Incidental Mutation 'R2849:Josd2'
ID251959
Institutional Source Beutler Lab
Gene Symbol Josd2
Ensembl Gene ENSMUSG00000038695
Gene NameJosephin domain containing 2
Synonyms1110007C05Rik
MMRRC Submission 040442-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.129) question?
Stock #R2849 (G1)
Quality Score171
Status Not validated
Chromosome7
Chromosomal Location44467980-44471662 bp(+) (GRCm38)
Type of Mutationsplice site (4 bp from exon)
DNA Base Change (assembly) A to G at 44468973 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146846 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035844] [ENSMUST00000035929] [ENSMUST00000117324] [ENSMUST00000118493] [ENSMUST00000118628] [ENSMUST00000120852] [ENSMUST00000121922] [ENSMUST00000134398] [ENSMUST00000135624] [ENSMUST00000136609] [ENSMUST00000136679] [ENSMUST00000146128] [ENSMUST00000152902] [ENSMUST00000156957] [ENSMUST00000206887] [ENSMUST00000208117]
Predicted Effect probably null
Transcript: ENSMUST00000035844
SMART Domains Protein: ENSMUSP00000048415
Gene: ENSMUSG00000038695

DomainStartEndE-ValueType
Josephin 18 176 1.47e-81 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000035929
SMART Domains Protein: ENSMUSP00000039202
Gene: ENSMUSG00000038704

DomainStartEndE-ValueType
Pfam:NAD_binding_3 17 128 3.8e-24 PFAM
Pfam:DUF108 174 265 2.9e-25 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000117324
SMART Domains Protein: ENSMUSP00000113313
Gene: ENSMUSG00000038695

DomainStartEndE-ValueType
Josephin 18 176 1.47e-81 SMART
Predicted Effect probably null
Transcript: ENSMUST00000118493
SMART Domains Protein: ENSMUSP00000113226
Gene: ENSMUSG00000038695

DomainStartEndE-ValueType
Josephin 18 176 1.47e-81 SMART
Predicted Effect probably null
Transcript: ENSMUST00000118628
SMART Domains Protein: ENSMUSP00000113172
Gene: ENSMUSG00000038695

DomainStartEndE-ValueType
Josephin 18 176 1.47e-81 SMART
Predicted Effect probably null
Transcript: ENSMUST00000120852
SMART Domains Protein: ENSMUSP00000114105
Gene: ENSMUSG00000038695

DomainStartEndE-ValueType
Josephin 18 176 1.47e-81 SMART
Predicted Effect probably null
Transcript: ENSMUST00000121922
SMART Domains Protein: ENSMUSP00000112796
Gene: ENSMUSG00000038695

DomainStartEndE-ValueType
Josephin 18 134 7e-33 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130220
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131817
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132952
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133656
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133801
Predicted Effect probably null
Transcript: ENSMUST00000134398
Predicted Effect probably benign
Transcript: ENSMUST00000135624
Predicted Effect probably benign
Transcript: ENSMUST00000136609
SMART Domains Protein: ENSMUSP00000123205
Gene: ENSMUSG00000038695

DomainStartEndE-ValueType
Josephin 18 97 7.71e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000136679
SMART Domains Protein: ENSMUSP00000114900
Gene: ENSMUSG00000038695

DomainStartEndE-ValueType
Pfam:Josephin 18 61 3.6e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139097
Predicted Effect probably benign
Transcript: ENSMUST00000146128
SMART Domains Protein: ENSMUSP00000119474
Gene: ENSMUSG00000038704

DomainStartEndE-ValueType
Pfam:NAD_binding_3 5 110 1e-19 PFAM
Pfam:DUF108 153 252 7.5e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149341
Predicted Effect probably benign
Transcript: ENSMUST00000152902
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155659
Predicted Effect probably benign
Transcript: ENSMUST00000156957
SMART Domains Protein: ENSMUSP00000121766
Gene: ENSMUSG00000038704

