Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02996:Senp3'

407132

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Senp3

Ensembl Gene

ENSMUSG00000005204

Gene Name

SUMO/sentrin specific peptidase 3

Synonyms

Smt3ip1

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.661) question?

Stock #

IGL02996

Quality Score

Status

Chromosome

Chromosomal Location

69563941-69572910 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69565086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 496 (E496G)

Ref Sequence

ENSEMBL: ENSMUSP00000066581 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005336] [ENSMUST00000066760] [ENSMUST00000102589] [ENSMUST00000163666]

AlphaFold

Q9EP97

Predicted Effect

probably damaging
Transcript: ENSMUST00000005336
AA Change: E496G

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

SMART Domains

Protein: ENSMUSP00000005336
Gene: ENSMUSG00000005204
AA Change: E496G

Domain	Start	End	E-Value	Type
low complexity region	25	40	N/A	INTRINSIC
low complexity region	42	53	N/A	INTRINSIC
low complexity region	74	86	N/A	INTRINSIC
low complexity region	118	131	N/A	INTRINSIC
low complexity region	183	195	N/A	INTRINSIC
Pfam:Peptidase_C48	394	566	4.9e-49	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000066760
AA Change: E496G

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

SMART Domains

Protein: ENSMUSP00000066581
Gene: ENSMUSG00000005204
AA Change: E496G

Domain	Start	End	E-Value	Type
low complexity region	25	40	N/A	INTRINSIC
low complexity region	42	53	N/A	INTRINSIC
low complexity region	74	86	N/A	INTRINSIC
low complexity region	118	131	N/A	INTRINSIC
low complexity region	183	195	N/A	INTRINSIC
Pfam:Peptidase_C48	394	566	4.9e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102589

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122759

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123084

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123995

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127677

Predicted Effect

unknown
Transcript: ENSMUST00000134942
AA Change: E96G

SMART Domains

Protein: ENSMUSP00000114791
Gene: ENSMUSG00000005204
AA Change: E96G

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C48	5	167	4.1e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128519

