Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02651:Senp5'

302151

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Senp5

Ensembl Gene

ENSMUSG00000022772

Gene Name

SUMO/sentrin specific peptidase 5

Synonyms

6230429P13Rik, A730063F07Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02651

Quality Score

Status

Chromosome

Chromosomal Location

31959672-32003287 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31990079 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 92 (L92P)

Ref Sequence

ENSEMBL: ENSMUSP00000115257 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023457] [ENSMUST00000129900] [ENSMUST00000155515] [ENSMUST00000231360]

Predicted Effect

probably benign
Transcript: ENSMUST00000023457
AA Change: L119P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000023457
Gene: ENSMUSG00000022772
AA Change: L119P

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
low complexity region	441	452	N/A	INTRINSIC
Pfam:Peptidase_C48	575	747	3.9e-45	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119503

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000121984

Predicted Effect

probably benign
Transcript: ENSMUST00000129900
AA Change: L92P

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000115257
Gene: ENSMUSG00000022772
AA Change: L92P

Domain	Start	End	E-Value	Type
low complexity region	414	425	N/A	INTRINSIC
Pfam:Peptidase_C48	548	603	5.8e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144320

Predicted Effect

probably benign
Transcript: ENSMUST00000155515

SMART Domains

Protein: ENSMUSP00000117481
Gene: ENSMUSG00000022772

Domain	Start	End	E-Value	Type
low complexity region	22	33	N/A	INTRINSIC
Pfam:Peptidase_C48	156	208	2.7e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000231360
AA Change: L119P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232628

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 SENP5, 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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	G	A	19: 31,932,506	G233S	probably benign	Het
Abcc1	T	A	16: 14,466,126	C1202S	probably benign	Het
Acaca	C	T	11: 84,245,204		probably benign	Het
Ap3b1	T	A	13: 94,477,021	F676Y	probably damaging	Het
Arhgef11	C	A	3: 87,698,864	Q309K	probably damaging	Het
Asgr1	T	C	11: 70,057,130	Y80H	possibly damaging	Het
Atp13a5	A	T	16: 29,334,091		probably benign	Het
Atp2a3	C	A	11: 72,975,339	H262N	probably benign	Het
Atp8b2	A	C	3: 89,954,589		probably null	Het
Btnl2	A	G	17: 34,356,222	M1V	probably null	Het
Cpsf3	T	A	12: 21,293,297	M121K	probably damaging	Het
Creb3l3	A	G	10: 81,084,834	I454T	probably benign	Het
Cyp2d12	A	G	15: 82,556,740	E153G	probably damaging	Het
Dnah5	A	G	15: 28,350,622	I2597V	probably benign	Het
Ercc5	C	A	1: 44,156,944	S32R	probably damaging	Het
Fchsd2	T	A	7: 101,277,600	N656K	possibly damaging	Het
Fga	G	A	3: 83,028,534	E23K	probably benign	Het
Fn1	T	C	1: 71,597,676	T1925A	possibly damaging	Het
Fstl5	A	T	3: 76,593,534	E423D	probably damaging	Het
Glg1	C	T	8: 111,160,727	M465I	possibly damaging	Het
H2-M10.4	C	A	17: 36,460,656	R210L	probably benign	Het
Hbb-y	T	G	7: 103,852,750	K105Q	probably benign	Het
Hspg2	A	T	4: 137,557,445		probably benign	Het
Ipo11	T	C	13: 106,875,606	Y556C	probably damaging	Het
Itpr3	A	G	17: 27,106,398	M1322V	probably damaging	Het
Jhy	A	G	9: 40,917,335	L425P	probably damaging	Het
Krt26	C	T	11: 99,333,645	R349Q	probably benign	Het
Ms4a6c	A	T	19: 11,478,305	E159D	possibly damaging	Het
Msh6	A	T	17: 87,989,515	L1213F	probably damaging	Het
Npy1r	A	C	8: 66,705,023	R328S	possibly damaging	Het
Olfr1247	A	T	2: 89,609,498	N201K	possibly damaging	Het
Olfr988	A	C	2: 85,353,050	L292R	probably damaging	Het
Pcdhb18	T	G	18: 37,491,181	Y521*	probably null	Het
Pkhd1l1	A	T	15: 44,483,814	Y192F	probably damaging	Het
Rdh12	T	A	12: 79,222,052	I301N	probably damaging	Het
Rptor	T	C	11: 119,892,612	V1144A	possibly damaging	Het
Sap25	T	C	5: 137,642,370	F171L	possibly damaging	Het
Sfmbt1	T	C	14: 30,815,537	S736P	probably damaging	Het
Tacr1	T	C	6: 82,492,641	S169P	probably damaging	Het
Tbc1d21	A	T	9: 58,363,101	Y130*	probably null	Het
Tle2	G	A	10: 81,586,889	G428D	probably damaging	Het
Tmem117	T	A	15: 95,094,561	N367K	probably damaging	Het
Tmem210	A	G	2: 25,289,089	T130A	possibly damaging	Het
Ttn	T	G	2: 76,850,024		probably benign	Het
Ttyh1	T	C	7: 4,124,679	L122P	probably damaging	Het
Vmn2r60	T	C	7: 42,195,586	F791S	probably damaging	Het
Vps13d	A	T	4: 145,164,559	N575K	probably benign	Het
Vps8	T	C	16: 21,517,336	V746A	probably damaging	Het
Wdfy3	A	T	5: 101,896,475	M1888K	probably benign	Het
Zfp595	T	C	13: 67,320,953	D3G	probably benign	Het

Other mutations in Senp5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00838:Senp5	APN	16	31989173	missense	probably damaging	1.00
IGL00990:Senp5	APN	16	31990274	missense	probably benign	0.00
IGL01707:Senp5	APN	16	31989770	missense	probably damaging	0.99
IGL01923:Senp5	APN	16	31965816	missense	probably damaging	1.00
IGL01997:Senp5	APN	16	31963470	missense	probably damaging	0.97
IGL02273:Senp5	APN	16	31989872	missense	probably benign	0.14
IGL02560:Senp5	APN	16	31989392	missense	probably benign
IGL02830:Senp5	APN	16	31983485	splice site	probably benign
R0578:Senp5	UTSW	16	31989345	missense	possibly damaging	0.75
R1879:Senp5	UTSW	16	31983824	missense	probably damaging	1.00
R2153:Senp5	UTSW	16	31968874	missense	probably damaging	1.00
R4903:Senp5	UTSW	16	31983299	missense	probably damaging	1.00
R5092:Senp5	UTSW	16	31989142	missense	probably benign	0.00
R5590:Senp5	UTSW	16	31989513	missense	probably damaging	0.99
R6346:Senp5	UTSW	16	31983847	missense	probably damaging	1.00
R6362:Senp5	UTSW	16	31989884	missense	probably damaging	0.99
R6762:Senp5	UTSW	16	31989884	missense	probably damaging	0.99
R7002:Senp5	UTSW	16	31983775	missense	probably damaging	1.00
R7027:Senp5	UTSW	16	31989295	missense	probably benign
R7436:Senp5	UTSW	16	31976029	missense	unknown
R7721:Senp5	UTSW	16	31990434	start codon destroyed	unknown

Posted On

2015-04-16