Mutagenetix > Incidental Mutations

Incidental Mutation 'R0125:Senp1'

21326

Institutional Source

Beutler Lab

Gene Symbol

Senp1

Ensembl Gene

ENSMUSG00000033075

Gene Name

SUMO1/sentrin specific peptidase 1

Synonyms

2310046A20Rik, D15Ertd528e, E330036L07Rik

MMRRC Submission

038410-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0125 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

98038744-98093744 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 98048231 bp

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]

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: 70,156,647		probably benign	Het
Adam23	T	C	1: 63,534,356	L261P	probably benign	Het
Adgra3	G	A	5: 50,001,852		probably benign	Het
Agtr1b	A	G	3: 20,315,540	F301L	probably benign	Het
Ahnak2	G	A	12: 112,785,156	T357I	probably benign	Het
Aldh1a7	T	C	19: 20,727,066		probably benign	Het
Apoh	A	T	11: 108,412,073	N288I	probably damaging	Het
Arfgap3	A	G	15: 83,343,139	V24A	probably benign	Het
Atp6v0a1	A	G	11: 101,038,851		probably null	Het
Axl	A	T	7: 25,786,943	M112K	probably benign	Het
Bnc2	A	C	4: 84,292,932	I425S	probably damaging	Het
Cdc42bpa	C	T	1: 179,961,198	T30M	probably damaging	Het
Cebpz	C	A	17: 78,919,888	R1051M	possibly damaging	Het
Ces1d	A	C	8: 93,175,182		probably benign	Het
Chd1l	T	C	3: 97,587,149	N405S	probably benign	Het
Chodl	G	T	16: 78,941,423	G93V	probably damaging	Het
Cpeb2	C	T	5: 43,238,400		probably benign	Het
Crebbp	A	G	16: 4,117,241		probably benign	Het
Crybb3	T	C	5: 113,079,809	T49A	possibly damaging	Het
Ctps	A	G	4: 120,561,525		probably benign	Het
Cyp26b1	A	G	6: 84,574,515	Y240H	probably damaging	Het
Cyp2d11	A	C	15: 82,389,221	V483G	probably benign	Het
Dnah14	A	T	1: 181,752,063	N3054Y	probably damaging	Het
Dspp	A	C	5: 104,178,039	D756A	unknown	Het
Dst	T	C	1: 34,270,903	S1553P	probably damaging	Het
Elp4	A	G	2: 105,792,214		probably null	Het
Eml6	G	T	11: 29,882,088	T194K	probably benign	Het
Evi5	A	G	5: 107,795,772	I569T	probably benign	Het
Fam129b	T	A	2: 32,923,821	V682D	probably benign	Het
Fancm	C	T	12: 65,121,956	P1698S	possibly damaging	Het
Fhdc1	T	C	3: 84,445,545	D791G	probably benign	Het
Frem1	A	G	4: 83,011,951	Y253H	probably damaging	Het
Gpn3	A	G	5: 122,381,418	Y196C	probably benign	Het
Hcls1	A	G	16: 36,962,163	D398G	probably benign	Het
Hydin	T	C	8: 110,462,531	V1189A	probably benign	Het
Itgb3	G	A	11: 104,643,963	D549N	probably damaging	Het
Itpr2	A	G	6: 146,240,453	F1697S	probably benign	Het
Klk1b11	A	G	7: 43,999,051	T161A	probably benign	Het
Kntc1	G	A	5: 123,765,057		probably benign	Het
Map3k19	A	T	1: 127,823,100	F838Y	probably benign	Het
Map6	T	A	7: 99,335,980		probably null	Het
Mcrs1	A	G	15: 99,244,727		probably benign	Het
Mdn1	A	T	4: 32,729,956	Y2766F	probably damaging	Het
Med23	C	T	10: 24,900,788	H739Y	probably damaging	Het
Mmp17	T	A	5: 129,594,582	D65E	possibly damaging	Het
Mmp9	T	A	2: 164,951,257	L442Q	probably damaging	Het
Myo19	T	C	11: 84,888,175		probably benign	Het
Nedd1	A	C	10: 92,691,929	S468A	possibly damaging	Het
Nlrp4d	A	C	7: 10,382,389	V152G	probably damaging	Het
Nxf1	T	A	19: 8,762,806	D112E	probably benign	Het
Oas1h	A	T	5: 120,862,563	K79*	probably null	Het
Olfr494	A	G	7: 108,368,369	Y293C	probably damaging	Het
Olfr888	A	G	9: 38,109,519	T278A	probably benign	Het
Olfr904	T	A	9: 38,464,461	L140*	probably null	Het
Omg	T	A	11: 79,502,853	I60F	possibly damaging	Het
Pck1	G	A	2: 173,156,081	W314*	probably null	Het
Pla2g15	T	C	8: 106,163,124	Y343H	probably benign	Het
Plcb3	T	C	19: 6,958,908	E749G	probably damaging	Het
Plgrkt	A	G	19: 29,351,042		probably null	Het
Pprc1	A	G	19: 46,069,512		probably benign	Het
Prkdc	A	T	16: 15,699,007	I1082F	probably damaging	Het
Rapgef6	T	A	11: 54,625,875	Y172*	probably null	Het
Ros1	G	T	10: 52,125,789	A1079D	probably benign	Het
Sap30	T	C	8: 57,485,511	E147G	probably null	Het
Sell	T	C	1: 164,072,105		probably benign	Het
Shpk	G	A	11: 73,214,222		probably benign	Het
Slc35b1	A	T	11: 95,386,527	T74S	probably benign	Het
Slc6a3	T	A	13: 73,569,979		probably benign	Het
Slf1	T	C	13: 77,043,745	N990S	probably benign	Het
Smgc	A	G	15: 91,854,543		probably benign	Het
Snx19	T	A	9: 30,440,219	V861D	probably damaging	Het
Sprr2e	C	T	3: 92,352,978	P39S	unknown	Het
Sstr2	T	A	11: 113,624,477	M74K	probably damaging	Het
St5	T	C	7: 109,556,338	K402E	probably benign	Het
Svep1	T	C	4: 58,099,937		probably benign	Het
Tas2r143	A	G	6: 42,400,955	I240V	probably benign	Het
Tbrg1	T	C	9: 37,652,641	I233V	probably benign	Het
Tecpr1	G	T	5: 144,197,899	D1055E	probably damaging	Het
Thap2	A	T	10: 115,376,372		probably null	Het
Tinagl1	A	G	4: 130,166,308	Y388H	probably damaging	Het
Ttn	T	A	2: 76,755,552	Y21945F	probably damaging	Het
Ugt2b1	A	T	5: 86,926,102	W133R	probably benign	Het
Usp24	C	T	4: 106,397,299	P1491L	possibly damaging	Het
Utp15	A	G	13: 98,250,882	S395P	possibly damaging	Het
Vav1	T	A	17: 57,299,847	L254Q	probably damaging	Het
Vmn2r104	T	C	17: 20,029,807	Y734C	probably damaging	Het
Vps8	T	A	16: 21,470,154	V421E	probably benign	Het
Wisp1	T	C	15: 66,917,345	S227P	possibly damaging	Het
Xkr7	G	T	2: 153,032,426	A138S	probably benign	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
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
R8946:Senp1	UTSW	15	98042901	missense	probably damaging	0.96

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