Mutagenetix > Incidental Mutation

Incidental Mutation 'R0276:Senp6'

35381

Institutional Source

Beutler Lab

Gene Symbol

Senp6

Ensembl Gene

ENSMUSG00000034252

Gene Name

SUMO/sentrin specific peptidase 6

Synonyms

E130319N12Rik, 2810017C20Rik

MMRRC Submission

038498-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0276 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80066903-80144953 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80136747 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 887 (M887V)

Ref Sequence

ENSEMBL: ENSMUSP00000126777 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037484] [ENSMUST00000164859] [ENSMUST00000165607] [ENSMUST00000175999] [ENSMUST00000176527]

AlphaFold

Q6P7W0

Predicted Effect

probably benign
Transcript: ENSMUST00000037484
AA Change: M880V

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

SMART Domains

Protein: ENSMUSP00000047220
Gene: ENSMUSG00000034252
AA Change: M880V

Domain	Start	End	E-Value	Type
low complexity region	2	12	N/A	INTRINSIC
ZnF_C2HC	242	260	7.23e0	SMART
Pfam:Peptidase_C48	700	826	3.5e-23	PFAM
Pfam:Peptidase_C48	965	1096	1.1e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164859
AA Change: M714V

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

SMART Domains

Protein: ENSMUSP00000128918
Gene: ENSMUSG00000034252
AA Change: M714V

Domain	Start	End	E-Value	Type
ZnF_C2HC	76	94	7.23e0	SMART
Pfam:Peptidase_C48	534	660	5.2e-23	PFAM
Pfam:Peptidase_C48	799	930	1.6e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165607
AA Change: M887V

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

SMART Domains

Protein: ENSMUSP00000126777
Gene: ENSMUSG00000034252
AA Change: M887V

Domain	Start	End	E-Value	Type
low complexity region	2	12	N/A	INTRINSIC
ZnF_C2HC	249	267	7.23e0	SMART
Pfam:Peptidase_C48	707	833	3.4e-23	PFAM
Pfam:Peptidase_C48	972	1103	1.1e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175722

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175758

Predicted Effect

probably benign
Transcript: ENSMUST00000175999

Predicted Effect

probably benign
Transcript: ENSMUST00000176527

SMART Domains

Protein: ENSMUSP00000135719
Gene: ENSMUSG00000034252

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C48	114	165	6.5e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176607

SMART Domains

Protein: ENSMUSP00000135231
Gene: ENSMUSG00000034252

Domain	Start	End	E-Value	Type
ZnF_C2HC	76	94	7.23e0	SMART
Pfam:Peptidase_C48	534	660	4.9e-23	PFAM
Pfam:Peptidase_C48	799	911	2.1e-14	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.7%
3x: 97.8%
10x: 96.2%
20x: 93.8%

