Mutagenetix > Incidental Mutation

Incidental Mutation 'R6114:Usp17lb'

485019

Institutional Source

Beutler Lab

Gene Symbol

Usp17lb

Ensembl Gene

ENSMUSG00000062369

Gene Name

ubiquitin specific peptidase 17-like B

Synonyms

MMRRC Submission

044263-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R6114 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104840257-104842603 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104840364 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 451 (D451V)

Ref Sequence

ENSEMBL: ENSMUSP00000102427 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076501] [ENSMUST00000106814]

AlphaFold

E9Q9U0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076501
AA Change: D452V

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000075822
Gene: ENSMUSG00000062369
AA Change: D452V

Domain	Start	End	E-Value	Type
Pfam:UCH	50	345	3.2e-55	PFAM
Pfam:UCH_1	51	327	6.8e-26	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106814
AA Change: D451V

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102427
Gene: ENSMUSG00000062369
AA Change: D451V

Domain	Start	End	E-Value	Type
Pfam:UCH	49	344	2.3e-61	PFAM
Pfam:UCH_1	50	326	1.5e-30	PFAM

Meta Mutation Damage Score

0.1795

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
Usp13	C	T	3: 32,854,669	P155S	probably 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 Usp17lb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01559:Usp17lb	APN	7	104841229	missense	probably damaging	0.98
IGL01571:Usp17lb	APN	7	104840381	missense	possibly damaging	0.59
IGL01624:Usp17lb	APN	7	104842513	utr 5 prime	probably benign
IGL02582:Usp17lb	APN	7	104840730	missense	probably damaging	1.00
IGL03193:Usp17lb	APN	7	104841277	missense	possibly damaging	0.46
R0399:Usp17lb	UTSW	7	104841151	missense	possibly damaging	0.81
R0420:Usp17lb	UTSW	7	104840539	missense	probably benign
R1202:Usp17lb	UTSW	7	104842488	missense	probably damaging	0.98
R1628:Usp17lb	UTSW	7	104840841	missense	probably damaging	1.00
R2085:Usp17lb	UTSW	7	104840415	missense	possibly damaging	0.73
R2214:Usp17lb	UTSW	7	104841432	missense	probably benign	0.36
R2283:Usp17lb	UTSW	7	104840652	missense	possibly damaging	0.68
R2866:Usp17lb	UTSW	7	104840748	missense	probably damaging	1.00
R3433:Usp17lb	UTSW	7	104841648	missense	possibly damaging	0.89
R5004:Usp17lb	UTSW	7	104841677	missense	probably benign	0.00
R5090:Usp17lb	UTSW	7	104841083	missense	probably benign	0.06
R5143:Usp17lb	UTSW	7	104841478	missense	probably damaging	1.00
R5366:Usp17lb	UTSW	7	104840408	missense	possibly damaging	0.95
R5568:Usp17lb	UTSW	7	104841208	missense	probably damaging	1.00
R5605:Usp17lb	UTSW	7	104840640	missense	probably benign	0.00
R5647:Usp17lb	UTSW	7	104840674	missense	possibly damaging	0.92
R5981:Usp17lb	UTSW	7	104841187	missense	probably damaging	1.00
R5999:Usp17lb	UTSW	7	104840345	missense	probably damaging	0.99
R6185:Usp17lb	UTSW	7	104841424	missense	probably benign	0.22
R6279:Usp17lb	UTSW	7	104840691	missense	probably damaging	1.00
R6300:Usp17lb	UTSW	7	104840691	missense	probably damaging	1.00
R6891:Usp17lb	UTSW	7	104841100	missense	probably benign	0.02
R7000:Usp17lb	UTSW	7	104841285	missense	probably damaging	1.00
R7137:Usp17lb	UTSW	7	104841591	missense	probably benign	0.15
R7318:Usp17lb	UTSW	7	104841133	missense	probably benign	0.03
R7372:Usp17lb	UTSW	7	104841706	splice site	probably null
R7809:Usp17lb	UTSW	7	104841213	missense	probably damaging	1.00
R7834:Usp17lb	UTSW	7	104841511	missense	probably damaging	1.00
R8008:Usp17lb	UTSW	7	104841274	missense	possibly damaging	0.82
R8283:Usp17lb	UTSW	7	104840806	missense	probably damaging	0.98
R8385:Usp17lb	UTSW	7	104840623	missense	possibly damaging	0.82
R8942:Usp17lb	UTSW	7	104841376	missense	possibly damaging	0.49
R8996:Usp17lb	UTSW	7	104841682	missense	probably benign	0.17
R9598:Usp17lb	UTSW	7	104840511	missense	probably benign	0.07
R9697:Usp17lb	UTSW	7	104841288	missense	possibly damaging	0.69
X0021:Usp17lb	UTSW	7	104841316	missense	probably damaging	1.00
Z1088:Usp17lb	UTSW	7	104841129	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TTCCAGGAGTTGCTGGAGAG -3'
(R):5'- CCCTTGCACAGAAGATGCAG -3'

Sequencing Primer
(F):5'- TTGCTGGAGAGGATATACAGACCTC -3'
(R):5'- GGAGAGCCCTGCGAAAAC -3'

Posted On

2017-08-16