Incidental Mutation 'IGL02084:Uchl5'
ID 283474
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 # IGL02084
Quality Score
Status
Chromosome 1
Chromosomal Location 143653010-143683204 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 143677912 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 139 (I139V)
Ref Sequence ENSEMBL: ENSMUSP00000140681 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018333] [ENSMUST00000185493] [ENSMUST00000185539] [ENSMUST00000189936]
AlphaFold Q9WUP7
Predicted Effect possibly damaging
Transcript: ENSMUST00000018333
AA Change: I295V

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000018333
Gene: ENSMUSG00000018189
AA Change: I295V

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 possibly damaging
Transcript: ENSMUST00000185539
AA Change: I139V

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000140681
Gene: ENSMUSG00000018189
AA Change: I139V

DomainStartEndE-ValueType
Pfam:Peptidase_C12 1 54 2e-19 PFAM
coiled coil region 62 89 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000189936
AA Change: I296V

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000140106
Gene: ENSMUSG00000018189
AA Change: I296V

DomainStartEndE-ValueType
Pfam:Peptidase_C12 7 211 1.2e-75 PFAM
low complexity region 314 329 N/A INTRINSIC
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,021,423 (GRCm39) F1096L probably benign Het
Abcd2 T A 15: 91,062,530 (GRCm39) probably null Het
Actr10 T C 12: 71,001,423 (GRCm39) I210T probably damaging Het
Apoa5 A T 9: 46,181,950 (GRCm39) D342V probably damaging Het
Bicra G A 7: 15,721,663 (GRCm39) T618I probably benign Het
Birc6 C A 17: 74,915,277 (GRCm39) Q1642K probably benign Het
Cenpn A G 8: 117,667,634 (GRCm39) Y331C probably damaging Het
Clcn7 T A 17: 25,376,899 (GRCm39) I624N probably benign Het
Eddm3b A T 14: 51,354,087 (GRCm39) H25L unknown Het
Fam90a1a A G 8: 22,449,313 (GRCm39) E19G probably benign Het
Fbh1 T C 2: 11,768,938 (GRCm39) D285G probably benign Het
Fbxo41 A T 6: 85,457,747 (GRCm39) probably null Het
Frem3 A G 8: 81,339,072 (GRCm39) D455G possibly damaging Het
Gart T C 16: 91,418,488 (GRCm39) Q86R probably benign Het
Gm45234 T C 6: 124,724,658 (GRCm39) probably benign Het
Gm5431 C T 11: 48,779,912 (GRCm39) D337N probably benign Het
Gm6882 T A 7: 21,161,512 (GRCm39) I119F probably damaging Het
Kcns3 C T 12: 11,142,195 (GRCm39) R168Q probably damaging Het
Klra17 T A 6: 129,808,556 (GRCm39) N226Y probably damaging Het
Macf1 T C 4: 123,326,396 (GRCm39) N2915D probably benign Het
Macf1 T C 4: 123,353,167 (GRCm39) D1504G probably damaging Het
Mgat4d C T 8: 84,095,610 (GRCm39) S295L possibly damaging Het
Mslnl T C 17: 25,965,125 (GRCm39) V497A probably benign Het
Mtor T C 4: 148,555,137 (GRCm39) S920P probably damaging Het
Mynn C A 3: 30,665,764 (GRCm39) H465Q probably damaging Het
Myo16 A G 8: 10,411,088 (GRCm39) E182G probably damaging Het
Ncln T C 10: 81,324,430 (GRCm39) I417V probably benign Het
Nlrp4f A T 13: 65,341,985 (GRCm39) C553* probably null Het
Or5k14 G A 16: 58,693,399 (GRCm39) T38I probably damaging Het
Or8k37 T A 2: 86,469,980 (GRCm39) Q24L possibly damaging Het
Pkhd1 T C 1: 20,447,623 (GRCm39) I2257V probably damaging Het
Ppp4r4 T A 12: 103,566,657 (GRCm39) S35T possibly damaging Het
Qrfprl T C 6: 65,358,594 (GRCm39) V106A probably benign Het
Rnf213 T C 11: 119,336,499 (GRCm39) V3291A probably benign Het
Runx2 C T 17: 45,035,716 (GRCm39) A173T probably damaging Het
Ryr2 A T 13: 11,807,648 (GRCm39) Y833* probably null Het
Setbp1 G A 18: 78,900,625 (GRCm39) A1014V probably damaging Het
Slc25a38 A G 9: 119,949,512 (GRCm39) probably benign Het
Stk4 A G 2: 163,928,527 (GRCm39) T120A probably benign Het
Taf3 A T 2: 10,047,330 (GRCm39) V106D probably benign Het
Ung A G 5: 114,268,637 (GRCm39) E25G probably benign Het
Wrn A G 8: 33,775,207 (GRCm39) V619A probably benign Het
Other mutations in Uchl5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01985:Uchl5 APN 1 143,661,864 (GRCm39) splice site probably benign
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