Mutagenetix > Incidental Mutations

Incidental Mutation 'R0026:Senp1'

15081

Institutional Source

Beutler Lab

Gene Symbol

Senp1

Ensembl Gene

ENSMUSG00000033075

Gene Name

SUMO1/sentrin specific peptidase 1

Synonyms

2310046A20Rik, D15Ertd528e, E330036L07Rik

MMRRC Submission

038321-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0026 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

98038744-98093744 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98076668 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 88 (R88G)

Ref Sequence

ENSEMBL: ENSMUSP00000138056 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044189] [ENSMUST00000180657] [ENSMUST00000180716]

Predicted Effect

probably damaging
Transcript: ENSMUST00000044189
AA Change: R88G

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000046598
Gene: ENSMUSG00000033075
AA Change: R88G

Domain	Start	End	E-Value	Type
low complexity region	38	47	N/A	INTRINSIC
low complexity region	183	192	N/A	INTRINSIC
low complexity region	223	235	N/A	INTRINSIC
low complexity region	246	261	N/A	INTRINSIC
low complexity region	357	375	N/A	INTRINSIC
Pfam:Peptidase_C48	460	638	1.3e-49	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000180657
AA Change: R88G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138056
Gene: ENSMUSG00000033075
AA Change: R88G

Domain	Start	End	E-Value	Type
low complexity region	38	47	N/A	INTRINSIC
low complexity region	183	192	N/A	INTRINSIC
low complexity region	223	235	N/A	INTRINSIC
low complexity region	246	261	N/A	INTRINSIC
low complexity region	383	401	N/A	INTRINSIC
Pfam:Peptidase_C48	486	664	2e-49	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000180716

SMART Domains

Protein: ENSMUSP00000138032
Gene: ENSMUSG00000033075

Domain	Start	End	E-Value	Type
low complexity region	38	47	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181349

Meta Mutation Damage Score

0.1193

Coding Region Coverage

1x: 78.7%
3x: 68.7%
10x: 42.4%
20x: 22.6%

Validation Efficiency

96% (75/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cysteine protease that specifically targets members of the small ubiquitin-like modifier (SUMO) protein family. This protease regulates SUMO pathways by deconjugating sumoylated proteins. This protease also functions to process the precursor SUMO proteins into their mature form. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
PHENOTYPE: Homozygous mutant mice die before birth. Depending on the allele mice may exhibit placental labyrinth defects and widespread cell death or severe anemia and a defect in definitive erythropoiesis in the fetal liver. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	T	A	1: 26,683,369	D910V	probably benign	Het
Abca16	C	T	7: 120,477,923		probably benign	Het
Acot10	G	A	15: 20,666,236	L140F	probably benign	Het
Asph	A	C	4: 9,601,361	S129A	probably damaging	Het
Atrn	T	C	2: 130,957,920	Y406H	probably damaging	Het
B4galt3	C	T	1: 171,274,261		probably benign	Het
BC016579	T	C	16: 45,640,367	T113A	probably benign	Het
Bmpr1b	A	G	3: 141,870,733	L113P	probably benign	Het
Casq1	T	C	1: 172,219,400		probably benign	Het
Ccdc187	T	C	2: 26,281,353	D371G	probably benign	Het
Clstn1	G	A	4: 149,634,796	V361M	probably damaging	Het
Cyp4b1	C	T	4: 115,647,521	G56D	possibly damaging	Het
Dock5	C	A	14: 67,846,081	E126D	probably benign	Het
Exph5	A	T	9: 53,376,479	D1620V	probably benign	Het
Fancd2os	G	T	6: 113,597,691	T118N	probably damaging	Het
Fli1	A	G	9: 32,476,584	Y37H	probably damaging	Het
Gm17521	G	A	X: 123,029,542	S43L	probably benign	Het
Gnb3	A	G	6: 124,837,417	V135A	probably benign	Het
Ibtk	A	G	9: 85,690,303	V1278A	probably benign	Het
Ighv1-58	G	A	12: 115,312,287	T77I	probably benign	Het
Lgsn	T	A	1: 31,203,443	V202D	probably damaging	Het
Madd	A	G	2: 91,175,708	F381L	possibly damaging	Het
Ntf3	T	A	6: 126,101,805	N246I	probably damaging	Het
Pds5b	G	A	5: 150,749,830		probably benign	Het
Ppp3cb	C	T	14: 20,531,768	V60I	probably benign	Het
Prc1	T	C	7: 80,311,061		probably benign	Het
Prpf31	T	A	7: 3,639,668	N413K	probably benign	Het
Rapgef5	T	C	12: 117,689,161	S307P	probably benign	Het
Rbfox2	T	C	15: 77,084,157	T435A	possibly damaging	Het
Slc35b1	T	C	11: 95,390,642	S294P	probably benign	Het
Slc44a5	G	A	3: 154,240,270		probably benign	Het
Taf1d	T	A	9: 15,308,648	S64R	probably damaging	Het
Trim6	T	A	7: 104,225,809		probably null	Het
Ttn	T	C	2: 76,769,190	T19186A	probably damaging	Het
Uchl4	A	T	9: 64,235,371		probably null	Het
Usp32	T	C	11: 85,032,074	S673G	possibly damaging	Het
Utrn	T	C	10: 12,726,196		probably benign	Het
Vps13b	T	C	15: 35,923,301	I3774T	possibly damaging	Het
Vwa3a	A	G	7: 120,780,211	Q513R	probably damaging	Het
Yipf1	T	A	4: 107,345,160	L240*	probably null	Het

