Mutagenetix > Incidental Mutations

Incidental Mutation 'R5605:Usp17lb'

439246

Institutional Source

Beutler Lab

Gene Symbol

Usp17lb

Ensembl Gene

ENSMUSG00000062369

Gene Name

ubiquitin specific peptidase 17-like B

Synonyms

MMRRC Submission

043270-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R5605 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104840257-104842603 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104840640 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 359 (E359G)

Ref Sequence

ENSEMBL: ENSMUSP00000102427 (fasta)

Gene Model

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

AlphaFold

E9Q9U0

Predicted Effect

probably benign
Transcript: ENSMUST00000076501
AA Change: E360G

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

SMART Domains

Protein: ENSMUSP00000075822
Gene: ENSMUSG00000062369
AA Change: E360G

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

probably benign
Transcript: ENSMUST00000106814
AA Change: E359G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000102427
Gene: ENSMUSG00000062369
AA Change: E359G

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l2	C	A	18: 67,442,355	G83*	probably null	Het
Arap2	A	T	5: 62,615,067	M1476K	possibly damaging	Het
Catsper2	G	A	2: 121,397,052	R546C	possibly damaging	Het
Ccdc109b	T	C	3: 129,917,009	E258G	probably damaging	Het
Ceacam5	T	C	7: 17,747,236	F303L	probably benign	Het
Clvs1	A	G	4: 9,281,751	D65G	probably damaging	Het
Coq5	T	C	5: 115,283,717		probably null	Het
D630045J12Rik	A	T	6: 38,191,764	V950E	probably damaging	Het
Dennd4b	G	A	3: 90,268,368	R148Q	probably damaging	Het
Dnah7c	A	G	1: 46,798,235	D3936G	possibly damaging	Het
Doc2b	T	C	11: 75,771,960	E404G	probably damaging	Het
Dsg1b	C	T	18: 20,399,539	P547S	probably benign	Het
Erich6	A	G	3: 58,625,119	Y356H	probably damaging	Het
Galnt6	C	T	15: 100,697,225	R465Q	probably damaging	Het
Gbp5	T	C	3: 142,501,276	S69P	probably damaging	Het
Gdpd4	T	C	7: 98,006,300	V562A	probably benign	Het
Gm2075	T	A	12: 88,011,998	C51S	probably damaging	Het
Gm340	T	A	19: 41,582,863	I165N	probably damaging	Het
Greb1	A	T	12: 16,708,726	V663D	probably damaging	Het
Gtf3c3	A	T	1: 54,415,926	S593T	probably benign	Het
H2-Eb1	T	C	17: 34,309,833	S113P	probably benign	Het
Herc3	C	T	6: 58,857,727	R240C	probably damaging	Het
Iqub	T	C	6: 24,505,621	D96G	probably benign	Het
Kcnt2	A	T	1: 140,574,743	E858D	possibly damaging	Het
Lrp2	C	T	2: 69,523,299	R539K	probably damaging	Het
Lrrc10	C	A	10: 117,045,900	P160T	probably damaging	Het
Map3k12	G	T	15: 102,503,865	D280E	probably benign	Het
Mdn1	T	C	4: 32,765,664	S5208P	probably benign	Het
Med20	C	A	17: 47,623,144		probably benign	Het
Mertk	T	C	2: 128,738,307	V227A	probably benign	Het
Mrvi1	C	T	7: 110,946,002	C29Y	possibly damaging	Het
Ncstn	A	G	1: 172,081,150		probably benign	Het
Nedd4l	T	C	18: 65,174,244		probably null	Het
Nfyc	A	G	4: 120,790,489		probably benign	Het
Npdc1	G	A	2: 25,408,945	D284N	probably damaging	Het
Nt5dc1	C	T	10: 34,403,695	C117Y	probably benign	Het
Nup88	A	T	11: 70,944,070		probably benign	Het
Olfr5	C	T	7: 6,480,326	V277M	probably benign	Het
Pbrm1	T	A	14: 31,035,992	I193K	probably benign	Het
Pcsk2	T	C	2: 143,749,245		probably benign	Het
Pdzd2	A	T	15: 12,592,350	C69*	probably null	Het
Polr1e	A	G	4: 45,018,723	T18A	probably benign	Het
Prima1	T	A	12: 103,199,904	I124F	probably benign	Het
Rbm34	T	C	8: 126,949,419	K382R	probably benign	Het
Rftn1	T	G	17: 50,047,407	N309T	probably damaging	Het
Sept1	C	T	7: 127,215,426	D260N	probably damaging	Het
Serpina3g	T	C	12: 104,241,040	V154A	probably damaging	Het
Spef2	A	T	15: 9,609,520	N1306K	probably damaging	Het
Stk4	T	C	2: 164,079,566	F29S	probably damaging	Het
Stxbp5	A	G	10: 9,769,746		probably benign	Het
Tbl3	T	C	17: 24,700,759	T774A	probably benign	Het
Tinag	A	G	9: 77,045,412	Y97H	probably damaging	Het
Tpm1	T	C	9: 67,049,035	E33G	probably damaging	Het
Vmn2r91	A	G	17: 18,136,501	E810G	probably damaging	Het
Vwce	A	T	19: 10,658,038	T633S	possibly damaging	Het
Ylpm1	G	A	12: 85,028,853	R326H	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
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
R6114:Usp17lb	UTSW	7	104840364	missense	possibly damaging	0.87
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
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'- AGTATTCCTGAGGTTCTGCCC -3'
(R):5'- GTGCAACTTGTCACAGTGGAC -3'

Sequencing Primer
(F):5'- CTGTTCCTGAGGCGTGAG -3'
(R):5'- GTGCAACTTGTCACAGTGGACATTAC -3'

Posted On

2016-10-26