Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03029:Josd2'

408316

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: 0.123) question?

Stock #

IGL03029

Quality Score

Status

Chromosome

Chromosomal Location

44117404-44121082 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44120601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 71 (S71P)

Ref Sequence

ENSEMBL: ENSMUSP00000112796 (fasta)

Gene Model

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

AlphaFold

Q9CR30

Predicted Effect

probably damaging
Transcript: ENSMUST00000035844
AA Change: S113P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000048415
Gene: ENSMUSG00000038695
AA Change: S113P

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 damaging
Transcript: ENSMUST00000117324
AA Change: S113P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113313
Gene: ENSMUSG00000038695
AA Change: S113P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000118493
AA Change: S113P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113226
Gene: ENSMUSG00000038695
AA Change: S113P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000118628
AA Change: S113P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113172
Gene: ENSMUSG00000038695
AA Change: S113P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000120852
AA Change: S113P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114105
Gene: ENSMUSG00000038695
AA Change: S113P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000121922
AA Change: S71P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112796
Gene: ENSMUSG00000038695
AA Change: S71P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155659

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131817

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149341

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132952

Predicted Effect

probably benign
Transcript: ENSMUST00000134398

Predicted Effect

probably benign
Transcript: ENSMUST00000139097

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133801

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130220

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133656

Predicted Effect

probably benign
Transcript: ENSMUST00000135624

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

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: 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: ENSMUST00000208117

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207591

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184821

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206210

Predicted Effect

probably benign
Transcript: ENSMUST00000206887

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acy1	T	A	9: 106,312,314 (GRCm39)	D213V	probably damaging	Het
Akap6	T	C	12: 52,933,195 (GRCm39)	L229P	probably damaging	Het
Ankrd10	A	T	8: 11,669,304 (GRCm39)		probably null	Het
Arfgap3	C	T	15: 83,206,851 (GRCm39)	E246K	probably damaging	Het
Cadps	G	T	14: 12,376,675 (GRCm38)	T1274K	probably damaging	Het
Cd46	T	C	1: 194,768,451 (GRCm39)	T89A	probably benign	Het
Cylc1	A	C	X: 110,156,944 (GRCm39)		probably benign	Het
Dach2	T	A	X: 112,724,833 (GRCm39)	L492*	probably null	Het
Dlc1	T	C	8: 37,038,416 (GRCm39)		probably null	Het
Fanci	T	C	7: 79,093,747 (GRCm39)	V1033A	probably benign	Het
Fat4	T	C	3: 39,036,740 (GRCm39)	I3464T	possibly damaging	Het
Fus	A	G	7: 127,584,712 (GRCm39)		probably benign	Het
Garin5b	G	T	7: 4,760,839 (GRCm39)	N624K	possibly damaging	Het
Hectd3	G	T	4: 116,854,162 (GRCm39)	E271*	probably null	Het
Herc2	T	C	7: 55,818,715 (GRCm39)	L2802P	probably damaging	Het
Hk2	G	A	6: 82,715,314 (GRCm39)	R407C	probably damaging	Het
Kif20b	A	G	19: 34,928,313 (GRCm39)	T1152A	probably benign	Het
Myo15b	G	A	11: 115,762,469 (GRCm39)	V1229I	probably benign	Het
Nup188	T	C	2: 30,212,592 (GRCm39)		probably benign	Het
Or1i2	T	A	10: 78,447,792 (GRCm39)	I228F	probably benign	Het
Pank1	T	A	19: 34,798,535 (GRCm39)	I476F	probably damaging	Het
Pdcd6	A	G	13: 74,457,899 (GRCm39)	Y91H	probably damaging	Het
Pik3r3	T	G	4: 116,156,998 (GRCm39)	V393G	probably damaging	Het
Poglut3	T	C	9: 53,295,588 (GRCm39)		probably null	Het
Prx	C	T	7: 27,207,486 (GRCm39)	R48*	probably null	Het
Rbm5	A	G	9: 107,631,652 (GRCm39)	S222P	possibly damaging	Het
Rev3l	T	A	10: 39,704,482 (GRCm39)	I302N	probably benign	Het
Rnf139	T	C	15: 58,770,967 (GRCm39)	F331L	probably damaging	Het
Shisa4	G	T	1: 135,300,914 (GRCm39)	Q119K	probably damaging	Het
Shisa6	T	A	11: 66,108,839 (GRCm39)	E346V	probably damaging	Het
Slc6a3	A	T	13: 73,686,816 (GRCm39)	E61V	probably damaging	Het
Slc9a7	T	A	X: 20,157,608 (GRCm39)	M106L	probably benign	Het
Srek1	A	G	13: 103,900,468 (GRCm39)		probably benign	Het
Strc	G	A	2: 121,194,525 (GRCm39)	L1788F	possibly damaging	Het
Styk1	T	C	6: 131,277,523 (GRCm39)	S284G	probably benign	Het
Top2a	T	A	11: 98,909,625 (GRCm39)	T158S	probably benign	Het
Vangl1	C	T	3: 102,091,400 (GRCm39)	V229M	probably damaging	Het
Vsig1	A	G	X: 139,827,261 (GRCm39)	T137A	possibly damaging	Het

Other mutations in Josd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Josd2	APN	7	44,120,740 (GRCm39)	unclassified	probably benign
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

2016-08-02