Mutagenetix > Incidental Mutation

Incidental Mutation 'R0608:Senp7'

54449

Institutional Source

Beutler Lab

Gene Symbol

Senp7

Ensembl Gene

ENSMUSG00000052917

Gene Name

SUMO1/sentrin specific peptidase 7

Synonyms

MMRRC Submission

038797-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.252) question?

Stock #

R0608 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56048338-56190012 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56123873 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 187 (T187A)

Ref Sequence

ENSEMBL: ENSMUSP00000043023 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049128] [ENSMUST00000089360] [ENSMUST00000089362] [ENSMUST00000201011] [ENSMUST00000202000] [ENSMUST00000202799]

AlphaFold

Q8BUH8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049128
AA Change: T187A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000043023
Gene: ENSMUSG00000052917
AA Change: T187A

Domain	Start	End	E-Value	Type
internal_repeat_1	86	118	1.08e-5	PROSPERO
internal_repeat_1	152	184	1.08e-5	PROSPERO
low complexity region	192	208	N/A	INTRINSIC
low complexity region	221	233	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000089360
AA Change: T160A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000086776
Gene: ENSMUSG00000052917
AA Change: T160A

Domain	Start	End	E-Value	Type
low complexity region	165	181	N/A	INTRINSIC
low complexity region	352	376	N/A	INTRINSIC
low complexity region	386	395	N/A	INTRINSIC
low complexity region	639	646	N/A	INTRINSIC
Pfam:Peptidase_C48	734	999	7.8e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000089362
AA Change: T187A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000086779
Gene: ENSMUSG00000052917
AA Change: T187A

Domain	Start	End	E-Value	Type
low complexity region	192	208	N/A	INTRINSIC
low complexity region	379	403	N/A	INTRINSIC
low complexity region	413	422	N/A	INTRINSIC
low complexity region	666	673	N/A	INTRINSIC
Pfam:Peptidase_C48	761	1026	8.5e-36	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000201011
AA Change: T160A

PolyPhen 2 Score 0.493 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201915

Predicted Effect

possibly damaging
Transcript: ENSMUST00000202000
AA Change: T187A

PolyPhen 2 Score 0.493 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000144116
Gene: ENSMUSG00000052917
AA Change: T187A

Domain	Start	End	E-Value	Type
low complexity region	192	208	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000202799
AA Change: T160A

PolyPhen 2 Score 0.493 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000144348
Gene: ENSMUSG00000052917
AA Change: T160A

Domain	Start	End	E-Value	Type
internal_repeat_1	59	91	2.07e-5	PROSPERO
internal_repeat_1	125	157	2.07e-5	PROSPERO
low complexity region	165	181	N/A	INTRINSIC

