Mutagenetix > Incidental Mutation

Incidental Mutation 'R6282:Usp35'

507995

Institutional Source

Beutler Lab

Gene Symbol

Usp35

Ensembl Gene

ENSMUSG00000035713

Gene Name

ubiquitin specific peptidase 35

Synonyms

LOC244144, LOC381901

MMRRC Submission

044452-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R6282 (G1)

Quality Score

102.008

Status

Validated

Chromosome

Chromosomal Location

96958587-96981227 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96975155 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 6 (E6G)

Ref Sequence

ENSEMBL: ENSMUSP00000137927 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000139582] [ENSMUST00000168435]

AlphaFold

M0QWN7

Predicted Effect

probably damaging
Transcript: ENSMUST00000139582
AA Change: E6G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137726
Gene: ENSMUSG00000035713
AA Change: E6G

Domain	Start	End	E-Value	Type
low complexity region	86	102	N/A	INTRINSIC
Pfam:UCH	440	915	5.2e-50	PFAM
Pfam:UCH_1	441	890	1.5e-29	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000168435
AA Change: E6G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137927
Gene: ENSMUSG00000035713
AA Change: E6G

Domain	Start	End	E-Value	Type
low complexity region	86	102	N/A	INTRINSIC
Pfam:UCH	440	915	7.1e-48	PFAM
Pfam:UCH_1	441	890	7.4e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181354

Meta Mutation Damage Score

0.2021

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

98% (45/46)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	A	T	2: 30,690,781 (GRCm39)	L185Q	possibly damaging	Het
Abca6	A	T	11: 110,099,650 (GRCm39)	C966S	probably damaging	Het
Atp13a4	A	T	16: 29,252,822 (GRCm39)	I708N	probably benign	Het
Axin1	C	G	17: 26,362,011 (GRCm39)	D118E	probably damaging	Het
Bace2	A	T	16: 97,216,297 (GRCm39)	I297F	probably damaging	Het
Ccdc30	T	A	4: 119,181,214 (GRCm39)	D649V	probably damaging	Het
Cd180	G	A	13: 102,830,265 (GRCm39)	A20T	possibly damaging	Het
Cdk18	T	C	1: 132,047,758 (GRCm39)	D112G	probably damaging	Het
Cuedc1	A	G	11: 88,074,228 (GRCm39)	N254S	probably damaging	Het
Dnah7a	T	C	1: 53,542,760 (GRCm39)	H2470R	probably damaging	Het
Drap1	G	A	19: 5,474,464 (GRCm39)		probably null	Het
Fbxo5	T	A	10: 5,751,216 (GRCm39)	K257M	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm12790	A	G	4: 101,824,713 (GRCm39)	V185A	possibly damaging	Het
Gm7361	A	G	5: 26,465,411 (GRCm39)	N136S	probably benign	Het
Il10ra	C	A	9: 45,171,703 (GRCm39)	C255F	probably damaging	Het
Insyn2b	A	G	11: 34,352,819 (GRCm39)	D287G	possibly damaging	Het
Itgam	A	T	7: 127,684,114 (GRCm39)	T340S	probably benign	Het
Ktn1	A	T	14: 47,901,428 (GRCm39)	N62I	probably damaging	Het
Ldb2	A	G	5: 44,690,007 (GRCm39)	L204P	probably damaging	Het
Map2k4	T	C	11: 65,597,842 (GRCm39)	T90A	possibly damaging	Het
Mettl3	A	T	14: 52,535,428 (GRCm39)	D287E	probably benign	Het
Mier2	A	G	10: 79,380,576 (GRCm39)	F278S	probably damaging	Het
Mis18bp1	A	G	12: 65,195,937 (GRCm39)	M609T	probably benign	Het
Myo1d	A	T	11: 80,448,338 (GRCm39)	V929D	probably damaging	Het
Naprt	A	T	15: 75,763,828 (GRCm39)	M364K	probably benign	Het
Nod2	T	A	8: 89,397,088 (GRCm39)	C833S	probably benign	Het
Nrip3	C	T	7: 109,362,686 (GRCm39)		probably null	Het
Ntsr2	A	G	12: 16,708,426 (GRCm39)	Y320C	probably damaging	Het
Or14j8	G	A	17: 38,263,315 (GRCm39)	S200F	possibly damaging	Het
Or4p7	C	A	2: 88,221,877 (GRCm39)	C95*	probably null	Het
Or51h1	G	A	7: 102,308,854 (GRCm39)	M275I	probably benign	Het
Osbpl3	A	T	6: 50,325,063 (GRCm39)		probably null	Het
Pcdhb3	C	T	18: 37,434,699 (GRCm39)	R222C	probably damaging	Het
Pik3cd	G	T	4: 149,744,200 (GRCm39)	R184S	probably benign	Het
Pramel32	T	C	4: 88,548,291 (GRCm39)	E38G	probably damaging	Het
Rad50	A	T	11: 53,560,597 (GRCm39)		probably null	Het
Rad51ap2	A	T	12: 11,507,560 (GRCm39)	H494L	probably benign	Het
Rbm25	T	C	12: 83,722,863 (GRCm39)	M762T	probably damaging	Het
Sars1	G	T	3: 108,335,590 (GRCm39)	S338*	probably null	Het
Vash2	T	C	1: 190,692,422 (GRCm39)	Y251C	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wdr20	T	A	12: 110,763,443 (GRCm39)		probably benign	Het
Wfdc1	G	A	8: 120,406,146 (GRCm39)	C87Y	probably damaging	Het
Zfp985	T	A	4: 147,667,805 (GRCm39)	H224Q	probably benign	Het

