Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03242:Usp13'

414892

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Usp13

Ensembl Gene

ENSMUSG00000056900

Gene Name

ubiquitin specific peptidase 13 (isopeptidase T-3)

Synonyms

ISOT3, 2700071E21Rik, IsoT-3

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03242

Quality Score

Status

Chromosome

Chromosomal Location

32817546-32938071 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32902069 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 496 (M496L)

Ref Sequence

ENSEMBL: ENSMUSP00000103863 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072312] [ENSMUST00000108228] [ENSMUST00000172481]

AlphaFold

Q5BKP2

Predicted Effect

probably benign
Transcript: ENSMUST00000072312
AA Change: M497L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000072155
Gene: ENSMUSG00000056900
AA Change: M497L

Domain	Start	End	E-Value	Type
low complexity region	12	23	N/A	INTRINSIC
Blast:ZnF_UBP	46	91	1e-17	BLAST
low complexity region	116	134	N/A	INTRINSIC
ZnF_UBP	208	263	2.91e-20	SMART
low complexity region	625	639	N/A	INTRINSIC
UBA	652	690	1.25e-6	SMART
UBA	724	761	1.19e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108228
AA Change: M496L

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000103863
Gene: ENSMUSG00000056900
AA Change: M496L

Domain	Start	End	E-Value	Type
low complexity region	12	23	N/A	INTRINSIC
Blast:ZnF_UBP	46	91	1e-17	BLAST
low complexity region	115	133	N/A	INTRINSIC
ZnF_UBP	207	262	2.91e-20	SMART
low complexity region	624	638	N/A	INTRINSIC
UBA	651	689	1.25e-6	SMART
UBA	723	760	1.19e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172481
AA Change: M497L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000133823
Gene: ENSMUSG00000056900
AA Change: M497L

Domain	Start	End	E-Value	Type
low complexity region	12	23	N/A	INTRINSIC
Blast:ZnF_UBP	46	91	9e-18	BLAST
low complexity region	116	134	N/A	INTRINSIC
ZnF_UBP	208	263	2.91e-20	SMART
Pfam:UCH	333	523	5.1e-27	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	T	C	6: 48,932,545	F575L	possibly damaging	Het
4930562C15Rik	T	C	16: 4,849,325	W221R	unknown	Het
Ank2	A	G	3: 126,928,805	F1000L	possibly damaging	Het
Bahcc1	T	C	11: 120,268,300		probably benign	Het
BC024139	T	C	15: 76,120,320	M679V	probably benign	Het
BC027072	A	G	17: 71,750,271	S804P	probably benign	Het
Carmil2	A	G	8: 105,691,320		probably benign	Het
Catsperg2	A	G	7: 29,725,479		probably benign	Het
Chrnb4	A	T	9: 55,035,528	I154K	probably damaging	Het
Clec2e	A	C	6: 129,095,026	L130W	probably damaging	Het
Coro2b	G	T	9: 62,428,961	Y281*	probably null	Het
Dlk2	A	G	17: 46,302,977	Y386C	probably benign	Het
Dnah7a	A	T	1: 53,620,723	F709I	probably benign	Het
Exoc1	T	C	5: 76,559,007	L467P	probably damaging	Het
Fkbp2	A	G	19: 6,978,612	V75A	probably benign	Het
Glud1	T	C	14: 34,334,280	F304L	probably benign	Het
Gm11639	A	C	11: 105,106,404	E140A	probably damaging	Het
Gsr	T	A	8: 33,685,599	V291E	probably benign	Het
Kap	A	G	6: 133,851,800		probably benign	Het
Kmt2a	G	T	9: 44,848,392	T720N	probably damaging	Het
Lrrtm4	T	C	6: 80,022,088	I161T	probably benign	Het
Lyst	T	A	13: 13,656,881	L1630*	probably null	Het
Med13l	A	G	5: 118,747,445	S1488G	probably benign	Het
Mlxip	A	G	5: 123,440,061	K147E	probably damaging	Het
Nalcn	T	C	14: 123,321,487	E810G	possibly damaging	Het
Olfr474	T	C	7: 107,955,481	V280A	possibly damaging	Het
Olfr683	G	A	7: 105,144,266	S15F	probably benign	Het
Olfr710	A	G	7: 106,944,918	F28L	possibly damaging	Het
Piezo2	T	C	18: 63,011,538		probably benign	Het
Scgb2b7	A	T	7: 31,705,081	C65S	probably damaging	Het
Serpina3j	G	A	12: 104,319,701	A372T	possibly damaging	Het
Slc28a3	G	A	13: 58,574,249	Q274*	probably null	Het
Ssfa2	C	T	2: 79,643,471	R189*	probably null	Het
Stk36	T	C	1: 74,623,352	F543S	possibly damaging	Het
Tfrc	T	C	16: 32,630,112	S690P	probably damaging	Het
Tg	C	A	15: 66,683,798	Q780K	probably damaging	Het
Top1	T	A	2: 160,715,733	H578Q	probably damaging	Het
Treh	A	G	9: 44,685,337	T463A	possibly damaging	Het
Treml1	G	A	17: 48,365,988		probably benign	Het
Trpm2	A	G	10: 77,917,734	V1312A	probably benign	Het
Ttc41	T	A	10: 86,776,819	*1319K	probably null	Het
Tulp2	A	G	7: 45,521,858	I354M	probably damaging	Het
Ugt2b35	T	C	5: 87,007,395	L363P	probably damaging	Het
Virma	T	C	4: 11,527,669	S1187P	possibly damaging	Het
Wdr76	T	A	2: 121,542,470	C593S	probably damaging	Het
Zfp446	G	A	7: 12,979,325	A97T	probably damaging	Het