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129295

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139299

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128355

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130440

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142206

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153516

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140310

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145289

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135372

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142214

Predicted Effect

probably benign
Transcript: ENSMUST00000163666

SMART Domains

Protein: ENSMUSP00000127034
Gene: ENSMUSG00000059796

Domain	Start	End	E-Value	Type
DEXDc	51	249	3.61e-60	SMART
HELICc	286	367	1.04e-33	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The reversible posttranslational modification of proteins by the addition of small ubiquitin-like SUMO proteins (see SUMO1; MIM 601912) is required for numerous biologic processes. SUMO-specific proteases, such as SENP3, are responsible for the initial processing of SUMO precursors to generate a C-terminal diglycine motif required for the conjugation reaction. They also have isopeptidase activity for the removal of SUMO from high molecular mass SUMO conjugates (Di Bacco et al., 2006 [PubMed 16738315]).[supplied by OMIM, Jun 2009]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
B4galnt1	C	T	10: 127,002,872 (GRCm39)	R130W	probably damaging	Het
Cd200r3	T	C	16: 44,774,680 (GRCm39)	L231P	probably damaging	Het
Cd200r4	C	A	16: 44,653,396 (GRCm39)	N55K	probably benign	Het
Cyb561d1	C	T	3: 108,106,961 (GRCm39)	R86Q	probably damaging	Het
Dst	T	C	1: 34,227,479 (GRCm39)	S1869P	possibly damaging	Het
Dusp6	T	C	10: 99,100,628 (GRCm39)	V208A	possibly damaging	Het
Dync2h1	A	T	9: 6,935,279 (GRCm39)	V4248E	probably damaging	Het
Exoc6b	T	A	6: 84,885,195 (GRCm39)	D248V	probably benign	Het
Fat4	A	C	3: 39,012,674 (GRCm39)	D2323A	probably damaging	Het
Fbxo6	T	C	4: 148,231,348 (GRCm39)	Y144C	probably damaging	Het
Gm7334	C	A	17: 51,006,084 (GRCm39)	N123K	possibly damaging	Het
Large2	T	C	2: 92,196,273 (GRCm39)	H518R	possibly damaging	Het
Marchf4	G	A	1: 72,468,058 (GRCm39)	Q325*	probably null	Het
Mccc2	C	A	13: 100,097,487 (GRCm39)		probably benign	Het
Mical3	T	C	6: 120,935,519 (GRCm39)	D1669G	probably damaging	Het
Mkrn2	T	C	6: 115,588,868 (GRCm39)	F204L	probably benign	Het
Or1p1	T	C	11: 74,179,991 (GRCm39)	V173A	probably benign	Het
Or8g26	A	G	9: 39,096,361 (GRCm39)	R293G	probably damaging	Het
Pkn3	A	G	2: 29,970,627 (GRCm39)	D148G	probably benign	Het
Ppef2	C	T	5: 92,383,759 (GRCm39)	W450*	probably null	Het
Rwdd1	G	T	10: 33,878,512 (GRCm39)	Q108K	probably damaging	Het
St6gal1	T	A	16: 23,139,904 (GRCm39)	V25E	probably damaging	Het
Syt4	T	C	18: 31,577,199 (GRCm39)	K52E	probably damaging	Het
Tap1	C	A	17: 34,410,370 (GRCm39)	A349E	probably damaging	Het
Tfr2	T	A	5: 137,581,728 (GRCm39)	M605K	probably benign	Het
Tmem192	A	G	8: 65,421,442 (GRCm39)		probably null	Het
Trf	T	C	9: 103,098,102 (GRCm39)	E52G	probably benign	Het
Ttn	A	G	2: 76,556,531 (GRCm39)	V30158A	probably damaging	Het
Unc5a	A	G	13: 55,143,991 (GRCm39)	E152G	probably damaging	Het
Vmn2r57	T	A	7: 41,049,165 (GRCm39)	K861N	probably benign	Het

Other mutations in Senp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00684:Senp3	APN	11	69,564,919 (GRCm39)	missense	possibly damaging	0.50
IGL02227:Senp3	APN	11	69,565,356 (GRCm39)	missense	possibly damaging	0.95
IGL02942:Senp3	APN	11	69,568,815 (GRCm39)	missense	probably benign	0.02
R0784:Senp3	UTSW	11	69,571,274 (GRCm39)	missense	probably damaging	0.99
R2474:Senp3	UTSW	11	69,564,923 (GRCm39)	missense	probably damaging	1.00
R4619:Senp3	UTSW	11	69,567,944 (GRCm39)	missense	probably benign	0.00
R4620:Senp3	UTSW	11	69,567,944 (GRCm39)	missense	probably benign	0.00
R4737:Senp3	UTSW	11	69,569,655 (GRCm39)	nonsense	probably null
R4777:Senp3	UTSW	11	69,569,063 (GRCm39)	missense	probably damaging	1.00
R4824:Senp3	UTSW	11	69,568,821 (GRCm39)	missense	probably benign	0.16
R5513:Senp3	UTSW	11	69,567,965 (GRCm39)	missense	probably benign
R5870:Senp3	UTSW	11	69,569,048 (GRCm39)	splice site	probably null
R7206:Senp3	UTSW	11	69,569,557 (GRCm39)	missense	probably benign	0.08
R7735:Senp3	UTSW	11	69,569,087 (GRCm39)	missense	probably damaging	0.99
R8724:Senp3	UTSW	11	69,564,419 (GRCm39)	missense	probably damaging	0.99
R9228:Senp3	UTSW	11	69,569,085 (GRCm39)	missense	probably damaging	0.96
R9767:Senp3	UTSW	11	69,569,013 (GRCm39)	missense	possibly damaging	0.71

Posted On

2016-08-02