Mutagenetix > Incidental Mutation

Incidental Mutation 'R7080:Usp46'

549457

Institutional Source

Beutler Lab

Gene Symbol

Usp46

Ensembl Gene

ENSMUSG00000054814

Gene Name

ubiquitin specific peptidase 46

Synonyms

1190009E20Rik, 2410018I08Rik

MMRRC Submission

045174-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.186) question?

Stock #

R7080 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74159387-74229070 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 74177344 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 205 (N205K)

Ref Sequence

ENSEMBL: ENSMUSP00000070554 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068058] [ENSMUST00000119154]

AlphaFold

P62069

Predicted Effect

probably benign
Transcript: ENSMUST00000068058
AA Change: N205K

PolyPhen 2 Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000070554
Gene: ENSMUSG00000054814
AA Change: N205K

Domain	Start	End	E-Value	Type
Pfam:UCH	34	362	6.8e-67	PFAM
Pfam:UCH_1	35	335	1.5e-35	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000119154
AA Change: N178K

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000114060
Gene: ENSMUSG00000054814
AA Change: N178K

Domain	Start	End	E-Value	Type
Pfam:UCH	9	335	4.1e-67	PFAM
Pfam:UCH_1	11	308	2.9e-36	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

94% (47/50)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	G	2: 25,336,116 (GRCm39)	E2162G	probably benign	Het
Ackr4	A	G	9: 103,976,761 (GRCm39)	V62A	probably damaging	Het
Atox1	T	A	11: 55,341,365 (GRCm39)	K57*	probably null	Het
Atp6v1e1	G	A	6: 120,799,350 (GRCm39)		probably benign	Het
Bmpr2	T	C	1: 59,906,842 (GRCm39)	V645A	probably benign	Het
Brwd1	T	C	16: 95,810,730 (GRCm39)	T1602A	probably benign	Het
Cdc42bpg	T	C	19: 6,365,219 (GRCm39)	V692A	probably damaging	Het
Cdca2	T	C	14: 67,935,551 (GRCm39)	D388G	probably damaging	Het
Celsr1	G	A	15: 85,816,652 (GRCm39)	R1764C	possibly damaging	Het
Copz2	G	T	11: 96,747,538 (GRCm39)	V174L	probably benign	Het
Dnaaf1	T	C	8: 120,309,335 (GRCm39)	L141P	probably damaging	Het
Fam170a	T	A	18: 50,413,740 (GRCm39)		probably null	Het
Fshr	A	T	17: 89,404,539 (GRCm39)		probably null	Het
Gbx1	C	T	5: 24,731,298 (GRCm39)	A173T	probably benign	Het
Gm3604	G	A	13: 62,518,109 (GRCm39)	A83V	probably damaging	Het
Gpr19	A	T	6: 134,847,419 (GRCm39)	V88D	probably damaging	Het
Hnrnpd	C	T	5: 100,124,392 (GRCm39)		probably null	Het
Homez	T	C	14: 55,095,112 (GRCm39)	S199G	probably benign	Het
Kit	T	C	5: 75,767,941 (GRCm39)	I108T	probably damaging	Het
Lrrc34	A	C	3: 30,688,705 (GRCm39)	Y199D	probably damaging	Het
Mapk12	T	C	15: 89,017,350 (GRCm39)	D208G	probably damaging	Het
Mon1a	A	G	9: 107,778,985 (GRCm39)	D403G	probably damaging	Het
Myo1d	C	T	11: 80,565,460 (GRCm39)	E426K	probably damaging	Het
Nol11	G	A	11: 107,070,878 (GRCm39)	T307I	probably damaging	Het
Or10d5	A	G	9: 39,861,444 (GRCm39)	C208R	probably damaging	Het
Or52b4	A	T	7: 102,184,172 (GRCm39)	I73F	possibly damaging	Het
Or5aq1b	A	G	2: 86,902,083 (GRCm39)	Y132H	probably damaging	Het
Or6d15	A	T	6: 116,559,314 (GRCm39)	F198I	probably damaging	Het
Or8k28	A	T	2: 86,285,835 (GRCm39)	L260*	probably null	Het
Pcdhb16	C	T	18: 37,611,516 (GRCm39)	Q159*	probably null	Het
Phf19	G	A	2: 34,788,724 (GRCm39)		probably null	Het
Qrfpr	C	T	3: 36,234,198 (GRCm39)	R381H	probably benign	Het
Rad51ap2	A	G	12: 11,506,366 (GRCm39)	D96G	probably benign	Het
Ranbp1	T	C	16: 18,063,097 (GRCm39)	D93G	possibly damaging	Het
Reep1	A	G	6: 71,757,749 (GRCm39)	D116G	possibly damaging	Het
Rinl	T	C	7: 28,496,101 (GRCm39)	C361R	probably damaging	Het
Rps6kb1	T	C	11: 86,397,666 (GRCm39)	D393G	probably damaging	Het
Slc2a12	T	C	10: 22,541,216 (GRCm39)	V357A	probably benign	Het
Spryd3	T	C	15: 102,026,627 (GRCm39)	D348G	probably benign	Het
Syne2	G	A	12: 76,099,501 (GRCm39)	A569T	probably benign	Het
Tcstv5	T	C	13: 120,411,270 (GRCm39)	D112G	probably benign	Het
Thoc6	C	T	17: 23,892,503 (GRCm39)	R6Q	probably null	Het
Tyw3	G	C	3: 154,299,426 (GRCm39)	S94R	probably benign	Het
Unc13b	C	T	4: 43,171,926 (GRCm39)	T918I	unknown	Het
Unc80	A	T	1: 66,685,680 (GRCm39)	H2268L	possibly damaging	Het
Urod	C	T	4: 116,849,838 (GRCm39)	A187T	probably damaging	Het
Wapl	T	C	14: 34,414,313 (GRCm39)	F392L	probably benign	Het
Zim1	T	C	7: 6,680,305 (GRCm39)	T453A	possibly damaging	Het

Other mutations in Usp46

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R4051:Usp46	UTSW	5	74,163,416 (GRCm39)	missense	probably benign	0.01
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
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'- TCTGTTCAAAAGGACCCTCCC -3'
(R):5'- AGTGTTCATAGCCACATGTGAC -3'

Sequencing Primer
(F):5'- TGTTCAAAAGGACCCTCCCAACTC -3'
(R):5'- AGCCACATGTGACTTTATTTTGC -3'

Posted On

2019-05-15