Incidental Mutation 'R1736:Uchl1'
ID 199705
Institutional Source Beutler Lab
Gene Symbol Uchl1
Ensembl Gene ENSMUSG00000029223
Gene Name ubiquitin carboxy-terminal hydrolase L1
Synonyms PGP 9.5, PGP9.5
MMRRC Submission 039768-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1736 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 66833464-66844577 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 66834417 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000031131 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031131]
AlphaFold Q9R0P9
Predicted Effect probably null
Transcript: ENSMUST00000031131
SMART Domains Protein: ENSMUSP00000031131
Gene: ENSMUSG00000029223

DomainStartEndE-ValueType
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: 70,927,637 (GRCm39) probably benign Het
Adcy3 A G 12: 4,250,998 (GRCm39) N586D possibly damaging Het
Ak6 T A 13: 100,791,689 (GRCm39) probably null Het
Ankrd66 T C 17: 43,854,409 (GRCm39) D41G probably benign Het
Atp8b2 G A 3: 89,860,001 (GRCm39) P339S probably damaging Het
Cacna1d C T 14: 29,811,820 (GRCm39) V1297I probably damaging Het
Cbl A T 9: 44,064,192 (GRCm39) D781E possibly damaging Het
Cep295 C T 9: 15,252,179 (GRCm39) E397K probably damaging Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Clint1 A G 11: 45,797,004 (GRCm39) probably null Het
Col6a3 A G 1: 90,706,781 (GRCm39) Y2111H unknown Het
Csnk1g1 A G 9: 65,927,197 (GRCm39) probably null Het
Dse A T 10: 34,029,145 (GRCm39) N648K probably damaging Het
Dsp A G 13: 38,376,966 (GRCm39) K1584E probably benign Het
Ezh2 A T 6: 47,553,594 (GRCm39) M41K probably damaging Het
Fscn2 G A 11: 120,258,852 (GRCm39) G466S probably damaging Het
Garin5b A G 7: 4,761,153 (GRCm39) S520P probably damaging Het
Gm15217 A G 14: 46,620,663 (GRCm39) probably benign Het
Gm9696 T C 3: 59,879,696 (GRCm39) noncoding transcript Het
Gosr2 G A 11: 103,570,076 (GRCm39) Q162* probably null Het
Hectd4 T A 5: 121,487,593 (GRCm39) H3529Q possibly damaging Het
Klf7 C A 1: 64,118,372 (GRCm39) R75L possibly damaging Het
Kmt2c A T 5: 25,495,525 (GRCm39) I4074K probably damaging Het
Ly6g2 G A 15: 75,089,569 (GRCm39) G26R probably damaging Het
Map3k11 A G 19: 5,747,429 (GRCm39) D555G probably benign Het
Mindy2 A G 9: 70,538,312 (GRCm39) I341T probably damaging Het
Mrnip G A 11: 50,067,718 (GRCm39) probably null Het
Muc5b G A 7: 141,412,844 (GRCm39) C1930Y unknown Het
Nfatc3 T G 8: 106,805,482 (GRCm39) I109S probably damaging Het
Npas1 G T 7: 16,208,541 (GRCm39) A112D probably benign Het
Npffr2 T A 5: 89,715,925 (GRCm39) I84N probably damaging Het
Nxph4 T A 10: 127,362,465 (GRCm39) H142L probably damaging Het
Otud4 T A 8: 80,378,294 (GRCm39) probably benign Het
Per3 A G 4: 151,093,705 (GRCm39) probably null Het
Pigr G A 1: 130,769,540 (GRCm39) R117Q possibly damaging Het
Plec C T 15: 76,070,418 (GRCm39) V931M probably damaging Het
Prex2 T A 1: 11,160,108 (GRCm39) probably benign Het
Sall4 G A 2: 168,594,555 (GRCm39) P420L probably benign Het
Sap30bp A G 11: 115,855,046 (GRCm39) K252R probably damaging Het
Sec63 T A 10: 42,703,914 (GRCm39) Y692* probably null Het
Sema3e C T 5: 14,260,390 (GRCm39) T181M probably damaging Het
Sf3b3 T C 8: 111,540,464 (GRCm39) I986V probably benign Het
Shisa4 A T 1: 135,299,700 (GRCm39) Y194* probably null Het
Slc17a6 G A 7: 51,311,333 (GRCm39) probably benign Het
Smg1 T G 7: 117,765,190 (GRCm39) probably null Het
Smim7 C T 8: 73,324,849 (GRCm39) G9R probably damaging Het
Spata31d1d C T 13: 59,874,311 (GRCm39) G1075R probably benign Het
Sphkap G A 1: 83,255,236 (GRCm39) R838* probably null Het
Stag3 T C 5: 138,302,771 (GRCm39) probably benign Het
Tbce A G 13: 14,184,227 (GRCm39) I217T possibly damaging Het
Tpk1 G A 6: 43,588,284 (GRCm39) P27S probably benign Het
Tsc22d1 A G 14: 76,655,797 (GRCm39) I2V probably benign Het
Tulp4 T G 17: 6,283,490 (GRCm39) V1173G possibly damaging Het
Ugt2b38 T A 5: 87,571,492 (GRCm39) Q180L 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
IGL03268:Uchl1 APN 5 66,839,824 (GRCm39) missense probably benign 0.03
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
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
Predicted Primers PCR Primer
(F):5'- CCCTAGCAGGTGCCCATTATTTGTC -3'
(R):5'- TCATCCAGCCACAAGGTCAGAGAG -3'

Sequencing Primer
(F):5'- CCATTATTTGTCTGGCTTTTTCGG -3'
(R):5'- TCAGGGACCCTACAGGAAAA -3'
Posted On 2014-05-23