Mutagenetix > Incidental Mutation

Incidental Mutation 'R5542:Usp46'

436019

Institutional Source

Beutler Lab

Gene Symbol

Usp46

Ensembl Gene

ENSMUSG00000054814

Gene Name

ubiquitin specific peptidase 46

Synonyms

1190009E20Rik, 2410018I08Rik

MMRRC Submission

043100-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.204) question?

Stock #

R5542 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74159387-74229070 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74189902 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 43 (M43K)

Ref Sequence

ENSEMBL: ENSMUSP00000144284 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068058] [ENSMUST00000119154] [ENSMUST00000145016] [ENSMUST00000152408]

AlphaFold

P62069

Predicted Effect

probably benign
Transcript: ENSMUST00000068058
AA Change: M154K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000070554
Gene: ENSMUSG00000054814
AA Change: M154K

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 benign
Transcript: ENSMUST00000119154
AA Change: M127K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000114060
Gene: ENSMUSG00000054814
AA Change: M127K

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000129275

Predicted Effect

probably benign
Transcript: ENSMUST00000145016

SMART Domains

Protein: ENSMUSP00000114395
Gene: ENSMUSG00000054814

Domain	Start	End	E-Value	Type
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

probably benign
Transcript: ENSMUST00000152408
AA Change: M43K

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000144284
Gene: ENSMUSG00000054814
AA Change: M43K

Domain	Start	End	E-Value	Type
Pfam:UCH	1	132	1e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152787

