Mutagenetix > Incidental Mutations

Incidental Mutation 'R7609:Senp7'

588516

Institutional Source

Beutler Lab

Gene Symbol

Senp7

Ensembl Gene

ENSMUSG00000052917

Gene Name

SUMO1/sentrin specific peptidase 7

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.410) question?

Stock #

R7609 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56048338-56190012 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56111637 bp

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 100 (W100R)

Ref Sequence

ENSEMBL: ENSMUSP00000086779 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000049128
AA Change: W100R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000043023
Gene: ENSMUSG00000052917
AA Change: W100R

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: W73R

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000086776
Gene: ENSMUSG00000052917
AA Change: W73R

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: W100R

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000086779
Gene: ENSMUSG00000052917
AA Change: W100R

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: W73R

PolyPhen 2 Score 0.569 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

probably damaging
Transcript: ENSMUST00000202000
AA Change: W100R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144116
Gene: ENSMUSG00000052917
AA Change: W100R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000202799
AA Change: W73R

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000144348
Gene: ENSMUSG00000052917
AA Change: W73R

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

Meta Mutation Damage Score

0.0594

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

96% (69/72)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	C	9: 55,989,460	Y288C	probably benign	Het
Acta2	G	A	19: 34,252,531	T8I	probably benign	Het
Agl	C	A	3: 116,807,279	R24I	possibly damaging	Het
Aldoart2	A	G	12: 55,566,048	T253A	probably benign	Het
Ankrd39	G	A	1: 36,539,465	R160W	probably damaging	Het
Aspscr1	C	T	11: 120,677,522	T57M	probably damaging	Het
Baz2b	A	G	2: 59,962,473	L437S	probably benign	Het
Bcl9l	T	A	9: 44,505,747	L331Q	probably damaging	Het
Cdhr4	C	A	9: 107,997,283	P546T	probably damaging	Het
Cfap61	T	C	2: 146,112,533	C231R	unknown	Het
Cnih4	T	C	1: 181,155,902	L61P	probably damaging	Het
Dtx4	A	G	19: 12,492,281	Y161H	probably damaging	Het
Epha7	C	T	4: 28,871,937	S422L	probably benign	Het
Ercc6	A	G	14: 32,566,361	H830R	probably benign	Het
Exoc7	T	C	11: 116,289,259	N673S	possibly damaging	Het
Gm12185	T	C	11: 48,916,023	S114G	possibly damaging	Het
Hsfy2	A	T	1: 56,637,151	F76I	probably benign	Het
Igsf9b	A	G	9: 27,345,890	D1413G	probably benign	Het
Klk8	G	A	7: 43,802,179	C198Y	probably damaging	Het
Lama3	G	T	18: 12,531,834		probably null	Het
Lce3f	A	T	3: 92,993,096	S75C	unknown	Het
Ldhal6b	T	C	17: 5,417,991	M223V	probably benign	Het
Magoh	T	C	4: 107,887,212	V126A	possibly damaging	Het
Mc1r	A	T	8: 123,408,293	I262F	probably damaging	Het
Mecom	A	G	3: 29,956,442	I629T	probably damaging	Het
Mkrn2os	A	G	6: 115,586,726	V116A	possibly damaging	Het
Muc5b	T	A	7: 141,861,729	V2804D	possibly damaging	Het
Myo15	T	C	11: 60,488,811	V279A		Het
Nhlrc2	A	G	19: 56,594,896	I600V	probably benign	Het
Nipbl	T	C	15: 8,305,872	Q2183R	probably benign	Het
Obscn	C	T	11: 59,000,299	E7136K	unknown	Het
Olfr1118	T	C	2: 87,309,509	V260A	probably benign	Het
Olfr25	A	C	9: 38,330,224	L209F	possibly damaging	Het
Olfr481	T	A	7: 108,081,546	F251I	probably damaging	Het
Olfr970	C	T	9: 39,820,287	T216I	probably benign	Het
Otop3	T	C	11: 115,339,720	I141T	possibly damaging	Het
Pde4dip	C	A	3: 97,715,565	V1443F	possibly damaging	Het
Pdgfra	T	C	5: 75,166,721	V193A	probably benign	Het
Phf3	T	C	1: 30,805,501	Y1459C	probably benign	Het
Pias4	A	T	10: 81,158,026		probably null	Het
Plcg2	A	G	8: 117,558,113	N159S	probably benign	Het
Plekha7	T	C	7: 116,164,446	D307G	probably benign	Het
Ptprd	T	C	4: 76,072,003	K491E	probably benign	Het
Rbpjl	A	T	2: 164,405,814	R62S	probably benign	Het
Rgs11	T	C	17: 26,207,441	S245P	probably damaging	Het
Ripor3	G	A	2: 167,984,570	A685V	possibly damaging	Het
Rnase9	G	A	14: 51,039,483	P13S	possibly damaging	Het
Scin	C	T	12: 40,124,589	C165Y	probably damaging	Het
Slc26a2	T	C	18: 61,198,460	D633G	probably benign	Het
Slc4a4	C	T	5: 89,135,686	P446S	probably damaging	Het
Soga3	A	T	10: 29,148,228	D380V	probably damaging	Het
Spag17	T	A	3: 100,095,595	C1878*	probably null	Het
Ssc5d	A	G	7: 4,927,576	E129G	possibly damaging	Het
Supt6	T	C	11: 78,226,951	N480D	probably benign	Het
Tbk1	A	G	10: 121,552,501	L590S	probably damaging	Het
Tex45	A	T	8: 3,476,057	H70L	probably benign	Het
Tmem63a	T	A	1: 180,952,974		probably null	Het
Tpsg1	G	T	17: 25,373,210	G86V	probably damaging	Het
Trio	A	G	15: 27,912,642	S109P	unknown	Het
Tsga10	A	T	1: 37,804,893		probably null	Het
Ttn	A	T	2: 76,795,763	L14984*	probably null	Het
Tyr	T	C	7: 87,483,884	T325A	probably benign	Het
U2surp	A	T	9: 95,485,679		probably null	Het
Uba6	C	A	5: 86,147,075	K368N	probably benign	Het
Upb1	A	G	10: 75,436,201	T283A	probably benign	Het
Urb1	CACTTAC	CAC	16: 90,772,573		probably benign	Het
Vmn1r31	A	G	6: 58,472,470	Y137H	probably damaging	Het
Wdtc1	T	C	4: 133,296,437	K541R	probably damaging	Het
Wrn	A	G	8: 33,310,713	I624T	possibly damaging	Het
Zfp804b	T	A	5: 6,770,066	D999V	possibly damaging	Het
Zmym4	T	A	4: 126,925,795	H105L	probably benign	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
R0608:Senp7	UTSW	16	56123873	missense	possibly damaging	0.66
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
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
U24488:Senp7	UTSW	16	56184819	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATCCCAATGTAAGTGAAGTAGGC -3'
(R):5'- ACACTATGTAACGTACCTTTCGG -3'

Sequencing Primer
(F):5'- CCCAATGTAAGTGAAGTAGGCTTTAC -3'
(R):5'- CGTACCTTTCGGATAAATTAAGGC -3'

Posted On

2019-10-24