Other mutations in Usp13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:Usp13	APN	3	32881411	missense	probably damaging	0.98
IGL00949:Usp13	APN	3	32886577	missense	possibly damaging	0.57
IGL01637:Usp13	APN	3	32919064	missense	probably benign	0.02
IGL01983:Usp13	APN	3	32917459	missense	probably damaging	1.00
IGL02002:Usp13	APN	3	32847825	missense	probably damaging	0.97
IGL02065:Usp13	APN	3	32933165	missense	probably damaging	1.00
IGL02390:Usp13	APN	3	32931716	nonsense	probably null
IGL02399:Usp13	APN	3	32919060	missense	probably damaging	1.00
IGL02535:Usp13	APN	3	32837926	missense	probably benign	0.43
IGL02863:Usp13	APN	3	32918947	missense	possibly damaging	0.95
IGL03017:Usp13	APN	3	32915712	missense	possibly damaging	0.90
PIT4504001:Usp13	UTSW	3	32905430	missense	probably damaging	1.00
R0113:Usp13	UTSW	3	32817876	splice site	probably benign
R0233:Usp13	UTSW	3	32915664	splice site	probably null
R0233:Usp13	UTSW	3	32915664	splice site	probably null
R1241:Usp13	UTSW	3	32915708	missense	probably damaging	1.00
R1765:Usp13	UTSW	3	32915770	missense	probably benign	0.01
R2105:Usp13	UTSW	3	32901986	missense	probably damaging	0.97
R2229:Usp13	UTSW	3	32917551	missense	probably benign	0.02
R2381:Usp13	UTSW	3	32881509	critical splice donor site	probably null
R2389:Usp13	UTSW	3	32905464	missense	probably benign	0.16
R3801:Usp13	UTSW	3	32881508	missense	possibly damaging	0.75
R4062:Usp13	UTSW	3	32881423	missense	probably damaging	1.00
R4653:Usp13	UTSW	3	32837924	missense	probably damaging	0.99
R5123:Usp13	UTSW	3	32915798	missense	probably benign	0.03
R5454:Usp13	UTSW	3	32905436	missense	probably damaging	1.00
R5527:Usp13	UTSW	3	32865838	missense	probably damaging	1.00
R5582:Usp13	UTSW	3	32911589	missense	probably damaging	1.00
R5589:Usp13	UTSW	3	32837858	missense	probably damaging	1.00
R5829:Usp13	UTSW	3	32886523	missense	possibly damaging	0.68
R6114:Usp13	UTSW	3	32854669	missense	probably damaging	1.00
R6625:Usp13	UTSW	3	32894876	missense	probably damaging	0.98
R6680:Usp13	UTSW	3	32881469	missense	probably damaging	0.98
R7175:Usp13	UTSW	3	32917608	nonsense	probably null
R7232:Usp13	UTSW	3	32865871	missense	probably benign	0.05
R7242:Usp13	UTSW	3	32865743	splice site	probably null
R7263:Usp13	UTSW	3	32894851	missense	probably damaging	1.00
R7533:Usp13	UTSW	3	32918942	missense	probably damaging	0.99
R7716:Usp13	UTSW	3	32837856	nonsense	probably null
R7734:Usp13	UTSW	3	32837905	missense	probably benign	0.13
R7943:Usp13	UTSW	3	32876940	missense	probably damaging	1.00
R8075:Usp13	UTSW	3	32931703	missense	probably damaging	1.00
R8141:Usp13	UTSW	3	32894876	missense	possibly damaging	0.52
R8259:Usp13	UTSW	3	32917599	nonsense	probably null
R8722:Usp13	UTSW	3	32901965	missense	probably benign	0.00
R8905:Usp13	UTSW	3	32881423	missense	probably damaging	1.00
R9060:Usp13	UTSW	3	32911663	critical splice donor site	probably null
R9081:Usp13	UTSW	3	32881393	missense	probably benign	0.00
X0064:Usp13	UTSW	3	32886589	critical splice donor site	probably null

Posted On

2016-08-02