Mutagenetix > Incidental Mutation

Incidental Mutation 'R1760:Senp6'

192707

Institutional Source

Beutler Lab

Gene Symbol

Senp6

Ensembl Gene

ENSMUSG00000034252

Gene Name

SUMO/sentrin specific peptidase 6

Synonyms

E130319N12Rik, 2810017C20Rik

MMRRC Submission

039792-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1760 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80066903-80144953 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80118629 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 314 (V314E)

Ref Sequence

ENSEMBL: ENSMUSP00000128918 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037484] [ENSMUST00000164859] [ENSMUST00000165607] [ENSMUST00000175999] [ENSMUST00000176360] [ENSMUST00000176640]

AlphaFold

Q6P7W0

Predicted Effect

probably benign
Transcript: ENSMUST00000037484
AA Change: V480E

PolyPhen 2 Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000047220
Gene: ENSMUSG00000034252
AA Change: V480E

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: V314E

PolyPhen 2 Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000128918
Gene: ENSMUSG00000034252
AA Change: V314E

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

noncoding transcript
Transcript: ENSMUST00000165458

Predicted Effect

probably benign
Transcript: ENSMUST00000165607
AA Change: V487E

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000126777
Gene: ENSMUSG00000034252
AA Change: V487E

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: ENSMUST00000175910

Predicted Effect

probably benign
Transcript: ENSMUST00000175999

Predicted Effect

unknown
Transcript: ENSMUST00000176360
AA Change: V231E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000176640

