Incidental Mutation 'IGL03268:Uchl1'
ID 415146
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Uchl1
Ensembl Gene ENSMUSG00000029223
Gene Name ubiquitin carboxy-terminal hydrolase L1
Synonyms PGP 9.5, PGP9.5
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03268
Quality Score
Status
Chromosome 5
Chromosomal Location 66833464-66844577 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 66839824 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 122 (E122V)
Ref Sequence ENSEMBL: ENSMUSP00000031131 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031131]
AlphaFold Q9R0P9
Predicted Effect probably benign
Transcript: ENSMUST00000031131
AA Change: E122V

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000031131
Gene: ENSMUSG00000029223
AA Change: E122V

DomainStartEndE-ValueType
Pfam:Peptidase_C12 3 206 3e-61 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176015
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202339
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the peptidase C12 family. This enzyme is a thiol protease that hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin. This gene is specifically expressed in the neurons and in cells of the diffuse neuroendocrine system. Mutations in this gene may be associated with Parkinson disease.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for one allele show ataxia beginning at 80 days of age, followed by progressive tremors, impaired locomotion, atrophy of hind limb muscles, and death by 5-6 months. Mice homozygous for a second allele exhibit defects in motor coordinationand decreases in thermal pain sensation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500002C15Rik G T 4: 155,818,648 (GRCm39) probably benign Het
Acvrl1 A T 15: 101,033,803 (GRCm39) I162F possibly damaging Het
Adprhl1 A G 8: 13,296,170 (GRCm39) probably benign Het
Anapc7 G A 5: 122,567,669 (GRCm39) probably null Het
Ankrd13a T C 5: 114,930,296 (GRCm39) L227P probably damaging Het
Anxa5 T C 3: 36,504,828 (GRCm39) I245V probably benign Het
Arf1 A T 11: 59,103,663 (GRCm39) V123E possibly damaging Het
Catsperg1 G A 7: 28,899,668 (GRCm39) R338C probably damaging Het
Cc2d1a A C 8: 84,860,154 (GRCm39) L855R probably damaging Het
Cdh18 G A 15: 23,366,953 (GRCm39) A220T probably damaging Het
Cep350 T C 1: 155,829,295 (GRCm39) H203R probably benign Het
Cep78 G T 19: 15,951,806 (GRCm39) S333* probably null Het
Chrna2 T A 14: 66,388,395 (GRCm39) probably benign Het
Dact1 T C 12: 71,364,257 (GRCm39) V346A probably damaging Het
Dcn A G 10: 97,319,240 (GRCm39) I6V probably benign Het
Dlg3 A G X: 99,853,493 (GRCm39) Y600C probably damaging Het
Dmd A G X: 82,849,814 (GRCm39) E1084G probably damaging Het
Epb41 A C 4: 131,655,806 (GRCm39) D825E probably damaging Het
Galc T A 12: 98,188,852 (GRCm39) probably benign Het
Hmcn1 T A 1: 150,648,261 (GRCm39) D675V probably damaging Het
Igkv2-137 A G 6: 67,533,092 (GRCm39) D85G probably benign Het
Kxd1 A G 8: 70,961,136 (GRCm39) I78T probably damaging Het
Lama1 G A 17: 68,111,531 (GRCm39) G2261R probably damaging Het
Lama2 A T 10: 27,298,649 (GRCm39) I149N probably damaging Het
Mbnl2 G T 14: 120,616,569 (GRCm39) C61F probably damaging Het
Mcts1 T C X: 37,690,859 (GRCm39) I22T possibly damaging Het
Or4k15b T C 14: 50,272,024 (GRCm39) T279A probably damaging Het
Or52e3 T G 7: 102,869,848 (GRCm39) F308V probably benign Het
Pde12 T A 14: 26,389,614 (GRCm39) E365V probably benign Het
Prl8a2 A G 13: 27,537,938 (GRCm39) K204R probably benign Het
Rnf25 A T 1: 74,638,217 (GRCm39) probably benign Het
Rragb A G X: 151,923,493 (GRCm39) D5G unknown Het
Rsrc2 T A 5: 123,878,790 (GRCm39) K56* probably null Het
Scn5a T C 9: 119,350,297 (GRCm39) Q859R probably damaging Het
Septin4 G A 11: 87,480,529 (GRCm39) V388M probably damaging Het
Slc29a2 C T 19: 5,074,531 (GRCm39) probably benign Het
Slc30a5 G A 13: 100,943,211 (GRCm39) T549I probably damaging Het
Slc7a2 A G 8: 41,365,554 (GRCm39) T462A probably benign Het
Spsb2 A G 6: 124,786,450 (GRCm39) E61G probably damaging Het
Srr A G 11: 74,803,943 (GRCm39) Y5H probably benign Het
Suclg2 T C 6: 95,546,573 (GRCm39) D301G probably damaging Het
Syt14 A G 1: 192,669,142 (GRCm39) V37A probably benign Het
Syt9 A G 7: 107,035,612 (GRCm39) N210D probably benign Het
Tenm3 T C 8: 48,688,558 (GRCm39) D2343G probably damaging Het
Tma7 A G 9: 108,907,450 (GRCm39) probably benign Het
Tor3a T C 1: 156,497,020 (GRCm39) D175G probably damaging Het
Tpo G T 12: 30,144,964 (GRCm39) A595D possibly damaging Het
Tpst2 T C 5: 112,456,091 (GRCm39) V210A probably damaging Het
Vmn1r210 A T 13: 23,011,405 (GRCm39) F294I probably benign Het
Other mutations in Uchl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02179:Uchl1 APN 5 66,833,637 (GRCm39) missense probably benign 0.24
IGL02186:Uchl1 APN 5 66,834,382 (GRCm39) nonsense probably null
R0556:Uchl1 UTSW 5 66,839,824 (GRCm39) missense probably benign 0.06
R1075:Uchl1 UTSW 5 66,839,808 (GRCm39) missense probably damaging 1.00
R1736:Uchl1 UTSW 5 66,834,417 (GRCm39) critical splice donor site probably null
R2516:Uchl1 UTSW 5 66,839,956 (GRCm39) missense probably damaging 1.00
R4888:Uchl1 UTSW 5 66,833,780 (GRCm39) missense probably benign 0.32
R5121:Uchl1 UTSW 5 66,833,780 (GRCm39) missense probably benign 0.32
R5569:Uchl1 UTSW 5 66,844,216 (GRCm39) missense probably damaging 0.99
R5788:Uchl1 UTSW 5 66,833,754 (GRCm39) intron probably benign
R6881:Uchl1 UTSW 5 66,841,065 (GRCm39) missense probably damaging 0.99
R6990:Uchl1 UTSW 5 66,839,818 (GRCm39) missense possibly damaging 0.86
R8807:Uchl1 UTSW 5 66,833,601 (GRCm39) start gained probably benign
R9364:Uchl1 UTSW 5 66,833,649 (GRCm39) missense probably damaging 1.00
R9554:Uchl1 UTSW 5 66,833,649 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02