Mutagenetix > Incidental Mutation

Incidental Mutation 'R1837:Senp7'

205440

Institutional Source

Beutler Lab

Gene Symbol

Senp7

Ensembl Gene

ENSMUSG00000052917

Gene Name

SUMO1/sentrin specific peptidase 7

Synonyms

2900036C23Rik, 6030449K19Rik, 2410152H17Rik, 2810413I22Rik

MMRRC Submission

039864-MU

Accession Numbers

Essential gene?

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

Stock #

R1837 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55869306-56010394 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55978879 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 471 (C471S)

Ref Sequence

ENSEMBL: ENSMUSP00000086776 (fasta)

Gene Model

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

AlphaFold

Q8BUH8

Predicted Effect

probably benign
Transcript: ENSMUST00000089360
AA Change: C471S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000086776
Gene: ENSMUSG00000052917
AA Change: C471S

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: C498S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000086779
Gene: ENSMUSG00000052917
AA Change: C498S

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 94.9%
20x: 91.6%

Validation Efficiency

99% (86/87)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl10	G	T	2: 154,394,962 (GRCm39)	G305W	probably damaging	Het
Actr3b	A	T	5: 26,030,157 (GRCm39)	T74S	probably benign	Het
Add2	A	G	6: 86,095,540 (GRCm39)	E652G	probably damaging	Het
Alg9	T	A	9: 50,717,615 (GRCm39)	V83D	probably damaging	Het
Atp13a2	T	A	4: 140,721,643 (GRCm39)	Y244*	probably null	Het
BB014433	C	G	8: 15,092,629 (GRCm39)	V75L	unknown	Het
Bcr	A	G	10: 75,003,932 (GRCm39)		probably benign	Het
Begain	G	A	12: 109,001,249 (GRCm39)		probably benign	Het
Bzw1	A	G	1: 58,439,277 (GRCm39)	K67E	probably damaging	Het
Ccdc141	T	C	2: 76,842,009 (GRCm39)	E1474G	probably benign	Het
Cdc73	T	A	1: 143,543,395 (GRCm39)	T314S	possibly damaging	Het
Cfap206	T	C	4: 34,728,813 (GRCm39)	T31A	probably damaging	Het
Cfap58	G	A	19: 48,017,578 (GRCm39)	E813K	probably damaging	Het
Clstn2	C	A	9: 97,465,593 (GRCm39)	A133S	probably benign	Het
Col14a1	A	T	15: 55,245,891 (GRCm39)	D465V	unknown	Het
Col2a1	C	T	15: 97,894,522 (GRCm39)		probably benign	Het
Dab2	A	G	15: 6,365,957 (GRCm39)		probably benign	Het
Eme1	T	C	11: 94,536,787 (GRCm39)	D464G	probably benign	Het
Eml6	T	C	11: 29,699,802 (GRCm39)		probably null	Het
Ern1	C	A	11: 106,349,783 (GRCm39)	L44F	probably damaging	Het
Fam111a	T	A	19: 12,564,816 (GRCm39)	S188R	probably benign	Het
Fam151b	A	T	13: 92,610,639 (GRCm39)		probably benign	Het
Fmo6	T	C	1: 162,750,379 (GRCm39)	N226D	probably benign	Het
Ggt1	A	G	10: 75,415,128 (GRCm39)	D214G	probably benign	Het
Gm14226	A	G	2: 154,866,930 (GRCm39)	I296V	probably benign	Het
Gm9915	A	T	1: 42,269,847 (GRCm39)		noncoding transcript	Het
Heatr5b	T	C	17: 79,128,180 (GRCm39)	D485G	possibly damaging	Het
Helz2	A	T	2: 180,871,082 (GRCm39)	I2785N	probably damaging	Het
Htt	C	T	5: 34,976,367 (GRCm39)	T723M	probably benign	Het
Hydin	C	A	8: 111,296,257 (GRCm39)	H3595Q	probably benign	Het
Il6ra	T	C	3: 89,797,579 (GRCm39)	D96G	probably benign	Het
Kif5a	G	A	10: 127,072,684 (GRCm39)	Q702*	probably null	Het
Klhdc7a	G	T	4: 139,694,381 (GRCm39)	P189T	probably benign	Het
Krt7	A	G	15: 101,317,463 (GRCm39)	D252G	probably benign	Het
Lad1	C	A	1: 135,757,444 (GRCm39)	D394E	probably benign	Het