Other mutations in Senp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00684:Senp1	APN	15	98064838	missense	probably damaging	1.00
IGL01431:Senp1	APN	15	98082263	missense	probably damaging	0.97
IGL02674:Senp1	APN	15	98056959	missense	probably damaging	0.99
IGL03289:Senp1	APN	15	98085045	missense	probably damaging	1.00
Calmate	UTSW	15	98066498	missense	probably benign	0.00
mustard	UTSW	15	98048271	missense	probably damaging	1.00
nitrogen	UTSW	15	98066531	missense	possibly damaging	0.61
Sinapis	UTSW	15	98064880	splice site	probably benign
PIT1430001:Senp1	UTSW	15	98084989	missense	probably damaging	1.00
R0026:Senp1	UTSW	15	98076668	missense	probably damaging	0.99
R0125:Senp1	UTSW	15	98048231	missense	probably damaging	0.99
R0531:Senp1	UTSW	15	98064880	splice site	probably benign
R1389:Senp1	UTSW	15	98075853	missense	probably benign	0.03
R1396:Senp1	UTSW	15	98076554	missense	probably benign	0.01
R1786:Senp1	UTSW	15	98075967	missense	probably benign	0.00
R1999:Senp1	UTSW	15	98058315	missense	possibly damaging	0.61
R2045:Senp1	UTSW	15	98059944	missense	possibly damaging	0.57
R2130:Senp1	UTSW	15	98075967	missense	probably benign	0.00
R2132:Senp1	UTSW	15	98075967	missense	probably benign	0.00
R2133:Senp1	UTSW	15	98075967	missense	probably benign	0.00
R2150:Senp1	UTSW	15	98058315	missense	possibly damaging	0.61
R2327:Senp1	UTSW	15	98082284	missense	probably damaging	1.00
R3815:Senp1	UTSW	15	98056832	missense	probably damaging	1.00
R4719:Senp1	UTSW	15	98056850	missense	probably benign	0.42
R4766:Senp1	UTSW	15	98045896	missense	probably damaging	0.98
R4866:Senp1	UTSW	15	98066848	missense	possibly damaging	0.93
R5141:Senp1	UTSW	15	98076607	missense	probably benign	0.08
R5485:Senp1	UTSW	15	98066496	missense	probably benign	0.00
R5651:Senp1	UTSW	15	98076617	missense	probably benign
R5668:Senp1	UTSW	15	98048355	missense	probably damaging	1.00
R5729:Senp1	UTSW	15	98066531	missense	possibly damaging	0.61
R6041:Senp1	UTSW	15	98058216	missense	probably damaging	0.97
R6395:Senp1	UTSW	15	98048193	missense	probably damaging	1.00
R6521:Senp1	UTSW	15	98048271	missense	probably damaging	1.00
R7070:Senp1	UTSW	15	98082306	missense	possibly damaging	0.66
R7075:Senp1	UTSW	15	98058326	missense	probably benign	0.00
R7262:Senp1	UTSW	15	98066498	missense	probably benign	0.00
R7625:Senp1	UTSW	15	98066798	missense	probably benign	0.10

Posted On

2012-12-12