Incidental Mutation 'IGL01468:Uchl4'
ID 88159
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Uchl4
Ensembl Gene ENSMUSG00000035337
Gene Name ubiquitin carboxyl-terminal esterase L4
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01468
Quality Score
Status
Chromosome 9
Chromosomal Location 64142483-64143644 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 64142998 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 160 (T160A)
Ref Sequence ENSEMBL: ENSMUSP00000045208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005066] [ENSMUST00000039011]
AlphaFold P58321
Predicted Effect probably benign
Transcript: ENSMUST00000005066
SMART Domains Protein: ENSMUSP00000005066
Gene: ENSMUSG00000004936

DomainStartEndE-ValueType
low complexity region 30 51 N/A INTRINSIC
S_TKc 68 361 4.44e-80 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000039011
AA Change: T160A

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000045208
Gene: ENSMUSG00000035337
AA Change: T160A

DomainStartEndE-ValueType
Pfam:Peptidase_C12 6 217 2.2e-65 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214497
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 G A 10: 79,839,711 (GRCm39) V781I probably benign Het
Aldh5a1 G T 13: 25,095,536 (GRCm39) probably benign Het
Arhgap12 T C 18: 6,057,576 (GRCm39) T435A probably benign Het
Atrnl1 G A 19: 57,688,144 (GRCm39) V870I probably benign Het
Cerkl A T 2: 79,173,559 (GRCm39) probably null Het
Cntnap2 T A 6: 47,248,305 (GRCm39) L13* probably null Het
Cr2 G A 1: 194,850,843 (GRCm39) P208S probably damaging Het
Dapk1 A G 13: 60,908,612 (GRCm39) D1075G probably benign Het
Dhx57 T A 17: 80,563,039 (GRCm39) K863* probably null Het
Dnaaf5 C A 5: 139,137,235 (GRCm39) probably null Het
Fbxw7 T A 3: 84,879,806 (GRCm39) I336K probably benign Het
Ftcd A G 10: 76,420,421 (GRCm39) D385G probably benign Het
Gm10153 T C 7: 141,743,778 (GRCm39) S117G unknown Het
Gzmb T C 14: 56,497,772 (GRCm39) Y156C probably benign Het
Herc3 T A 6: 58,831,880 (GRCm39) D83E probably benign Het
Kif2b A G 11: 91,467,191 (GRCm39) V364A probably damaging Het
Mknk2 A G 10: 80,503,498 (GRCm39) probably benign Het
Or7a36 A T 10: 78,819,696 (GRCm39) Q24L probably damaging Het
Pgm1 A T 4: 99,819,367 (GRCm39) N197I possibly damaging Het
Prss39 C T 1: 34,538,481 (GRCm39) probably benign Het
Shroom3 T C 5: 93,088,201 (GRCm39) V236A probably damaging Het
Slc17a8 C T 10: 89,427,883 (GRCm39) probably null Het
Slc24a3 A G 2: 145,455,500 (GRCm39) Y463C probably benign Het
Slc4a7 A G 14: 14,737,480 (GRCm38) E149G probably damaging Het
Synj1 G A 16: 90,807,060 (GRCm39) probably benign Het
Tas2r138 T A 6: 40,589,410 (GRCm39) M279L probably benign Het
Terb1 A G 8: 105,208,799 (GRCm39) probably benign Het
Tiparp G T 3: 65,460,030 (GRCm39) G442* probably null Het
Trmt5 C T 12: 73,327,878 (GRCm39) V442I probably benign Het
Tsc2 T C 17: 24,840,071 (GRCm39) I383V possibly damaging Het
Vmn2r3 A T 3: 64,182,382 (GRCm39) M439K possibly damaging Het
Vmn2r4 A T 3: 64,313,816 (GRCm39) N388K probably damaging Het
Vmn2r52 A T 7: 9,892,868 (GRCm39) L757Q probably damaging Het
Zfp518a T C 19: 40,904,475 (GRCm39) V1468A probably benign Het
Zxdc A T 6: 90,350,761 (GRCm39) E404V probably damaging Het
Other mutations in Uchl4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01710:Uchl4 APN 9 64,142,788 (GRCm39) missense probably benign 0.20
IGL02030:Uchl4 APN 9 64,142,911 (GRCm39) missense probably benign
IGL02739:Uchl4 APN 9 64,142,819 (GRCm39) missense probably damaging 1.00
R0026:Uchl4 UTSW 9 64,142,653 (GRCm39) splice site probably null
R0026:Uchl4 UTSW 9 64,142,653 (GRCm39) splice site probably null
R1572:Uchl4 UTSW 9 64,143,013 (GRCm39) missense probably benign
R1801:Uchl4 UTSW 9 64,142,757 (GRCm39) missense probably benign
R2113:Uchl4 UTSW 9 64,142,818 (GRCm39) missense probably damaging 1.00
R4042:Uchl4 UTSW 9 64,142,839 (GRCm39) missense probably benign 0.00
R4500:Uchl4 UTSW 9 64,143,163 (GRCm39) missense possibly damaging 0.96
R4625:Uchl4 UTSW 9 64,143,080 (GRCm39) missense probably damaging 1.00
R5176:Uchl4 UTSW 9 64,143,022 (GRCm39) nonsense probably null
R5364:Uchl4 UTSW 9 64,142,821 (GRCm39) missense possibly damaging 0.88
R6581:Uchl4 UTSW 9 64,143,075 (GRCm39) missense possibly damaging 0.93
R7134:Uchl4 UTSW 9 64,142,621 (GRCm39) missense probably damaging 1.00
R7451:Uchl4 UTSW 9 64,143,013 (GRCm39) missense probably benign
R8268:Uchl4 UTSW 9 64,142,791 (GRCm39) missense probably damaging 1.00
R8804:Uchl4 UTSW 9 64,142,606 (GRCm39) missense probably damaging 1.00
R9177:Uchl4 UTSW 9 64,142,986 (GRCm39) missense probably benign 0.24
Posted On 2013-11-18