Mutagenetix > Incidental Mutation

Incidental Mutation 'R0125:Senp1'

21326

Institutional Source

Beutler Lab

Gene Symbol

Senp1

Ensembl Gene

ENSMUSG00000033075

Gene Name

SUMO1/sentrin specific peptidase 1

Synonyms

D15Ertd528e, E330036L07Rik, 2310046A20Rik

MMRRC Submission

038410-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0125 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

97936625-97991625 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97946112 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 544 (D544E)

Ref Sequence

ENSEMBL: ENSMUSP00000138056 (fasta)

Gene Model

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

AlphaFold

P59110

Predicted Effect

probably damaging
Transcript: ENSMUST00000044189
AA Change: D518E

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000046598
Gene: ENSMUSG00000033075
AA Change: D518E

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

noncoding transcript
Transcript: ENSMUST00000180461

SMART Domains

Protein: ENSMUSP00000137769
Gene: ENSMUSG00000033075

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C48	1	169	2.2e-42	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000180657
AA Change: D544E

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138056
Gene: ENSMUSG00000033075
AA Change: D544E

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: ENSMUST00000181855

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 87.1%

Validation Efficiency

98% (96/98)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	T	C	14: 70,394,096 (GRCm39)		probably benign	Het
Adam23	T	C	1: 63,573,515 (GRCm39)	L261P	probably benign	Het
Adgra3	G	A	5: 50,159,194 (GRCm39)		probably benign	Het
Agtr1b	A	G	3: 20,369,704 (GRCm39)	F301L	probably benign	Het
Ahnak2	G	A	12: 112,748,776 (GRCm39)	T357I	probably benign	Het
Aldh1a7	T	C	19: 20,704,430 (GRCm39)		probably benign	Het
Apoh	A	T	11: 108,302,899 (GRCm39)	N288I	probably damaging	Het
Arfgap3	A	G	15: 83,227,340 (GRCm39)	V24A	probably benign	Het
Atp6v0a1	A	G	11: 100,929,677 (GRCm39)		probably null	Het
Axl	A	T	7: 25,486,368 (GRCm39)	M112K	probably benign	Het
Bnc2	A	C	4: 84,211,169 (GRCm39)	I425S	probably damaging	Het
Ccn4	T	C	15: 66,789,194 (GRCm39)	S227P	possibly damaging	Het
Cdc42bpa	C	T	1: 179,788,763 (GRCm39)	T30M	probably damaging	Het
Cebpz	C	A	17: 79,227,317 (GRCm39)	R1051M	possibly damaging	Het
Ces1d	A	C	8: 93,901,810 (GRCm39)		probably benign	Het
Chd1l	T	C	3: 97,494,465 (GRCm39)	N405S	probably benign	Het
Chodl	G	T	16: 78,738,311 (GRCm39)	G93V	probably damaging	Het
Cpeb2	C	T	5: 43,395,743 (GRCm39)		probably benign	Het
Crebbp	A	G	16: 3,935,105 (GRCm39)		probably benign	Het
Crybb3	T	C	5: 113,227,675 (GRCm39)	T49A	possibly damaging	Het
Ctps1	A	G	4: 120,418,722 (GRCm39)		probably benign	Het
Cyp26b1	A	G	6: 84,551,497 (GRCm39)	Y240H	probably damaging	Het
Cyp2d11	A	C	15: 82,273,422 (GRCm39)	V483G	probably benign	Het
Dennd2b	T	C	7: 109,155,545 (GRCm39)	K402E	probably benign	Het
Dnah14	A	T	1: 181,579,628 (GRCm39)	N3054Y	probably damaging	Het
Dspp	A	C	5: 104,325,905 (GRCm39)	D756A	unknown	Het
Dst	T	C	1: 34,309,984 (GRCm39)	S1553P	probably damaging	Het
Elp4	A	G	2: 105,622,559 (GRCm39)		probably null	Het
Eml6	G	T	11: 29,832,088 (GRCm39)	T194K	probably benign	Het
Evi5	A	G	5: 107,943,638 (GRCm39)	I569T	probably benign	Het
Fancm	C	T	12: 65,168,730 (GRCm39)	P1698S	possibly damaging	Het
Fhdc1	T	C	3: 84,352,852 (GRCm39)	D791G	probably benign	Het
Frem1	A	G	4: 82,930,188 (GRCm39)	Y253H	probably damaging	Het
Gpn3	A	G	5: 122,519,481 (GRCm39)	Y196C	probably benign	Het
