Mutagenetix > Incidental Mutation

Incidental Mutation 'R9250:Usp17le'

701486

Institutional Source

Beutler Lab

Gene Symbol

Usp17le

Ensembl Gene

ENSMUSG00000043073

Gene Name

ubiquitin specific peptidase 17-like E

Synonyms

Gm6596, Dub3

MMRRC Submission

068989-MU

Accession Numbers

Essential gene?

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

Stock #

R9250 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104417256-104426677 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 104418839 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 101 (Q101P)

Ref Sequence

ENSEMBL: ENSMUSP00000147776 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000053464
AA Change: Q101P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000051716
Gene: ENSMUSG00000043073
AA Change: Q101P

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

probably damaging
Transcript: ENSMUST00000211384
AA Change: Q101P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.0%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	G	3: 137,772,389 (GRCm39)	A526G	probably damaging	Het
AAdacl4fm3	A	T	4: 144,442,011 (GRCm39)	I80K	probably benign	Het
Ablim3	A	G	18: 61,944,501 (GRCm39)	L526P	probably damaging	Het
Aknad1	T	C	3: 108,664,143 (GRCm39)	S369P	probably damaging	Het
Aldh8a1	T	C	10: 21,258,259 (GRCm39)	S119P	probably damaging	Het
Brpf3	T	C	17: 29,054,788 (GRCm39)	I1110T	probably damaging	Het
Cdk12	T	C	11: 98,101,398 (GRCm39)	S419P	probably benign	Het
Cmklr1	G	C	5: 113,752,043 (GRCm39)	H319Q	probably benign	Het
Crim1	C	T	17: 78,677,471 (GRCm39)	H891Y	probably benign	Het
Dapp1	T	C	3: 137,638,919 (GRCm39)	E269G	probably benign	Het
Ddt	T	C	10: 75,609,063 (GRCm39)	D32G	probably benign	Het
Dlg5	T	C	14: 24,240,543 (GRCm39)	D236G	probably benign	Het
Edem1	C	A	6: 108,805,850 (GRCm39)	D50E	probably benign	Het
Exoc5	A	T	14: 49,256,915 (GRCm39)	N490K	probably damaging	Het
Fam117a	C	A	11: 95,228,071 (GRCm39)	D60E	possibly damaging	Het
Fam186a	A	G	15: 99,845,330 (GRCm39)	S305P	unknown	Het
Fbxw21	A	G	9: 108,972,846 (GRCm39)	F363L	probably benign	Het
Fhl2	A	G	1: 43,167,422 (GRCm39)	C224R	probably damaging	Het
Gad1	T	A	2: 70,409,543 (GRCm39)	N211K	probably damaging	Het
Igdcc4	A	G	9: 65,038,932 (GRCm39)	T906A	possibly damaging	Het
Igkv3-5	T	C	6: 70,640,758 (GRCm39)	S80P	probably benign	Het
Igkv4-90	C	A	6: 68,784,331 (GRCm39)	G62*	probably null	Het
Il31ra	A	T	13: 112,669,508 (GRCm39)	Y386N	probably damaging	Het
Kif13a	G	T	13: 46,928,909 (GRCm39)	H1159N	probably damaging	Het
Kmt2a	G	A	9: 44,759,683 (GRCm39)	S722F	possibly damaging	Het
Mipep	T	C	14: 61,028,358 (GRCm39)	Y157H	probably damaging	Het
Mipol1	A	G	12: 57,461,169 (GRCm39)	E293G	probably damaging	Het
Mmp7	A	T	9: 7,697,885 (GRCm39)		probably benign	Het
Mr1	A	G	1: 155,013,325 (GRCm39)	L84P	probably damaging	Het
Neb	A	G	2: 52,168,913 (GRCm39)	V1874A	possibly damaging	Het
Nefm	T	C	14: 68,358,570 (GRCm39)		probably benign	Het
Nek1	T	C	8: 61,465,151 (GRCm39)	M80T	probably damaging	Het
Nubp2	A	G	17: 25,103,373 (GRCm39)		probably null	Het
Or10ab4	C	T	7: 107,655,014 (GRCm39)	T275M	probably damaging	Het
Or5w11	T	C	2: 87,459,278 (GRCm39)	I41T	probably benign	Het
Or8b101	T	A	9: 38,020,718 (GRCm39)	C240*	probably null	Het
Ovch2	C	A	7: 107,392,542 (GRCm39)	R267L	probably damaging	Het
Pole	A	G	5: 110,447,687 (GRCm39)	E741G	possibly damaging	Het
Ptprh	T	A	7: 4,576,289 (GRCm39)	T324S	probably benign	Het
Pxk	T	A	14: 8,144,123 (GRCm38)	H290Q	probably damaging	Het
Rab11fip3	G	T	17: 26,237,219 (GRCm39)	T5N	unknown	Het
Rp9	G	A	9: 22,365,086 (GRCm39)	Q124*	probably null	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,121 (GRCm39)		probably benign	Het
Runx2	A	G	17: 45,125,459 (GRCm39)	L19P	probably benign	Het
Sf1	C	T	19: 6,424,764 (GRCm39)	P473L	unknown	Het
Slc9a2	C	T	1: 40,806,987 (GRCm39)	T758I	probably benign	Het
Spef1l	C	A	7: 139,556,395 (GRCm39)	K197N	probably benign	Het
Tas2r105	T	G	6: 131,663,951 (GRCm39)	H159P	probably benign	Het
Tas2r120	T	A	6: 132,633,954 (GRCm39)	M12K	probably benign	Het
Thoc2l	A	G	5: 104,667,320 (GRCm39)	Y614C	probably benign	Het
Trpv4	T	C	5: 114,764,941 (GRCm39)	Y691C	probably damaging	Het
Unc93a	A	G	17: 13,334,488 (GRCm39)	V337A	probably benign	Het
Usp3	A	T	9: 66,449,793 (GRCm39)		probably null	Het
Zfp445	T	C	9: 122,681,092 (GRCm39)	S950G	possibly damaging	Het
Zfp644	T	G	5: 106,784,699 (GRCm39)	D616A	probably damaging	Het
Zfp759	T	G	13: 67,288,461 (GRCm39)	C671G	probably damaging	Het
Zgrf1	G	T	3: 127,379,797 (GRCm39)	C1111F	probably damaging	Het
Zmym2	T	A	14: 57,148,732 (GRCm39)	S349T	probably 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
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
R9776:Usp17le	UTSW	7	104,419,814 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- GAGAAACTCATGGGCATCTTCC -3'
(R):5'- TTCTTATCCCATAGCAGATCCAGC -3'

Sequencing Primer
(F):5'- CATGGGCATCTTCCTGCTGG -3'
(R):5'- GCAGATCCAGCACTATCATCTCCTG -3'

Posted On

2022-03-25