Mutagenetix > Incidental Mutation

Incidental Mutation 'R9079:Senp5'

689919

Institutional Source

Beutler Lab

Gene Symbol

Senp5

Ensembl Gene

ENSMUSG00000022772

Gene Name

SUMO/sentrin specific peptidase 5

Synonyms

A730063F07Rik, 6230429P13Rik

MMRRC Submission

068899-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9079 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31778490-31822105 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31787718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 635 (I635N)

Ref Sequence

ENSEMBL: ENSMUSP00000023457 (fasta)

Gene Model

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

AlphaFold

Q6NXL6

Predicted Effect

probably damaging
Transcript: ENSMUST00000023457
AA Change: I635N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023457
Gene: ENSMUSG00000022772
AA Change: I635N

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

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 damaging
Transcript: ENSMUST00000231360
AA Change: I635N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.9493

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (51/52)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atad2	A	T	15: 57,989,223 (GRCm39)	S212R	probably benign	Het
Bcl9	A	T	3: 97,112,816 (GRCm39)	V1213E	probably damaging	Het
Brd1	T	C	15: 88,598,153 (GRCm39)	D531G	probably damaging	Het
Cd1d1	T	A	3: 86,906,197 (GRCm39)	Y26F	probably benign	Het
Cep83	T	C	10: 94,564,541 (GRCm39)	F160S	possibly damaging	Het
Cfap61	G	T	2: 145,781,859 (GRCm39)	V31F	probably benign	Het
Cox11	G	A	11: 90,535,246 (GRCm39)	M232I	probably damaging	Het
Cpne7	C	T	8: 123,856,951 (GRCm39)	P402L	probably damaging	Het
Cubn	A	G	2: 13,291,914 (GRCm39)	S3304P	probably benign	Het
Eif4b	T	A	15: 102,003,177 (GRCm39)	D549E	unknown	Het
Extl1	T	A	4: 134,089,975 (GRCm39)	N378Y	probably damaging	Het
Fbxo4	C	T	15: 3,998,388 (GRCm39)		probably null	Het
Fhip1a	C	A	3: 85,579,590 (GRCm39)	G872*	probably null	Het
G430095P16Rik	A	T	8: 85,453,412 (GRCm39)	H133L	unknown	Het
Gm8138	A	T	14: 43,272,502 (GRCm39)	N104K		Het
Gzma	A	G	13: 113,232,858 (GRCm39)	F78S	probably benign	Het
Hars2	T	C	18: 36,923,190 (GRCm39)	S400P	possibly damaging	Het
Hnrnpm	G	T	17: 33,868,775 (GRCm39)	R551S	probably damaging	Het
Htr5b	T	A	1: 121,455,816 (GRCm39)	T35S	probably benign	Het
Jak3	A	C	8: 72,131,898 (GRCm39)	E158A	probably benign	Het
Kctd16	A	G	18: 40,390,080 (GRCm39)		probably benign	Het
Kdm4c	C	A	4: 74,277,738 (GRCm39)	D797E	probably benign	Het
Klhl31	T	A	9: 77,558,151 (GRCm39)	V289E	probably damaging	Het
Loxhd1	T	C	18: 77,490,593 (GRCm39)	S1398P	probably benign	Het
Matn4	A	T	2: 164,235,473 (GRCm39)		probably benign	Het
Mrps28	A	G	3: 8,867,308 (GRCm39)	*187Q	probably null	Het
Myh7b	G	A	2: 155,465,174 (GRCm39)	V677I	probably damaging	Het
Naip1	A	T	13: 100,559,727 (GRCm39)	D1092E	probably benign	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Notch3	A	T	17: 32,383,033 (GRCm39)		probably benign	Het
Nr1h2	C	A	7: 44,199,430 (GRCm39)	E440D	possibly damaging	Het
Or1l4b	T	C	2: 37,036,989 (GRCm39)	V255A	probably damaging	Het
Or6c207	A	T	10: 129,104,466 (GRCm39)	M242K	possibly damaging	Het
Or7g16	A	T	9: 18,726,731 (GRCm39)	N286K	probably damaging	Het
Or8g2b	T	A	9: 39,750,769 (GRCm39)	I13N	probably benign	Het
Osbpl9	A	T	4: 108,920,644 (GRCm39)	V543D	possibly damaging	Het
Pcgf6	T	C	19: 47,039,053 (GRCm39)	E69G	possibly damaging	Het
Piezo2	A	G	18: 63,157,537 (GRCm39)	L2391P	probably damaging	Het
Rcn2	T	A	9: 55,952,393 (GRCm39)		probably benign	Het
Ripor2	G	A	13: 24,915,637 (GRCm39)	R1069H	probably benign	Het
Ro60	A	C	1: 143,641,519 (GRCm39)	L314R	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Slc30a9	A	T	5: 67,484,241 (GRCm39)	K126M	possibly damaging	Het
Slc9b2	A	T	3: 135,042,150 (GRCm39)	R476S	probably damaging	Het
Sptb	G	T	12: 76,677,454 (GRCm39)	R127S	probably damaging	Het
Svil	T	C	18: 5,056,308 (GRCm39)	S394P	probably benign	Het
Tjp1	A	T	7: 64,950,966 (GRCm39)	I1636N	possibly damaging	Het
Tlcd5	C	T	9: 43,022,664 (GRCm39)	R230Q	probably benign	Het
Trio	T	C	15: 27,733,023 (GRCm39)	I2953V	possibly damaging	Het
Ttn	A	G	2: 76,632,734 (GRCm39)	F14107L	probably damaging	Het
Usp20	A	G	2: 30,895,120 (GRCm39)		probably benign	Het
Vmn1r123	A	T	7: 20,896,979 (GRCm39)	L290F	probably benign	Het
Vmn1r202	T	C	13: 22,685,602 (GRCm39)	M272V	probably benign	Het
Vmn2r97	A	T	17: 19,149,640 (GRCm39)	N343Y	probably benign	Het
Wdr90	A	T	17: 26,076,403 (GRCm39)	W45R		Het