DomainStartEndE-ValueType
Pfam:DUF108 52 151 2.6e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184821
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206210
Predicted Effect probably null
Transcript: ENSMUST00000206887
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207591
Predicted Effect probably null
Transcript: ENSMUST00000208117
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing a Josephin domain. Josephin domain-containing proteins are deubiquitinating enzymes which catalyze the hydrolysis of the bond between the C-terminal glycine of the ubiquitin peptide and protein substrates. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 G C 17: 24,289,507 T1018R probably damaging Het
Abca8a T C 11: 110,042,105 D1231G probably damaging Het
Adcy7 A G 8: 88,327,393 I1017V probably benign Het
Agpat2 A G 2: 26,597,239 I109T probably damaging Het
Aldh9a1 G A 1: 167,352,628 R97H probably damaging Het
Als2 G A 1: 59,206,538 T593M probably damaging Het
Ap3d1 G C 10: 80,741,908 H28Q possibly damaging Het
Atxn1 A T 13: 45,566,699 D573E probably damaging Het
BC100530 T A 16: 36,367,452 Q17L probably damaging Het
Begain T A 12: 109,033,118 M576L probably benign Het
Bod1l T C 5: 41,838,076 N109S probably damaging Het
Boll A G 1: 55,346,373 M131T possibly damaging Het
Celf2 T C 2: 6,604,125 R282G probably damaging Het
Cers2 T C 3: 95,322,459 F330L probably benign Het
Chst13 T C 6: 90,309,158 D274G probably benign Het
Dclk2 A G 3: 86,793,223 V649A probably damaging Het
Deaf1 T C 7: 141,314,454 *54W probably null Het
Fbf1 C T 11: 116,157,688 probably null Het
Fbxo32 C T 15: 58,207,972 S71N probably benign Het
Fbxo42 T A 4: 141,200,510 N700K probably damaging Het
Fis1 T C 5: 136,963,117 I55T possibly damaging Het
Fyco1 A T 9: 123,834,826 L121* probably null Het
Gm2381 G A 7: 42,820,407 P98S probably damaging Het
Grm7 G T 6: 110,646,348 V161F probably damaging Het
Gtf2ird1 G A 5: 134,359,007 T946I probably damaging Het
Hmcn1 G T 1: 150,563,599 Y5494* probably null Het
Lfng T A 5: 140,611,867 D149E probably damaging Het
Lrp1 C T 10: 127,542,296 A4052T probably damaging Het
Lrrtm3 T C 10: 64,089,031 N119S probably damaging Het
Lypd6 C T 2: 50,165,652 P38L probably damaging Het
Msl3l2 T C 10: 56,115,442 C88R probably benign Het
Nsd1 A G 13: 55,213,692 T158A probably damaging Het
Nudt22 A T 19: 6,993,484 S239R probably benign Het
Odf3 A G 7: 140,849,269 T156A probably benign Het
Olfr1288 T C 2: 111,479,354 M190T probably benign Het
Olfr584 A T 7: 103,086,112 D193V probably damaging Het
Osbpl8 T A 10: 111,269,436 S251T probably benign Het
Otop3 T C 11: 115,344,558 F339L probably damaging Het
Pcdhga10 T A 18: 37,748,200 V338E possibly damaging Het
Pcnx2 A G 8: 125,760,927 F1779S probably damaging Het
Plxna4 T C 6: 32,185,532 K1349E probably damaging Het
Poteg A T 8: 27,481,676 N406I probably benign Het
Ppp4r4 T C 12: 103,606,933 V697A probably benign Het
Ptpra C A 2: 130,544,999 H603Q probably benign Het
Rnf10 T C 5: 115,249,112 D439G probably benign Het
Rnf43 T A 11: 87,732,267 N731K probably benign Het
Slc2a4 T A 11: 69,946,171 N116Y probably damaging Het
Slc6a15 C A 10: 103,404,691 H392N probably benign Het
Slco6d1 C T 1: 98,466,716 T375I probably benign Het
Smpd4 A G 16: 17,642,212 D436G probably damaging Het
Spata22 G A 11: 73,353,745 W311* probably null Het
Syt3 G A 7: 44,393,442 V383I probably benign Het
Tle6 T A 10: 81,594,401 I306F probably damaging Het
Tox3 G A 8: 90,248,390 Q538* probably null Het
Trim24 T A 6: 37,956,453 S656T probably damaging Het
Trnau1ap C A 4: 132,321,734 V119F possibly damaging Het
Vmn1r181 G T 7: 23,984,518 S136I possibly damaging Het
Vmn1r82 T C 7: 12,305,406 V202A probably damaging Het
Zfp607b G A 7: 27,702,394 V92I probably benign Het
Zfp964 G C 8: 69,663,854 C368S unknown Het
Zw10 A G 9: 49,057,641 probably null Het
Other mutations in Josd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00164:Josd2 APN 7 44471316 unclassified probably benign
IGL03029:Josd2 APN 7 44471177 missense probably damaging 0.98
R1376:Josd2 UTSW 7 44471115 missense probably damaging 1.00
R1376:Josd2 UTSW 7 44471115 missense probably damaging 1.00
R1782:Josd2 UTSW 7 44471153 missense probably damaging 1.00
R4739:Josd2 UTSW 7 44471254 missense probably damaging 1.00
R4944:Josd2 UTSW 7 44471168 missense probably damaging 1.00
R6492:Josd2 UTSW 7 44471154 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCGAATGAGCAAGATCCTAG -3'
(R):5'- AGGTTGTGACAGAGGCTCAG -3'

Sequencing Primer
(F):5'- TGAGCAAGATCCTAGGTGCCTAAC -3'
(R):5'- TTGTGACAGAGGCTCAGATAAG -3'
Posted On2014-12-04