Mutagenetix > Incidental Mutation

Incidental Mutation 'R4766:Senp1'

366178

Institutional Source

Beutler Lab

Gene Symbol

Senp1

Ensembl Gene

ENSMUSG00000033075

Gene Name

SUMO1/sentrin specific peptidase 1

Synonyms

2310046A20Rik, D15Ertd528e, E330036L07Rik

MMRRC Submission

042407-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4766 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98038744-98093744 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98045896 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 602 (D602G)

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: D576G

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000046598
Gene: ENSMUSG00000033075
AA Change: D576G

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: D602G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138056
Gene: ENSMUSG00000033075
AA Change: D602G

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

0.2018

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

97% (87/90)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	C	T	5: 113,097,636	V1584I	probably benign	Het
A430105I19Rik	C	A	2: 118,759,577	R262L	probably damaging	Het
Adamts12	A	G	15: 11,285,901	D732G	probably benign	Het
Agpat4	A	G	17: 12,151,750		probably benign	Het
AI182371	T	C	2: 35,095,817	D140G	possibly damaging	Het
Apol11b	T	A	15: 77,634,933	T316S	probably benign	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Bard1	T	C	1: 71,075,174	E216G	probably benign	Het
Bdp1	C	A	13: 100,049,868	R1692L	probably damaging	Het
Capn10	T	C	1: 92,943,419	I101T	probably damaging	Het
Ccdc175	C	T	12: 72,112,205	M653I	probably benign	Het
Ccr8	G	A	9: 120,094,464	C215Y	probably damaging	Het
Cct3	T	A	3: 88,311,785	L241*	probably null	Het
Cd2ap	A	T	17: 42,852,459	I25N	probably damaging	Het
Cdh19	T	C	1: 110,893,260	K583E	probably benign	Het
Cela3a	A	G	4: 137,402,675	S212P	unknown	Het
Cfap44	T	A	16: 44,415,883		probably null	Het
Clca3a1	A	T	3: 144,749,712	L440Q	probably damaging	Het
Crybg2	A	G	4: 134,089,352	Y1676C	probably damaging	Het
Dscam	T	C	16: 96,643,988	D1501G	probably benign	Het
Eml6	C	A	11: 29,805,757	L832F	probably benign	Het
Enpp3	A	G	10: 24,773,927	L867P	probably damaging	Het
Erbb3	A	G	10: 128,586,238	Y46H	possibly damaging	Het
Fads3	T	C	19: 10,056,020	I342T	possibly damaging	Het
Flvcr1	A	T	1: 191,021,106	S290T	probably benign	Het
Fut9	A	G	4: 25,799,191		probably benign	Het
Gad2	C	T	2: 22,622,667	A2V	probably damaging	Het
Gkn3	C	T	6: 87,383,525	A163T	probably damaging	Het
Gm10715	T	G	9: 3,038,073		probably benign	Het
Herc1	T	G	9: 66,441,929	D2023E	probably benign	Het
Hsd3b3	A	G	3: 98,742,485	L174P	probably damaging	Het
Impg2	TACCACCACCACCACCACCACCACCA	TACCACCACCACCACCACCACCA	16: 56,257,939		probably benign	Het
Iqcf3	A	G	9: 106,560,949		probably null	Het
Kcna4	G	A	2: 107,296,543	V541M	probably damaging	Het
Kcnj11	T	C	7: 46,099,816	T28A	probably benign	Het
Kcnmb2	T	A	3: 32,181,867	N88K	probably damaging	Het
Kdm2a	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCTTCCTCCTCCTC	19: 4,324,507		probably benign	Het
Krt2	T	C	15: 101,813,960	E430G	probably damaging	Het
Lins1	C	T	7: 66,710,641	L384F	possibly damaging	Het
Man1c1	G	C	4: 134,703,438	P11R	probably damaging	Het
Mfge8	T	C	7: 79,134,525	N389D	probably damaging	Het
Mug1	C	T	6: 121,884,254	T1278I	probably benign	Het
Myh9	T	C	15: 77,807,877	M161V	probably damaging	Het
Myl7	T	A	11: 5,898,171	Y61F	probably benign	Het
Nlrp4d	A	T	7: 10,362,779		unknown	Het
Nol3	A	G	8: 105,281,933		probably null	Het
Nup85	T	A	11: 115,577,925		probably null	Het
Obscn	T	A	11: 59,012,742	T7619S	probably damaging	Het
Olfr1298	T	C	2: 111,645,881	M39V	probably benign	Het
Olfr331	T	A	11: 58,501,668	N296I	probably damaging	Het
Olfr628	C	T	7: 103,732,250	T108I	possibly damaging	Het
Olfr844	G	A	9: 19,318,845	V104I	probably benign	Het
Pax5	T	A	4: 44,679,494	I184F	probably damaging	Het
Pcdha7	T	A	18: 36,974,507	V195D	probably damaging	Het
Phf3	A	T	1: 30,813,939		probably benign	Het
Pla2g15	G	T	8: 106,163,071	G325V	probably damaging	Het
Ppp1r21	T	C	17: 88,572,615	F487L	probably benign	Het
Ppp1r9a	A	G	6: 5,157,016	I965V	probably benign	Het
Ptpru	A	G	4: 131,820,964	V74A	probably damaging	Het
Rif1	T	A	2: 52,098,934	Y780N	probably damaging	Het
Rps25	T	A	9: 44,408,749	Y23N	possibly damaging	Het
Ryr1	T	C	7: 29,085,833	D1811G	probably damaging	Het
Scamp5	T	G	9: 57,452,036		probably null	Het
Sh2b2	T	G	5: 136,231,957	D135A	probably damaging	Het
Slc26a8	G	A	17: 28,638,661	T836M	probably benign	Het
Slfn4	T	G	11: 83,186,821	I145S	possibly damaging	Het
Spag6l	G	A	16: 16,777,390	T377I	probably benign	Het
Spdye4b	T	C	5: 143,196,334	F129S	probably damaging	Het
Sspo	G	A	6: 48,470,580	G2360E	probably benign	Het
Taar2	A	T	10: 23,940,771	I70F	probably damaging	Het
Taar7e	A	G	10: 24,038,566	N318S	probably damaging	Het
Tor1a	C	A	2: 30,967,730	R42L	probably benign	Het
Trdn	A	T	10: 33,474,506	Q690H	probably benign	Het
Trim56	C	A	5: 137,112,725	V646L	probably benign	Het
Tspan15	T	A	10: 62,191,544	K165I	probably benign	Het
Usp24	A	G	4: 106,416,048	Y2210C	probably damaging	Het
Usp45	A	G	4: 21,797,307	T76A	probably damaging	Het
Vps13c	T	A	9: 67,878,224		probably null	Het
Zfp512b	T	C	2: 181,585,095		probably benign	Het
Zyx	C	A	6: 42,356,159		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
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
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
R8946:Senp1	UTSW	15	98042901	missense	probably damaging	0.96
R9373:Senp1	UTSW	15	98066554	missense	probably benign	0.00
R9650:Senp1	UTSW	15	98048367	missense	probably damaging	1.00
R9756:Senp1	UTSW	15	98059925	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- TCATGAGCTTCCCCACAAATAATTC -3'
(R):5'- AATCTCAGAAGCAGCGGTCC -3'

Sequencing Primer
(F):5'- CCACAAATAATTCATCTCCCTTGAG -3'
(R):5'- AGAAGCAGCGGTCCTGTCC -3'

Posted On

2015-12-21