Mutagenetix > Incidental Mutation

Incidental Mutation 'R8248:Usp17le'

640373

Institutional Source

Beutler Lab

Gene Symbol

Usp17le

Ensembl Gene

ENSMUSG00000043073

Gene Name

ubiquitin specific peptidase 17-like E

Synonyms

Gm6596, Dub3

MMRRC Submission

067675-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R8248 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104417256-104426677 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 104419001 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 47 (A47E)

Ref Sequence

ENSEMBL: ENSMUSP00000051716 (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: A47E

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000051716
Gene: ENSMUSG00000043073
AA Change: A47E

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: A47E

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

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

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930003A15Rik	T	C	16: 19,702,556 (GRCm39)	D24G	noncoding transcript	Het
Adam32	A	G	8: 25,391,486 (GRCm39)	S343P	possibly damaging	Het
Agbl2	G	A	2: 90,627,908 (GRCm39)	G238R	probably damaging	Het
Ahi1	T	A	10: 20,847,991 (GRCm39)	D466E	probably benign	Het
Ahnak	T	A	19: 8,979,310 (GRCm39)	V198E	probably damaging	Het
Ank2	T	A	3: 126,731,434 (GRCm39)	H658L	possibly damaging	Het
Atp8b5	T	A	4: 43,366,072 (GRCm39)	I781N	probably damaging	Het
Bloc1s6	A	T	2: 122,584,565 (GRCm39)	R47*	probably null	Het
Clk2	G	A	3: 89,080,811 (GRCm39)	V266M	probably damaging	Het
Cul9	A	C	17: 46,840,940 (GRCm39)	Y777D	probably damaging	Het
Dcp1a	A	G	14: 30,244,883 (GRCm39)	T570A	possibly damaging	Het
Dcp1a	C	T	14: 30,201,555 (GRCm39)		probably benign	Het
Dnajb2	T	G	1: 75,220,226 (GRCm39)	D248E		Het
Dpy19l1	T	C	9: 24,414,191 (GRCm39)	H79R	probably benign	Het
Elmo1	T	C	13: 20,784,371 (GRCm39)	S643P	probably damaging	Het
Evi5	A	G	5: 107,966,753 (GRCm39)		probably null	Het
Fam76b	T	C	9: 13,742,398 (GRCm39)	C110R	probably damaging	Het
Galnt7	T	A	8: 57,991,222 (GRCm39)	K429N	probably benign	Het
Gm10142	T	A	10: 77,551,950 (GRCm39)	C104S	probably damaging	Het
Gm7298	A	C	6: 121,764,402 (GRCm39)	H1427P	probably benign	Het
Golga7b	A	T	19: 42,255,310 (GRCm39)	I87F	probably damaging	Het
Gpr165	C	A	X: 95,757,623 (GRCm39)	D7E	probably benign	Het
Gpr25	C	A	1: 136,188,415 (GRCm39)	R66L	probably benign	Het
H2-Q2	A	G	17: 35,563,841 (GRCm39)	N241D	probably benign	Het
Il1a	T	C	2: 129,144,881 (GRCm39)	D179G	probably benign	Het
Itch	T	C	2: 155,048,303 (GRCm39)		probably null	Het
Itsn2	T	C	12: 4,712,052 (GRCm39)	V913A	probably benign	Het
Kdm1b	T	A	13: 47,225,354 (GRCm39)		probably benign	Het
Lama4	T	C	10: 38,937,375 (GRCm39)	I655T	possibly damaging	Het
Lats1	T	A	10: 7,581,667 (GRCm39)	S817R	probably damaging	Het
Lrrc8c	A	T	5: 105,755,733 (GRCm39)	M503L	probably benign	Het
Mast4	T	C	13: 102,875,229 (GRCm39)	T1380A	probably damaging	Het
Mfap1a	G	T	2: 121,336,976 (GRCm39)	T16K	possibly damaging	Het
Mroh2b	C	T	15: 4,960,586 (GRCm39)	T773I	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Nudt7	A	G	8: 114,878,737 (GRCm39)	Y255C	probably benign	Het
Pfas	T	C	11: 68,891,089 (GRCm39)	T310A	probably damaging	Het
Pkhd1l1	T	G	15: 44,406,942 (GRCm39)	I2393R	probably damaging	Het
Pmm1	A	C	15: 81,844,932 (GRCm39)	L24R	possibly damaging	Het
Pram1	T	C	17: 33,860,138 (GRCm39)	V235A	probably benign	Het
Prg4	T	C	1: 150,330,877 (GRCm39)	T599A	unknown	Het
Prpf40b	A	G	15: 99,214,166 (GRCm39)	K812E	unknown	Het
Qars1	G	A	9: 108,386,651 (GRCm39)	A155T	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rgs6	A	G	12: 83,184,478 (GRCm39)		probably benign	Het
Rom1	T	A	19: 8,906,045 (GRCm39)	R165W	probably damaging	Het
Rps6kb2	T	A	19: 4,206,987 (GRCm39)		probably benign	Het
Ryr1	A	T	7: 28,768,546 (GRCm39)	W2808R	probably damaging	Het
Sh3gl1	A	G	17: 56,326,038 (GRCm39)		probably null	Het
Slc22a30	A	T	19: 8,347,563 (GRCm39)	M279K	probably benign	Het
Snx11	A	G	11: 96,660,759 (GRCm39)	S184P	unknown	Het
Srgap1	A	G	10: 121,640,722 (GRCm39)	C692R	probably damaging	Het
Srgap3	T	C	6: 112,700,104 (GRCm39)	N982S	probably damaging	Het
Stac	T	A	9: 111,422,813 (GRCm39)	D270V	probably benign	Het
Syn3	T	A	10: 85,970,885 (GRCm39)	I246F	probably benign	Het
Tnr	T	C	1: 159,719,663 (GRCm39)	V980A	probably damaging	Het
Vmn2r118	T	C	17: 55,917,936 (GRCm39)	N192S	probably benign	Het
Zmym4	C	A	4: 126,799,162 (GRCm39)	V725L	possibly damaging	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
R7997:Usp17le	UTSW	7	104,418,046 (GRCm39)	missense	possibly damaging	0.94
R8189:Usp17le	UTSW	7	104,418,555 (GRCm39)	missense	probably damaging	0.99
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'- GTCAAGCACTGCAGGGCTG -3'
(R):5'- AAGGCCTTTTGCAGCTTGC -3'

Sequencing Primer
(F):5'- TGCGTTCAGGTAGCAGC -3'
(R):5'- GAGCCCTGATTATCTCTCAGTGTAAG -3'

Posted On

2020-07-28