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

Dub1a

MMRRC Submission

044263-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R6114 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104489464-104491790 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104489571 bp (GRCm39)

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: 68,809,252 (GRCm39)	V237L	probably benign	Het
Aff1	T	C	5: 103,990,163 (GRCm39)	S878P	probably damaging	Het
Ahcy	A	C	2: 154,904,079 (GRCm39)	L386R	probably damaging	Het
Ank2	T	C	3: 126,804,700 (GRCm39)	N607D	probably damaging	Het
Arid5b	T	C	10: 67,933,574 (GRCm39)	D776G	possibly damaging	Het
Art4	T	A	6: 136,834,211 (GRCm39)	T11S	unknown	Het
Blm	T	C	7: 80,163,235 (GRCm39)	T39A	probably damaging	Het
Cabin1	T	A	10: 75,583,805 (GRCm39)	M221L	probably benign	Het
Cacna1c	T	C	6: 118,573,101 (GRCm39)	T1675A	probably benign	Het
Cacnb2	A	T	2: 14,980,012 (GRCm39)	H285L	possibly damaging	Het
Cchcr1	A	G	17: 35,836,227 (GRCm39)	E339G	probably damaging	Het
Cd14	A	G	18: 36,859,006 (GRCm39)	W150R	probably damaging	Het
Cep162	A	G	9: 87,085,763 (GRCm39)	I1187T	probably benign	Het
Cntnap4	A	G	8: 113,568,385 (GRCm39)	H807R	probably damaging	Het
Copb1	T	A	7: 113,846,036 (GRCm39)	H178L	probably benign	Het
Cpxm2	A	G	7: 131,756,035 (GRCm39)	V103A	probably benign	Het
Egfr	A	G	11: 16,854,374 (GRCm39)	T849A	possibly damaging	Het
Endou	T	A	15: 97,611,757 (GRCm39)	K294*	probably null	Het
Hoxd9	A	G	2: 74,529,709 (GRCm39)	N322D	probably damaging	Het
Hsph1	C	A	5: 149,550,852 (GRCm39)	V416L	possibly damaging	Het
Igkv4-78	T	A	6: 69,036,743 (GRCm39)	T97S	possibly damaging	Het
Itga10	G	T	3: 96,556,351 (GRCm39)	C162F	probably damaging	Het
Lmod2	A	G	6: 24,603,691 (GRCm39)	E222G	probably damaging	Het
Lpar5	A	G	6: 125,058,639 (GRCm39)	N120S	probably damaging	Het
Lrrc37	T	A	11: 103,508,617 (GRCm39)		probably benign	Het
Lrrk2	A	G	15: 91,632,029 (GRCm39)	I1318V	probably benign	Het
Lst1	T	C	17: 35,407,336 (GRCm39)	T11A	possibly damaging	Het
Mfn1	C	A	3: 32,617,985 (GRCm39)	A106D	probably damaging	Het
Ms4a12	G	T	19: 11,192,654 (GRCm39)	N227K	probably benign	Het
Nr1h4	T	A	10: 89,314,678 (GRCm39)	N273Y	possibly damaging	Het
Nrdc	A	T	4: 108,901,782 (GRCm39)	K617M	probably damaging	Het
Or10a3b	A	T	7: 108,444,593 (GRCm39)	M208K	possibly damaging	Het
Or1l8	A	T	2: 36,817,701 (GRCm39)	C142S	possibly damaging	Het
Or6c202	T	A	10: 128,996,202 (GRCm39)	H217L	probably benign	Het
Pcdhgc3	C	G	18: 37,940,925 (GRCm39)	T442R	probably benign	Het
Pcnx2	T	C	8: 126,500,686 (GRCm39)	N1468S	probably damaging	Het
Pde2a	A	T	7: 101,160,319 (GRCm39)		probably null	Het
Pitx2	C	G	3: 128,998,062 (GRCm39)		probably null	Het
Reck	T	A	4: 43,922,895 (GRCm39)	I390N	probably damaging	Het
Rora	A	G	9: 69,278,605 (GRCm39)	N254S	probably benign	Het
Samd4b	A	G	7: 28,222,217 (GRCm39)		probably null	Het
Scn8a	A	G	15: 100,938,477 (GRCm39)	T1949A	probably damaging	Het
Slc22a15	A	T	3: 101,768,168 (GRCm39)	Y346*	probably null	Het
Slc24a5	A	G	2: 124,925,012 (GRCm39)	T218A	probably benign	Het
Slc38a10	G	A	11: 120,020,138 (GRCm39)	Q305*	probably null	Het
Slc45a4	G	A	15: 73,477,453 (GRCm39)	P28S	probably damaging	Het
Smyd5	A	T	6: 85,417,244 (GRCm39)		probably benign	Het
Sox8	T	C	17: 25,786,494 (GRCm39)	D403G	probably damaging	Het
Stx7	A	G	10: 24,060,883 (GRCm39)		probably null	Het
Svil	T	C	18: 5,108,639 (GRCm39)	S1522P	probably damaging	Het
Sycp2	G	C	2: 177,990,038 (GRCm39)	R1403G	probably benign	Het
Tasor2	G	A	13: 3,640,081 (GRCm39)	T352M	probably damaging	Het
Tcf25	A	T	8: 124,111,114 (GRCm39)	K192M	probably damaging	Het
Tecpr1	C	T	5: 144,141,458 (GRCm39)	G804S	possibly damaging	Het
Teddm1a	C	G	1: 153,767,614 (GRCm39)	S26C	probably damaging	Het
Usp13	C	T	3: 32,908,818 (GRCm39)	P155S	probably damaging	Het
Vmn1r173	A	G	7: 23,402,254 (GRCm39)	N163S	possibly damaging	Het
Vmn2r103	G	T	17: 20,032,587 (GRCm39)	C787F	probably damaging	Het
Vmn2r106	G	A	17: 20,488,638 (GRCm39)	P587L	probably benign	Het
Wdr24	C	T	17: 26,043,579 (GRCm39)	H134Y	probably benign	Het
Zbtb40	T	A	4: 136,716,002 (GRCm39)	I988F	probably damaging	Het
Zbtb47	T	A	9: 121,594,661 (GRCm39)	F540Y	probably damaging	Het
Zfp536	A	T	7: 37,179,161 (GRCm39)	I84N	probably damaging	Het

