Mutagenetix > Incidental Mutation

Incidental Mutation 'R4160:Senp7'

315713

Institutional Source

Beutler Lab

Gene Symbol

Senp7

Ensembl Gene

ENSMUSG00000052917

Gene Name

SUMO1/sentrin specific peptidase 7

Synonyms

2900036C23Rik, 6030449K19Rik, 2410152H17Rik, 2810413I22Rik

MMRRC Submission

041003-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.246) question?

Stock #

R4160 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55869306-56010394 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 55973832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 351 (P351Q)

Ref Sequence

ENSEMBL: ENSMUSP00000086779 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089360] [ENSMUST00000089362]

AlphaFold

Q8BUH8

Predicted Effect

probably benign
Transcript: ENSMUST00000089360
AA Change: P324Q

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000086776
Gene: ENSMUSG00000052917
AA Change: P324Q

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

possibly damaging
Transcript: ENSMUST00000089362
AA Change: P351Q

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000086779
Gene: ENSMUSG00000052917
AA Change: P351Q

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

noncoding transcript
Transcript: ENSMUST00000231653

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

89% (34/38)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf4	G	T	17: 42,978,568 (GRCm39)	H258Q	probably benign	Het
Ankrd1	T	A	19: 36,095,273 (GRCm39)	K138N	probably damaging	Het
Arhgef19	T	C	4: 140,973,660 (GRCm39)	I49T	possibly damaging	Het
Bltp3a	A	G	17: 28,103,061 (GRCm39)	Y365C	probably damaging	Het
Cacnb3	G	T	15: 98,538,601 (GRCm39)	G148C	probably damaging	Het
Cep350	G	A	1: 155,808,621 (GRCm39)	R652W	probably damaging	Het
Cyp19a1	G	A	9: 54,093,980 (GRCm39)	T94I	probably damaging	Het
D130043K22Rik	A	C	13: 25,046,679 (GRCm39)	E360D	probably benign	Het
Dse	A	G	10: 34,029,330 (GRCm39)	F587L	probably damaging	Het
Efcab14	A	C	4: 115,597,594 (GRCm39)	D63A	probably damaging	Het
Ibtk	T	C	9: 85,585,143 (GRCm39)	E1167G	probably benign	Het
Ikzf4	A	T	10: 128,479,605 (GRCm39)		probably benign	Het
Magi3	T	C	3: 103,958,277 (GRCm39)	K603E	probably damaging	Het
Myh13	T	C	11: 67,255,636 (GRCm39)		probably benign	Het
Nox4	A	T	7: 87,046,032 (GRCm39)	H557L	possibly damaging	Het
Oasl1	A	G	5: 115,075,073 (GRCm39)	K378E	possibly damaging	Het
Pdia3	A	T	2: 121,244,596 (GRCm39)	D26V	probably damaging	Het
Pds5a	T	C	5: 65,821,839 (GRCm39)	T120A	possibly damaging	Het
Phf8-ps	G	A	17: 33,285,023 (GRCm39)	T593I	probably benign	Het
Pkn2	G	A	3: 142,509,325 (GRCm39)	P740S	probably benign	Het
Pla2r1	A	T	2: 60,252,966 (GRCm39)	I1375K	probably damaging	Het
Pld2	T	C	11: 70,432,253 (GRCm39)	L124P	probably damaging	Het
Ppp6r3	T	A	19: 3,562,037 (GRCm39)	H208L	probably damaging	Het
Prr36	G	T	8: 4,262,910 (GRCm39)	Q919K	probably benign	Het
Ptpn1	T	C	2: 167,809,731 (GRCm39)	I113T	probably benign	Het
Ptprz1	T	C	6: 23,022,204 (GRCm39)	I844T	possibly damaging	Het
Rbl1	A	G	2: 157,034,039 (GRCm39)		probably benign	Het
Sdk1	A	G	5: 142,100,154 (GRCm39)	I1395V	probably benign	Het
Slc26a7	T	C	4: 14,544,197 (GRCm39)	T369A	probably benign	Het
Tnxb	A	G	17: 34,930,491 (GRCm39)	T2059A	probably damaging	Het
Vat1l	T	A	8: 115,098,469 (GRCm39)	M413K	probably benign	Het
Vps11	C	G	9: 44,267,017 (GRCm39)	G406A	probably damaging	Het
Wnk2	C	T	13: 49,244,313 (GRCm39)	D508N	probably damaging	Het