Other mutations in Senp5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00838:Senp5	APN	16	31,807,991 (GRCm39)	missense	probably damaging	1.00
IGL00990:Senp5	APN	16	31,809,092 (GRCm39)	missense	probably benign	0.00
IGL01707:Senp5	APN	16	31,808,588 (GRCm39)	missense	probably damaging	0.99
IGL01923:Senp5	APN	16	31,784,634 (GRCm39)	missense	probably damaging	1.00
IGL01997:Senp5	APN	16	31,782,288 (GRCm39)	missense	probably damaging	0.97
IGL02273:Senp5	APN	16	31,808,690 (GRCm39)	missense	probably benign	0.14
IGL02560:Senp5	APN	16	31,808,210 (GRCm39)	missense	probably benign
IGL02651:Senp5	APN	16	31,808,897 (GRCm39)	missense	probably benign	0.04
IGL02830:Senp5	APN	16	31,802,303 (GRCm39)	splice site	probably benign
R0578:Senp5	UTSW	16	31,808,163 (GRCm39)	missense	possibly damaging	0.75
R1879:Senp5	UTSW	16	31,802,642 (GRCm39)	missense	probably damaging	1.00
R2153:Senp5	UTSW	16	31,787,692 (GRCm39)	missense	probably damaging	1.00
R4903:Senp5	UTSW	16	31,802,117 (GRCm39)	missense	probably damaging	1.00
R5092:Senp5	UTSW	16	31,807,960 (GRCm39)	missense	probably benign	0.00
R5590:Senp5	UTSW	16	31,808,331 (GRCm39)	missense	probably damaging	0.99
R6346:Senp5	UTSW	16	31,802,665 (GRCm39)	missense	probably damaging	1.00
R6362:Senp5	UTSW	16	31,808,702 (GRCm39)	missense	probably damaging	0.99
R6762:Senp5	UTSW	16	31,808,702 (GRCm39)	missense	probably damaging	0.99
R7002:Senp5	UTSW	16	31,802,593 (GRCm39)	missense	probably damaging	1.00
R7027:Senp5	UTSW	16	31,808,113 (GRCm39)	missense	probably benign
R7436:Senp5	UTSW	16	31,794,847 (GRCm39)	missense	unknown
R7721:Senp5	UTSW	16	31,809,252 (GRCm39)	start codon destroyed	unknown
R7847:Senp5	UTSW	16	31,808,991 (GRCm39)	missense	probably benign	0.25
R7992:Senp5	UTSW	16	31,796,514 (GRCm39)	missense	probably damaging	1.00
R8081:Senp5	UTSW	16	31,784,577 (GRCm39)	missense	probably damaging	1.00
R8147:Senp5	UTSW	16	31,808,128 (GRCm39)	missense	probably benign	0.00
R8313:Senp5	UTSW	16	31,808,117 (GRCm39)	missense	probably benign	0.10
R8353:Senp5	UTSW	16	31,808,166 (GRCm39)	missense	probably benign	0.00
R8453:Senp5	UTSW	16	31,808,166 (GRCm39)	missense	probably benign	0.00
R8506:Senp5	UTSW	16	31,787,719 (GRCm39)	missense	probably damaging	1.00
R9317:Senp5	UTSW	16	31,802,390 (GRCm39)	missense	probably damaging	1.00
R9776:Senp5	UTSW	16	31,782,279 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGAAGCTCAGTCACCCTGC -3'
(R):5'- TGAGACATAGGTTCAAGTTCTGCTTC -3'

Sequencing Primer
(F):5'- TCTGGTCATCCTCAAAGCAG -3'
(R):5'- ATAGGTTCAAGTTCTGCTTCACCTC -3'

Posted On

2021-11-19