Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00164:Josd2'

1496

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Josd2

Ensembl Gene

ENSMUSG00000038695

Gene Name

Josephin domain containing 2

Synonyms

1110007C05Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

IGL00164

Quality Score

Status

Chromosome

Chromosomal Location

44117404-44121082 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 44120740 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146846 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035844] [ENSMUST00000035929] [ENSMUST00000117324] [ENSMUST00000118493] [ENSMUST00000118628] [ENSMUST00000120852] [ENSMUST00000121922] [ENSMUST00000136679] [ENSMUST00000134398] [ENSMUST00000135624] [ENSMUST00000136609] [ENSMUST00000146128] [ENSMUST00000152902] [ENSMUST00000208117] [ENSMUST00000206887] [ENSMUST00000156957]

AlphaFold

Q9CR30

Predicted Effect

probably benign
Transcript: ENSMUST00000035844

SMART Domains

Protein: ENSMUSP00000048415
Gene: ENSMUSG00000038695

Domain	Start	End	E-Value	Type
Josephin	18	176	1.47e-81	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000035929

SMART Domains

Protein: ENSMUSP00000039202
Gene: ENSMUSG00000038704

Domain	Start	End	E-Value	Type
Pfam:NAD_binding_3	17	128	3.8e-24	PFAM
Pfam:DUF108	174	265	2.9e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117324

SMART Domains

Protein: ENSMUSP00000113313
Gene: ENSMUSG00000038695

Domain	Start	End	E-Value	Type
Josephin	18	176	1.47e-81	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118493

SMART Domains

Protein: ENSMUSP00000113226
Gene: ENSMUSG00000038695

Domain	Start	End	E-Value	Type
Josephin	18	176	1.47e-81	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118628

SMART Domains

Protein: ENSMUSP00000113172
Gene: ENSMUSG00000038695

Domain	Start	End	E-Value	Type
Josephin	18	176	1.47e-81	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120852

SMART Domains

Protein: ENSMUSP00000114105
Gene: ENSMUSG00000038695

Domain	Start	End	E-Value	Type
Josephin	18	176	1.47e-81	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121922

SMART Domains

Protein: ENSMUSP00000112796
Gene: ENSMUSG00000038695

Domain	Start	End	E-Value	Type
Josephin	18	134	7e-33	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000136679

SMART Domains

Protein: ENSMUSP00000114900
Gene: ENSMUSG00000038695

Domain	Start	End	E-Value	Type
Pfam:Josephin	18	61	3.6e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133656

Predicted Effect

probably benign
Transcript: ENSMUST00000139097

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155659

Predicted Effect

probably benign
Transcript: ENSMUST00000134398

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132952

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130220

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133801

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149341

Predicted Effect

probably benign
Transcript: ENSMUST00000135624

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131817

Predicted Effect

probably benign
Transcript: ENSMUST00000136609

SMART Domains

Protein: ENSMUSP00000123205
Gene: ENSMUSG00000038695

Domain	Start	End	E-Value	Type
Josephin	18	97	7.71e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000146128

SMART Domains

Protein: ENSMUSP00000119474
Gene: ENSMUSG00000038704

Domain	Start	End	E-Value	Type
Pfam:NAD_binding_3	5	110	1e-19	PFAM
Pfam:DUF108	153	252	7.5e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152902

