Incidental Mutation 'R2213:Uchl3'
ID 239551
Institutional Source Beutler Lab
Gene Symbol Uchl3
Ensembl Gene ENSMUSG00000022111
Gene Name ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)
Synonyms
MMRRC Submission 040215-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.555) question?
Stock # R2213 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 101891403-101933561 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 101904106 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000002289]
AlphaFold Q9JKB1
Predicted Effect probably null
Transcript: ENSMUST00000002289
SMART Domains Protein: ENSMUSP00000002289
Gene: ENSMUSG00000022111

DomainStartEndE-ValueType
Pfam:Peptidase_C12 6 214 1.2e-68 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000226340
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227815
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228773
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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 is a member of the deubiquitinating enzyme family. Members of this family are proteases that catalyze the removal of ubiquitin from polypeptides and are divided into five classes, depending on the mechanism of catalysis. This protein may hydrolyze the ubiquitinyl-N-epsilon amide bond of ubiquitinated proteins to regenerate ubiquitin for another catalytic cycle. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]
PHENOTYPE: Homozygous null animals show degeneration in dorsal root ganglia. Mice display postnatal progressive retinal degeneration and muscular degeneration. In combination with a knockout of ubiquitin C-terminal hydrolase L1, neurological effects of each are accelerated, mice are dysphagic and die younger. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c12 T C 13: 4,326,247 (GRCm39) D78G probably damaging Het
Anxa1 C T 19: 20,360,239 (GRCm39) R124H probably damaging Het
Arhgef4 G A 1: 34,846,230 (GRCm39) probably null Het
C87436 G A 6: 86,422,455 (GRCm39) V10I probably benign Het
Ces1a G T 8: 93,751,853 (GRCm39) P427Q probably damaging Het
Cpm T C 10: 117,495,744 (GRCm39) Y78H probably damaging Het
Csmd3 G A 15: 47,683,843 (GRCm39) T1663I possibly damaging Het
Cul7 T C 17: 46,962,398 (GRCm39) F10L probably damaging Het
Cyp2j5 T C 4: 96,547,852 (GRCm39) N130S probably benign Het
Dclk1 G A 3: 55,387,854 (GRCm39) C100Y probably damaging Het
Ddb1 T C 19: 10,585,691 (GRCm39) L135P probably damaging Het
Dixdc1 A G 9: 50,613,245 (GRCm39) S211P probably benign Het
Dnah12 G T 14: 26,460,485 (GRCm39) K970N probably benign Het
Eps15 A G 4: 109,218,417 (GRCm39) K391E probably damaging Het
Fabp9 A G 3: 10,259,860 (GRCm39) V51A probably damaging Het
Flg T C 3: 93,200,335 (GRCm39) probably benign Het
Flnb AAGGAG AAG 14: 7,881,652 (GRCm38) probably benign Het
Fscb A T 12: 64,520,890 (GRCm39) I192N possibly damaging Het
Galntl5 A G 5: 25,422,527 (GRCm39) I333V probably benign Het
Gcnt3 A T 9: 69,941,989 (GRCm39) V193E probably benign Het
Gle1 T C 2: 29,839,313 (GRCm39) F535S probably damaging Het
Gpr87 A T 3: 59,086,465 (GRCm39) S347T probably damaging Het
Gstm2 C T 3: 107,893,409 (GRCm39) R18H probably damaging Het
H1f7 T A 15: 98,154,219 (GRCm39) Q310L unknown Het
Haus6 C T 4: 86,500,229 (GRCm39) E927K possibly damaging Het
Hunk A G 16: 90,229,505 (GRCm39) N122S probably damaging Het
Itih4 T A 14: 30,612,670 (GRCm39) V232E probably damaging Het