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.7%
20x: 95.7%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a SUMO deconjugating enzyme of the Sentrin/SUMO-specific protease (SENP) family. The encoded protein is a protease that exhibits deSUMOylating activity towards proteins involved in chromatin remodeling and promotes chromatin relaxation for DNA repair or transcription. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2015]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730017C20Rik	A	G	18: 59,062,459		probably null	Het
Akap11	A	G	14: 78,510,753	V1398A	probably benign	Het
Ampd3	C	A	7: 110,795,790	D315E	probably damaging	Het
Ampd3	T	A	7: 110,795,791	F316I	probably damaging	Het
Arhgef40	A	C	14: 51,996,974	E911D	probably damaging	Het
Atxn2l	A	G	7: 126,501,416		probably null	Het
BC117090	T	C	16: 36,323,024		probably null	Het
Bckdhb	T	G	9: 83,953,736	F98V	probably damaging	Het
Calhm1	C	T	19: 47,143,841	V112I	probably benign	Het
Ccdc28a	G	A	10: 18,224,951	R90C	probably damaging	Het
Cdc40	A	T	10: 40,848,052	Y247N	probably benign	Het
Cds1	G	A	5: 101,814,433	V305M	probably damaging	Het
Cep128	T	G	12: 90,999,535		probably benign	Het
Cep72	A	T	13: 74,038,304	H249Q	probably damaging	Het
Cfap70	A	T	14: 20,448,563	Y19N	probably damaging	Het
Col11a1	T	C	3: 114,218,715		probably benign	Het
Cysltr1	A	G	X: 106,578,655	V75A	possibly damaging	Het
Dnah17	G	T	11: 118,090,749	Y1716*	probably null	Het
Dnm1	T	C	2: 32,335,824	E383G	possibly damaging	Het
Dst	C	A	1: 34,290,356		probably null	Het
Edil3	T	C	13: 89,184,849	S375P	probably damaging	Het
Eme1	A	G	11: 94,650,082	C277R	probably damaging	Het
Enam	T	C	5: 88,493,027	W183R	possibly damaging	Het
Fbxl6	C	T	15: 76,536,753	V341M	probably benign	Het
Fgf14	A	G	14: 124,676,603	S39P	probably damaging	Het
Fmo4	C	T	1: 162,803,651	R249H	possibly damaging	Het
Gle1	T	A	2: 29,940,228	D265E	probably benign	Het
Gml2	T	C	15: 74,821,386		probably null	Het
Golgb1	G	T	16: 36,916,330	E1980*	probably null	Het
Hap1	A	G	11: 100,349,305	L555P	probably damaging	Het
Heca	T	C	10: 17,915,291	D339G	possibly damaging	Het
Hepacam2	T	C	6: 3,483,479	T101A	possibly damaging	Het
Ift88	T	C	14: 57,496,221	V707A	probably benign	Het
Kdm3a	C	T	6: 71,620,046	G252D	probably benign	Het
Klhl11	A	G	11: 100,472,242	Y163H	probably damaging	Het
Kntc1	A	T	5: 123,786,074	N1008Y	probably damaging	Het
Lrp2	G	T	2: 69,486,243	N2131K	probably benign	Het
Lrrc6	T	A	15: 66,380,474	M448L	probably benign	Het
Magi3	C	G	3: 104,017,557	G1092A	probably damaging	Het
Mef2a	G	T	7: 67,235,148	S406*	probably null	Het
Mrps26	G	T	2: 130,563,858	R27L	possibly damaging	Het
Myof	T	C	19: 37,916,504	D1624G	probably damaging	Het
Naif1	T	C	2: 32,454,896	M204T	probably benign	Het
Ndufb8	T	C	19: 44,550,345	E179G	possibly damaging	Het
Neb	A	T	2: 52,326,757	D135E	probably benign	Het
Nlrp6	C	T	7: 140,923,486	Q502*	probably null	Het
Nploc4	A	G	11: 120,413,681	L238P	probably damaging	Het
Olfr463	G	A	11: 87,893,196	H243Y	probably damaging	Het
Parp4	T	A	14: 56,602,404	V523E	probably damaging	Het
Pdgfra	T	C	5: 75,163,777	Y98H	probably damaging	Het
Plcz1	C	T	6: 139,990,733	R590H	probably damaging	Het
Pnliprp1	T	A	19: 58,738,196	Y328*	probably null	Het
Pnpla8	C	T	12: 44,283,463	P48L	probably benign	Het
Rab44	T	A	17: 29,147,343		probably null	Het
Ranbp2	T	C	10: 58,493,898	I3031T	probably damaging	Het
Rnf219	T	C	14: 104,479,527	Y470C	probably damaging	Het
Sbno1	T	C	5: 124,384,541	D1072G	probably damaging	Het
Serpinh1	A	G	7: 99,349,394	C10R	unknown	Het
Sh2d4a	A	G	8: 68,346,694	Y405C	possibly damaging	Het
Slc26a7	T	C	4: 14,621,317	D23G	probably benign	Het
Slc7a7	A	G	14: 54,377,802	L246P	probably damaging	Het
Spire1	T	C	18: 67,528,875	R163G	probably damaging	Het
Stxbp2	T	A	8: 3,632,559	D49E	probably damaging	Het
Susd2	C	T	10: 75,638,235	A509T	probably benign	Het
Sycp2	A	G	2: 178,382,404	F396L	probably damaging	Het
Syne2	T	C	12: 75,963,813	L2499P	probably damaging	Het
Syt10	C	A	15: 89,826,941	A130S	probably benign	Het
Sytl4	A	T	X: 133,962,187	D16E	probably benign	Het
Tab2	C	T	10: 7,920,119	V126I	probably damaging	Het
Tecpr1	T	C	5: 144,211,499	T363A	probably damaging	Het
Terb2	A	G	2: 122,186,335	D16G	probably benign	Het
Tm2d2	A	G	8: 25,020,536	E137G	probably benign	Het
Trim30d	T	A	7: 104,472,485	H201L	probably damaging	Het
Tspan3	A	G	9: 56,147,385		probably null	Het
Ttn	A	T	2: 76,787,323	L16268Q	probably damaging	Het
Ttn	A	T	2: 76,796,185		probably null	Het
Ubap2	T	A	4: 41,218,319	T263S	probably benign	Het
Vmn2r100	C	A	17: 19,522,120	P252Q	possibly damaging	Het
Zeb2	A	T	2: 44,996,126	M973K	possibly damaging	Het
Zfp229	A	G	17: 21,746,634	E615G	probably damaging	Het
Zfp655	T	A	5: 145,244,057	S242T	possibly damaging	Het
Zfp788	T	A	7: 41,648,281	F62I	possibly damaging	Het
Zmynd8	A	G	2: 165,787,158		probably null	Het