Lhx8	A	T	3: 154,033,692 (GRCm39)	C38S	possibly damaging	Het
Lta4h	C	T	10: 93,305,037 (GRCm39)	T280M	probably damaging	Het
Magi2	A	T	5: 20,670,825 (GRCm39)	T163S	probably damaging	Het
Med1	G	T	11: 98,060,238 (GRCm39)	D230E	probably damaging	Het
Mmp1b	A	T	9: 7,386,409 (GRCm39)	F171I	probably damaging	Het
Mprip	T	C	11: 59,657,571 (GRCm39)	V801A	probably damaging	Het
Mtrf1	A	G	14: 79,639,273 (GRCm39)	E135G	possibly damaging	Het
Muc5ac	T	A	7: 141,360,823 (GRCm39)	M1378K	probably benign	Het
Myo3a	A	T	2: 22,467,604 (GRCm39)	Q286L	possibly damaging	Het
Ndor1	C	T	2: 25,138,408 (GRCm39)	G391R	probably damaging	Het
Nefl	C	T	14: 68,324,075 (GRCm39)	R438C	probably damaging	Het
Nlrp3	G	A	11: 59,439,742 (GRCm39)	V440I	probably benign	Het
Notch3	A	T	17: 32,343,296 (GRCm39)	L1959Q	probably damaging	Het
Noto	A	G	6: 85,401,159 (GRCm39)	T63A	probably benign	Het
Oc90	G	A	15: 65,761,529 (GRCm39)	T163M	probably damaging	Het
Or1l4	T	A	2: 37,092,114 (GRCm39)	M287K	probably benign	Het
Or4c114	A	T	2: 88,905,176 (GRCm39)	Y86*	probably null	Het
Or5an10	A	G	19: 12,275,740 (GRCm39)	V252A	probably damaging	Het
Pdpr	C	A	8: 111,861,366 (GRCm39)	P787T	probably damaging	Het
Phlda1	A	G	10: 111,343,092 (GRCm39)	Q276R	probably benign	Het
Ptpn21	T	G	12: 98,699,885 (GRCm39)	K10Q	probably damaging	Het
Ptprb	A	G	10: 116,177,531 (GRCm39)	E1364G	probably benign	Het
Rabep1	T	A	11: 70,795,484 (GRCm39)	W237R	probably damaging	Het
Rai1	A	T	11: 60,080,224 (GRCm39)	K1429N	probably damaging	Het
Rapgef1	A	G	2: 29,627,438 (GRCm39)	I1027M	probably damaging	Het
Rit1	C	G	3: 88,636,477 (GRCm39)	T127S	probably damaging	Het
Rpap1	A	C	2: 119,600,366 (GRCm39)		probably null	Het
Slc16a14	A	G	1: 84,890,120 (GRCm39)	V395A	probably benign	Het
Slc45a1	C	T	4: 150,722,916 (GRCm39)	G323S	probably benign	Het
Syne2	A	T	12: 76,014,434 (GRCm39)	E3208D	probably damaging	Het
Tap1	C	T	17: 34,407,083 (GRCm39)	A77V	possibly damaging	Het
Ticam1	T	C	17: 56,577,799 (GRCm39)	E432G	possibly damaging	Het
Tmem192	C	A	8: 65,416,992 (GRCm39)		probably benign	Het
Trub1	T	C	19: 57,441,461 (GRCm39)	V28A	probably benign	Het
Ttc21b	A	T	2: 66,028,106 (GRCm39)	L1121H	probably benign	Het
Ttc38	A	G	15: 85,735,764 (GRCm39)	D290G	probably damaging	Het
Ulk1	C	T	5: 110,937,247 (GRCm39)	G683D	probably damaging	Het
Vmn1r122	A	T	7: 20,867,291 (GRCm39)	F255I	probably benign	Het
Vmn2r68	T	A	7: 84,882,886 (GRCm39)	I289F	probably damaging	Het
Vps39	A	T	2: 120,155,878 (GRCm39)	L514H	probably damaging	Het
Wdr48	T	G	9: 119,734,482 (GRCm39)	S134A	probably damaging	Het
Yap1	A	T	9: 7,962,350 (GRCm39)	Y139N	probably damaging	Het
Ylpm1	T	C	12: 85,076,107 (GRCm39)	V486A	possibly damaging	Het
Zbtb38	T	C	9: 96,569,048 (GRCm39)	T679A	probably benign	Het
Zfp292	A	G	4: 34,810,264 (GRCm39)	S927P	probably damaging	Het
Zfp324	C	T	7: 12,704,156 (GRCm39)	T115I	probably benign	Het
Zfp523	T	A	17: 28,413,967 (GRCm39)	I34N	probably damaging	Het
Zfp945	A	T	17: 23,070,247 (GRCm39)	C551S	probably damaging	Het
Zfp958	A	G	8: 4,678,590 (GRCm39)	H205R	probably damaging	Het
Zfp974	G	A	7: 27,609,781 (GRCm39)	P648L	possibly 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
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
R4160: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'- ATGTCCAAGATTCATAGTTGAACAAT -3'
(R):5'- AGCAGCTGTCTTGGCATGA -3'

Sequencing Primer
(F):5'- TCTTTGAACCTAATTTTCAGC -3'
(R):5'- ATAACCTGCTCAGTCTGTGCAAGG -3'

Posted On

2014-06-23