incidental Mutation 'R8111:Otulin'
ID630895
Institutional Source Beutler Lab
Gene Symbol Otulin
Ensembl Gene ENSMUSG00000046034
Gene NameOTU deubiquitinase with linear linkage specificity
Synonymsm3Sapc, m7-1Sapc, Fam105b, gumby
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R8111 (G1)
Quality Score225.009
Status Not validated
Chromosome15
Chromosomal Location27542635-27630693 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 27606295 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glycine at position 344 (V344G)
Ref Sequence ENSEMBL: ENSMUSP00000057893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059662] [ENSMUST00000228179] [ENSMUST00000228439]
Predicted Effect probably damaging
Transcript: ENSMUST00000059662
AA Change: V344G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057893
Gene: ENSMUSG00000046034
AA Change: V344G

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: 99.7%
  • 10x: 98.7%
  • 20x: 93.2%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik C T 14: 32,660,309 W1233* probably null Het
4930590J08Rik A G 6: 91,917,710 I247V probably benign Het
8030423J24Rik T A 13: 70,883,958 C50S unknown Het
Adam29 T G 8: 55,871,550 H623P probably benign Het
Adamts5 A G 16: 85,899,315 V318A probably damaging Het
Ano3 T C 2: 110,783,713 D215G possibly damaging Het
Ap3b2 A G 7: 81,463,782 I893T unknown Het
Apob G A 12: 8,008,801 A2428T probably benign Het
Armc3 T C 2: 19,296,863 V660A probably benign Het
Atf7 G T 15: 102,563,334 T42K probably damaging Het
Atg9a A T 1: 75,187,722 I160N probably damaging Het
Atp2b1 T C 10: 98,996,924 V429A possibly damaging Het
Bpifb3 A C 2: 153,922,689 H167P probably benign Het
Cacna1f G T X: 7,621,087 E921D probably damaging Het
Ccdc57 T A 11: 120,878,887 L713F probably damaging Het
Chd1l C T 3: 97,587,210 E385K possibly damaging Het
Csmd1 C T 8: 15,917,306 V3186I probably benign Het
Dclre1c T A 2: 3,447,148 D349E probably benign Het
Dlg1 C T 16: 31,842,802 T657M possibly damaging Het
Dync2h1 T C 9: 7,148,688 I919V probably benign Het
Eml5 A G 12: 98,792,514 probably null Het
Epas1 C A 17: 86,818,432 S286* probably null Het
Fat1 G A 8: 45,026,058 V2714I possibly damaging Het
Fuca2 T C 10: 13,514,801 M447T probably benign Het
Gm10800 CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA CAAGAAAACTGAAAATCA 2: 98,667,016 probably null Het
Gm11110 A C 17: 57,103,427 C24G probably null Het
Gm6176 T A 7: 22,051,168 I113F probably benign Het
Gmcl1 G T 6: 86,721,426 A163E probably damaging Het
Gpat2 G T 2: 127,433,857 L518F probably damaging Het
Gpr137b T C 13: 13,359,406 Y355C probably damaging Het
Hgsnat C T 8: 25,968,412 V195I probably benign Het
Hivep3 T A 4: 120,098,386 S1300T probably damaging Het
Hs3st2 A T 7: 121,393,139 H137L probably damaging Het
Iffo1 T C 6: 125,145,818 S188P possibly damaging Het
Itih1 T C 14: 30,932,268 D684G probably damaging Het
Lrba C A 3: 86,327,705 N852K probably damaging Het
Lrriq4 T C 3: 30,655,781 S425P possibly damaging Het
Mdn1 T A 4: 32,674,003 S562T possibly damaging Het
Mex3a T C 3: 88,536,757 V380A probably benign Het
Mgat4d A T 8: 83,368,147 N271I probably damaging Het
Mmp24 T A 2: 155,807,425 V254E possibly damaging Het
Muc16 T A 9: 18,592,629 R6455S possibly damaging Het
Npffr1 T A 10: 61,623,349 V127E probably damaging Het
Obox5 T A 7: 15,758,616 N165K probably damaging Het
Olfr1513 G A 14: 52,349,887 T53M possibly damaging Het
Pappa A G 4: 65,261,992 D1030G probably damaging Het
Pdzd2 G A 15: 12,373,506 S2181L probably benign Het
Ppp2r3c C A 12: 55,297,849 M111I probably benign Het
Prss37 T C 6: 40,517,813 T13A probably benign Het
Sfi1 TCGC TC 11: 3,146,254 probably null Het
Sgo2b T A 8: 63,943,104 K39N probably damaging Het
Sike1 T C 3: 103,001,807 *208Q probably null Het
Spire1 A G 18: 67,519,321 S229P probably damaging Het
Tmem132b A G 5: 125,622,793 I132V probably benign Het
Umodl1 T C 17: 30,971,818 V213A probably damaging Het
Washc1 C G 17: 66,116,038 Q116E probably benign Het
Wdr34 C A 2: 30,031,847 A501S possibly damaging Het
Zfp553 T A 7: 127,236,921 C549* probably null Het
Zfp9 G A 6: 118,464,600 P367L probably damaging Het
Other mutations in Otulin
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02121:Otulin APN 15 27608737 missense probably damaging 1.00
R0265:Otulin UTSW 15 27616424 missense probably damaging 1.00
R0363:Otulin UTSW 15 27606295 missense probably damaging 1.00
R0508:Otulin UTSW 15 27608858 missense possibly damaging 0.93
R2915:Otulin UTSW 15 27619630 splice site probably benign
R6077:Otulin UTSW 15 27611610 missense probably benign 0.00
R7099:Otulin UTSW 15 27608746 missense probably damaging 1.00
R7145:Otulin UTSW 15 27608770 missense probably damaging 1.00
R7904:Otulin UTSW 15 27630494 missense probably benign 0.37
R8319:Otulin UTSW 15 27606318 frame shift probably null
X0013:Otulin UTSW 15 27606434 missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TTCCAAAGGCACGTGCTGAAG -3'
(R):5'- TTCCCAGGTTGAGATGTTCC -3'

Sequencing Primer
(F):5'- GTGAAGGCTTGGCTAATTAATTCTC -3'
(R):5'- CCCAGGTTGAGATGTTCCTTCTTG -3'
Posted On2020-06-30