Incidental Mutation 'R1736:Uchl1'
Institutional Source Beutler Lab
Gene Symbol Uchl1
Ensembl Gene ENSMUSG00000029223
Gene Nameubiquitin carboxy-terminal hydrolase L1
SynonymsPGP 9.5, PGP9.5
MMRRC Submission 039768-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1736 (G1)
Quality Score225
Status Validated
Chromosomal Location66676091-66687234 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 66677074 bp
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000031131 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031131]
Predicted Effect probably null
Transcript: ENSMUST00000031131
SMART Domains Protein: ENSMUSP00000031131
Gene: ENSMUSG00000029223

Pfam:Peptidase_C12 3 206 3e-61 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152002
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176015
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177194
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177319
Meta Mutation Damage Score 0.9593 question?
Coding Region Coverage
  • 1x: 97.6%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 92.0%
Validation Efficiency 97% (57/59)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 G A 13: 70,779,518 probably benign Het
Adcy3 A G 12: 4,200,998 N586D possibly damaging Het
Ak6 T A 13: 100,655,181 probably null Het
Ankrd66 T C 17: 43,543,518 D41G probably benign Het
Atp8b2 G A 3: 89,952,694 P339S probably damaging Het
BC025446 G A 15: 75,217,720 G26R probably damaging Het
Cacna1d C T 14: 30,089,863 V1297I probably damaging Het
Cbl A T 9: 44,152,895 D781E possibly damaging Het
Cep295 C T 9: 15,340,883 E397K probably damaging Het
Ces4a G A 8: 105,138,097 G69S probably damaging Het
Clint1 A G 11: 45,906,177 probably null Het
Col6a3 A G 1: 90,779,059 Y2111H unknown Het
Csnk1g1 A G 9: 66,019,915 probably null Het
Dse A T 10: 34,153,149 N648K probably damaging Het
Dsp A G 13: 38,192,990 K1584E probably benign Het
Ezh2 A T 6: 47,576,660 M41K probably damaging Het
Fam71e2 A G 7: 4,758,154 S520P probably damaging Het
Fscn2 G A 11: 120,368,026 G466S probably damaging Het
Gm15217 A G 14: 46,383,206 probably benign Het
Gm9696 T C 3: 59,972,275 noncoding transcript Het
Gosr2 G A 11: 103,679,250 Q162* probably null Het
Hectd4 T A 5: 121,349,530 H3529Q possibly damaging Het
Klf7 C A 1: 64,079,213 R75L possibly damaging Het
Kmt2c A T 5: 25,290,527 I4074K probably damaging Het
Map3k11 A G 19: 5,697,401 D555G probably benign Het
Mindy2 A G 9: 70,631,030 I341T probably damaging Het
Mrnip G A 11: 50,176,891 probably null Het
Muc5b G A 7: 141,859,107 C1930Y unknown Het
Nfatc3 T G 8: 106,078,850 I109S probably damaging Het
Npas1 G T 7: 16,474,616 A112D probably benign Het
Npffr2 T A 5: 89,568,066 I84N probably damaging Het
Nxph4 T A 10: 127,526,596 H142L probably damaging Het
Otud4 T A 8: 79,651,665 probably benign Het
Per3 A G 4: 151,009,248 probably null Het
Pigr G A 1: 130,841,803 R117Q possibly damaging Het
Plec C T 15: 76,186,218 V931M probably damaging Het
Prex2 T A 1: 11,089,884 probably benign Het
Sall4 G A 2: 168,752,635 P420L probably benign Het
Sap30bp A G 11: 115,964,220 K252R probably damaging Het
Sec63 T A 10: 42,827,918 Y692* probably null Het
Sema3e C T 5: 14,210,376 T181M probably damaging Het
Sf3b3 T C 8: 110,813,832 I986V probably benign Het
Shisa4 A T 1: 135,371,962 Y194* probably null Het
Slc17a6 G A 7: 51,661,585 probably benign Het
Smg1 T G 7: 118,165,967 probably null Het
Smim7 C T 8: 72,571,005 G9R probably damaging Het
Spata31d1d C T 13: 59,726,497 G1075R probably benign Het
Sphkap G A 1: 83,277,515 R838* probably null Het
Stag3 T C 5: 138,304,509 probably benign Het
Tbce A G 13: 14,009,642 I217T possibly damaging Het
Tpk1 G A 6: 43,611,350 P27S probably benign Het
Tsc22d1 A G 14: 76,418,357 I2V probably benign Het
Tulp4 T G 17: 6,233,215 V1173G possibly damaging Het
Ugt2b38 T A 5: 87,423,633 Q180L probably benign Het
Other mutations in Uchl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02179:Uchl1 APN 5 66676294 missense probably benign 0.24
IGL02186:Uchl1 APN 5 66677039 nonsense probably null
IGL03268:Uchl1 APN 5 66682481 missense probably benign 0.03
R0556:Uchl1 UTSW 5 66682481 missense probably benign 0.06
R1075:Uchl1 UTSW 5 66682465 missense probably damaging 1.00
R2516:Uchl1 UTSW 5 66682613 missense probably damaging 1.00
R4888:Uchl1 UTSW 5 66676437 missense probably benign 0.32
R5121:Uchl1 UTSW 5 66676437 missense probably benign 0.32
R5569:Uchl1 UTSW 5 66686873 missense probably damaging 0.99
R5788:Uchl1 UTSW 5 66676411 intron probably benign
R6881:Uchl1 UTSW 5 66683722 missense probably damaging 0.99
R6990:Uchl1 UTSW 5 66682475 missense possibly damaging 0.86
Predicted Primers PCR Primer

Sequencing Primer
Posted On2014-05-23