Other mutations in Usp35

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03239:Usp35	APN	7	96,970,799 (GRCm39)	missense	possibly damaging	0.62
R0046:Usp35	UTSW	7	96,962,804 (GRCm39)	splice site	probably null
R0046:Usp35	UTSW	7	96,962,804 (GRCm39)	splice site	probably null
R0739:Usp35	UTSW	7	96,960,874 (GRCm39)	nonsense	probably null
R2655:Usp35	UTSW	7	96,961,354 (GRCm39)	missense	probably benign
R3623:Usp35	UTSW	7	96,961,827 (GRCm39)	missense	probably damaging	1.00
R4750:Usp35	UTSW	7	96,959,546 (GRCm39)	missense	possibly damaging	0.85
R4967:Usp35	UTSW	7	96,962,782 (GRCm39)	missense	probably damaging	1.00
R5317:Usp35	UTSW	7	96,960,846 (GRCm39)	missense	probably damaging	0.99
R5341:Usp35	UTSW	7	96,975,134 (GRCm39)	missense	probably damaging	1.00
R5761:Usp35	UTSW	7	96,961,558 (GRCm39)	missense	probably benign	0.00
R5894:Usp35	UTSW	7	96,962,284 (GRCm39)	missense	probably damaging	1.00
R6113:Usp35	UTSW	7	96,973,533 (GRCm39)	missense	probably damaging	1.00
R6454:Usp35	UTSW	7	96,960,851 (GRCm39)	nonsense	probably null
R6454:Usp35	UTSW	7	96,960,767 (GRCm39)	missense	probably damaging	0.98
R7142:Usp35	UTSW	7	96,960,754 (GRCm39)	missense	probably damaging	0.97
R7158:Usp35	UTSW	7	96,975,171 (GRCm39)	start codon destroyed	probably null	0.89
R7260:Usp35	UTSW	7	96,969,286 (GRCm39)	missense	probably damaging	0.98
R8270:Usp35	UTSW	7	96,961,551 (GRCm39)	missense	probably benign
R8275:Usp35	UTSW	7	96,964,026 (GRCm39)	missense	probably damaging	1.00
R8795:Usp35	UTSW	7	96,961,270 (GRCm39)	missense	probably benign
R8795:Usp35	UTSW	7	96,961,167 (GRCm39)	missense	possibly damaging	0.92
R9198:Usp35	UTSW	7	96,962,276 (GRCm39)	missense	probably damaging	1.00
RF003:Usp35	UTSW	7	96,971,303 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- CTGAAGAACTCGGCGAAGAC -3'
(R):5'- CCATTGGTGATGAACAGTAGTGTG -3'

Sequencing Primer
(F):5'- CACGTGCAGCAACTGGC -3'
(R):5'- TGAACAGTAGTGTGGATGTATAAGC -3'

Posted On

2018-03-15