Validation Efficiency

98% (101/103)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ubiquitin-like molecules (UBLs), such as SUMO1 (UBL1; MIM 601912), are structurally related to ubiquitin (MIM 191339) and can be ligated to target proteins in a similar manner as ubiquitin. However, covalent attachment of UBLs does not result in degradation of the modified proteins. SUMO1 modification is implicated in the targeting of RANGAP1 (MIM 602362) to the nuclear pore complex, as well as in stabilization of I-kappa-B-alpha (NFKBIA; MIM 164008) from degradation by the 26S proteasome. Like ubiquitin, UBLs are synthesized as precursor proteins, with 1 or more amino acids following the C-terminal glycine-glycine residues of the mature UBL protein. Thus, the tail sequences of the UBL precursors need to be removed by UBL-specific proteases, such as SENP6, prior to their conjugation to target proteins (Kim et al., 2000 [PubMed 10799485]). SENPs also display isopeptidase activity for deconjugation of SUMO-conjugated substrates (Lima and Reverter, 2008 [PubMed 18799455]).[supplied by OMIM, Jun 2009]
PHENOTYPE: Mice homozygous for a gene trap insertion exhibit prenatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	A	G	2: 26,975,760	N109S	possibly damaging	Het
Adcy10	T	A	1: 165,572,591	M1523K	possibly damaging	Het
Agtpbp1	C	T	13: 59,462,031	S1095N	possibly damaging	Het
Ang2	C	T	14: 51,195,518	V136I	probably damaging	Het
Arhgap10	A	T	8: 77,413,581	M250K	probably benign	Het
Arhgap33	A	T	7: 30,523,244	W1088R	probably benign	Het
Arhgef15	T	C	11: 68,953,472		probably benign	Het
Aspm	T	C	1: 139,478,471	S1699P	possibly damaging	Het
Atp12a	C	A	14: 56,387,694	D1014E	probably damaging	Het
Atp1a4	T	A	1: 172,257,901	K45M	probably damaging	Het
Atp8a1	A	T	5: 67,786,673		probably benign	Het
Baiap3	A	C	17: 25,243,687	F1099C	probably damaging	Het
Bcas3	T	A	11: 85,470,837		probably null	Het
Bms1	G	A	6: 118,408,134	T371M	possibly damaging	Het
Camta1	C	A	4: 151,075,140	R1614L	probably damaging	Het
Capn3	T	C	2: 120,488,065		probably benign	Het
Ccdc180	A	G	4: 45,923,534	D1105G	probably damaging	Het
Ccdc33	G	T	9: 58,058,392	P364Q	probably damaging	Het
Ccdc36	A	T	9: 108,428,440	M11K	possibly damaging	Het
Clstn3	A	G	6: 124,431,740		probably benign	Het
Cntrl	A	T	2: 35,151,732	Y619F	possibly damaging	Het
Col12a1	A	T	9: 79,630,741	Y2514*	probably null	Het
Cpt1b	T	C	15: 89,419,959	H503R	probably benign	Het
Crb1	T	A	1: 139,323,335	T293S	possibly damaging	Het
D130043K22Rik	C	T	13: 24,858,045	T319I	possibly damaging	Het
Dzip1l	G	A	9: 99,660,998	R502Q	probably benign	Het
Efcab5	A	G	11: 77,129,876	M673T	probably damaging	Het
Efcab5	G	A	11: 77,140,923	R42W	probably damaging	Het
F2rl3	A	G	8: 72,762,798	T218A	probably benign	Het
Fam135a	C	T	1: 24,067,964	R31H	probably damaging	Het
Fam84b	G	T	15: 60,823,674	Y74*	probably null	Het
Fcer2a	A	T	8: 3,689,811	N53K	possibly damaging	Het
Gm14085	T	A	2: 122,521,928	S389T	probably damaging	Het
Golgb1	A	C	16: 36,913,876	K1162Q	probably damaging	Het
Gpr137b	A	T	13: 13,367,575		probably benign	Het
Haspin	A	T	11: 73,136,487	L592Q	probably damaging	Het
Helq	A	G	5: 100,790,147	F478L	probably damaging	Het