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202793

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180935

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	C	T	3: 59,932,484 (GRCm39)	T333I	probably damaging	Het
Acacb	C	T	5: 114,333,798 (GRCm39)	R574C	probably damaging	Het
Actr10	T	C	12: 71,001,430 (GRCm39)		probably benign	Het
Ankdd1a	T	A	9: 65,411,472 (GRCm39)		probably null	Het
Anks4b	C	T	7: 119,781,646 (GRCm39)	Q226*	probably null	Het
AW146154	C	A	7: 41,130,801 (GRCm39)	G105V	probably benign	Het
Cdh4	T	A	2: 179,502,019 (GRCm39)	N326K	probably damaging	Het
Cnbd1	T	C	4: 18,860,517 (GRCm39)	T410A	possibly damaging	Het
Cndp2	A	T	18: 84,690,201 (GRCm39)	M247K	probably damaging	Het
Crx	G	A	7: 15,602,262 (GRCm39)	R139C	probably damaging	Het
Ctrc	A	G	4: 141,571,037 (GRCm39)	Y68H	probably damaging	Het
Ddx4	T	C	13: 112,757,779 (GRCm39)	D326G	probably damaging	Het
Edem1	C	T	6: 108,831,290 (GRCm39)	R584C	possibly damaging	Het
Emcn	A	G	3: 137,085,638 (GRCm39)	T79A	probably benign	Het
Ext1	C	A	15: 52,939,213 (GRCm39)	W612L	probably damaging	Het
Fbrsl1	C	T	5: 110,526,307 (GRCm39)	G437R	probably damaging	Het
Fbxo7	A	C	10: 85,869,149 (GRCm39)	Q201P	probably benign	Het
Fbxo9	T	C	9: 78,008,938 (GRCm39)	M12V	possibly damaging	Het
Fcgbpl1	A	T	7: 27,854,914 (GRCm39)	I1847F	probably damaging	Het
Flii	A	G	11: 60,609,688 (GRCm39)	S640P	probably benign	Het
Fsip2	A	T	2: 82,812,207 (GRCm39)	N2842I	possibly damaging	Het
Fst	G	T	13: 114,592,241 (GRCm39)	Q159K	probably damaging	Het
Fuom	A	T	7: 139,680,025 (GRCm39)	*109R	probably null	Het
Hhipl2	A	G	1: 183,214,055 (GRCm39)	D377G	probably damaging	Het
Hspa14	A	G	2: 3,503,560 (GRCm39)	V116A	possibly damaging	Het
Ighm	A	G	12: 113,382,601 (GRCm39)		probably benign	Het
Ighv1-85	T	A	12: 115,963,847 (GRCm39)	Y51F	probably benign	Het
Ighv2-3	A	T	12: 113,574,833 (GRCm39)	D107E	probably benign	Het
Ighv2-6-8	T	A	12: 113,760,187 (GRCm39)	M1L	probably benign	Het
Ipo5	T	C	14: 121,163,683 (GRCm39)	V247A	probably benign	Het
Itga9	T	C	9: 118,672,729 (GRCm39)	F154L	possibly damaging	Het
Itprid1	C	A	6: 55,955,380 (GRCm39)	P996Q	probably damaging	Het
Knl1	T	A	2: 118,898,829 (GRCm39)	C177S	possibly damaging	Het
Lrrc17	G	A	5: 21,780,156 (GRCm39)	G377S	probably damaging	Het
Marveld3	A	T	8: 110,675,249 (GRCm39)	I189K	probably benign	Het
Msantd2	G	A	9: 37,428,555 (GRCm39)	G185R	probably damaging	Het
Mtcl1	G	A	17: 66,691,354 (GRCm39)		probably benign	Het
Muc21	T	C	17: 35,933,395 (GRCm39)		probably benign	Het
Mycbpap	A	T	11: 94,398,572 (GRCm39)		probably null	Het
Nbeal1	A	G	1: 60,316,353 (GRCm39)	D1852G	probably benign	Het
Ndc80	A	T	17: 71,807,276 (GRCm39)	V560D	probably benign	Het
Nscme3l	A	T	19: 5,553,463 (GRCm39)	V106D	probably damaging	Het
Or1e25	T	A	11: 73,494,030 (GRCm39)	V208E	possibly damaging	Het
Or2t48	A	C	11: 58,420,710 (GRCm39)	V34G	probably benign	Het
Or56a3	A	T	7: 104,735,565 (GRCm39)	D214V	probably damaging	Het
Or6a2	A	T	7: 106,600,286 (GRCm39)	S260R	probably damaging	Het
Or9i1b	T	C	19: 13,896,411 (GRCm39)	V9A	probably benign	Het
Pcdhga4	A	T	18: 37,819,651 (GRCm39)	Y400F	probably damaging	Het
Pkd2	A	G	5: 104,634,515 (GRCm39)		silent	Het
Plxna4	T	A	6: 32,183,165 (GRCm39)	I913F	probably damaging	Het
Psmc1	T	C	12: 100,086,399 (GRCm39)		probably null	Het
Robo2	G	A	16: 73,695,853 (GRCm39)	T1430I	probably benign	Het
Safb2	G	A	17: 56,882,647 (GRCm39)	R329C	probably damaging	Het
Septin14	T	C	5: 129,774,926 (GRCm39)	H83R	probably damaging	Het
Slc16a10	A	G	10: 39,952,784 (GRCm39)	F237L	probably benign	Het
Slc37a1	A	T	17: 31,559,236 (GRCm39)	T439S	probably damaging	Het
Slc6a6	T	C	6: 91,712,170 (GRCm39)	F233S	probably damaging	Het
Smyd3	A	T	1: 179,238,024 (GRCm39)	D114E	probably benign	Het
Sned1	T	C	1: 93,199,324 (GRCm39)	I468T	probably benign	Het
Speer4a1	T	A	5: 26,241,736 (GRCm39)	N130I	probably damaging	Het
Tdrd7	T	C	4: 46,029,757 (GRCm39)	V1030A	probably benign	Het
Trip12	A	T	1: 84,727,065 (GRCm39)	D1135E	probably damaging	Het
Tsga10	T	A	1: 37,800,598 (GRCm39)	D542V	probably damaging	Het
Ubqlnl	G	A	7: 103,798,904 (GRCm39)	Q198*	probably null	Het
Unc93a2	A	T	17: 7,637,187 (GRCm39)	C334S	probably benign	Het
Vmn1r175	A	T	7: 23,508,531 (GRCm39)	I32N	possibly damaging	Het
Vmn1r29	C	T	6: 58,285,108 (GRCm39)	T276I	probably benign	Het
Vmn1r81	A	T	7: 11,994,034 (GRCm39)	D191E	probably damaging	Het
Zbtb5	C	A	4: 44,995,052 (GRCm39)	V111F	probably damaging	Het
Zfp12	C	T	5: 143,230,240 (GRCm39)	P189L	possibly damaging	Het
Zfp729b	A	G	13: 67,739,140 (GRCm39)	F1042L	probably benign	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
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'- GGATAGTCCACACGTACTGAAAAC -3'
(R):5'- CGTCTGTTTGCTCTTGAAGACG -3'

Sequencing Primer
(F):5'- GTAAGCACGAGATATCTCAATACAC -3'
(R):5'- TTGCTCTTGAAGACGCAGAG -3'

Posted On

2016-10-24