Hcls1	A	G	16: 36,782,525 (GRCm39)	D398G	probably benign	Het
Hydin	T	C	8: 111,189,163 (GRCm39)	V1189A	probably benign	Het
Itgb3	G	A	11: 104,534,789 (GRCm39)	D549N	probably damaging	Het
Itpr2	A	G	6: 146,141,951 (GRCm39)	F1697S	probably benign	Het
Klk1b11	A	G	7: 43,648,475 (GRCm39)	T161A	probably benign	Het
Kntc1	G	A	5: 123,903,120 (GRCm39)		probably benign	Het
Map3k19	A	T	1: 127,750,837 (GRCm39)	F838Y	probably benign	Het
Map6	T	A	7: 98,985,187 (GRCm39)		probably null	Het
Mcrs1	A	G	15: 99,142,608 (GRCm39)		probably benign	Het
Mdn1	A	T	4: 32,729,956 (GRCm39)	Y2766F	probably damaging	Het
Med23	C	T	10: 24,776,686 (GRCm39)	H739Y	probably damaging	Het
Mmp17	T	A	5: 129,671,646 (GRCm39)	D65E	possibly damaging	Het
Mmp9	T	A	2: 164,793,177 (GRCm39)	L442Q	probably damaging	Het
Myo19	T	C	11: 84,779,001 (GRCm39)		probably benign	Het
Nedd1	A	C	10: 92,527,791 (GRCm39)	S468A	possibly damaging	Het
Niban2	T	A	2: 32,813,833 (GRCm39)	V682D	probably benign	Het
Nlrp4d	A	C	7: 10,116,316 (GRCm39)	V152G	probably damaging	Het
Nxf1	T	A	19: 8,740,170 (GRCm39)	D112E	probably benign	Het
Oas1h	A	T	5: 121,000,626 (GRCm39)	K79*	probably null	Het
Omg	T	A	11: 79,393,679 (GRCm39)	I60F	possibly damaging	Het
Or5p69	A	G	7: 107,967,576 (GRCm39)	Y293C	probably damaging	Het
Or8b101	A	G	9: 38,020,815 (GRCm39)	T278A	probably benign	Het
Or8b1b	T	A	9: 38,375,757 (GRCm39)	L140*	probably null	Het
Pck1	G	A	2: 172,997,874 (GRCm39)	W314*	probably null	Het
Pla2g15	T	C	8: 106,889,756 (GRCm39)	Y343H	probably benign	Het
Plcb3	T	C	19: 6,936,276 (GRCm39)	E749G	probably damaging	Het
Plgrkt	A	G	19: 29,328,442 (GRCm39)		probably null	Het
Pprc1	A	G	19: 46,057,951 (GRCm39)		probably benign	Het
Prkdc	A	T	16: 15,516,871 (GRCm39)	I1082F	probably damaging	Het
Rapgef6	T	A	11: 54,516,701 (GRCm39)	Y172*	probably null	Het
Ros1	G	T	10: 52,001,885 (GRCm39)	A1079D	probably benign	Het
Sap30	T	C	8: 57,938,545 (GRCm39)	E147G	probably null	Het
Sell	T	C	1: 163,899,674 (GRCm39)		probably benign	Het
Shpk	G	A	11: 73,105,048 (GRCm39)		probably benign	Het
Slc35b1	A	T	11: 95,277,353 (GRCm39)	T74S	probably benign	Het
Slc6a3	T	A	13: 73,718,098 (GRCm39)		probably benign	Het
Slf1	T	C	13: 77,191,864 (GRCm39)	N990S	probably benign	Het
Smgc	A	G	15: 91,738,746 (GRCm39)		probably benign	Het
Snx19	T	A	9: 30,351,515 (GRCm39)	V861D	probably damaging	Het
Sprr2e	C	T	3: 92,260,285 (GRCm39)	P39S	unknown	Het
Sstr2	T	A	11: 113,515,303 (GRCm39)	M74K	probably damaging	Het
Svep1	T	C	4: 58,099,937 (GRCm39)		probably benign	Het
Tas2r143	A	G	6: 42,377,889 (GRCm39)	I240V	probably benign	Het
Tbrg1	T	C	9: 37,563,937 (GRCm39)	I233V	probably benign	Het
Tecpr1	G	T	5: 144,134,717 (GRCm39)	D1055E	probably damaging	Het
Thap2	A	T	10: 115,212,277 (GRCm39)		probably null	Het
Tinagl1	A	G	4: 130,060,101 (GRCm39)	Y388H	probably damaging	Het
Ttn	T	A	2: 76,585,896 (GRCm39)	Y21945F	probably damaging	Het
Ugt2b1	A	T	5: 87,073,961 (GRCm39)	W133R	probably benign	Het
Usp24	C	T	4: 106,254,496 (GRCm39)	P1491L	possibly damaging	Het
Utp15	A	G	13: 98,387,390 (GRCm39)	S395P	possibly damaging	Het
Vav1	T	A	17: 57,606,847 (GRCm39)	L254Q	probably damaging	Het
Vmn2r104	T	C	17: 20,250,069 (GRCm39)	Y734C	probably damaging	Het
Vps8	T	A	16: 21,288,904 (GRCm39)	V421E	probably benign	Het
Xkr7	G	T	2: 152,874,346 (GRCm39)	A138S	probably benign	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
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
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'- ACCACAAACATGCTTGTTCCTTGC -3'
(R):5'- TTCGTTGAGTTGGCTGCCATCC -3'

Sequencing Primer
(F):5'- GGATGACCTGTAACTTCCGAAC -3'
(R):5'- TGGCTGCCATCCATAGCATAATAC -3'

Posted On

2013-04-11