Mutagenetix > Incidental Mutation

Incidental Mutation 'R7735:Senp3'

596205

Institutional Source

Beutler Lab

Gene Symbol

Senp3

Ensembl Gene

ENSMUSG00000005204

Gene Name

SUMO/sentrin specific peptidase 3

Synonyms

Smt3ip1

MMRRC Submission

045791-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.661) question?

Stock #

R7735 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69563941-69572910 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69569087 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 358 (I358T)

Ref Sequence

ENSEMBL: ENSMUSP00000005336 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005336] [ENSMUST00000018896] [ENSMUST00000066760] [ENSMUST00000108648] [ENSMUST00000108649] [ENSMUST00000174159] [ENSMUST00000180587]

AlphaFold

Q9EP97

Predicted Effect

probably damaging
Transcript: ENSMUST00000005336
AA Change: I358T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000005336
Gene: ENSMUSG00000005204
AA Change: I358T

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: ENSMUST00000018896

SMART Domains

Protein: ENSMUSP00000018896
Gene: ENSMUSG00000089669

Domain	Start	End	E-Value	Type
Blast:TNF	39	87	1e-22	BLAST
low complexity region	101	106	N/A	INTRINSIC
TNF	107	240	7.41e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000066760
AA Change: I358T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000066581
Gene: ENSMUSG00000005204
AA Change: I358T

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: ENSMUST00000108648

SMART Domains

Protein: ENSMUSP00000104288
Gene: ENSMUSG00000089669

Domain	Start	End	E-Value	Type
Blast:TNF	39	87	1e-22	BLAST
TNF	97	224	6.21e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108649

SMART Domains

Protein: ENSMUSP00000104289
Gene: ENSMUSG00000018752

Domain	Start	End	E-Value	Type
low complexity region	4	14	N/A	INTRINSIC
transmembrane domain	20	42	N/A	INTRINSIC
low complexity region	90	109	N/A	INTRINSIC
PDB:4HT1\|T	110	166	1e-31	PDB
Blast:TNF	117	166	4e-27	BLAST
low complexity region	190	195	N/A	INTRINSIC
TNF	196	329	7.41e-3	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000114791
Gene: ENSMUSG00000005204
AA Change: I30T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000174159

SMART Domains

Protein: ENSMUSP00000133951
Gene: ENSMUSG00000018752

Domain	Start	End	E-Value	Type
low complexity region	4	14	N/A	INTRINSIC
transmembrane domain	20	42	N/A	INTRINSIC
low complexity region	90	109	N/A	INTRINSIC
TNF	117	255	6.18e-10	SMART
low complexity region	269	274	N/A	INTRINSIC
TNF	275	408	7.41e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000180587

SMART Domains

Protein: ENSMUSP00000137973
Gene: ENSMUSG00000018752

Domain	Start	End	E-Value	Type
low complexity region	4	14	N/A	INTRINSIC
transmembrane domain	20	42	N/A	INTRINSIC
low complexity region	91	110	N/A	INTRINSIC
TNF	118	256	6.18e-10	SMART
low complexity region	270	275	N/A	INTRINSIC
TNF	276	410	1.91e-2	SMART