Il17rb	T	A	14: 30,004,380	T84S	probably damaging	Het
Itga4	T	C	2: 79,321,493	L880P	probably damaging	Het
Itih5	A	G	2: 10,185,564	I61V	possibly damaging	Het
Ivl	G	A	3: 92,571,514	L415F	unknown	Het
Kif2a	A	G	13: 106,976,650		probably benign	Het
Kmt2d	T	C	15: 98,850,311		probably benign	Het
Lars2	A	G	9: 123,438,121		probably benign	Het
Lilrb4a	T	C	10: 51,491,581	V73A	probably benign	Het
Lrrc8a	A	G	2: 30,256,788	D538G	possibly damaging	Het
Lrrk1	G	A	7: 66,296,263		probably benign	Het
Mc2r	A	T	18: 68,408,132	I30K	possibly damaging	Het
Mybbp1a	C	A	11: 72,450,107		probably null	Het
Napg	C	T	18: 62,986,963	R149C	probably damaging	Het
Ncam2	A	G	16: 81,517,629		probably benign	Het
Nlk	T	C	11: 78,571,475	I509V	probably benign	Het
Nlrp2	A	T	7: 5,328,109	N429K	probably benign	Het
Nlrp9b	A	G	7: 20,028,498	T247A	probably benign	Het
Noxo1	A	T	17: 24,700,162		probably null	Het
Olfr1212	T	A	2: 88,958,755	C96*	probably null	Het
Olfr139	A	G	11: 74,045,118	I52T	probably damaging	Het
Olfr353	A	T	2: 36,890,023	M275K	probably benign	Het
Olfr701	A	T	7: 106,818,697	I205L	probably benign	Het
Olfr734	C	A	14: 50,320,179	A219S	probably benign	Het
Oxr1	T	C	15: 41,820,062	S294P	probably damaging	Het
Pfpl	A	G	19: 12,429,237	Y284C	probably damaging	Het
Pi16	A	T	17: 29,326,943	T232S	probably benign	Het
Plcxd2	A	T	16: 46,009,707	N50K	probably benign	Het
Plekhn1	T	A	4: 156,228,246	N52Y	probably damaging	Het
Prl2c5	T	C	13: 13,183,049		probably benign	Het
Prrc2b	G	A	2: 32,219,654	V1080I	probably damaging	Het
Psg28	A	T	7: 18,430,396	N130K	probably benign	Het
Psme4	C	A	11: 30,811,980	T440K	probably damaging	Het
Ptcd2	T	C	13: 99,321,596	K296E	probably benign	Het
Ptprq	T	C	10: 107,542,735		probably null	Het
Rab5b	A	C	10: 128,686,746		probably null	Het
Rft1	T	A	14: 30,690,583	S534T	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rsu1	A	T	2: 13,170,135		probably benign	Het
Sgcz	T	A	8: 37,952,919	M60L	probably benign	Het
Siglec1	G	A	2: 131,083,941	Q282*	probably null	Het
Sipa1l2	T	C	8: 125,421,940	T1655A	probably damaging	Het
Slc43a3	G	A	2: 84,937,663		probably benign	Het
Snx29	T	C	16: 11,738,373	V756A	probably benign	Het
Spta1	T	A	1: 174,217,894	H1539Q	probably damaging	Het
Stk3	A	C	15: 35,099,469	S104A	probably damaging	Het
Stk38	C	A	17: 28,992,416		probably null	Het
Stx6	T	C	1: 155,174,163		probably benign	Het
Thbs4	G	A	13: 92,775,532	T230I	probably benign	Het
Thrsp	A	G	7: 97,417,502	M1T	probably null	Het
Tmem63b	A	T	17: 45,675,373		probably benign	Het
Top2a	A	G	11: 99,009,907		probably benign	Het
Tpd52l2	T	C	2: 181,502,059		probably null	Het
Trak1	A	G	9: 121,454,338	E390G	probably damaging	Het
Trappc3	T	A	4: 126,273,952	D101E	possibly damaging	Het
Trhr	A	G	15: 44,197,086	M1V	probably null	Het
Triobp	T	A	15: 78,973,676	I1159K	probably benign	Het
Unc45a	A	G	7: 80,326,297		probably benign	Het
Usb1	A	G	8: 95,333,457	D12G	probably damaging	Het
Ushbp1	C	T	8: 71,394,649	C113Y	possibly damaging	Het
Vim	A	G	2: 13,574,859	K143R	probably benign	Het
Vmn2r75	T	C	7: 86,148,307	K766R	probably benign	Het
Wdr92	T	C	11: 17,229,821	I274T	probably benign	Het
Xpo5	T	G	17: 46,241,507	C1089G	probably damaging	Het

