Incidental Mutation 'R4534:Uchl5'
ID 333224
Institutional Source Beutler Lab
Gene Symbol Uchl5
Ensembl Gene ENSMUSG00000018189
Gene Name ubiquitin carboxyl-terminal esterase L5
Synonyms Uch37, 5830413B11Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4534 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 143653010-143683204 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 143661954 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 76 (T76I)
Ref Sequence ENSEMBL: ENSMUSP00000139668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018333] [ENSMUST00000185493] [ENSMUST00000189936]
AlphaFold Q9WUP7
Predicted Effect probably benign
Transcript: ENSMUST00000018333
AA Change: T76I

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000018333
Gene: ENSMUSG00000018189
AA Change: T76I

DomainStartEndE-ValueType
Pfam:Peptidase_C12 8 209 3.7e-73 PFAM
low complexity region 314 329 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000185493
AA Change: T76I

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000139668
Gene: ENSMUSG00000018189
AA Change: T76I

DomainStartEndE-ValueType
Pfam:Peptidase_C12 7 85 3e-20 PFAM
Pfam:Peptidase_C12 66 169 3.4e-29 PFAM
coiled coil region 177 204 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185742
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189433
Predicted Effect probably benign
Transcript: ENSMUST00000189936
AA Change: T76I

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000140106
Gene: ENSMUSG00000018189
AA Change: T76I

DomainStartEndE-ValueType
Pfam:Peptidase_C12 7 211 1.2e-75 PFAM
low complexity region 314 329 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190224
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190258
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trap allele exhibit embryonic lethality associated with abnormal brain development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl3 C T 4: 98,926,232 (GRCm39) T454I possibly damaging Het
Arhgef4 T C 1: 34,762,162 (GRCm39) S473P unknown Het
Carmil3 GGACGA GGA 14: 55,736,933 (GRCm39) probably benign Het
Cd200r3 T A 16: 44,774,552 (GRCm39) D188E probably benign Het
Clstn3 C T 6: 124,436,179 (GRCm39) R190Q probably damaging Het
Dennd2b A T 7: 109,130,363 (GRCm39) S879R probably damaging Het
Depdc5 CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT 5: 33,067,751 (GRCm39) probably benign Het
Dnaaf5 C T 5: 139,137,282 (GRCm39) Q212* probably null Het
Efcc1 A G 6: 87,730,133 (GRCm39) D482G probably null Het
Eri2 T C 7: 119,389,466 (GRCm39) T151A probably damaging Het
Exoc4 C T 6: 33,254,179 (GRCm39) R112C probably damaging Het
Fyco1 A G 9: 123,667,953 (GRCm39) V91A probably damaging Het
Gm10320 G A 13: 98,626,316 (GRCm39) P23S probably benign Het
Hbs1l A G 10: 21,217,814 (GRCm39) I240M possibly damaging Het
Heatr5b T C 17: 79,118,025 (GRCm39) H806R possibly damaging Het
Herc3 T C 6: 58,837,332 (GRCm39) V335A probably benign Het
Ifi205 G A 1: 173,845,207 (GRCm39) P192S probably benign Het
Ifna6 C A 4: 88,746,086 (GRCm39) T145K probably benign Het
Ifna6 G C 4: 88,746,099 (GRCm39) R149S probably benign Het
Ifna9 T C 4: 88,510,285 (GRCm39) H113R possibly damaging Het
Il17rd T C 14: 26,818,019 (GRCm39) F236S probably damaging Het
Incenp T C 19: 9,861,303 (GRCm39) N450S unknown Het
Jmjd8 C T 17: 26,047,984 (GRCm39) probably null Het
Lhx3 C T 2: 26,094,026 (GRCm39) V66I probably benign Het
Nt5c2 C T 19: 46,880,100 (GRCm39) C336Y probably damaging Het
Ntrk2 G A 13: 59,274,343 (GRCm39) V740I probably damaging Het
Ocln A T 13: 100,648,112 (GRCm39) I104N possibly damaging Het
Or14j8 T C 17: 38,263,613 (GRCm39) I101V probably benign Het
Or8g54 G T 9: 39,707,296 (GRCm39) L208F probably benign Het
Ppp1r3c T C 19: 36,711,522 (GRCm39) K83E probably damaging Het
Sh3glb1 T A 3: 144,405,624 (GRCm39) E77D possibly damaging Het
Slc38a3 T C 9: 107,533,405 (GRCm39) N251S probably benign Het
Spopfm2 T C 3: 94,083,757 (GRCm39) Y18C probably benign Het
Stox2 A T 8: 47,646,414 (GRCm39) S287T probably damaging Het
Sycp2 C A 2: 177,996,802 (GRCm39) V1134F probably damaging Het
Tenm2 C T 11: 35,953,931 (GRCm39) S1260N possibly damaging Het
Tfpi2 T C 6: 3,968,044 (GRCm39) N32S possibly damaging Het
Thoc5 C T 11: 4,874,807 (GRCm39) R533* probably null Het
Ttll2 A T 17: 7,619,120 (GRCm39) I269N probably benign Het
Vmn2r102 A G 17: 19,914,975 (GRCm39) T847A probably benign Het
Xpa T C 4: 46,185,624 (GRCm39) N118S probably benign Het
Xrcc3 A G 12: 111,770,966 (GRCm39) L321P probably damaging Het
Xylt2 T C 11: 94,557,176 (GRCm39) D105G probably benign Het
Other mutations in Uchl5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01985:Uchl5 APN 1 143,661,864 (GRCm39) splice site probably benign
IGL02084:Uchl5 APN 1 143,677,912 (GRCm39) missense possibly damaging 0.86
IGL03387:Uchl5 APN 1 143,677,940 (GRCm39) missense probably benign 0.38
R0530:Uchl5 UTSW 1 143,670,082 (GRCm39) missense possibly damaging 0.94
R1495:Uchl5 UTSW 1 143,675,675 (GRCm39) missense possibly damaging 0.85
R1521:Uchl5 UTSW 1 143,674,160 (GRCm39) missense possibly damaging 0.92
R6579:Uchl5 UTSW 1 143,674,130 (GRCm39) missense probably damaging 1.00
R7383:Uchl5 UTSW 1 143,659,753 (GRCm39) missense probably benign 0.00
R7405:Uchl5 UTSW 1 143,675,752 (GRCm39) nonsense probably null
R7414:Uchl5 UTSW 1 143,682,433 (GRCm39) missense unknown
R7731:Uchl5 UTSW 1 143,670,275 (GRCm39) missense
R8834:Uchl5 UTSW 1 143,661,968 (GRCm39) nonsense probably null
R9690:Uchl5 UTSW 1 143,670,016 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- GCTGTTAAGCCAACATTGTAATGAC -3'
(R):5'- TGCCTGTTATACTAGAAACCCTGAG -3'

Sequencing Primer
(F):5'- GCCAACATTGTAATGACTATAAATGC -3'
(R):5'- AACCCTGAGTTTTCGTACAAGC -3'
Posted On 2015-08-18