Meta Mutation Damage Score

0.2583

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (58/58)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	T	C	15: 64,655,629 (GRCm39)	T617A	probably benign	Het
Agl	A	T	3: 116,578,795 (GRCm39)	I446N	probably benign	Het
Aox1	C	T	1: 58,107,451 (GRCm39)	P575L	probably benign	Het
Ap2m1	A	T	16: 20,358,269 (GRCm39)	I96F	probably benign	Het
Arhgap15	A	G	2: 44,006,642 (GRCm39)	D253G	probably damaging	Het
Arsa	A	T	15: 89,359,152 (GRCm39)	C171*	probably null	Het
Arsb	G	T	13: 93,908,491 (GRCm39)	R69L	probably benign	Het
Asb13	G	A	13: 3,684,180 (GRCm39)		probably null	Het
Canx	G	T	11: 50,191,866 (GRCm39)	D348E	probably damaging	Het
Cebpz	C	T	17: 79,233,342 (GRCm39)		probably null	Het
Ces2h	A	T	8: 105,741,127 (GRCm39)	I40L	probably benign	Het
Cfhr4	A	G	1: 139,660,039 (GRCm39)		probably null	Het
Csmd2	T	C	4: 128,350,723 (GRCm39)		probably null	Het
Cxadr	T	A	16: 78,125,949 (GRCm39)	N106K	possibly damaging	Het
Ddo	T	C	10: 40,507,770 (GRCm39)	C56R	probably benign	Het
Dnah6	C	T	6: 73,046,412 (GRCm39)	G3192D	probably damaging	Het
Efcab3	T	A	11: 104,962,465 (GRCm39)	V49E	probably benign	Het
Epha10	T	C	4: 124,807,472 (GRCm39)	Y578H		Het
Fbxw16	T	C	9: 109,270,135 (GRCm39)	D202G	probably damaging	Het
Gzf1	T	C	2: 148,530,083 (GRCm39)	V538A	possibly damaging	Het
Igha	T	A	12: 113,220,019 (GRCm39)		probably benign	Het
Iqce	G	T	5: 140,663,839 (GRCm39)	Q457K	probably benign	Het
Kbtbd3	A	G	9: 4,330,846 (GRCm39)	K407E	possibly damaging	Het
Lipt1	A	G	1: 37,914,703 (GRCm39)	E253G	probably damaging	Het
Mrnip	G	A	11: 50,087,800 (GRCm39)	W107*	probably null	Het
Mroh4	T	C	15: 74,497,357 (GRCm39)	T224A	probably damaging	Het
Ncoa2	A	T	1: 13,218,661 (GRCm39)	S1389R	probably benign	Het
Npffr2	A	G	5: 89,731,173 (GRCm39)	I368V	probably benign	Het
Nrdc	C	T	4: 108,895,182 (GRCm39)	L469F	probably damaging	Het
Nup210l	A	T	3: 90,092,883 (GRCm39)	Q1279L	probably damaging	Het
Or4k47	T	A	2: 111,451,819 (GRCm39)	N200I	probably damaging	Het
Or7e170	A	G	9: 19,795,410 (GRCm39)	Y64H	probably damaging	Het
Pcdha4	T	G	18: 37,085,961 (GRCm39)	I48S	probably damaging	Het
Pip5kl1	A	G	2: 32,469,101 (GRCm39)	Y211C	possibly damaging	Het
Prrt4	A	T	6: 29,170,035 (GRCm39)	S806T	possibly damaging	Het
Ptpn20	T	A	14: 33,352,902 (GRCm39)	Y214N	probably damaging	Het
Ptprt	A	T	2: 161,417,661 (GRCm39)	N938K	probably damaging	Het
Scn2a	G	T	2: 65,594,013 (GRCm39)	V1621L	probably benign	Het
Sf3b1	A	T	1: 55,042,508 (GRCm39)	S461T	probably benign	Het
Slc22a2	C	T	17: 12,828,917 (GRCm39)	T341I	probably damaging	Het
Slc38a7	A	T	8: 96,568,295 (GRCm39)	D363E	probably benign	Het
Slc6a5	T	C	7: 49,598,090 (GRCm39)		probably null	Het
Smo	T	A	6: 29,759,851 (GRCm39)	V650E	probably damaging	Het
Spata17	G	A	1: 186,872,577 (GRCm39)	T31I	unknown	Het
Sstr2	T	A	11: 113,515,423 (GRCm39)	I114N	possibly damaging	Het
Styxl1	T	C	5: 135,788,023 (GRCm39)	Y146C	probably damaging	Het
Synpo2l	T	C	14: 20,711,243 (GRCm39)	Q688R	possibly damaging	Het
Tmem245	C	T	4: 56,925,155 (GRCm39)	R322H	probably benign	Het
Tnxb	A	G	17: 34,890,398 (GRCm39)	E247G	unknown	Het
Ttc28	A	T	5: 111,414,544 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,718,416 (GRCm39)	I7255N	unknown	Het
Ttn	C	A	2: 76,652,768 (GRCm39)		probably null	Het
Unc13b	C	T	4: 43,165,791 (GRCm39)	R204C	probably damaging	Het
Utrn	A	G	10: 12,619,787 (GRCm39)		probably null	Het
Vps53	A	T	11: 75,937,962 (GRCm39)	F753I	probably damaging	Het
Ypel1	G	T	16: 16,918,124 (GRCm39)	S97R	probably benign	Het
Zdbf2	A	G	1: 63,343,264 (GRCm39)	T548A	possibly damaging	Het
Zfp747	G	A	7: 126,973,672 (GRCm39)	T166M	probably damaging	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
IGL02996:Senp3	APN	11	69,565,086 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CTCTGGAGGATGTAGCATGG -3'
(R):5'- AGCTTGTCCATGAGCATTCTCG -3'

Sequencing Primer
(F):5'- TGGAGGGTTCCCTTACGCATC -3'
(R):5'- ATGAGCATTCTCGTGTCTCTTTG -3'

Posted On

2019-11-26