Jag1 G T 2: 136,931,812 (GRCm39) D586E probably benign Het
Klk1b1 T C 7: 43,619,905 (GRCm39) S155P probably damaging Het
Lama1 G T 17: 68,084,029 (GRCm39) G1424* probably null Het
Lrp1 T A 10: 127,376,571 (GRCm39) N4279I probably damaging Het
Lrrc43 G A 5: 123,641,640 (GRCm39) V525I possibly damaging Het
Lrrc4c G A 2: 97,460,816 (GRCm39) V481M probably benign Het
Mecr T A 4: 131,581,126 (GRCm39) probably null Het
Megf10 T A 18: 57,421,081 (GRCm39) Y906* probably null Het
Mpdz A G 4: 81,228,409 (GRCm39) F1319L probably damaging Het
Mtf2 A G 5: 108,248,780 (GRCm39) E364G possibly damaging Het
Nelfe T A 17: 35,072,859 (GRCm39) D160E probably benign Het
Nin A G 12: 70,092,128 (GRCm39) L727P probably damaging Het
Npat A G 9: 53,463,681 (GRCm39) T155A probably benign Het
Nup58 T C 14: 60,476,945 (GRCm39) D242G probably benign Het
Or4a78 A T 2: 89,497,891 (GRCm39) L113Q probably damaging Het
Pnlip T C 19: 58,662,202 (GRCm39) V116A probably benign Het
Prl7a2 T A 13: 27,849,051 (GRCm39) L79F probably benign Het
Rbm25 A T 12: 83,722,856 (GRCm39) I760L probably benign Het
Rbms3 A T 9: 116,788,534 (GRCm39) probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rps10 C A 17: 27,849,473 (GRCm39) probably benign Het
Slc35e4 T C 11: 3,863,159 (GRCm39) E10G possibly damaging Het
Smad2 A T 18: 76,437,697 (GRCm39) T434S probably damaging Het
Sox30 C T 11: 45,875,679 (GRCm39) S477F probably damaging Het
Speer4a3 G T 5: 26,158,175 (GRCm39) T59K probably benign Het
Stat4 A T 1: 52,053,014 (GRCm39) D65V probably damaging Het
Strip2 A G 6: 29,931,147 (GRCm39) D366G probably damaging Het
Syngap1 C A 17: 27,172,043 (GRCm39) R84S probably damaging Het
Synpo2l A G 14: 20,710,734 (GRCm39) Y629H probably damaging Het
Taf4 A T 2: 179,577,683 (GRCm39) probably null Het
Ttc21a A G 9: 119,769,527 (GRCm39) H68R probably benign Het
Txndc8 T A 4: 57,984,199 (GRCm39) Q144L probably benign Het
Tyr T G 7: 87,142,086 (GRCm39) Q158P probably damaging Het
Vwa5b1 T C 4: 138,332,123 (GRCm39) K298R probably benign Het
Wrn T C 8: 33,747,043 (GRCm39) N891S probably benign Het
Ylpm1 A G 12: 85,116,492 (GRCm39) S2125G probably benign Het
Other mutations in Uchl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
elohim UTSW 14 101,903,240 (GRCm39) missense probably damaging 0.97
R0507:Uchl3 UTSW 14 101,904,443 (GRCm39) nonsense probably null
R0992:Uchl3 UTSW 14 101,905,969 (GRCm39) missense probably benign 0.08
R1365:Uchl3 UTSW 14 101,891,528 (GRCm39) missense probably damaging 1.00
R2875:Uchl3 UTSW 14 101,905,996 (GRCm39) missense probably benign 0.02
R5027:Uchl3 UTSW 14 101,903,982 (GRCm39) missense possibly damaging 0.93
R5186:Uchl3 UTSW 14 101,933,353 (GRCm39) missense probably damaging 1.00
R6737:Uchl3 UTSW 14 101,928,033 (GRCm39) missense probably damaging 0.99
R7039:Uchl3 UTSW 14 101,923,128 (GRCm39) intron probably benign
R8308:Uchl3 UTSW 14 101,932,655 (GRCm39) critical splice donor site probably null
R9020:Uchl3 UTSW 14 101,903,986 (GRCm39) missense probably damaging 0.99
R9274:Uchl3 UTSW 14 101,903,240 (GRCm39) missense probably damaging 0.97
R9275:Uchl3 UTSW 14 101,905,963 (GRCm39) critical splice acceptor site probably null
R9464:Uchl3 UTSW 14 101,904,451 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCTTAGGTTAGGCTGCACC -3'
(R):5'- TCCTGTTCATCACCAATATGAAGG -3'

Sequencing Primer
(F):5'- ACAAACTTGTCTTGTTCAGTGTG -3'
(R):5'- GGATGAGAAGGACTTATTTCTCTCCC -3'
Posted On 2014-10-15