Incidental Mutation 'R6990:Uchl1'
ID 543192
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 045096-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6990 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 66833464-66844577 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 66839818 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 120 (E120G)
Ref Sequence ENSEMBL: ENSMUSP00000031131 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031131]
AlphaFold Q9R0P9
Predicted Effect possibly damaging
Transcript: ENSMUST00000031131
AA Change: E120G

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000031131
Gene: ENSMUSG00000029223
AA Change: E120G

DomainStartEndE-ValueType
Pfam:Peptidase_C12 3 206 3e-61 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T G 10: 78,902,925 (GRCm39) T464P probably damaging Het
Abca16 A G 7: 120,126,950 (GRCm39) I1214V probably benign Het
Arap2 A G 5: 62,833,860 (GRCm39) F869S probably damaging Het
Astn2 G T 4: 65,910,540 (GRCm39) H431N possibly damaging Het
Bap1 A G 14: 30,977,608 (GRCm39) T308A probably benign Het
Bcr G A 10: 74,966,868 (GRCm39) E492K possibly damaging Het
Bltp3b A G 10: 89,641,979 (GRCm39) D1050G probably benign Het
Camta1 A G 4: 151,229,501 (GRCm39) F444L probably damaging Het
Chd7 A T 4: 8,844,525 (GRCm39) T1545S probably benign Het
Dnmt1 A T 9: 20,827,110 (GRCm39) Y877* probably null Het
Fam13b A G 18: 34,630,500 (GRCm39) V86A possibly damaging Het
Gm11562 T A 11: 99,510,817 (GRCm39) R128W unknown Het
Krt86 A G 15: 101,371,714 (GRCm39) I95V probably benign Het
Mroh2b A G 15: 4,942,284 (GRCm39) T349A possibly damaging Het
Ms4a7 A T 19: 11,310,605 (GRCm39) L38Q probably damaging Het
Myo1h T C 5: 114,468,221 (GRCm39) S339P probably damaging Het
Nf2 T C 11: 4,749,944 (GRCm39) I46V probably benign Het
Nr1h4 T C 10: 89,290,792 (GRCm39) D416G probably benign Het
Oga G A 19: 45,755,915 (GRCm39) A576V probably benign Het
Or11l3 T C 11: 58,516,284 (GRCm39) E196G probably damaging Het
Or4p18 A G 2: 88,232,639 (GRCm39) M213T probably benign Het
Pde1c C G 6: 56,419,020 (GRCm39) E87Q possibly damaging Het
Peg10 T TCCA 6: 4,756,451 (GRCm39) probably benign Het
Pga5 A T 19: 10,646,779 (GRCm39) D317E probably benign Het
Pira2 T A 7: 3,844,067 (GRCm39) K568N probably damaging Het
Ppp2cb A G 8: 34,109,161 (GRCm39) D290G probably benign Het
Sall4 T C 2: 168,596,990 (GRCm39) K617E probably damaging Het
Slc7a14 G A 3: 31,277,728 (GRCm39) P626S possibly damaging Het
Speer4b A T 5: 27,702,076 (GRCm39) L228* probably null Het
Spns2 T C 11: 72,380,447 (GRCm39) T59A probably benign Het
Tbc1d5 A T 17: 51,275,260 (GRCm39) N78K probably benign Het
Tmem63a T C 1: 180,788,686 (GRCm39) V341A probably benign Het
Trpt1 A G 19: 6,975,683 (GRCm39) T146A probably benign Het
Tyrp1 T C 4: 80,753,674 (GRCm39) C122R probably damaging Het
Ucn3 C T 13: 3,991,295 (GRCm39) R119Q possibly damaging Het
Vmn2r2 T G 3: 64,024,608 (GRCm39) I658L probably benign Het
Vmn2r96 T A 17: 18,804,082 (GRCm39) V444E probably benign Het
Wdr54 A C 6: 83,132,629 (GRCm39) probably null Het
Xcr1 A G 9: 123,685,300 (GRCm39) L154P probably benign Het
Zbtb26 T C 2: 37,326,557 (GRCm39) K160E probably benign Het
Zfp157 T G 5: 138,454,772 (GRCm39) Y323* probably null Het
Zfp850 A T 7: 27,689,801 (GRCm39) F136I 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
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
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'- TGATTTCAGCAGCAGGGAG -3'
(R):5'- GTATTTACCCGACACTGGCC -3'

Sequencing Primer
(F):5'- AGCCGTTGGGAAGCTAGC -3'
(R):5'- CGACACTGGCCCTCCTG -3'
Posted On 2018-11-28