Incidental Mutation 'IGL02400:Usp46'
ID291866
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp46
Ensembl Gene ENSMUSG00000054814
Gene Nameubiquitin specific peptidase 46
Synonyms1190009E20Rik, 2410018I08Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.242) question?
Stock #IGL02400
Quality Score
Status
Chromosome5
Chromosomal Location73998453-74068431 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 74037052 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 26 (H26R)
Ref Sequence ENSEMBL: ENSMUSP00000114395 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068058] [ENSMUST00000119154] [ENSMUST00000145016]
Predicted Effect probably benign
Transcript: ENSMUST00000068058
AA Change: H33R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000070554
Gene: ENSMUSG00000054814
AA Change: H33R

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
SMART Domains Protein: ENSMUSP00000114060
Gene: ENSMUSG00000054814

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
Predicted Effect probably benign
Transcript: ENSMUST00000145016
AA Change: H26R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000114395
Gene: ENSMUSG00000054814
AA Change: H26R

DomainStartEndE-ValueType
Pfam:UCH 27 122 4.4e-30 PFAM
Pfam:UCH_1 28 122 3.6e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150009
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152787
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180935
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202793
Coding Region Coverage
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik A G 10: 76,454,810 I128V possibly damaging Het
Arfgef3 G T 10: 18,646,257 Q674K probably damaging Het
Atp6v0a2 T A 5: 124,721,785 N851K probably benign Het
Chrna7 A G 7: 63,099,322 C471R probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Egflam T A 15: 7,247,053 K544M probably benign Het
Erbb3 A C 10: 128,579,524 N385K probably benign Het
Fancm A G 12: 65,113,815 R1388G probably damaging Het
Gm10720 C A 9: 3,016,900 probably null Het
Gm20489 A T X: 101,263,338 N328K possibly damaging Het
Gm5828 G T 1: 16,769,818 noncoding transcript Het
Gnaq T C 19: 16,316,128 Y145H probably damaging Het
Itgbl1 A G 14: 123,846,526 D148G probably damaging Het
Myc T G 15: 61,989,911 probably benign Het
Olfr1033 A T 2: 86,042,076 I254F probably benign Het
Olfr801 A G 10: 129,669,883 V212A probably damaging Het
Olfr975 A G 9: 39,950,339 V144A probably benign Het
Padi3 T G 4: 140,788,868 K567T probably benign Het
Pi4ka T C 16: 17,293,884 T1576A probably damaging Het
Pikfyve A G 1: 65,252,569 R1316G probably damaging Het
Ryr2 A G 13: 11,605,244 probably benign Het
Sash1 G A 10: 8,733,647 R713* probably null Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Tnfsf4 T A 1: 161,395,705 C42S possibly damaging Het
Tpp1 A G 7: 105,747,031 I487T possibly damaging Het
Trim43a T A 9: 88,582,112 N25K probably benign Het
Tuft1 T C 3: 94,635,502 probably benign Het
Zfp560 A T 9: 20,350,600 I85N possibly damaging Het
Other mutations in Usp46
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Usp46 APN 5 74002686 missense probably null 0.03
IGL00401:Usp46 APN 5 74003171 missense probably damaging 1.00
IGL00949:Usp46 APN 5 74003242 missense possibly damaging 0.67
IGL02108:Usp46 APN 5 74029206 missense probably damaging 1.00
IGL02325:Usp46 APN 5 74037028 splice site probably null
IGL02383:Usp46 APN 5 74029353 missense probably benign 0.22
IGL02833:Usp46 APN 5 74016682 missense probably benign 0.01
R0091:Usp46 UTSW 5 74003257 missense probably benign 0.25
R1186:Usp46 UTSW 5 74002122 missense probably benign 0.01
R1714:Usp46 UTSW 5 74003167 missense probably benign 0.35
R4023:Usp46 UTSW 5 74032475 missense probably damaging 1.00
R4051:Usp46 UTSW 5 74002755 missense probably benign 0.01
R4239:Usp46 UTSW 5 74032267 unclassified probably benign
R4240:Usp46 UTSW 5 74032267 unclassified probably benign
R5542:Usp46 UTSW 5 74029241 missense probably benign 0.03
R5907:Usp46 UTSW 5 74037085 missense probably benign 0.05
R6442:Usp46 UTSW 5 74016716 missense probably benign 0.01
R6770:Usp46 UTSW 5 74032354 missense probably benign 0.00
R6856:Usp46 UTSW 5 74028934 unclassified probably benign
R7080:Usp46 UTSW 5 74016683 missense probably benign 0.31
R7430:Usp46 UTSW 5 74003188 missense probably damaging 1.00
R7475:Usp46 UTSW 5 74028937 nonsense probably null
R7782:Usp46 UTSW 5 74002111 missense probably benign 0.00
Posted On2015-04-16