Predicted Effect

unknown
Transcript: ENSMUST00000176648
AA Change: V159E

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.6%

Validation Efficiency

97% (95/98)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110017D15Rik	T	A	4: 41,507,330		probably null	Het
2310035C23Rik	T	G	1: 105,719,444		probably benign	Het
Abca2	T	C	2: 25,443,043	S1585P	probably benign	Het
Abhd16b	T	C	2: 181,493,404	F33S	probably damaging	Het
Adgra2	G	A	8: 27,119,767	R856Q	probably damaging	Het
Aff3	A	T	1: 38,329,864		probably benign	Het
Anxa2	A	T	9: 69,489,767	Y251F	probably benign	Het
Arid1b	A	G	17: 5,341,813	T1873A	probably damaging	Het
Baz1b	C	A	5: 135,242,524	D1320E	probably benign	Het
Bbs1	A	T	19: 4,894,322	S426R	probably benign	Het
Bid	A	G	6: 120,900,248	V44A	possibly damaging	Het
Ccdc60	T	A	5: 116,172,473	M177L	probably damaging	Het
Cdh23	G	A	10: 60,326,076	T1997M	probably damaging	Het
Cdh5	T	A	8: 104,128,169	M243K	probably benign	Het
Clpb	T	A	7: 101,786,698	V578E	possibly damaging	Het
Cngb1	C	A	8: 95,299,700	C151F	probably benign	Het
Cntnap5b	T	C	1: 99,772,810	S16P	probably benign	Het
Cr1l	T	A	1: 195,114,815	M305L	probably benign	Het
Ctnnal1	A	T	4: 56,838,988	M235K	probably damaging	Het
Ddx55	A	T	5: 124,568,113	R534W	probably damaging	Het
Dip2b	T	A	15: 100,212,029	L1465Q	probably damaging	Het
Dnah9	G	T	11: 65,981,222	D2727E	probably benign	Het
Dph3b-ps	A	C	13: 106,546,989		noncoding transcript	Het
Dst	T	A	1: 34,228,603	L2702Q	probably damaging	Het
Efnb2	T	C	8: 8,623,184	T158A	possibly damaging	Het
Exosc10	A	T	4: 148,578,469	K712*	probably null	Het
Fgr	T	C	4: 132,998,342	V354A	possibly damaging	Het
Fsip2	G	A	2: 82,984,896	V3658M	probably benign	Het
Fsip2	A	T	2: 82,987,711	H4596L	possibly damaging	Het
Fsip2	A	G	2: 82,999,841	D6893G	possibly damaging	Het
Gm1527	G	A	3: 28,895,550		probably benign	Het
Gm5150	G	T	3: 16,006,304	Q7K	probably benign	Het
Gpr155	C	T	2: 73,381,935	V115M	probably damaging	Het
Gpr75	T	C	11: 30,891,527	L144P	probably damaging	Het
Gsn	T	A	2: 35,284,823	Y127N	probably damaging	Het
Hk1	A	G	10: 62,281,899	L615S	probably damaging	Het
Igsf9b	A	G	9: 27,317,827	T194A	possibly damaging	Het
Il17rd	C	T	14: 27,091,806	Q46*	probably null	Het
Jak1	T	A	4: 101,162,929	M678L	probably benign	Het
Kif6	T	C	17: 49,615,283	V16A	probably benign	Het
Kpna3	T	C	14: 61,370,541	E405G	probably benign	Het
Lmtk2	C	A	5: 144,174,175	T571K	probably damaging	Het
Mucl2	T	C	15: 103,897,572	T40A	possibly damaging	Het
Myh11	G	A	16: 14,233,695		probably benign	Het
Myh7	C	T	14: 54,972,713	R1845Q	probably damaging	Het
Myo1f	T	A	17: 33,586,198	L480Q	probably benign	Het
Nek9	T	G	12: 85,305,590	D833A	possibly damaging	Het
Nek9	T	C	12: 85,310,410	E660G	probably benign	Het
Olfr186	T	C	16: 59,026,987	R307G	probably benign	Het
Olfr315	A	G	11: 58,778,369	M81V	possibly damaging	Het
Olfr419	C	T	1: 174,250,360	C189Y	probably damaging	Het
Olfr446	A	G	6: 42,927,497	I89V	possibly damaging	Het
Olfr523	G	A	7: 140,176,275	V52M	probably damaging	Het
Olfr808	T	A	10: 129,767,548	D17E	probably benign	Het
Olfr831-ps1	T	A	9: 18,932,495		probably benign	Het
Otud3	G	T	4: 138,895,781	T383K	possibly damaging	Het
Pkp4	T	C	2: 59,311,841	L496P	probably damaging	Het
Pla2g4e	C	A	2: 120,170,046	A737S	possibly damaging	Het
Pla2g4f	T	C	2: 120,314,066		probably benign	Het
Plxnd1	A	T	6: 115,967,779	V1018E	possibly damaging	Het
Ppp1r21	T	G	17: 88,562,225	V402G	possibly damaging	Het
Prkcq	T	G	2: 11,300,070	M690R	probably damaging	Het
Ptpra	T	C	2: 130,549,827	I719T	probably damaging	Het
Rab3ip	C	T	10: 116,937,510	D133N	probably damaging	Het
Rsbn1	T	A	3: 103,960,031	Y563N	probably damaging	Het
Rtf1	A	C	2: 119,728,408	D530A	probably benign	Het
Rybp	G	T	6: 100,232,263	S199R	probably benign	Het
Sema5a	T	G	15: 32,641,106	C689G	probably damaging	Het
Setd1a	T	A	7: 127,785,890	C47S	possibly damaging	Het
Slamf1	C	A	1: 171,777,166	T168K	probably benign	Het
Slc12a5	T	C	2: 164,996,128	S937P	probably damaging	Het
Slc38a11	C	T	2: 65,355,319		probably null	Het
Slc6a2	C	T	8: 92,961,218		probably benign	Het
Snw1	A	T	12: 87,464,689	F64Y	probably benign	Het
Spata9	A	C	13: 75,998,524	I172L	probably benign	Het
Sphkap	T	C	1: 83,277,544	H828R	probably benign	Het
Tmem94	A	T	11: 115,796,754	K1146N	probably damaging	Het
Trdn	A	G	10: 33,233,887	T294A	possibly damaging	Het
Tsc22d1	T	C	14: 76,416,948	V289A	possibly damaging	Het
Tti1	C	A	2: 157,993,035	V1002L	possibly damaging	Het
Tubgcp4	T	A	2: 121,189,471		probably null	Het
Ush2a	G	A	1: 188,910,983	E4181K	possibly damaging	Het
Uvrag	A	G	7: 98,888,348	S547P	probably benign	Het
Vav3	T	C	3: 109,341,127	V30A	possibly damaging	Het
Vegfa	A	G	17: 46,025,469	Y242H	probably damaging	Het
Vmn2r75	G	T	7: 86,148,811	T598K	probably damaging	Het
Vps13b	C	T	15: 35,884,619	S3146L	possibly damaging	Het
Vrk3	A	G	7: 44,768,471	Y310C	probably damaging	Het
Zfhx4	A	G	3: 5,382,616	K1100R	probably benign	Het
Zfp748	T	A	13: 67,545,421		probably null	Het
Zfp760	A	T	17: 21,722,330	D162V	probably damaging	Het
Znfx1	T	A	2: 167,039,866	M1068L	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
R0276:Senp6	UTSW	9	80136747	missense	probably benign
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
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'- AGCTTGGTAATTCCATCAGCACACC -3'
(R):5'- GCTTGCTTGTAATCATGCCACCAC -3'

Sequencing Primer
(F):5'- TCAGCACACCTTTAAAACGTCG -3'
(R):5'- GGTAGTATACACCAGCATATCTGGC -3'

Posted On

2014-05-23