Mutagenetix > Incidental Mutation

Incidental Mutation 'R2045:Senp1'

221878

Institutional Source

Beutler Lab

Gene Symbol

Senp1

Ensembl Gene

ENSMUSG00000033075

Gene Name

SUMO1/sentrin specific peptidase 1

Synonyms

D15Ertd528e, E330036L07Rik, 2310046A20Rik

MMRRC Submission

040052-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2045 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97936625-97991625 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97957825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 358 (F358I)

Ref Sequence

ENSEMBL: ENSMUSP00000138056 (fasta)

Gene Model

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

AlphaFold

P59110

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044189
AA Change: F332I

PolyPhen 2 Score 0.566 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000046598
Gene: ENSMUSG00000033075
AA Change: F332I

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

possibly damaging
Transcript: ENSMUST00000180657
AA Change: F358I

PolyPhen 2 Score 0.566 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000138056
Gene: ENSMUSG00000033075
AA Change: F358I

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 benign
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181855

Meta Mutation Damage Score

0.2318

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.6%

Validation Efficiency

100% (74/74)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	C	T	19: 34,220,799 (GRCm39)	G303E	probably damaging	Het
Adamts1	A	T	16: 85,592,864 (GRCm39)	Y515N	probably damaging	Het
Ankef1	T	C	2: 136,396,658 (GRCm39)	V695A	probably benign	Het
Ankrd63	C	A	2: 118,533,834 (GRCm39)		probably benign	Het
Asah2	A	T	19: 32,030,356 (GRCm39)	N105K	probably benign	Het
Atf2	A	C	2: 73,693,552 (GRCm39)	D3E	probably damaging	Het
Atp5pb	T	C	3: 105,851,190 (GRCm39)		probably benign	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Bms1	A	C	6: 118,369,588 (GRCm39)	L960W	probably damaging	Het
Cacna1c	A	G	6: 118,633,098 (GRCm39)	V977A	probably damaging	Het
Cadps2	A	G	6: 23,839,121 (GRCm39)	S6P	possibly damaging	Het
Capn8	A	G	1: 182,440,951 (GRCm39)	T462A	probably benign	Het
Cd226	T	C	18: 89,225,486 (GRCm39)	S128P	probably benign	Het
Cd33	G	T	7: 43,179,316 (GRCm39)	H278N	probably benign	Het
Cdh1	T	C	8: 107,392,814 (GRCm39)		probably benign	Het
Cfap54	T	C	10: 92,874,671 (GRCm39)		probably null	Het
Chit1	A	G	1: 134,078,882 (GRCm39)	I397M	probably benign	Het
Cic	C	A	7: 24,970,961 (GRCm39)	Q231K	possibly damaging	Het
Clca4b	A	G	3: 144,630,924 (GRCm39)	V312A	probably damaging	Het
Cngb1	T	A	8: 96,023,713 (GRCm39)		probably null	Het
Cyfip2	T	C	11: 46,140,616 (GRCm39)	I430V	probably benign	Het
Dnah12	A	G	14: 26,503,485 (GRCm39)	E1613G	probably null	Het
Dock2	T	C	11: 34,244,106 (GRCm39)		probably null	Het
Dync2h1	A	T	9: 7,160,171 (GRCm39)	F646I	probably damaging	Het
Eef1b2	A	T	1: 63,218,646 (GRCm39)	K144*	probably null	Het