Other mutations in Usp17lb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01559:Usp17lb	APN	7	104,490,436 (GRCm39)	missense	probably damaging	0.98
IGL01571:Usp17lb	APN	7	104,489,588 (GRCm39)	missense	possibly damaging	0.59
IGL01624:Usp17lb	APN	7	104,491,720 (GRCm39)	utr 5 prime	probably benign
IGL02582:Usp17lb	APN	7	104,489,937 (GRCm39)	missense	probably damaging	1.00
IGL03193:Usp17lb	APN	7	104,490,484 (GRCm39)	missense	possibly damaging	0.46
R0399:Usp17lb	UTSW	7	104,490,358 (GRCm39)	missense	possibly damaging	0.81
R0420:Usp17lb	UTSW	7	104,489,746 (GRCm39)	missense	probably benign
R1202:Usp17lb	UTSW	7	104,491,695 (GRCm39)	missense	probably damaging	0.98
R1628:Usp17lb	UTSW	7	104,490,048 (GRCm39)	missense	probably damaging	1.00
R2085:Usp17lb	UTSW	7	104,489,622 (GRCm39)	missense	possibly damaging	0.73
R2214:Usp17lb	UTSW	7	104,490,639 (GRCm39)	missense	probably benign	0.36
R2283:Usp17lb	UTSW	7	104,489,859 (GRCm39)	missense	possibly damaging	0.68
R2866:Usp17lb	UTSW	7	104,489,955 (GRCm39)	missense	probably damaging	1.00
R3433:Usp17lb	UTSW	7	104,490,855 (GRCm39)	missense	possibly damaging	0.89
R5004:Usp17lb	UTSW	7	104,490,884 (GRCm39)	missense	probably benign	0.00
R5090:Usp17lb	UTSW	7	104,490,290 (GRCm39)	missense	probably benign	0.06
R5143:Usp17lb	UTSW	7	104,490,685 (GRCm39)	missense	probably damaging	1.00
R5366:Usp17lb	UTSW	7	104,489,615 (GRCm39)	missense	possibly damaging	0.95
R5568:Usp17lb	UTSW	7	104,490,415 (GRCm39)	missense	probably damaging	1.00
R5605:Usp17lb	UTSW	7	104,489,847 (GRCm39)	missense	probably benign	0.00
R5647:Usp17lb	UTSW	7	104,489,881 (GRCm39)	missense	possibly damaging	0.92
R5981:Usp17lb	UTSW	7	104,490,394 (GRCm39)	missense	probably damaging	1.00
R5999:Usp17lb	UTSW	7	104,489,552 (GRCm39)	missense	probably damaging	0.99
R6185:Usp17lb	UTSW	7	104,490,631 (GRCm39)	missense	probably benign	0.22
R6279:Usp17lb	UTSW	7	104,489,898 (GRCm39)	missense	probably damaging	1.00
R6300:Usp17lb	UTSW	7	104,489,898 (GRCm39)	missense	probably damaging	1.00
R6891:Usp17lb	UTSW	7	104,490,307 (GRCm39)	missense	probably benign	0.02
R7000:Usp17lb	UTSW	7	104,490,492 (GRCm39)	missense	probably damaging	1.00
R7137:Usp17lb	UTSW	7	104,490,798 (GRCm39)	missense	probably benign	0.15
R7318:Usp17lb	UTSW	7	104,490,340 (GRCm39)	missense	probably benign	0.03
R7372:Usp17lb	UTSW	7	104,490,913 (GRCm39)	splice site	probably null
R7809:Usp17lb	UTSW	7	104,490,420 (GRCm39)	missense	probably damaging	1.00
R7834:Usp17lb	UTSW	7	104,490,718 (GRCm39)	missense	probably damaging	1.00
R8008:Usp17lb	UTSW	7	104,490,481 (GRCm39)	missense	possibly damaging	0.82
R8283:Usp17lb	UTSW	7	104,490,013 (GRCm39)	missense	probably damaging	0.98
R8385:Usp17lb	UTSW	7	104,489,830 (GRCm39)	missense	possibly damaging	0.82
R8942:Usp17lb	UTSW	7	104,490,583 (GRCm39)	missense	possibly damaging	0.49
R8996:Usp17lb	UTSW	7	104,490,889 (GRCm39)	missense	probably benign	0.17
R9598:Usp17lb	UTSW	7	104,489,718 (GRCm39)	missense	probably benign	0.07
R9697:Usp17lb	UTSW	7	104,490,495 (GRCm39)	missense	possibly damaging	0.69
X0021:Usp17lb	UTSW	7	104,490,523 (GRCm39)	missense	probably damaging	1.00
Z1088:Usp17lb	UTSW	7	104,490,336 (GRCm39)	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