Incidental Mutation 'IGL01985:Uchl5'
ID 279247
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01985
Quality Score
Status
Chromosome 1
Chromosomal Location 143653010-143683204 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 143661864 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140106 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018333] [ENSMUST00000185493] [ENSMUST00000189936]
AlphaFold Q9WUP7
PDB Structure Crystal structure of mUCH37-hRPN13 CTD complex [X-RAY DIFFRACTION]
Crystal Structure of mUCH37-hRPN13 CTD-hUb complex [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000018333
SMART Domains Protein: ENSMUSP00000018333
Gene: ENSMUSG00000018189

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
SMART Domains Protein: ENSMUSP00000139668
Gene: ENSMUSG00000018189

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
SMART Domains Protein: ENSMUSP00000140106
Gene: ENSMUSG00000018189

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
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
AAdacl4fm3 G A 4: 144,442,024 (GRCm39) Q76* probably null Het
Cass4 A C 2: 172,269,126 (GRCm39) S403R probably damaging Het
Ccdc175 A T 12: 72,175,052 (GRCm39) Y540* probably null Het
Cep164 C T 9: 45,690,904 (GRCm39) E1266K probably damaging Het
Clec12b T A 6: 129,359,334 (GRCm39) probably benign Het
Col6a5 T C 9: 105,814,482 (GRCm39) K510R unknown Het
Crisp4 G A 1: 18,204,289 (GRCm39) P101S probably damaging Het
Dapk1 T C 13: 60,884,074 (GRCm39) L614P probably damaging Het
Dip2c T C 13: 9,603,303 (GRCm39) probably benign Het
Dock7 A G 4: 98,911,614 (GRCm39) F589L probably benign Het
Dvl2 T A 11: 69,899,119 (GRCm39) V459E probably damaging Het
E2f6 T C 12: 16,869,064 (GRCm39) probably null Het
Exph5 T C 9: 53,287,869 (GRCm39) L1650P probably damaging Het
Farp2 A G 1: 93,535,324 (GRCm39) Y691C probably damaging Het
Fshb T C 2: 106,889,173 (GRCm39) T44A probably benign Het
Gm28044 T A 13: 67,495,958 (GRCm39) K28* probably null Het
Il12b G A 11: 44,298,881 (GRCm39) W112* probably null Het
Ino80 T C 2: 119,263,802 (GRCm39) T621A probably damaging Het
Irx5 T A 8: 93,086,155 (GRCm39) probably benign Het
Jmy T C 13: 93,596,144 (GRCm39) H495R possibly damaging Het
Kif21a A T 15: 90,875,970 (GRCm39) V321D probably damaging Het
Lrrc10 T A 10: 116,881,921 (GRCm39) D198E probably damaging Het
Lrsam1 T C 2: 32,818,103 (GRCm39) E651G probably benign Het
Mtarc1 A G 1: 184,519,931 (GRCm39) V230A probably damaging Het
Mylk4 T A 13: 32,901,564 (GRCm39) I475L possibly damaging Het
Myom3 G A 4: 135,493,013 (GRCm39) probably null Het
Or5ac19 A T 16: 59,089,442 (GRCm39) V196E probably benign Het
Pah G A 10: 87,414,844 (GRCm39) V399M probably damaging Het
Pik3r4 G A 9: 105,540,244 (GRCm39) E711K probably benign Het
Rbbp6 A G 7: 122,570,296 (GRCm39) K38E probably damaging Het
Ror1 G A 4: 100,283,161 (GRCm39) V409M possibly damaging Het
Slc6a11 T A 6: 114,111,853 (GRCm39) V140D probably benign Het
Srebf2 G T 15: 82,076,560 (GRCm39) A737S probably benign Het
Tcerg1 A G 18: 42,663,721 (GRCm39) T303A unknown Het
Tmem74 A T 15: 43,730,476 (GRCm39) I189N probably damaging Het
Tnr A G 1: 159,746,607 (GRCm39) D1242G possibly damaging Het
U2surp A T 9: 95,372,279 (GRCm39) F293L probably damaging Het
Usp34 T A 11: 23,402,565 (GRCm39) C2472S probably damaging Het
Usp42 G A 5: 143,700,940 (GRCm39) R1028W probably damaging Het
Vmn2r10 A G 5: 109,154,125 (GRCm39) S60P probably benign Het
Vmn2r31 G T 7: 7,397,510 (GRCm39) D249E probably benign Het
Vnn1 C T 10: 23,776,642 (GRCm39) T331I probably benign Het
Zmym6 G T 4: 126,994,541 (GRCm39) V232F probably damaging Het
Other mutations in Uchl5
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R4534:Uchl5 UTSW 1 143,661,954 (GRCm39) missense probably benign 0.35
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
Posted On 2015-04-16