Incidental Mutation 'R4051:Usp46'
ID 314153
Institutional Source Beutler Lab
Gene Symbol Usp46
Ensembl Gene ENSMUSG00000054814
Gene Name ubiquitin specific peptidase 46
Synonyms 1190009E20Rik, 2410018I08Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.204) question?
Stock # R4051 ()
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 74159387-74229070 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74163416 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 283 (N283S)
Ref Sequence ENSEMBL: ENSMUSP00000114060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068058] [ENSMUST00000119154]
AlphaFold P62069
Predicted Effect probably benign
Transcript: ENSMUST00000068058
AA Change: N310S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000070554
Gene: ENSMUSG00000054814
AA Change: N310S

DomainStartEndE-ValueType
Pfam:UCH 34 362 6.8e-67 PFAM
Pfam:UCH_1 35 335 1.5e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119154
AA Change: N283S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000114060
Gene: ENSMUSG00000054814
AA Change: N283S

DomainStartEndE-ValueType
Pfam:UCH 9 335 4.1e-67 PFAM
Pfam:UCH_1 11 308 2.9e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128750
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 93.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP46 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Jun 2009]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit reduced depression-related behaviors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 A C 7: 45,635,987 (GRCm39) L1020R probably damaging Het
Ahnak A C 19: 8,991,691 (GRCm39) D4325A probably damaging Het
Chtf18 A G 17: 25,938,168 (GRCm39) V955A probably damaging Het
Dclk2 A G 3: 86,738,129 (GRCm39) probably null Het
Disc1 A G 8: 125,875,164 (GRCm39) T547A possibly damaging Het
Eif4b A G 15: 101,995,039 (GRCm39) Y211C probably benign Het
Fli1 T G 9: 32,363,458 (GRCm39) D176A probably benign Het
Hcn2 A C 10: 79,569,521 (GRCm39) probably null Het
Ice1 A G 13: 70,751,646 (GRCm39) V1480A probably damaging Het
Ier5l A C 2: 30,363,324 (GRCm39) S234A probably benign Het
Ino80b G C 6: 83,099,314 (GRCm39) P178R probably damaging Het
Itga11 C T 9: 62,662,933 (GRCm39) Q550* probably null Het
Kdr T A 5: 76,129,068 (GRCm39) M193L probably benign Het
Kif3b G A 2: 153,165,477 (GRCm39) R628Q probably damaging Het
Ldlrad3 C T 2: 101,783,507 (GRCm39) D240N probably damaging Het
Met T C 6: 17,548,728 (GRCm39) V924A possibly damaging Het
Or52m1 T C 7: 102,290,233 (GRCm39) V260A possibly damaging Het
Peg10 T C 6: 4,754,534 (GRCm39) L105P probably benign Het
Phtf1 A G 3: 103,912,824 (GRCm39) T717A possibly damaging Het
Ptafr T C 4: 132,307,305 (GRCm39) W232R probably benign Het
Rnase4 A G 14: 51,342,462 (GRCm39) K62R probably benign Het
Slamf7 T C 1: 171,464,951 (GRCm39) K261E possibly damaging Het
Slc9c1 T A 16: 45,363,593 (GRCm39) Y120N probably damaging Het
Sstr2 A C 11: 113,515,482 (GRCm39) T134P probably damaging Het
Steap4 A G 5: 8,030,404 (GRCm39) Y420C probably damaging Het
Tbc1d9b T C 11: 50,062,070 (GRCm39) C1210R probably benign Het
Tnfsf10 T A 3: 27,389,503 (GRCm39) I188N probably damaging Het
Trav7-3 A G 14: 53,681,203 (GRCm39) T82A probably benign Het
Vmn2r84 T G 10: 130,226,767 (GRCm39) N357T probably damaging Het
Zfp217 T C 2: 169,954,536 (GRCm39) probably null Het
Other mutations in Usp46
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Usp46 APN 5 74,163,347 (GRCm39) missense probably null 0.03
IGL00401:Usp46 APN 5 74,163,832 (GRCm39) missense probably damaging 1.00
IGL00949:Usp46 APN 5 74,163,903 (GRCm39) missense possibly damaging 0.67
IGL02108:Usp46 APN 5 74,189,867 (GRCm39) missense probably damaging 1.00
IGL02325:Usp46 APN 5 74,197,689 (GRCm39) splice site probably null
IGL02383:Usp46 APN 5 74,190,014 (GRCm39) missense probably benign 0.22
IGL02400:Usp46 APN 5 74,197,713 (GRCm39) missense probably benign 0.00
IGL02833:Usp46 APN 5 74,177,343 (GRCm39) missense probably benign 0.01
R0091:Usp46 UTSW 5 74,163,918 (GRCm39) missense probably benign 0.25
R1186:Usp46 UTSW 5 74,162,783 (GRCm39) missense probably benign 0.01
R1714:Usp46 UTSW 5 74,163,828 (GRCm39) missense probably benign 0.35
R4023:Usp46 UTSW 5 74,193,136 (GRCm39) missense probably damaging 1.00
R4239:Usp46 UTSW 5 74,192,928 (GRCm39) unclassified probably benign
R4240:Usp46 UTSW 5 74,192,928 (GRCm39) unclassified probably benign
R5542:Usp46 UTSW 5 74,189,902 (GRCm39) missense probably benign 0.03
R5907:Usp46 UTSW 5 74,197,746 (GRCm39) missense probably benign 0.05
R6442:Usp46 UTSW 5 74,177,377 (GRCm39) missense probably benign 0.01
R6770:Usp46 UTSW 5 74,193,015 (GRCm39) missense probably benign 0.00
R6856:Usp46 UTSW 5 74,189,595 (GRCm39) unclassified probably benign
R7080:Usp46 UTSW 5 74,177,344 (GRCm39) missense probably benign 0.31
R7430:Usp46 UTSW 5 74,163,849 (GRCm39) missense probably damaging 1.00
R7475:Usp46 UTSW 5 74,189,598 (GRCm39) nonsense probably null
R7782:Usp46 UTSW 5 74,162,772 (GRCm39) missense probably benign 0.00
R8171:Usp46 UTSW 5 74,163,354 (GRCm39) missense probably benign 0.04
R8695:Usp46 UTSW 5 74,189,897 (GRCm39) missense probably benign 0.01
R9262:Usp46 UTSW 5 74,189,965 (GRCm39) missense probably benign 0.07
R9302:Usp46 UTSW 5 74,163,922 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGTTCAATACTACTGGTAAGTGGG -3'
(R):5'- CTGCCAGAATTGTGGACTTAGAC -3'

Sequencing Primer
(F):5'- ACTACTGGTAAGTGGGTTTATTTAGG -3'
(R):5'- ACAGCATGTCGGTATGGTACC -3'
Posted On 2015-04-30