Erap1	T	C	13: 74,817,569 (GRCm39)	V137A	probably benign	Het
Far1	A	T	7: 113,138,478 (GRCm39)		probably null	Het
Fbn2	A	T	18: 58,223,730 (GRCm39)	C807S	probably damaging	Het
Fgfr1	A	G	8: 26,048,231 (GRCm39)	K209R	probably benign	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Frem2	A	T	3: 53,443,165 (GRCm39)	V2533D	probably damaging	Het
Hip1r	T	C	5: 124,138,794 (GRCm39)	M839T	probably benign	Het
Igfbp2	A	G	1: 72,891,310 (GRCm39)	S303G	probably benign	Het
Insyn2a	T	G	7: 134,520,159 (GRCm39)	K124Q	probably damaging	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Itgb3	T	G	11: 104,514,239 (GRCm39)	S27A	probably benign	Het
Kif21b	G	A	1: 136,088,051 (GRCm39)	D1015N	probably damaging	Het
Krt7	A	T	15: 101,321,365 (GRCm39)		probably null	Het
Krtdap	T	A	7: 30,490,010 (GRCm39)	F80L	probably benign	Het
Lcp1	A	T	14: 75,437,841 (GRCm39)	T84S	probably benign	Het
Lipi	G	A	16: 75,347,087 (GRCm39)	T444I	probably damaging	Het
Lrguk	A	T	6: 34,048,003 (GRCm39)	E316V	probably damaging	Het
Lypd1	G	A	1: 125,838,272 (GRCm39)		probably benign	Het
Med12l	A	T	3: 59,169,731 (GRCm39)	K1632*	probably null	Het
Mrgpra9	A	T	7: 46,885,583 (GRCm39)	M28K	probably benign	Het
Mylk	A	G	16: 34,774,023 (GRCm39)	K1291E	probably benign	Het
Nek4	T	A	14: 30,675,880 (GRCm39)	W72R	probably damaging	Het
Nudt8	T	C	19: 4,051,899 (GRCm39)	V170A	probably damaging	Het
Oosp3	T	A	19: 11,676,733 (GRCm39)	Y31N	probably benign	Het
Padi2	A	T	4: 140,665,241 (GRCm39)	R449W	probably damaging	Het
Pcf11	G	T	7: 92,311,087 (GRCm39)	N300K	probably damaging	Het
Pcsk5	T	C	19: 17,558,508 (GRCm39)	D633G	possibly damaging	Het
Phlpp2	T	A	8: 110,634,232 (GRCm39)	W271R	probably damaging	Het
Pikfyve	T	C	1: 65,292,512 (GRCm39)	V1276A	probably benign	Het
Pkhd1l1	A	T	15: 44,343,050 (GRCm39)	N176Y	probably damaging	Het
Pop5	T	G	5: 115,376,271 (GRCm39)	V33G	possibly damaging	Het
Prkag2	A	G	5: 25,152,580 (GRCm39)	F175L	possibly damaging	Het
Ptpn22	T	A	3: 103,781,337 (GRCm39)	D79E	possibly damaging	Het
Rab32	T	G	10: 10,426,577 (GRCm39)	D123A	probably damaging	Het
Rnpc3	T	C	3: 113,402,009 (GRCm39)	K513E	possibly damaging	Het
Sft2d2	A	G	1: 165,012,647 (GRCm39)	L83P	probably damaging	Het
Slc9c1	G	A	16: 45,400,613 (GRCm39)	R741H	probably damaging	Het
Smad4	A	T	18: 73,782,877 (GRCm39)	Y352*	probably null	Het
Tamm41	T	A	6: 114,993,056 (GRCm39)	Q232H	probably benign	Het
Tbx6	T	A	7: 126,382,055 (GRCm39)	L131Q	probably damaging	Het
Trappc10	T	C	10: 78,045,313 (GRCm39)		probably benign	Het
Trp53bp1	C	A	2: 121,034,964 (GRCm39)	A108S	probably benign	Het
Tut7	T	C	13: 59,948,470 (GRCm39)	Y215C	probably damaging	Het
Unc13b	G	A	4: 43,091,266 (GRCm39)	V31M	probably damaging	Het
Usp24	T	C	4: 106,258,177 (GRCm39)	M1525T	possibly damaging	Het
Vax2	G	A	6: 83,688,252 (GRCm39)		probably benign	Het
Vcan	T	A	13: 89,839,104 (GRCm39)	I2147L	probably benign	Het
Zbtb7a	C	A	10: 80,980,244 (GRCm39)	A146E	probably benign	Het
Zfp287	A	G	11: 62,618,395 (GRCm39)	L157P	probably damaging	Het