Other mutations in Senp7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00895:Senp7	APN	16	56082377	missense	probably damaging	0.96
IGL01610:Senp7	APN	16	56175823	missense	possibly damaging	0.94
IGL01627:Senp7	APN	16	56171856	missense	probably damaging	1.00
IGL02748:Senp7	APN	16	56186094	missense	probably damaging	1.00
IGL03031:Senp7	APN	16	56175886	missense	probably damaging	1.00
IGL03083:Senp7	APN	16	56171865	missense	probably benign	0.28
R0034:Senp7	UTSW	16	56153570	missense	possibly damaging	0.63
R0200:Senp7	UTSW	16	56123873	missense	possibly damaging	0.66
R0242:Senp7	UTSW	16	56179521	missense	probably damaging	1.00
R0242:Senp7	UTSW	16	56179521	missense	probably damaging	1.00
R0547:Senp7	UTSW	16	56175826	missense	probably damaging	1.00
R1595:Senp7	UTSW	16	56184768	missense	probably damaging	1.00
R1737:Senp7	UTSW	16	56123799	missense	probably damaging	1.00
R1837:Senp7	UTSW	16	56158516	missense	probably benign	0.01
R1945:Senp7	UTSW	16	56123946	missense	probably damaging	0.98
R2143:Senp7	UTSW	16	56169806	missense	probably benign
R2275:Senp7	UTSW	16	56184783	missense	probably damaging	1.00
R2508:Senp7	UTSW	16	56151362	missense	probably benign	0.28
R3404:Senp7	UTSW	16	56188277	missense	probably damaging	1.00
R3405:Senp7	UTSW	16	56188277	missense	probably damaging	1.00
R3717:Senp7	UTSW	16	56179057	splice site	probably benign
R3885:Senp7	UTSW	16	56186079	missense	probably damaging	1.00
R4159:Senp7	UTSW	16	56153469	missense	possibly damaging	0.86
R4160:Senp7	UTSW	16	56153469	missense	possibly damaging	0.86
R4161:Senp7	UTSW	16	56153469	missense	possibly damaging	0.86
R4512:Senp7	UTSW	16	56165883	missense	probably damaging	1.00
R5291:Senp7	UTSW	16	56186179	nonsense	probably null
R5315:Senp7	UTSW	16	56180526	missense	probably benign	0.26
R5390:Senp7	UTSW	16	56169916	missense	probably benign
R5424:Senp7	UTSW	16	56186108	missense	possibly damaging	0.82
R5643:Senp7	UTSW	16	56184149	splice site	silent
R5644:Senp7	UTSW	16	56184149	splice site	silent
R5645:Senp7	UTSW	16	56173208	missense	possibly damaging	0.80
R5799:Senp7	UTSW	16	56139105	splice site	probably null
R5860:Senp7	UTSW	16	56155359	missense	possibly damaging	0.49
R5954:Senp7	UTSW	16	56169871	missense	probably benign	0.04
R6164:Senp7	UTSW	16	56169754	missense	probably damaging	1.00
R6280:Senp7	UTSW	16	56162375	missense	possibly damaging	0.62
R6647:Senp7	UTSW	16	56173255	missense	probably damaging	1.00
R6652:Senp7	UTSW	16	56123894	missense	probably benign	0.08
R7310:Senp7	UTSW	16	56186082	missense	probably benign	0.18
R7460:Senp7	UTSW	16	56173182	missense	possibly damaging	0.65
R7480:Senp7	UTSW	16	56155226	missense	possibly damaging	0.80
R7609:Senp7	UTSW	16	56111637	missense	probably benign	0.06
R7760:Senp7	UTSW	16	56139079	missense	probably benign
R8171:Senp7	UTSW	16	56111726	missense	probably damaging	1.00
R8290:Senp7	UTSW	16	56153637	nonsense	probably null
R8305:Senp7	UTSW	16	56155240	missense	probably damaging	1.00
R8353:Senp7	UTSW	16	56188328	missense	probably damaging	1.00
R8394:Senp7	UTSW	16	56169827	missense	possibly damaging	0.81
R8428:Senp7	UTSW	16	56179028	missense	probably damaging	1.00
R8453:Senp7	UTSW	16	56188328	missense	probably damaging	1.00
R8554:Senp7	UTSW	16	56158610	missense	probably benign	0.01
R8669:Senp7	UTSW	16	56165952	missense	probably damaging	0.97
R9153:Senp7	UTSW	16	56186123	missense	probably benign	0.34
R9521:Senp7	UTSW	16	56171781	missense	probably damaging	1.00
R9617:Senp7	UTSW	16	56151289	missense	probably benign	0.02
R9624:Senp7	UTSW	16	56169712	missense	probably damaging	1.00
R9631:Senp7	UTSW	16	56155268	missense	probably benign	0.45
R9657:Senp7	UTSW	16	56123932	nonsense	probably null
R9718:Senp7	UTSW	16	56123914	missense	probably damaging	0.98
R9727:Senp7	UTSW	16	56169806	missense	probably benign
U24488:Senp7	UTSW	16	56184819	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CGTTGATTCCCTGAATGCTACGATCC -3'
(R):5'- ACTGCTGCTTCCAAAAGACATCCTATG -3'

Sequencing Primer
(F):5'- CCTGAATGCTACGATCCTAATAAAG -3'
(R):5'- TATGGGCAAAAGTCACACTAGC -3'

Posted On

2013-07-11