Incidental Mutation 'R2875:Uchl3'
ID 260524
Institutional Source Beutler Lab
Gene Symbol Uchl3
Ensembl Gene ENSMUSG00000022111
Gene Name ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)
Synonyms
MMRRC Submission 040463-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.555) question?
Stock # R2875 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 101891403-101933561 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101905996 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 153 (H153R)
Ref Sequence ENSEMBL: ENSMUSP00000002289 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002289]
AlphaFold Q9JKB1
Predicted Effect probably benign
Transcript: ENSMUST00000002289
AA Change: H153R

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000002289
Gene: ENSMUSG00000022111
AA Change: H153R

DomainStartEndE-ValueType
Pfam:Peptidase_C12 6 214 1.2e-68 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000226340
AA Change: H123R
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227815
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228773
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 100% (1/1)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l T A 8: 44,080,177 (GRCm39) K16* probably null Het
Adgb T G 10: 10,298,463 (GRCm39) T422P probably damaging Het
Adrm1 A G 2: 179,817,411 (GRCm39) T293A probably damaging Het
Baz1a A T 12: 54,969,904 (GRCm39) D585E probably damaging Het
Ccdc152 T C 15: 3,327,663 (GRCm39) N38S probably damaging Het
Cenpf A G 1: 189,390,841 (GRCm39) M997T probably benign Het
Dnah12 A G 14: 26,414,625 (GRCm39) I9V probably benign Het
Dnah12 A G 14: 26,598,907 (GRCm39) N995S probably benign Het
Dnah9 C A 11: 66,059,287 (GRCm39) G3C possibly damaging Het
Dock2 A G 11: 34,609,712 (GRCm39) S243P probably damaging Het
Eif2ak3 T C 6: 70,860,623 (GRCm39) S400P probably damaging Het
Eno1b A G 18: 48,180,851 (GRCm39) K343R possibly damaging Het
Grk6 A G 13: 55,600,117 (GRCm39) H271R probably damaging Het
H2-Ab1 A C 17: 34,482,286 (GRCm39) M1L probably benign Het
Irf8 C A 8: 121,481,202 (GRCm39) P262Q probably damaging Het
Kcnc3 G T 7: 44,240,961 (GRCm39) G218* probably null Het
Krt9 C A 11: 100,080,031 (GRCm39) G454* probably null Het
Mgrn1 C T 16: 4,725,280 (GRCm39) T47I possibly damaging Het
Ndst1 A T 18: 60,823,119 (GRCm39) F816I probably damaging Het
Or11g26 T A 14: 50,753,269 (GRCm39) W203R probably benign Het
Or5h25 A T 16: 58,930,165 (GRCm39) D269E probably benign Het
Phf12 C A 11: 77,900,573 (GRCm39) T223N probably damaging Het
Rad1 T C 15: 10,490,417 (GRCm39) V128A probably benign Het
Rad54l C T 4: 115,959,050 (GRCm39) R382Q probably benign Het
Rhbdd1 A G 1: 82,346,090 (GRCm39) D215G probably benign Het
Sdc4 T C 2: 164,273,211 (GRCm39) D33G possibly damaging Het
Smarca4 A T 9: 21,553,876 (GRCm39) K387N possibly damaging Het
St3gal5 A G 6: 72,124,114 (GRCm39) M214V possibly damaging Het
Stk25 T C 1: 93,556,973 (GRCm39) D15G possibly damaging Het
Timm21 T C 18: 84,969,217 (GRCm39) D69G probably benign Het
Ttll4 A G 1: 74,725,597 (GRCm39) probably null Het
Ttn T A 2: 76,589,438 (GRCm39) N21272I probably damaging Het
Zbed6 C T 1: 133,584,598 (GRCm39) C913Y probably damaging Het
Zcwpw1 T C 5: 137,808,304 (GRCm39) S251P probably damaging Het
Zeb1 GGA GGAAGA 18: 5,772,859 (GRCm39) probably benign Het
Zscan29 T C 2: 120,994,581 (GRCm39) Y468C probably damaging 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
R2213:Uchl3 UTSW 14 101,904,106 (GRCm39) critical splice donor site probably null
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'- ACAGTTCTGAAAGGTTTTGTGC -3'
(R):5'- TTAATGTAGCACGGTAGCAGC -3'

Sequencing Primer
(F):5'- GAAAGGTTTTGTGCTAAACTGCTCC -3'
(R):5'- GCAGCCTGGCAAAACATTTCATTTG -3'
Posted On 2015-01-23