Predicted Effect

probably benign
Transcript: ENSMUST00000208117

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207591

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184821

Predicted Effect

probably benign
Transcript: ENSMUST00000206887

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206210

Predicted Effect

probably benign
Transcript: ENSMUST00000156957

SMART Domains

Protein: ENSMUSP00000121766
Gene: ENSMUSG00000038704

Domain	Start	End	E-Value	Type
Pfam:DUF108	52	151	2.6e-24	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing a Josephin domain. Josephin domain-containing proteins are deubiquitinating enzymes which catalyze the hydrolysis of the bond between the C-terminal glycine of the ubiquitin peptide and protein substrates. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,471,477 (GRCm39)		probably benign	Het
Abcg4	A	G	9: 44,186,439 (GRCm39)		probably benign	Het
Actr2	A	G	11: 20,030,015 (GRCm39)		probably benign	Het
Adgrb3	A	G	1: 25,267,581 (GRCm39)	L843P	probably benign	Het
Cdk19	G	A	10: 40,312,161 (GRCm39)	D137N	probably benign	Het
Cuedc2	T	A	19: 46,320,359 (GRCm39)	I71F	probably damaging	Het
Dag1	A	G	9: 108,086,487 (GRCm39)	V218A	probably damaging	Het
Dlg5	A	C	14: 24,208,532 (GRCm39)	S868R	possibly damaging	Het
Ecsit	C	T	9: 21,984,310 (GRCm39)	G340D	probably benign	Het
Fkbp8	A	G	8: 70,987,211 (GRCm39)	M358V	probably damaging	Het
Gckr	G	A	5: 31,456,920 (GRCm39)	V79M	probably damaging	Het
Gpd1	C	A	15: 99,618,532 (GRCm39)	D172E	probably benign	Het
Kcna2	T	C	3: 107,011,946 (GRCm39)	S176P	probably damaging	Het
Kcnq4	G	A	4: 120,555,213 (GRCm39)	Q657*	probably null	Het
Kif14	G	A	1: 136,396,756 (GRCm39)	S354N	probably benign	Het
Notch1	G	A	2: 26,350,058 (GRCm39)	R2361W	probably damaging	Het
Or5w1	T	C	2: 87,486,582 (GRCm39)	M228V	probably benign	Het
Palb2	A	C	7: 121,720,271 (GRCm39)		probably benign	Het
Pan2	C	T	10: 128,148,795 (GRCm39)	Q452*	probably null	Het
Pcnx1	T	C	12: 81,941,875 (GRCm39)	V91A	probably damaging	Het
Rgs22	T	A	15: 36,100,077 (GRCm39)	I213F	possibly damaging	Het
Serpina3b	G	T	12: 104,105,046 (GRCm39)	W407C	probably benign	Het
Sf3b2	T	C	19: 5,329,615 (GRCm39)	D687G	probably benign	Het
Slc8a3	T	C	12: 81,361,343 (GRCm39)	E492G	probably benign	Het
Sox4	C	A	13: 29,136,956 (GRCm39)	G17W	probably damaging	Het
Sp2	C	T	11: 96,845,387 (GRCm39)	R578H	probably damaging	Het
Surf1	C	T	2: 26,803,584 (GRCm39)		probably null	Het
Tmem190	T	C	7: 4,785,998 (GRCm39)		probably benign	Het
Zfhx2	A	G	14: 55,302,483 (GRCm39)	S1834P	possibly damaging	Het
Zfp607a	G	A	7: 27,577,214 (GRCm39)	E95K	possibly damaging	Het

Other mutations in Josd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03029:Josd2	APN	7	44,120,601 (GRCm39)	missense	probably damaging	0.98
R1376:Josd2	UTSW	7	44,120,539 (GRCm39)	missense	probably damaging	1.00
R1376:Josd2	UTSW	7	44,120,539 (GRCm39)	missense	probably damaging	1.00
R1782:Josd2	UTSW	7	44,120,577 (GRCm39)	missense	probably damaging	1.00
R2849:Josd2	UTSW	7	44,118,397 (GRCm39)	splice site	probably null
R4739:Josd2	UTSW	7	44,120,678 (GRCm39)	missense	probably damaging	1.00
R4944:Josd2	UTSW	7	44,120,592 (GRCm39)	missense	probably damaging	1.00
R6492:Josd2	UTSW	7	44,120,578 (GRCm39)	missense	probably damaging	1.00
R8688:Josd2	UTSW	7	44,120,640 (GRCm39)	missense	probably damaging	1.00
R8980:Josd2	UTSW	7	44,117,702 (GRCm39)	intron	probably benign

Posted On

2011-07-12