Mutagenetix > Incidental Mutation

Incidental Mutation 'R7997:Usp17le'

616143

Institutional Source

Beutler Lab

Gene Symbol

Usp17le

Ensembl Gene

ENSMUSG00000043073

Gene Name

ubiquitin specific peptidase 17-like E

Synonyms

Gm6596, Dub3

MMRRC Submission

046037-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R7997 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104417256-104426677 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104418046 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 365 (D365E)

Ref Sequence

ENSEMBL: ENSMUSP00000147776 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053464] [ENSMUST00000211384]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053464
AA Change: D365E

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000051716
Gene: ENSMUSG00000043073
AA Change: D365E

Domain	Start	End	E-Value	Type
Pfam:UCH	84	379	9e-54	PFAM
Pfam:UCH_1	85	362	2.3e-21	PFAM
low complexity region	408	417	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211384
AA Change: D365E

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024B05Rik	G	A	14: 41,766,209 (GRCm39)		probably benign	Het
Abra	A	C	15: 41,729,593 (GRCm39)	M269R	probably damaging	Het
Atp6v0e2	A	G	6: 48,514,718 (GRCm39)	I12V	probably benign	Het
Bicral	T	A	17: 47,112,534 (GRCm39)	I889F	probably benign	Het
Cabin1	A	G	10: 75,569,609 (GRCm39)	V826A	probably benign	Het
Casq2	A	T	3: 101,994,158 (GRCm39)	K68N	probably damaging	Het
Cdh23	C	A	10: 60,432,518 (GRCm39)	Q135H	possibly damaging	Het
Chn2	A	T	6: 54,267,270 (GRCm39)	H253L	probably damaging	Het
Dnajc22	A	G	15: 98,999,514 (GRCm39)	E233G	probably damaging	Het
Fbxo6	A	G	4: 148,231,852 (GRCm39)	S96P	possibly damaging	Het
Gimap6	G	T	6: 48,679,249 (GRCm39)	N262K	probably damaging	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Grid2	C	A	6: 64,297,120 (GRCm39)	H494Q	possibly damaging	Het
Hmgcl	T	A	4: 135,687,320 (GRCm39)	Y198*	probably null	Het
Hmgxb4	A	T	8: 75,727,956 (GRCm39)	Y313F	probably damaging	Het
Hr	G	A	14: 70,801,043 (GRCm39)	W676*	probably null	Het
Insc	A	G	7: 114,444,372 (GRCm39)	D453G	probably damaging	Het
Iqub	T	C	6: 24,501,413 (GRCm39)	N179S	possibly damaging	Het
Kdm3b	T	A	18: 34,941,336 (GRCm39)	S276T	probably benign	Het
Kmt2a	C	A	9: 44,745,220 (GRCm39)	K1597N	unknown	Het
Kntc1	T	C	5: 123,916,117 (GRCm39)	V682A	probably damaging	Het
Mcm9	T	A	10: 53,473,502 (GRCm39)		probably benign	Het
Med30	T	C	15: 52,593,467 (GRCm39)	L149P	probably damaging	Het
Mmd2	T	A	5: 142,560,615 (GRCm39)	H102L	possibly damaging	Het
Mtres1	T	C	10: 43,401,356 (GRCm39)	T198A	probably benign	Het
Mybph	G	A	1: 134,122,405 (GRCm39)	R150H	probably damaging	Het
Ndufaf4	A	G	4: 24,901,919 (GRCm39)	T156A	probably benign	Het
Or2g1	T	A	17: 38,107,053 (GRCm39)	C239*	probably null	Het
Pecr	T	A	1: 72,315,475 (GRCm39)	K92*	probably null	Het
Pithd1	T	C	4: 135,703,723 (GRCm39)	T207A	probably benign	Het
Prdm10	T	A	9: 31,264,721 (GRCm39)	C719S	probably damaging	Het
Rasef	C	A	4: 73,658,799 (GRCm39)	W316L	possibly damaging	Het
Robo1	T	C	16: 72,701,581 (GRCm39)	V149A	probably damaging	Het
Ryr1	A	T	7: 28,702,968 (GRCm39)	V5034D	unknown	Het
Slc26a10	A	G	10: 127,009,178 (GRCm39)	V661A	possibly damaging	Het
Slc30a8	T	G	15: 52,189,081 (GRCm39)	I232S	possibly damaging	Het
Smg1	A	G	7: 117,772,364 (GRCm39)	F1464L	unknown	Het
Smg1	A	C	7: 117,772,365 (GRCm39)	H1463Q	unknown	Het
Spata1	G	A	3: 146,182,035 (GRCm39)	A245V	probably benign	Het
St8sia1	C	T	6: 142,909,376 (GRCm39)	C40Y	probably damaging	Het
Strn	T	C	17: 78,991,672 (GRCm39)	T216A	probably benign	Het
Tecpr2	G	A	12: 110,900,037 (GRCm39)	E802K	probably benign	Het
Tenm4	A	G	7: 96,523,512 (GRCm39)	I1685V	probably benign	Het
Tyw5	T	C	1: 57,427,683 (GRCm39)	D307G	probably benign	Het
Vmn1r13	T	G	6: 57,187,329 (GRCm39)	S163A	possibly damaging	Het
Vmn1r75	A	T	7: 11,614,600 (GRCm39)	T111S	probably damaging	Het
Wdr95	G	T	5: 149,502,622 (GRCm39)		probably null	Het
Zfp292	G	A	4: 34,808,688 (GRCm39)	P1457L	probably damaging	Het
Zfp606	T	A	7: 12,223,519 (GRCm39)	V10E	probably damaging	Het
Zfp606	T	C	7: 12,228,134 (GRCm39)	S752P	possibly damaging	Het
Zscan29	T	G	2: 120,991,221 (GRCm39)	S856R	probably benign	Het