Other mutations in Senp7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00895:Senp7	APN	16	55,902,740 (GRCm39)	missense	probably damaging	0.96
IGL01610:Senp7	APN	16	55,996,186 (GRCm39)	missense	possibly damaging	0.94
IGL01627:Senp7	APN	16	55,992,219 (GRCm39)	missense	probably damaging	1.00
IGL02748:Senp7	APN	16	56,006,457 (GRCm39)	missense	probably damaging	1.00
IGL03031:Senp7	APN	16	55,996,249 (GRCm39)	missense	probably damaging	1.00
IGL03083:Senp7	APN	16	55,992,228 (GRCm39)	missense	probably benign	0.28
R0034:Senp7	UTSW	16	55,973,933 (GRCm39)	missense	possibly damaging	0.63
R0200:Senp7	UTSW	16	55,944,236 (GRCm39)	missense	possibly damaging	0.66
R0242:Senp7	UTSW	16	55,999,884 (GRCm39)	missense	probably damaging	1.00
R0242:Senp7	UTSW	16	55,999,884 (GRCm39)	missense	probably damaging	1.00
R0547:Senp7	UTSW	16	55,996,189 (GRCm39)	missense	probably damaging	1.00
R0608:Senp7	UTSW	16	55,944,236 (GRCm39)	missense	possibly damaging	0.66
R1595:Senp7	UTSW	16	56,005,131 (GRCm39)	missense	probably damaging	1.00
R1737:Senp7	UTSW	16	55,944,162 (GRCm39)	missense	probably damaging	1.00
R1837:Senp7	UTSW	16	55,978,879 (GRCm39)	missense	probably benign	0.01
R1945:Senp7	UTSW	16	55,944,309 (GRCm39)	missense	probably damaging	0.98
R2143:Senp7	UTSW	16	55,990,169 (GRCm39)	missense	probably benign
R2275:Senp7	UTSW	16	56,005,146 (GRCm39)	missense	probably damaging	1.00
R2508:Senp7	UTSW	16	55,971,725 (GRCm39)	missense	probably benign	0.28
R3404:Senp7	UTSW	16	56,008,640 (GRCm39)	missense	probably damaging	1.00
R3405:Senp7	UTSW	16	56,008,640 (GRCm39)	missense	probably damaging	1.00
R3717:Senp7	UTSW	16	55,999,420 (GRCm39)	splice site	probably benign
R3885:Senp7	UTSW	16	56,006,442 (GRCm39)	missense	probably damaging	1.00
R4159:Senp7	UTSW	16	55,973,832 (GRCm39)	missense	possibly damaging	0.86
R4161:Senp7	UTSW	16	55,973,832 (GRCm39)	missense	possibly damaging	0.86
R4512:Senp7	UTSW	16	55,986,246 (GRCm39)	missense	probably damaging	1.00
R5291:Senp7	UTSW	16	56,006,542 (GRCm39)	nonsense	probably null
R5315:Senp7	UTSW	16	56,000,889 (GRCm39)	missense	probably benign	0.26
R5390:Senp7	UTSW	16	55,990,279 (GRCm39)	missense	probably benign
R5424:Senp7	UTSW	16	56,006,471 (GRCm39)	missense	possibly damaging	0.82
R5643:Senp7	UTSW	16	56,004,512 (GRCm39)	splice site	silent
R5644:Senp7	UTSW	16	56,004,512 (GRCm39)	splice site	silent
R5645:Senp7	UTSW	16	55,993,571 (GRCm39)	missense	possibly damaging	0.80
R5799:Senp7	UTSW	16	55,959,468 (GRCm39)	splice site	probably null
R5860:Senp7	UTSW	16	55,975,722 (GRCm39)	missense	possibly damaging	0.49
R5954:Senp7	UTSW	16	55,990,234 (GRCm39)	missense	probably benign	0.04
R6164:Senp7	UTSW	16	55,990,117 (GRCm39)	missense	probably damaging	1.00
R6280:Senp7	UTSW	16	55,982,738 (GRCm39)	missense	possibly damaging	0.62
R6647:Senp7	UTSW	16	55,993,618 (GRCm39)	missense	probably damaging	1.00
R6652:Senp7	UTSW	16	55,944,257 (GRCm39)	missense	probably benign	0.08
R7310:Senp7	UTSW	16	56,006,445 (GRCm39)	missense	probably benign	0.18
R7460:Senp7	UTSW	16	55,993,545 (GRCm39)	missense	possibly damaging	0.65
R7480:Senp7	UTSW	16	55,975,589 (GRCm39)	missense	possibly damaging	0.80
R7609:Senp7	UTSW	16	55,932,000 (GRCm39)	missense	probably benign	0.06
R7760:Senp7	UTSW	16	55,959,442 (GRCm39)	missense	probably benign
R8171:Senp7	UTSW	16	55,932,089 (GRCm39)	missense	probably damaging	1.00
R8290:Senp7	UTSW	16	55,974,000 (GRCm39)	nonsense	probably null
R8305:Senp7	UTSW	16	55,975,603 (GRCm39)	missense	probably damaging	1.00
R8353:Senp7	UTSW	16	56,008,691 (GRCm39)	missense	probably damaging	1.00
R8394:Senp7	UTSW	16	55,990,190 (GRCm39)	missense	possibly damaging	0.81
R8428:Senp7	UTSW	16	55,999,391 (GRCm39)	missense	probably damaging	1.00
R8453:Senp7	UTSW	16	56,008,691 (GRCm39)	missense	probably damaging	1.00
R8554:Senp7	UTSW	16	55,978,973 (GRCm39)	missense	probably benign	0.01
R8669:Senp7	UTSW	16	55,986,315 (GRCm39)	missense	probably damaging	0.97
R9153:Senp7	UTSW	16	56,006,486 (GRCm39)	missense	probably benign	0.34
R9521:Senp7	UTSW	16	55,992,144 (GRCm39)	missense	probably damaging	1.00
R9617:Senp7	UTSW	16	55,971,652 (GRCm39)	missense	probably benign	0.02
R9624:Senp7	UTSW	16	55,990,075 (GRCm39)	missense	probably damaging	1.00
R9631:Senp7	UTSW	16	55,975,631 (GRCm39)	missense	probably benign	0.45
R9657:Senp7	UTSW	16	55,944,295 (GRCm39)	nonsense	probably null
R9718:Senp7	UTSW	16	55,944,277 (GRCm39)	missense	probably damaging	0.98
R9727:Senp7	UTSW	16	55,990,169 (GRCm39)	missense	probably benign
U24488:Senp7	UTSW	16	56,005,182 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGCCAAGCACATTTAGTATAGCTTG -3'
(R):5'- TTTAGAGTCAACGCCTCACCC -3'

Sequencing Primer
(F):5'- AGCTTGTAGCTATCTGTCT -3'
(R):5'- CTTCACAGCCACGGAAGAATTCTC -3'

Posted On

2015-05-14