Other mutations in Senp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Senp6	APN	9	80116610	missense	probably damaging	1.00
IGL00487:Senp6	APN	9	80113838	missense	probably damaging	1.00
IGL01285:Senp6	APN	9	80136718	missense	probably benign	0.05
IGL01337:Senp6	APN	9	80136510	missense	probably damaging	0.97
IGL01563:Senp6	APN	9	80122008	missense	probably benign
IGL01633:Senp6	APN	9	80092394	missense	probably damaging	1.00
IGL02115:Senp6	APN	9	80121926	missense	probably damaging	1.00
IGL02208:Senp6	APN	9	80113943	missense	probably damaging	1.00
IGL02378:Senp6	APN	9	80126392	missense	probably damaging	1.00
A4554:Senp6	UTSW	9	80148458	unclassified	probably benign
R0031:Senp6	UTSW	9	80126243	missense	probably damaging	1.00
R0121:Senp6	UTSW	9	80116670	missense	probably benign	0.01
R0294:Senp6	UTSW	9	80113725	splice site	probably null
R0308:Senp6	UTSW	9	80132983	critical splice donor site	probably null
R0531:Senp6	UTSW	9	80123884	missense	probably damaging	0.99
R0743:Senp6	UTSW	9	80093589	missense	probably damaging	1.00
R0883:Senp6	UTSW	9	80116559	missense	probably damaging	1.00
R1071:Senp6	UTSW	9	80136729	missense	probably benign	0.35
R1171:Senp6	UTSW	9	80116725	missense	possibly damaging	0.89
R1340:Senp6	UTSW	9	80122023	missense	possibly damaging	0.47
R1571:Senp6	UTSW	9	80093571	missense	probably damaging	1.00
R1760:Senp6	UTSW	9	80118629	missense	probably benign	0.36
R1909:Senp6	UTSW	9	80113774	missense	possibly damaging	0.67
R2008:Senp6	UTSW	9	80126398	missense	probably damaging	1.00
R2067:Senp6	UTSW	9	80089869	missense	probably benign	0.11
R2077:Senp6	UTSW	9	80126155	missense	probably benign	0.14
R2141:Senp6	UTSW	9	80123820	missense	probably damaging	1.00
R2321:Senp6	UTSW	9	80123740	missense	possibly damaging	0.83
R2760:Senp6	UTSW	9	80121978	missense	probably null
R2939:Senp6	UTSW	9	80143842	missense	probably benign	0.00
R2940:Senp6	UTSW	9	80143842	missense	probably benign	0.00
R3081:Senp6	UTSW	9	80143842	missense	probably benign	0.00
R3784:Senp6	UTSW	9	80092286	missense	probably benign	0.16
R3785:Senp6	UTSW	9	80092286	missense	probably benign	0.16
R3800:Senp6	UTSW	9	80087453	missense	possibly damaging	0.89
R3857:Senp6	UTSW	9	80092321	missense	possibly damaging	0.85
R4790:Senp6	UTSW	9	80089858	missense	probably benign	0.20
R5117:Senp6	UTSW	9	80130746	missense	probably damaging	1.00
R5418:Senp6	UTSW	9	80121869	missense	possibly damaging	0.89
R5477:Senp6	UTSW	9	80143843	missense	probably damaging	1.00
R5582:Senp6	UTSW	9	80089876	missense	possibly damaging	0.91
R5717:Senp6	UTSW	9	80092312	missense	probably damaging	0.99
R5800:Senp6	UTSW	9	80126433	missense	probably damaging	1.00
R5802:Senp6	UTSW	9	80118644	unclassified	probably benign
R5899:Senp6	UTSW	9	80142070	splice site	probably benign
R5918:Senp6	UTSW	9	80114116	critical splice donor site	probably null
R5958:Senp6	UTSW	9	80142294	missense	probably damaging	1.00
R6360:Senp6	UTSW	9	80113806	missense	probably benign
R6477:Senp6	UTSW	9	80093625	nonsense	probably null
R6628:Senp6	UTSW	9	80132954	missense	probably damaging	1.00
R6703:Senp6	UTSW	9	80121921	missense	probably damaging	1.00
R7236:Senp6	UTSW	9	80132965	missense	probably damaging	1.00
R7268:Senp6	UTSW	9	80142124	missense	probably damaging	1.00
R7290:Senp6	UTSW	9	80136515	missense	probably benign	0.25
R7319:Senp6	UTSW	9	80126199	missense	probably damaging	1.00
R7422:Senp6	UTSW	9	80113877	missense	probably damaging	1.00
R7474:Senp6	UTSW	9	80142328	missense	probably damaging	1.00
R7480:Senp6	UTSW	9	80121917	missense	probably damaging	1.00
R7491:Senp6	UTSW	9	80123728	nonsense	probably null
R8428:Senp6	UTSW	9	80118512	missense	probably damaging	1.00
R8920:Senp6	UTSW	9	80092279	missense	probably benign	0.06
R9158:Senp6	UTSW	9	80087450	missense	probably benign	0.03
R9300:Senp6	UTSW	9	80142151	missense	probably damaging	1.00
R9347:Senp6	UTSW	9	80139097	missense	possibly damaging	0.89
R9387:Senp6	UTSW	9	80092364	missense	probably damaging	1.00
R9521:Senp6	UTSW	9	80067405	start gained	probably benign
R9652:Senp6	UTSW	9	80113946	missense	probably damaging	1.00
R9794:Senp6	UTSW	9	80092308	missense	probably benign	0.04
Z1176:Senp6	UTSW	9	80142266	missense	probably benign	0.02
Z1177:Senp6	UTSW	9	80103693	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- GTGCTTGTTCACAGAACTCTGCTGC -3'
(R):5'- AGGGCCTGTGTTCTCTTCACTGAG -3'

Sequencing Primer
(F):5'- TGCCAAGCCTGTGATCAAG -3'
(R):5'- ACAAATGTCCTGGCACGT -3'

Posted On

2013-05-09