Incidental Mutation 'R6881:Uchl1'
ID 536660
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 045030-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6881 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 66833464-66844577 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66841065 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 165 (F165L)
Ref Sequence ENSEMBL: ENSMUSP00000031131 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031131]
AlphaFold Q9R0P9
Predicted Effect probably damaging
Transcript: ENSMUST00000031131
AA Change: F165L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031131
Gene: ENSMUSG00000029223
AA Change: F165L

DomainStartEndE-ValueType
Pfam:Peptidase_C12 3 206 3e-61 PFAM
Meta Mutation Damage Score 0.1754 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 98% (53/54)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406C07Rik A C 9: 15,202,061 (GRCm39) C187G possibly damaging Het
Abhd16a C T 17: 35,315,577 (GRCm39) T208I probably benign Het
Ahcyl1 A T 3: 107,575,425 (GRCm39) H425Q probably damaging Het
Ankrd22 T A 19: 34,126,782 (GRCm39) N16I probably damaging Het
Cc2d2b A G 19: 40,813,483 (GRCm39) E1321G probably damaging Het
Ccdc7b A G 8: 129,799,028 (GRCm39) E35G probably damaging Het
Chsy3 A G 18: 59,312,480 (GRCm39) I318V probably damaging Het
Clrn2 G A 5: 45,611,164 (GRCm39) W4* probably null Het
Cmip T C 8: 118,163,334 (GRCm39) I355T possibly damaging Het
Cmya5 C T 13: 93,226,800 (GRCm39) V2763M probably damaging Het
Cnnm2 T C 19: 46,865,658 (GRCm39) S749P probably damaging Het
Cyp1a1 G T 9: 57,608,002 (GRCm39) R210L possibly damaging Het
Dmxl1 G A 18: 50,068,372 (GRCm39) S2715N probably benign Het
Dync1h1 T C 12: 110,590,995 (GRCm39) L1021P probably damaging Het
Ecm2 C T 13: 49,683,818 (GRCm39) Q599* probably null Het
Galnt11 G T 5: 25,455,097 (GRCm39) K144N possibly damaging Het
Gm45861 A G 8: 28,025,279 (GRCm39) probably null Het
Kcnk18 T A 19: 59,208,390 (GRCm39) D75E probably benign Het
Kcnk2 C T 1: 188,942,187 (GRCm39) V346M probably benign Het
Klhl33 T A 14: 51,128,929 (GRCm39) M767L probably benign Het
Knl1 T C 2: 118,925,665 (GRCm39) I1898T possibly damaging Het
Lama5 G A 2: 179,833,455 (GRCm39) P1519L probably damaging Het
Lamp3 T C 16: 19,518,368 (GRCm39) T290A probably benign Het
Larp1 T A 11: 57,940,849 (GRCm39) D658E probably damaging Het
Macf1 T A 4: 123,326,246 (GRCm39) I3521F probably damaging Het
Med12l T C 3: 59,174,586 (GRCm39) S1835P probably benign Het
Mef2c C A 13: 83,741,061 (GRCm39) N73K probably damaging Het
Mtmr3 T C 11: 4,439,725 (GRCm39) S572G probably benign Het
Neto2 A T 8: 86,367,185 (GRCm39) S520T probably damaging Het
Or10ak16 A G 4: 118,750,304 (GRCm39) N8S probably damaging Het
Or1o4 A G 17: 37,591,200 (GRCm39) L37S probably benign Het
Or4c110 A T 2: 88,832,281 (GRCm39) M117K probably damaging Het
P3h2 G A 16: 25,811,495 (GRCm39) R243C probably damaging Het
Pld1 T C 3: 28,132,563 (GRCm39) S584P possibly damaging Het
Prkcz T C 4: 155,353,513 (GRCm39) N278S possibly damaging Het
Radil A G 5: 142,472,672 (GRCm39) S913P probably benign Het
Retreg2 A C 1: 75,123,083 (GRCm39) Q337P probably damaging Het
Sh3gl3 A G 7: 81,956,178 (GRCm39) E305G possibly damaging Het
Shank1 G T 7: 44,001,217 (GRCm39) D979Y unknown Het
Slc35a5 A T 16: 44,964,443 (GRCm39) N263K possibly damaging Het
Slc4a7 A T 14: 14,737,452 (GRCm38) M127L probably benign Het
Slc8a2 G A 7: 15,891,282 (GRCm39) G774E probably damaging Het
Smim45 C A 15: 82,143,786 (GRCm39) H3N possibly damaging Het
Snap91 A G 9: 86,655,646 (GRCm39) S847P possibly damaging Het
Stoml1 T C 9: 58,168,177 (GRCm39) L296P probably damaging Het
Tap1 G T 17: 34,407,008 (GRCm39) G52V probably damaging Het
Tent4b T C 8: 88,977,416 (GRCm39) V363A possibly damaging Het
Tnfrsf11b T C 15: 54,117,539 (GRCm39) R239G probably benign Het
Ttn T C 2: 76,536,846 (GRCm39) Y34993C probably damaging Het
Xrcc1 C T 7: 24,246,776 (GRCm39) Q15* probably null Het
Zkscan7 C G 9: 122,717,766 (GRCm39) Q54E possibly damaging 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
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'- TGGAGCATATTCCTCTTGGAGAG -3'
(R):5'- CCCAAGGTTCTCAGTGGAATTC -3'

Sequencing Primer
(F):5'- GTATGTGCGTATCTGCACCACATG -3'
(R):5'- CACATTTCTGGCTTGATTTATGAAGC -3'
Posted On 2018-10-18