Mutagenetix > Incidental Mutation

Incidental Mutation 'R0739:Usp35'

474096

Institutional Source

Beutler Lab

Gene Symbol

Usp35

Ensembl Gene

ENSMUSG00000035713

Gene Name

ubiquitin specific peptidase 35

Synonyms

LOC244144, LOC381901

MMRRC Submission

038920-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R0739 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

96958587-96981227 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 96960874 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 851 (E851*)

Ref Sequence

ENSEMBL: ENSMUSP00000137927 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004622] [ENSMUST00000139582] [ENSMUST00000168435]

AlphaFold

M0QWN7

Predicted Effect

probably benign
Transcript: ENSMUST00000004622

SMART Domains

Protein: ENSMUSP00000004622
Gene: ENSMUSG00000004508

Domain	Start	End	E-Value	Type
PH	9	121	1.07e-22	SMART
Blast:PH	268	314	4e-11	BLAST
low complexity region	348	355	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000139582
AA Change: E851*

SMART Domains

Protein: ENSMUSP00000137726
Gene: ENSMUSG00000035713
AA Change: E851*

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 null
Transcript: ENSMUST00000168435
AA Change: E851*

SMART Domains

Protein: ENSMUSP00000137927
Gene: ENSMUSG00000035713
AA Change: E851*

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: ENSMUST00000180476

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181351

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181651

SMART Domains

Protein: ENSMUSP00000137720
Gene: ENSMUSG00000035713

Domain	Start	End	E-Value	Type
Pfam:UCH	8	223	1e-24	PFAM
Pfam:UCH_1	9	196	5.7e-22	PFAM
low complexity region	236	247	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.4%
20x: 95.0%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	A	G	11: 54,227,961 (GRCm39)	E327G	probably damaging	Het
Adcy6	T	C	15: 98,496,260 (GRCm39)	D593G	probably benign	Het
Ankmy1	T	C	1: 92,816,370 (GRCm39)	D248G	probably damaging	Het
Atp2a1	T	C	7: 126,047,428 (GRCm39)	I743V	possibly damaging	Het
Axdnd1	T	C	1: 156,208,456 (GRCm39)	N396D	possibly damaging	Het
Cacna1e	C	T	1: 154,318,024 (GRCm39)	A1391T	probably damaging	Het
Ccr8	G	A	9: 119,923,415 (GRCm39)	G177S	probably damaging	Het
Clmn	C	T	12: 104,747,276 (GRCm39)	G757D	possibly damaging	Het
Cntn2	T	A	1: 132,456,750 (GRCm39)	I99F	probably damaging	Het
D6Ertd527e	C	G	6: 87,088,650 (GRCm39)	A271G	unknown	Het
Dnah1	A	T	14: 30,987,872 (GRCm39)	C3515*	probably null	Het
Eif2d	A	G	1: 131,082,100 (GRCm39)	Y64C	probably damaging	Het
Elovl4	A	G	9: 83,667,162 (GRCm39)	F65S	probably damaging	Het
F5	G	C	1: 164,026,486 (GRCm39)	R1686P	probably damaging	Het
Fbn1	T	C	2: 125,209,550 (GRCm39)	E938G	probably benign	Het
Foxn1	T	C	11: 78,249,825 (GRCm39)	T567A	probably benign	Het
Gabrr1	T	C	4: 33,162,781 (GRCm39)	M449T	probably benign	Het
Gdf2	C	T	14: 33,663,178 (GRCm39)	P24L	probably damaging	Het
Itgb3bp	T	C	4: 99,690,433 (GRCm39)	I29V	probably benign	Het
Kcnk7	C	T	19: 5,754,830 (GRCm39)		probably null	Het
Klf11	T	C	12: 24,710,247 (GRCm39)	S432P	probably damaging	Het
Neo1	C	T	9: 58,829,160 (GRCm39)	A580T	probably benign	Het
Nexmif	G	T	X: 103,128,555 (GRCm39)	Q1121K	probably benign	Het
Or51aa5	T	C	7: 103,166,931 (GRCm39)	Y220C	probably damaging	Het
Or51f5	T	C	7: 102,423,872 (GRCm39)	I47T	probably damaging	Het
Or5p62	T	C	7: 107,771,217 (GRCm39)	T245A	probably benign	Het
Osgepl1	G	T	1: 53,362,354 (GRCm39)	E399*	probably null	Het
Parvg	T	A	15: 84,215,222 (GRCm39)	V197E	probably damaging	Het
Pcyt2	A	G	11: 120,502,870 (GRCm39)	L257P	probably damaging	Het
Pou3f2	T	C	4: 22,486,960 (GRCm39)	D391G	possibly damaging	Het
Psmd2	C	T	16: 20,474,079 (GRCm39)	R261C	probably benign	Het
Ptpn13	T	C	5: 103,722,998 (GRCm39)	F1981L	probably benign	Het
Rbp3	A	T	14: 33,680,604 (GRCm39)	I1069F	probably benign	Het
Rhbdf2	A	T	11: 116,490,987 (GRCm39)	L655Q	probably damaging	Het
Sec16a	A	T	2: 26,331,063 (GRCm39)	N317K	possibly damaging	Het
Serpina3f	T	C	12: 104,184,612 (GRCm39)	V252A	probably damaging	Het
Slc22a23	C	T	13: 34,528,366 (GRCm39)	G139S	possibly damaging	Het
Smyd2	T	C	1: 189,621,059 (GRCm39)	T220A	possibly damaging	Het
Snrpb2	T	A	2: 142,907,281 (GRCm39)		probably benign	Het
Spopfm1	A	G	3: 94,173,102 (GRCm39)	M37V	probably benign	Het
Sptan1	A	T	2: 29,903,530 (GRCm39)	I1502F	probably damaging	Het
Srprb	A	T	9: 103,074,794 (GRCm39)	L116H	probably damaging	Het
Stradb	T	A	1: 59,016,174 (GRCm39)		probably benign	Het
Tm9sf4	C	A	2: 153,045,734 (GRCm39)	F535L	probably damaging	Het
Tmprss15	A	T	16: 78,821,736 (GRCm39)	S440T	possibly damaging	Het
Tpr	C	T	1: 150,283,248 (GRCm39)	A293V	possibly damaging	Het
Usp34	C	T	11: 23,417,243 (GRCm39)	T2964I	possibly damaging	Het
Zc3h14	T	A	12: 98,723,460 (GRCm39)	V250D	probably damaging	Het
Zfp568	T	A	7: 29,722,746 (GRCm39)	C564S	probably damaging	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
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
R6282:Usp35	UTSW	7	96,975,155 (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

Posted On

2017-04-14