Mutagenetix > Incidental Mutation

Incidental Mutation 'R6114:Usp13'

484998

Institutional Source

Beutler Lab

Gene Symbol

Usp13

Ensembl Gene

ENSMUSG00000056900

Gene Name

ubiquitin specific peptidase 13 (isopeptidase T-3)

Synonyms

ISOT3, 2700071E21Rik, IsoT-3

MMRRC Submission

044263-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6114 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32817546-32938071 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 32854669 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 155 (P155S)

Ref Sequence

ENSEMBL: ENSMUSP00000133823 (fasta)

Gene Model

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

AlphaFold

Q5BKP2

Predicted Effect

probably damaging
Transcript: ENSMUST00000072312
AA Change: P155S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000072155
Gene: ENSMUSG00000056900
AA Change: P155S

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: P154S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103863
Gene: ENSMUSG00000056900
AA Change: P154S

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 damaging
Transcript: ENSMUST00000172481
AA Change: P155S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133823
Gene: ENSMUSG00000056900
AA Change: P155S

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

Meta Mutation Damage Score

0.4417

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

94% (60/64)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	C	A	14: 68,571,803	V237L	probably benign	Het
Aff1	T	C	5: 103,842,297	S878P	probably damaging	Het
Ahcy	A	C	2: 155,062,159	L386R	probably damaging	Het
Ank2	T	C	3: 127,011,051	N607D	probably damaging	Het
Arid5b	T	C	10: 68,097,744	D776G	possibly damaging	Het
Art4	T	A	6: 136,857,213	T11S	unknown	Het
Blm	T	C	7: 80,513,487	T39A	probably damaging	Het
Cabin1	T	A	10: 75,747,971	M221L	probably benign	Het
Cacna1c	T	C	6: 118,596,140	T1675A	probably benign	Het
Cacnb2	A	T	2: 14,975,201	H285L	possibly damaging	Het
Cchcr1	A	G	17: 35,525,330	E339G	probably damaging	Het
Cd14	A	G	18: 36,725,953	W150R	probably damaging	Het
Cep162	A	G	9: 87,203,710	I1187T	probably benign	Het
Cntnap4	A	G	8: 112,841,753	H807R	probably damaging	Het
Copb1	T	A	7: 114,246,801	H178L	probably benign	Het
Cpxm2	A	G	7: 132,154,306	V103A	probably benign	Het
Egfr	A	G	11: 16,904,374	T849A	possibly damaging	Het
Endou	T	A	15: 97,713,876	K294*	probably null	Het
Fam208b	G	A	13: 3,590,081	T352M	probably damaging	Het
Gm884	T	A	11: 103,617,791		probably benign	Het
Hoxd9	A	G	2: 74,699,365	N322D	probably damaging	Het
Hsph1	C	A	5: 149,627,387	V416L	possibly damaging	Het
Igkv4-78	T	A	6: 69,059,759	T97S	possibly damaging	Het
Itga10	G	T	3: 96,649,035	C162F	probably damaging	Het
Lmod2	A	G	6: 24,603,692	E222G	probably damaging	Het
Lpar5	A	G	6: 125,081,676	N120S	probably damaging	Het
Lrrk2	A	G	15: 91,747,826	I1318V	probably benign	Het
Lst1	T	C	17: 35,188,360	T11A	possibly damaging	Het
Mfn1	C	A	3: 32,563,836	A106D	probably damaging	Het
Ms4a12	G	T	19: 11,215,290	N227K	probably benign	Het
Nr1h4	T	A	10: 89,478,816	N273Y	possibly damaging	Het
Nrd1	A	T	4: 109,044,585	K617M	probably damaging	Het
Olfr355	A	T	2: 36,927,689	C142S	possibly damaging	Het
Olfr516	A	T	7: 108,845,386	M208K	possibly damaging	Het
Olfr771	T	A	10: 129,160,333	H217L	probably benign	Het
Pcdhgc3	C	G	18: 37,807,872	T442R	probably benign	Het
Pcnx2	T	C	8: 125,773,947	N1468S	probably damaging	Het
Pde2a	A	T	7: 101,511,112		probably null	Het
Pitx2	C	G	3: 129,204,413		probably null	Het
Reck	T	A	4: 43,922,895	I390N	probably damaging	Het
Rora	A	G	9: 69,371,323	N254S	probably benign	Het
Samd4b	A	G	7: 28,522,792		probably null	Het
Scn8a	A	G	15: 101,040,596	T1949A	probably damaging	Het
Slc22a15	A	T	3: 101,860,852	Y346*	probably null	Het
Slc24a5	A	G	2: 125,083,092	T218A	probably benign	Het
Slc38a10	G	A	11: 120,129,312	Q305*	probably null	Het
Slc45a4	G	A	15: 73,605,604	P28S	probably damaging	Het
Smyd5	A	T	6: 85,440,262		probably benign	Het
Sox8	T	C	17: 25,567,520	D403G	probably damaging	Het
Stx7	A	G	10: 24,184,985		probably null	Het
Svil	T	C	18: 5,108,639	S1522P	probably damaging	Het
Sycp2	G	C	2: 178,348,245	R1403G	probably benign	Het
Tcf25	A	T	8: 123,384,375	K192M	probably damaging	Het
Tecpr1	C	T	5: 144,204,640	G804S	possibly damaging	Het
Teddm1a	C	G	1: 153,891,868	S26C	probably damaging	Het
Usp17lb	T	A	7: 104,840,364	D451V	possibly damaging	Het
Vmn1r173	A	G	7: 23,702,829	N163S	possibly damaging	Het
Vmn2r103	G	T	17: 19,812,325	C787F	probably damaging	Het
Vmn2r106	G	A	17: 20,268,376	P587L	probably benign	Het
Wdr24	C	T	17: 25,824,605	H134Y	probably benign	Het
Zbtb40	T	A	4: 136,988,691	I988F	probably damaging	Het
Zfp536	A	T	7: 37,479,736	I84N	probably damaging	Het
Zfp651	T	A	9: 121,765,595	F540Y	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTAGCCCTGTGGATTCCCTG -3'
(R):5'- TCGCAGAGGAGACTGATATCC -3'

Sequencing Primer
(F):5'- CCCTGTGGATTCCCTGTGAGG -3'
(R):5'- GAGGAGACTGATATCCCTGTTCAC -3'

Posted On

2017-08-16