Incidental Mutation 'R9690:Uchl5'
ID 729086
Institutional Source Beutler Lab
Gene Symbol Uchl5
Ensembl Gene ENSMUSG00000018189
Gene Name ubiquitin carboxyl-terminal esterase L5
Synonyms Uch37, 5830413B11Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9690 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 143653010-143683204 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 143670016 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 83 (V83A)
Ref Sequence ENSEMBL: ENSMUSP00000140106 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018333] [ENSMUST00000185493] [ENSMUST00000185539] [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 damaging
Transcript: ENSMUST00000018333
AA Change: V83A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000018333
Gene: ENSMUSG00000018189
AA Change: V83A

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 probably benign
Transcript: ENSMUST00000185539
SMART Domains Protein: ENSMUSP00000140681
Gene: ENSMUSG00000018189

DomainStartEndE-ValueType
Pfam:Peptidase_C12 1 54 2e-19 PFAM
coiled coil region 62 89 N/A INTRINSIC
Predicted Effect
SMART Domains Protein: ENSMUSP00000140106
Gene: ENSMUSG00000018189
AA Change: V83A

DomainStartEndE-ValueType
Pfam:Peptidase_C12 7 211 1.2e-75 PFAM
low complexity region 314 329 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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
AI182371 T A 2: 34,990,600 (GRCm39) E22D probably benign Het
Apbb2 C T 5: 66,609,521 (GRCm39) R42H probably damaging Het
Atf2 A T 2: 73,675,813 (GRCm39) S179R probably benign Het
Cage1 A G 13: 38,203,141 (GRCm39) probably null Het
Ccdc121rt3 T C 5: 112,503,300 (GRCm39) T135A probably benign Het
Cnnm1 A G 19: 43,460,345 (GRCm39) T696A probably benign Het
Cyp4f17 T A 17: 32,725,950 (GRCm39) S28T probably benign Het
Ddx59 T A 1: 136,352,540 (GRCm39) I327K probably damaging Het
Ep300 A C 15: 81,520,396 (GRCm39) Q1229P unknown Het
Epb41l1 A T 2: 156,356,038 (GRCm39) I525F probably damaging Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Fam83b A G 9: 76,398,502 (GRCm39) I867T probably benign Het
Gapvd1 C T 2: 34,618,492 (GRCm39) V294I probably damaging Het
Gm5798 T G 14: 41,070,596 (GRCm39) F2C probably damaging Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
Irgq G T 7: 24,233,580 (GRCm39) A474S probably benign Het
Itih3 T C 14: 30,640,264 (GRCm39) K348R probably benign Het
Kcnip4 T A 5: 48,555,846 (GRCm39) N154I probably damaging Het
Letm2 T A 8: 26,077,435 (GRCm39) K218N probably damaging Het
Mak16 T C 8: 31,650,798 (GRCm39) S231G probably damaging Het
Med13 A T 11: 86,169,670 (GRCm39) I1898K probably damaging Het
Mtcl2 A T 2: 156,862,134 (GRCm39) D1598E probably benign Het
Myh13 C T 11: 67,249,194 (GRCm39) L1305F probably damaging Het
Nynrin T C 14: 56,108,204 (GRCm39) Y1104H probably benign Het
Olfm3 A T 3: 114,890,593 (GRCm39) L115F probably benign Het
Olfm3 A T 3: 114,890,594 (GRCm39) K116* probably null Het
Or1j11 T A 2: 36,311,530 (GRCm39) L40Q probably damaging Het
Or4k35 C T 2: 111,099,822 (GRCm39) A297T probably damaging Het
Or5w22 C A 2: 87,362,759 (GRCm39) N127K probably benign Het
Or8b3b C A 9: 38,584,477 (GRCm39) E88* probably null Het
Pals1 T A 12: 78,866,117 (GRCm39) V314D probably damaging Het
Proc C T 18: 32,256,371 (GRCm39) G432D probably damaging Het
Ptpn20 T C 14: 33,353,176 (GRCm39) V305A probably benign Het
Rmnd5b T C 11: 51,518,511 (GRCm39) M122V probably benign Het
Sema4f A T 6: 82,912,652 (GRCm39) N130K probably damaging Het
Sipa1l2 T C 8: 126,218,996 (GRCm39) I114V probably benign Het
Spata16 A T 3: 26,967,432 (GRCm39) D394V probably damaging Het
Spidr T C 16: 15,958,649 (GRCm39) T38A probably damaging Het
Tnxb T C 17: 34,936,171 (GRCm39) Y2703H probably damaging Het
Trmt11 A C 10: 30,436,938 (GRCm39) D267E probably damaging Het
Tspyl5 C A 15: 33,687,433 (GRCm39) A171S probably benign Het
Vmn1r87 A G 7: 12,866,263 (GRCm39) I8T probably benign Het
Vmn2r53 A G 7: 12,315,912 (GRCm39) S636P probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- GACTGTCTAGAATCTTCCACACAAG -3'
(R):5'- TGAGTTACTCAATGCCAGCCC -3'

Sequencing Primer
(F):5'- CCACACAAGAATTTTATCAAGTTCC -3'
(R):5'- CAGCCCCTTCATCTAAAACAATTTTG -3'
Posted On 2022-10-06