Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00499:Usp13'

6915

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 #

IGL00499

Quality Score

Status

Chromosome

Chromosomal Location

32817546-32938071 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32881411 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 328 (Y328N)

Ref Sequence

ENSEMBL: ENSMUSP00000103863 (fasta)

Gene Model

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

AlphaFold

Q5BKP2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072312
AA Change: Y329N

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000072155
Gene: ENSMUSG00000056900
AA Change: Y329N

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 damaging
Transcript: ENSMUST00000108228
AA Change: Y328N

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103863
Gene: ENSMUSG00000056900
AA Change: Y328N

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

noncoding transcript
Transcript: ENSMUST00000119937

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172481
AA Change: Y329N

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133823
Gene: ENSMUSG00000056900
AA Change: Y329N

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533K18Rik	C	A	10: 70,875,308		noncoding transcript	Het
Abcb9	T	C	5: 124,077,238	D480G	possibly damaging	Het
Adam26a	A	T	8: 43,568,859	N531K	possibly damaging	Het
AW554918	A	T	18: 25,420,065	K542*	probably null	Het
Blk	A	G	14: 63,380,720	F246L	probably damaging	Het
Camk1	T	C	6: 113,336,211	E292G	probably benign	Het
Ccdc88a	C	T	11: 29,499,341	T261I	probably benign	Het
Cep290	A	T	10: 100,543,327	Q57L	probably damaging	Het
Cpsf1	A	T	15: 76,600,216	H688Q	probably benign	Het
Cryz	T	C	3: 154,604,942	V13A	possibly damaging	Het
Dst	A	G	1: 34,290,423	K6858R	probably damaging	Het
Dync2h1	A	T	9: 7,168,700	V371E	possibly damaging	Het
Eps8	C	A	6: 137,522,888	E181*	probably null	Het
Flt4	T	C	11: 49,635,261	I796T	probably damaging	Het
Gmps	A	G	3: 64,014,367	N597S	probably benign	Het
Itgav	T	A	2: 83,802,995	M1011K	probably damaging	Het
Kif16b	A	G	2: 142,857,324	M112T	probably damaging	Het
Lig1	T	C	7: 13,298,830		probably null	Het
Lrrc30	A	G	17: 67,632,039	F182S	probably damaging	Het
Oxsm	A	T	14: 16,242,076	M231K	probably damaging	Het
Pnisr	T	C	4: 21,870,407		probably null	Het
Rsrc1	A	T	3: 67,082,600		probably benign	Het
Setd1b	A	T	5: 123,158,747		probably benign	Het
Tbx6	A	G	7: 126,781,529	Y8C	probably damaging	Het
Tmem33	T	C	5: 67,284,195	Y196H	probably damaging	Het
Traf5	T	C	1: 192,057,174	D96G	possibly damaging	Het
Tsc22d1	T	A	14: 76,418,917	D945E	probably damaging	Het
Tubb2b	T	C	13: 34,128,346	I155V	probably benign	Het
Usp17lc	G	A	7: 103,418,466	D323N	probably damaging	Het
Usp17lc	G	A	7: 103,418,465	M322I	probably damaging	Het
Zfp341	C	T	2: 154,634,231	T446I	probably damaging	Het
Zfp407	A	G	18: 84,561,752	L412P	probably damaging	Het
Zfp521	T	A	18: 13,939,120	D21V	probably benign	Het
Zranb1	A	G	7: 132,982,504		probably benign	Het

Other mutations in Usp13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL03242:Usp13	APN	3	32902069	missense	probably benign	0.17
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
R9260:Usp13	UTSW	3	32901760	intron	probably benign
R9576:Usp13	UTSW	3	32914986	critical splice acceptor site	probably null
X0064:Usp13	UTSW	3	32886589	critical splice donor site	probably null

Posted On

2012-04-20