Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01431:Senp1'

84113

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Senp1

Ensembl Gene

ENSMUSG00000033075

Gene Name

SUMO1/sentrin specific peptidase 1

Synonyms

2310046A20Rik, D15Ertd528e, E330036L07Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01431

Quality Score

Status

Chromosome

Chromosomal Location

98038744-98093744 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98082263 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 67 (Y67C)

Ref Sequence

ENSEMBL: ENSMUSP00000138032 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044189] [ENSMUST00000180657] [ENSMUST00000180716] [ENSMUST00000183105]

Predicted Effect

probably benign
Transcript: ENSMUST00000044189
AA Change: Y67C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000046598
Gene: ENSMUSG00000033075
AA Change: Y67C

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 benign
Transcript: ENSMUST00000180657
AA Change: Y67C

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000138056
Gene: ENSMUSG00000033075
AA Change: Y67C

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

probably damaging
Transcript: ENSMUST00000180716
AA Change: Y67C

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138032
Gene: ENSMUSG00000033075
AA Change: Y67C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181349

Predicted Effect

probably benign
Transcript: ENSMUST00000183105

Coding Region Coverage

Validation Efficiency

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	A	T	2: 111,225,395		probably benign	Het
Adamts7	A	G	9: 90,207,785	I897T	possibly damaging	Het
Aqp2	G	A	15: 99,579,420	V90M	possibly damaging	Het
Atf6	T	C	1: 170,853,002		probably benign	Het
Cdh3	T	C	8: 106,547,669	Y607H	probably damaging	Het
Cer1	T	A	4: 82,882,831	E198D	probably benign	Het
Dscam	A	G	16: 96,652,078		probably null	Het
Ecel1	C	T	1: 87,151,504	R484H	probably damaging	Het
Entpd7	C	A	19: 43,729,839	H575Q	probably benign	Het
F11r	T	C	1: 171,462,909	V279A	probably damaging	Het
Gm17093	T	A	14: 44,521,665		probably benign	Het
Got1	T	A	19: 43,503,049	K321*	probably null	Het
Gpn1	T	C	5: 31,507,538	V302A	probably benign	Het
Hivep1	G	T	13: 42,158,017	K1244N	probably damaging	Het
Idh3b	T	C	2: 130,281,897	T116A	possibly damaging	Het
Itgb4	C	A	11: 116,006,457		probably benign	Het
Mybl1	G	T	1: 9,672,647	L579I	probably damaging	Het
Myh14	T	A	7: 44,614,358	T1694S	probably null	Het
Mylk3	T	C	8: 85,336,401	D537G	probably damaging	Het
Myo1d	A	C	11: 80,674,839	F387V	probably damaging	Het
Nek9	T	C	12: 85,314,587	Y448C	probably benign	Het
Olfr1090	A	T	2: 86,754,164	H191Q	probably benign	Het
Paxbp1	T	C	16: 91,035,916		probably benign	Het
Retreg2	T	A	1: 75,145,105		probably null	Het
Ripply3	G	A	16: 94,328,543	C16Y	possibly damaging	Het
Robo3	G	A	9: 37,419,111		probably benign	Het
Rrm1	C	A	7: 102,457,552		probably benign	Het
Rsad2	T	A	12: 26,448,667	R269S	probably benign	Het
Sbp	A	T	17: 23,945,348		probably benign	Het
Schip1	A	T	3: 68,617,777	Q162L	probably damaging	Het
Slc25a25	C	T	2: 32,419,091	R233K	probably damaging	Het
Smoc1	C	A	12: 81,152,751	S220*	probably null	Het
Stab1	C	A	14: 31,148,995	R1299I	probably benign	Het
Stk17b	A	G	1: 53,765,915		probably benign	Het
Tmc7	T	G	7: 118,552,762	D312A	probably damaging	Het
Vmn1r79	T	C	7: 12,176,400	S70P	possibly damaging	Het
Zfc3h1	C	A	10: 115,423,223	T1591K	possibly damaging	Het

Other mutations in Senp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00684:Senp1	APN	15	98064838	missense	probably damaging	1.00
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
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
R8318:Senp1	UTSW	15	98064867	missense	probably damaging	1.00
R8368:Senp1	UTSW	15	98045374	missense	probably damaging	1.00

Posted On

2013-11-11