Mutagenetix > Incidental Mutation

Incidental Mutation 'R2130:Senp1'

227995

Institutional Source

Beutler Lab

Gene Symbol

Senp1

Ensembl Gene

ENSMUSG00000033075

Gene Name

SUMO1/sentrin specific peptidase 1

Synonyms

D15Ertd528e, E330036L07Rik, 2310046A20Rik

MMRRC Submission

040133-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2130 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97936625-97991625 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 97973848 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 132 (T132S)

Ref Sequence

ENSEMBL: ENSMUSP00000138056 (fasta)

Gene Model

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

AlphaFold

P59110

Predicted Effect

probably benign
Transcript: ENSMUST00000044189
AA Change: T132S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000046598
Gene: ENSMUSG00000033075
AA Change: T132S

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: T132S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000138056
Gene: ENSMUSG00000033075
AA Change: T132S

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

94% (94/100)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,553,223 (GRCm39)	N178I	probably damaging	Het
Aadacl2fm3	T	C	3: 59,772,769 (GRCm39)	V91A	probably damaging	Het
Adgrl2	T	C	3: 148,596,124 (GRCm39)	I71V	probably damaging	Het
Adgrv1	T	C	13: 81,729,846 (GRCm39)	T212A	possibly damaging	Het
Aopep	T	A	13: 63,357,963 (GRCm39)	C656S	probably benign	Het
Aox3	A	G	1: 58,209,002 (GRCm39)	H845R	probably damaging	Het
Apaf1	A	T	10: 90,896,027 (GRCm39)	Y348*	probably null	Het
Apobr	A	G	7: 126,186,378 (GRCm39)	T630A	probably benign	Het
Arhgap23	A	G	11: 97,342,387 (GRCm39)	D223G	possibly damaging	Het
Asic1	A	T	15: 99,569,756 (GRCm39)	T26S	possibly damaging	Het
Atp13a2	T	A	4: 140,732,327 (GRCm39)	M864K	probably damaging	Het
Atrnl1	G	A	19: 57,643,426 (GRCm39)	G438D	probably damaging	Het
Bbc3	T	C	7: 16,046,268 (GRCm39)	V68A	possibly damaging	Het
Birc6	T	C	17: 74,966,149 (GRCm39)		probably benign	Het
Btnl9	A	G	11: 49,071,523 (GRCm39)	F100S	probably damaging	Het
Castor2	G	A	5: 134,164,992 (GRCm39)	C187Y	probably damaging	Het
Ccpg1	A	G	9: 72,920,440 (GRCm39)	N685S	probably damaging	Het
Ces3b	T	A	8: 105,819,607 (GRCm39)		probably null	Het
Cfhr2	T	G	1: 139,758,893 (GRCm39)	R52S	probably benign	Het
Clhc1	A	G	11: 29,507,663 (GRCm39)	I126V	probably benign	Het
Crocc	T	C	4: 140,756,413 (GRCm39)	I1071V	probably benign	Het
Dbt	T	A	3: 116,332,773 (GRCm39)	D16E	probably damaging	Het
Dnajc8	T	C	4: 132,271,370 (GRCm39)	S62P	possibly damaging	Het
Dpyd	T	C	3: 118,468,217 (GRCm39)	V77A	probably benign	Het
Dram2	T	A	3: 106,478,076 (GRCm39)	M136K	possibly damaging	Het
Dtx2	T	A	5: 136,040,894 (GRCm39)	F100I	probably damaging	Het
Dync2h1	A	T	9: 7,011,253 (GRCm39)	W3654R	probably damaging	Het
Fbxw10	T	A	11: 62,750,683 (GRCm39)	I422N	probably damaging	Het
Fgf17	T	C	14: 70,875,927 (GRCm39)	R102G	probably damaging	Het
Gm28040	AGTG	AGTGGCACCTTTGGTG	1: 133,255,059 (GRCm39)		probably benign	Het
Gm6578	C	A	6: 12,100,186 (GRCm39)		noncoding transcript	Het
Gm8374	T	C	14: 18,537,078 (GRCm39)	T49A	probably damaging	Het
Gm9797	G	T	10: 11,485,113 (GRCm39)		noncoding transcript	Het
Golga3	T	C	5: 110,350,805 (GRCm39)		probably null	Het
Golim4	A	T	3: 75,815,456 (GRCm39)	V116D	probably damaging	Het
Igfn1	AGGG	AGG	1: 135,902,590 (GRCm39)		probably benign	Het
Insrr	G	A	3: 87,717,879 (GRCm39)		probably null	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,314,006 (GRCm39)		probably benign	Het
Ipo9	A	G	1: 135,329,988 (GRCm39)	V484A	probably benign	Het
Isoc2b	A	T	7: 4,854,438 (GRCm39)	I31N	probably damaging	Het
Kif5c	T	A	2: 49,648,817 (GRCm39)		probably benign	Het