Other mutations in Senp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00684:Senp1	APN	15	97,962,719 (GRCm39)	missense	probably damaging	1.00
IGL01431:Senp1	APN	15	97,980,144 (GRCm39)	missense	probably damaging	0.97
IGL02674:Senp1	APN	15	97,954,840 (GRCm39)	missense	probably damaging	0.99
IGL03289:Senp1	APN	15	97,982,926 (GRCm39)	missense	probably damaging	1.00
Calmate	UTSW	15	97,964,379 (GRCm39)	missense	probably benign	0.00
mustard	UTSW	15	97,946,152 (GRCm39)	missense	probably damaging	1.00
nitrogen	UTSW	15	97,964,412 (GRCm39)	missense	possibly damaging	0.61
Sinapis	UTSW	15	97,962,761 (GRCm39)	splice site	probably benign
PIT1430001:Senp1	UTSW	15	97,982,870 (GRCm39)	missense	probably damaging	1.00
R0026:Senp1	UTSW	15	97,974,549 (GRCm39)	missense	probably damaging	0.99
R0026:Senp1	UTSW	15	97,974,549 (GRCm39)	missense	probably damaging	0.99
R0125:Senp1	UTSW	15	97,946,112 (GRCm39)	missense	probably damaging	0.99
R0531:Senp1	UTSW	15	97,962,761 (GRCm39)	splice site	probably benign
R1389:Senp1	UTSW	15	97,973,734 (GRCm39)	missense	probably benign	0.03
R1396:Senp1	UTSW	15	97,974,435 (GRCm39)	missense	probably benign	0.01
R1786:Senp1	UTSW	15	97,973,848 (GRCm39)	missense	probably benign	0.00
R1999:Senp1	UTSW	15	97,956,196 (GRCm39)	missense	possibly damaging	0.61
R2130:Senp1	UTSW	15	97,973,848 (GRCm39)	missense	probably benign	0.00
R2132:Senp1	UTSW	15	97,973,848 (GRCm39)	missense	probably benign	0.00
R2133:Senp1	UTSW	15	97,973,848 (GRCm39)	missense	probably benign	0.00
R2150:Senp1	UTSW	15	97,956,196 (GRCm39)	missense	possibly damaging	0.61
R2327:Senp1	UTSW	15	97,980,165 (GRCm39)	missense	probably damaging	1.00
R3815:Senp1	UTSW	15	97,954,713 (GRCm39)	missense	probably damaging	1.00
R4719:Senp1	UTSW	15	97,954,731 (GRCm39)	missense	probably benign	0.42
R4766:Senp1	UTSW	15	97,943,777 (GRCm39)	missense	probably damaging	0.98
R4866:Senp1	UTSW	15	97,964,729 (GRCm39)	missense	possibly damaging	0.93
R5141:Senp1	UTSW	15	97,974,488 (GRCm39)	missense	probably benign	0.08
R5485:Senp1	UTSW	15	97,964,377 (GRCm39)	missense	probably benign	0.00
R5651:Senp1	UTSW	15	97,974,498 (GRCm39)	missense	probably benign
R5668:Senp1	UTSW	15	97,946,236 (GRCm39)	missense	probably damaging	1.00
R5729:Senp1	UTSW	15	97,964,412 (GRCm39)	missense	possibly damaging	0.61
R6041:Senp1	UTSW	15	97,956,097 (GRCm39)	missense	probably damaging	0.97
R6395:Senp1	UTSW	15	97,946,074 (GRCm39)	missense	probably damaging	1.00
R6521:Senp1	UTSW	15	97,946,152 (GRCm39)	missense	probably damaging	1.00
R7070:Senp1	UTSW	15	97,980,187 (GRCm39)	missense	possibly damaging	0.66
R7075:Senp1	UTSW	15	97,956,207 (GRCm39)	missense	probably benign	0.00
R7262:Senp1	UTSW	15	97,964,379 (GRCm39)	missense	probably benign	0.00
R7625:Senp1	UTSW	15	97,964,679 (GRCm39)	missense	probably benign	0.10
R8318:Senp1	UTSW	15	97,962,748 (GRCm39)	missense	probably damaging	1.00
R8368:Senp1	UTSW	15	97,943,255 (GRCm39)	missense	probably damaging	1.00
R8946:Senp1	UTSW	15	97,940,782 (GRCm39)	missense	probably damaging	0.96
R9373:Senp1	UTSW	15	97,964,435 (GRCm39)	missense	probably benign	0.00
R9650:Senp1	UTSW	15	97,946,248 (GRCm39)	missense	probably damaging	1.00
R9756:Senp1	UTSW	15	97,957,806 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- GTTGACAAATATGAGAACAGACATCTC -3'
(R):5'- TGGGCTAAATAAACTTCATTCTCCTC -3'

Sequencing Primer
(F):5'- AGAACTCCAGACGACTTGGGTTC -3'
(R):5'- GGAGTCCTACAAACTGTTGA -3'

Posted On

2014-08-25