Other mutations in Usp17le

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00582:Usp17le	APN	7	104,417,994 (GRCm39)	missense	probably benign	0.00
IGL01974:Usp17le	APN	7	104,417,642 (GRCm39)	missense	probably benign
IGL02364:Usp17le	APN	7	104,417,982 (GRCm39)	nonsense	probably null
IGL02413:Usp17le	APN	7	104,418,933 (GRCm39)	missense	probably benign	0.39
IGL02433:Usp17le	APN	7	104,418,408 (GRCm39)	missense	probably benign	0.01
IGL02960:Usp17le	APN	7	104,417,947 (GRCm39)	missense	probably benign
IGL02984:Usp17le	UTSW	7	104,418,311 (GRCm39)	missense	probably benign	0.21
R0035:Usp17le	UTSW	7	104,418,269 (GRCm39)	nonsense	probably null
R0389:Usp17le	UTSW	7	104,417,667 (GRCm39)	missense	probably damaging	0.96
R0499:Usp17le	UTSW	7	104,417,708 (GRCm39)	missense	probably benign	0.02
R0567:Usp17le	UTSW	7	104,418,105 (GRCm39)	missense	possibly damaging	0.95
R0879:Usp17le	UTSW	7	104,418,855 (GRCm39)	missense	possibly damaging	0.46
R0879:Usp17le	UTSW	7	104,418,854 (GRCm39)	missense	probably damaging	0.99
R4840:Usp17le	UTSW	7	104,418,977 (GRCm39)	missense	probably benign	0.34
R5140:Usp17le	UTSW	7	104,418,645 (GRCm39)	missense	probably damaging	1.00
R5403:Usp17le	UTSW	7	104,418,441 (GRCm39)	missense	probably damaging	1.00
R6210:Usp17le	UTSW	7	104,418,350 (GRCm39)	missense	probably damaging	1.00
R7047:Usp17le	UTSW	7	104,417,640 (GRCm39)	missense	probably benign	0.02
R7157:Usp17le	UTSW	7	104,417,696 (GRCm39)	missense	probably benign	0.03
R7361:Usp17le	UTSW	7	104,418,084 (GRCm39)	missense	probably damaging	1.00
R7386:Usp17le	UTSW	7	104,417,514 (GRCm39)	splice site	probably null
R8189:Usp17le	UTSW	7	104,418,555 (GRCm39)	missense	probably damaging	0.99
R8248:Usp17le	UTSW	7	104,419,001 (GRCm39)	missense	possibly damaging	0.92
R8355:Usp17le	UTSW	7	104,418,752 (GRCm39)	missense	possibly damaging	0.50
R8998:Usp17le	UTSW	7	104,417,969 (GRCm39)	missense	probably benign
R9250:Usp17le	UTSW	7	104,418,839 (GRCm39)	missense	probably damaging	1.00
R9776:Usp17le	UTSW	7	104,419,814 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- AATGGCATTGCTTCTTACGC -3'
(R):5'- AAGCGCTTCTCAGCCTTCAC -3'

Sequencing Primer
(F):5'- AACCTCATGTACTCTGCC -3'
(R):5'- AAGTAAGCTACCCGGAGTTCCTTG -3'

Posted On

2020-01-23