Krtap16-1	A	T	11: 99,876,602 (GRCm39)	C267*	probably null	Het
Lamc2	T	A	1: 153,002,870 (GRCm39)	D1037V	probably damaging	Het
Lhfpl2	A	G	13: 94,328,557 (GRCm39)	D206G	possibly damaging	Het
Lmtk2	C	T	5: 144,111,806 (GRCm39)	T842I	possibly damaging	Het
Mgat2	T	C	12: 69,232,068 (GRCm39)	F214S	probably damaging	Het
Mki67	T	A	7: 135,305,970 (GRCm39)		probably null	Het
Mpo	A	G	11: 87,688,187 (GRCm39)	D282G	possibly damaging	Het
Myh10	A	G	11: 68,698,115 (GRCm39)		probably benign	Het
Myo15b	G	A	11: 115,762,469 (GRCm39)	V1229I	probably benign	Het
Nfatc2ip	A	G	7: 125,989,634 (GRCm39)	V250A	probably benign	Het
Niban2	A	G	2: 32,813,659 (GRCm39)	K624R	probably benign	Het
Nrp1	A	T	8: 129,224,997 (GRCm39)	E782D	probably damaging	Het
Olfml3	T	A	3: 103,643,185 (GRCm39)	M399L	probably benign	Het
Optc	A	T	1: 133,831,534 (GRCm39)		probably null	Het
Or1j13	A	G	2: 36,370,059 (GRCm39)	S28P	possibly damaging	Het
Or2f1	C	A	6: 42,721,069 (GRCm39)	L33M	possibly damaging	Het
Or56a5	T	A	7: 104,792,757 (GRCm39)	I254F	probably benign	Het
Plekha6	C	A	1: 133,207,103 (GRCm39)		probably null	Het
Prelp	C	T	1: 133,842,869 (GRCm39)	R92K	probably benign	Het
Psph	T	A	5: 129,864,603 (GRCm39)		probably null	Het
Ptpro	A	G	6: 137,388,114 (GRCm39)		probably null	Het
Pzp	T	C	6: 128,468,124 (GRCm39)		probably null	Het
Qrich2	C	T	11: 116,339,243 (GRCm39)		probably benign	Het
Ren1	C	G	1: 133,278,516 (GRCm39)		probably null	Het
Rfwd3	A	T	8: 112,024,034 (GRCm39)	V96E	probably benign	Het
Rnf17	T	C	14: 56,730,811 (GRCm39)	V1205A	probably damaging	Het
Ro60	T	C	1: 143,635,772 (GRCm39)	D458G	probably benign	Het
Sgo2b	T	C	8: 64,380,181 (GRCm39)	R884G	probably benign	Het
Slc10a5	G	T	3: 10,400,278 (GRCm39)	D127E	probably benign	Het
Slc25a35	T	G	11: 68,859,791 (GRCm39)	S101R	possibly damaging	Het
Slc6a13	T	C	6: 121,302,000 (GRCm39)	L194P	possibly damaging	Het
Snw1	T	G	12: 87,499,473 (GRCm39)		probably benign	Het
Sort1	T	A	3: 108,259,002 (GRCm39)	F678Y	probably benign	Het
Srsf12	C	T	4: 33,225,764 (GRCm39)		probably benign	Het
Ssxa1	T	A	X: 20,985,581 (GRCm39)		probably benign	Het
Stard13	T	C	5: 150,968,633 (GRCm39)	Y879C	probably damaging	Het
Syt2	ACTCTCTCT	ACTCTCTCTCT	1: 134,674,479 (GRCm39)		probably benign	Het
Tacr3	T	C	3: 134,637,941 (GRCm39)	V366A	probably benign	Het
Tasor	T	A	14: 27,168,345 (GRCm39)	Y296N	probably damaging	Het
Tasor	A	G	14: 27,198,571 (GRCm39)	N1301S	possibly damaging	Het
Tecpr1	T	A	5: 144,145,463 (GRCm39)	T595S	probably benign	Het
Tjp3	T	A	10: 81,113,888 (GRCm39)	M457L	possibly damaging	Het
Tkfc	A	G	19: 10,573,405 (GRCm39)	I279T	probably damaging	Het
Tmem98	A	G	11: 80,708,348 (GRCm39)	E106G	probably damaging	Het
Tnnt2	TG	TGG	1: 135,774,499 (GRCm39)		probably benign	Het
Trim41	C	A	11: 48,698,419 (GRCm39)	G516W	probably damaging	Het
Ttn	T	C	2: 76,572,861 (GRCm39)	T24265A	possibly damaging	Het
Usp37	A	G	1: 74,500,815 (GRCm39)	V582A	probably damaging	Het
Vps13b	T	A	15: 35,671,546 (GRCm39)	I1683N	probably benign	Het
Vps13d	C	T	4: 144,882,671 (GRCm39)	R968H	probably benign	Het
Vps35l	T	C	7: 118,393,798 (GRCm39)	Y516H	probably damaging	Het
Vwf	C	T	6: 125,634,020 (GRCm39)	T166I	probably damaging	Het
Zfp280d	T	C	9: 72,215,287 (GRCm39)	F133L	probably damaging	Het
Zfp459	A	T	13: 67,556,395 (GRCm39)	H229Q	probably benign	Het
Zfyve26	T	A	12: 79,315,208 (GRCm39)	I1423F	possibly damaging	Het
Zmynd19	T	A	2: 24,842,648 (GRCm39)	Y15*	probably null	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
R2045:Senp1	UTSW	15	97,957,825 (GRCm39)	missense	possibly damaging	0.57
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'- ATGGTTTAGGAGCACGCAGC -3'
(R):5'- AAATCCATTTCCTTTGGGCTG -3'

Sequencing Primer
(F):5'- TGACAGGCCGTCTCCTTG -3'
(R):5'- ATGGAGACTTCCCAGGATTCC -3'

Posted On

2014-09-17