Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03239:Usp35'

414209

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Usp35

Ensembl Gene

ENSMUSG00000035713

Gene Name

ubiquitin specific peptidase 35

Synonyms

LOC381901, LOC244144

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

IGL03239

Quality Score

Status

Chromosome

Chromosomal Location

97309380-97332020 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97321592 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 336 (T336A)

Ref Sequence

ENSEMBL: ENSMUSP00000137927 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000139582
AA Change: T336A

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000137726
Gene: ENSMUSG00000035713
AA Change: T336A

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

possibly damaging
Transcript: ENSMUST00000168435
AA Change: T336A

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000137927
Gene: ENSMUSG00000035713
AA Change: T336A

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	T	C	5: 99,233,976	Y309C	probably damaging	Het
Arvcf	G	T	16: 18,397,067	V44L	probably damaging	Het
Catsperg2	T	G	7: 29,697,716	S1121R	probably benign	Het
Ccdc190	G	T	1: 169,933,980	R217L	probably benign	Het
Chd8	G	A	14: 52,227,548	P619S	possibly damaging	Het
Cyp17a1	A	T	19: 46,667,357	W498R	probably damaging	Het
Dgka	A	G	10: 128,721,385		probably benign	Het
Ep300	A	G	15: 81,641,388	D1471G	unknown	Het
Htr2b	A	G	1: 86,099,692	F364S	probably damaging	Het
Kcnv1	A	G	15: 45,109,490		probably benign	Het
Lrrc37a	T	C	11: 103,499,407	T1731A	probably benign	Het
Mylip	A	G	13: 45,406,625	E179G	possibly damaging	Het
Olfm3	A	G	3: 115,122,594	R392G	probably damaging	Het
Pbk	T	A	14: 65,817,218	D266E	probably benign	Het
Pcdhb13	C	A	18: 37,442,835	L89M	probably damaging	Het
Prdm5	T	G	6: 65,886,078		probably benign	Het
Rab3gap2	A	G	1: 185,249,894	D381G	probably damaging	Het
Sec24d	A	G	3: 123,336,489	N434D	probably benign	Het
Tmem246	T	C	4: 49,586,034	Y378C	probably damaging	Het
Usp17la	C	T	7: 104,860,620	T144I	possibly damaging	Het

Other mutations in Usp35

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0046:Usp35	UTSW	7	97313597	splice site	probably null
R0046:Usp35	UTSW	7	97313597	splice site	probably null
R0739:Usp35	UTSW	7	97311667	nonsense	probably null
R2655:Usp35	UTSW	7	97312147	missense	probably benign
R3623:Usp35	UTSW	7	97312620	missense	probably damaging	1.00
R4750:Usp35	UTSW	7	97310339	missense	possibly damaging	0.85
R4967:Usp35	UTSW	7	97313575	missense	probably damaging	1.00
R5317:Usp35	UTSW	7	97311639	missense	probably damaging	0.99
R5341:Usp35	UTSW	7	97325927	missense	probably damaging	1.00
R5761:Usp35	UTSW	7	97312351	missense	probably benign	0.00
R5894:Usp35	UTSW	7	97313077	missense	probably damaging	1.00
R6113:Usp35	UTSW	7	97324326	missense	probably damaging	1.00
R6282:Usp35	UTSW	7	97325948	missense	probably damaging	1.00
R6454:Usp35	UTSW	7	97311560	missense	probably damaging	0.98
R6454:Usp35	UTSW	7	97311644	nonsense	probably null
R7142:Usp35	UTSW	7	97311547	missense	probably damaging	0.97
R7158:Usp35	UTSW	7	97325964	start codon destroyed	probably null	0.89
R7260:Usp35	UTSW	7	97320079	missense	probably damaging	0.98
RF003:Usp35	UTSW	7	97322096	missense	possibly damaging	0.88

Posted On

2016-08-02