Incidental Mutation 'IGL02186:Uchl1'
ID283639
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Uchl1
Ensembl Gene ENSMUSG00000029223
Gene Nameubiquitin carboxy-terminal hydrolase L1
SynonymsPGP 9.5, PGP9.5
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02186
Quality Score
Status
Chromosome5
Chromosomal Location66676091-66687234 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 66677039 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 47 (C47*)
Ref Sequence ENSEMBL: ENSMUSP00000031131 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031131]
Predicted Effect probably null
Transcript: ENSMUST00000031131
AA Change: C47*
SMART Domains Protein: ENSMUSP00000031131
Gene: ENSMUSG00000029223
AA Change: C47*

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
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130230L23Rik A G 5: 65,988,468 F100S unknown Het
Abca3 A G 17: 24,377,740 Y389C possibly damaging Het
Acrbp G T 6: 125,054,810 probably null Het
Adam21 G A 12: 81,559,209 T593I possibly damaging Het
Adipor1 T A 1: 134,425,960 M161K probably benign Het
Agrp A T 8: 105,567,189 N48K probably benign Het
Asprv1 A T 6: 86,628,918 M249L probably damaging Het
Begain A G 12: 109,033,352 Y703H probably damaging Het
Bspry T A 4: 62,495,989 probably benign Het
Cct8l1 T G 5: 25,516,838 S184A probably benign Het
Cdk13 C T 13: 17,772,527 V549I probably benign Het
Cdyl2 C T 8: 116,579,286 R412Q possibly damaging Het
Celf6 T C 9: 59,603,525 S205P probably damaging Het
Cltc G A 11: 86,704,985 A1263V possibly damaging Het
Cltc C A 11: 86,704,986 A1263S possibly damaging Het
Ctnnd2 T A 15: 30,480,793 F62L probably damaging Het
Dlec1 T A 9: 119,143,627 C1473S probably benign Het
Dmbt1 T A 7: 131,093,256 probably benign Het
Dnase1 G A 16: 4,039,032 V176I probably benign Het
Dusp1 G T 17: 26,507,058 Y220* probably null Het
Enpp3 A C 10: 24,791,983 probably benign Het
Exosc10 T C 4: 148,565,298 L395P probably damaging Het
Fn1 T C 1: 71,638,534 K533R probably damaging Het
Gcm2 T A 13: 41,104,649 T168S possibly damaging Het
Gm9924 C A 5: 31,095,147 probably benign Het
Ifrd1 A G 12: 40,214,093 V101A probably benign Het
Iqsec1 G T 6: 90,676,877 Q629K probably damaging Het
Kcnma1 T A 14: 23,526,813 M254L probably benign Het
Krit1 T C 5: 3,809,733 probably benign Het
Letm1 T C 5: 33,745,047 K633E probably benign Het
Mfsd1 A G 3: 67,596,595 I307V probably benign Het
Mtrr T C 13: 68,564,357 T637A probably benign Het
Naxe C A 3: 88,056,998 D212Y probably damaging Het
Nlk A T 11: 78,586,936 V327D probably damaging Het
Olfr1131 A T 2: 87,629,371 I187F probably benign Het
Olfr38 A G 6: 42,762,946 K298R probably null Het
Pdzd8 C T 19: 59,300,628 G780D probably damaging Het
Prune1 T C 3: 95,259,237 probably benign Het
Qser1 A T 2: 104,788,261 H645Q probably damaging Het
Rd3l A G 12: 111,979,467 Y193H probably benign Het
Reln A G 5: 21,909,958 Y3119H probably damaging Het
Scel C T 14: 103,564,821 A219V probably benign Het
Skint11 A T 4: 114,244,636 Q91L possibly damaging Het
Slc39a10 G A 1: 46,818,128 A696V probably damaging Het
Slc5a5 C A 8: 70,886,120 D516Y possibly damaging Het
Slc8b1 G A 5: 120,527,863 probably null Het
Slc9a3 A G 13: 74,163,114 E576G possibly damaging Het
Slco1b2 A T 6: 141,634,545 probably benign Het
Smc5 A G 19: 23,231,859 V647A probably damaging Het
Snph T C 2: 151,594,343 N222D possibly damaging Het
Srbd1 A G 17: 86,109,231 F500L probably benign Het
Stxbp6 T C 12: 44,902,023 D101G probably damaging Het
Taar7b A G 10: 23,999,981 I15V probably benign Het
Tdrd12 G T 7: 35,501,401 N338K probably damaging Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Tmem219 A T 7: 126,896,816 D128E probably benign Het
Togaram2 A G 17: 71,685,171 T3A possibly damaging Het
Ttn C T 2: 76,894,283 probably benign Het
Unc79 T G 12: 103,011,283 S182A probably benign Het
Vmn2r1 A G 3: 64,081,717 T26A probably benign Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Vps54 T C 11: 21,306,947 V685A probably damaging Het
Zcchc7 T G 4: 44,762,250 V126G possibly damaging Het
Zmym2 A G 14: 56,943,351 T907A probably benign Het
Other mutations in Uchl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02179:Uchl1 APN 5 66676294 missense probably benign 0.24
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
R1736:Uchl1 UTSW 5 66677074 critical splice donor site probably null
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
Posted On2015-04-16