Mutagenetix > Incidental Mutation

Incidental Mutation 'R7422:Senp6'

575748

Institutional Source

Beutler Lab

Gene Symbol

Senp6

Ensembl Gene

ENSMUSG00000034252

Gene Name

SUMO/sentrin specific peptidase 6

Synonyms

2810017C20Rik, E130319N12Rik

MMRRC Submission

045500-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7422 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79974185-80052235 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80021159 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 280 (R280G)

Ref Sequence

ENSEMBL: ENSMUSP00000126777 (fasta)

Gene Model

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

AlphaFold

Q6P7W0

Predicted Effect

probably damaging
Transcript: ENSMUST00000037484
AA Change: R273G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047220
Gene: ENSMUSG00000034252
AA Change: R273G

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 damaging
Transcript: ENSMUST00000164859
AA Change: R107G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128918
Gene: ENSMUSG00000034252
AA Change: R107G

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

probably damaging
Transcript: ENSMUST00000165607
AA Change: R280G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126777
Gene: ENSMUSG00000034252
AA Change: R280G

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

probably benign
Transcript: ENSMUST00000175999

Predicted Effect

probably benign
Transcript: ENSMUST00000176360

Predicted Effect

probably benign
Transcript: ENSMUST00000176640

Predicted Effect

probably benign
Transcript: ENSMUST00000176648

Meta Mutation Damage Score

0.2926

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.9%

Validation Efficiency

97% (98/101)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	A	11: 58,771,885 (GRCm39)	C456S	probably damaging	Het
4930524J08Rik	T	C	5: 100,127,068 (GRCm39)		probably benign	Het
Adam28	T	G	14: 68,864,326 (GRCm39)	R492S	probably damaging	Het
Adarb2	G	A	13: 8,807,313 (GRCm39)	A705T	possibly damaging	Het
Adprhl1	T	C	8: 13,272,873 (GRCm39)	D1295G	probably benign	Het
Aldh3b3	A	G	19: 4,016,476 (GRCm39)	I365V	probably benign	Het
Aldh8a1	T	C	10: 21,264,996 (GRCm39)	F208L	possibly damaging	Het
Ap3b1	G	A	13: 94,664,673 (GRCm39)	V871I	unknown	Het
Apol7e	A	T	15: 77,598,552 (GRCm39)	R6*	probably null	Het
Arfgap3	T	C	15: 83,191,150 (GRCm39)	E456G	probably damaging	Het
Arhgef1	T	C	7: 24,615,461 (GRCm39)	L285P	probably benign	Het
Arhgef7	T	A	8: 11,850,861 (GRCm39)	C315S	probably benign	Het
Atp9a	A	T	2: 168,490,513 (GRCm39)	L829Q	probably damaging	Het
Babam2	T	A	5: 31,888,393 (GRCm39)		probably null	Het
Bptf	C	T	11: 106,951,384 (GRCm39)	R2185H	probably damaging	Het
Brd9	A	C	13: 74,102,697 (GRCm39)	M473L	probably benign	Het
C7	T	C	15: 5,041,538 (GRCm39)	H456R	probably benign	Het
Cabp7	C	A	11: 4,688,856 (GRCm39)	A205S	probably damaging	Het
Catsperb	A	G	12: 101,554,293 (GRCm39)	I662M	probably damaging	Het
Ccl21a	T	C	4: 42,773,906 (GRCm39)	M5V	probably benign	Het
Cdyl	G	T	13: 36,042,177 (GRCm39)	R405L	possibly damaging	Het
Cep89	T	C	7: 35,127,672 (GRCm39)	L538P	probably damaging	Het
Cercam	A	G	2: 29,762,892 (GRCm39)	M209V	possibly damaging	Het
Chfr	T	A	5: 110,310,571 (GRCm39)		probably null	Het
Cntnap5c	T	A	17: 58,717,226 (GRCm39)	Y1269*	probably null	Het
Col6a2	G	T	10: 76,439,170 (GRCm39)	C833*	probably null	Het
Cpeb3	T	A	19: 37,151,900 (GRCm39)	I159F	probably benign	Het
Cplx2	G	A	13: 54,526,663 (GRCm39)	E24K	possibly damaging	Het
Ctsb	A	G	14: 63,379,752 (GRCm39)	T332A	probably benign	Het
Cyp2j12	T	A	4: 96,029,222 (GRCm39)	T20S	probably benign	Het
Dcst2	T	A	3: 89,273,993 (GRCm39)	H181Q	probably damaging	Het
Dnm1l	T	C	16: 16,136,338 (GRCm39)	I411V	probably benign	Het
Dock5	T	A	14: 68,046,479 (GRCm39)	I768F	probably benign	Het
Ecel1	A	G	1: 87,077,334 (GRCm39)	Y625H	probably damaging	Het
Efl1	T	G	7: 82,330,587 (GRCm39)	S253R	probably damaging	Het
Elmod1	T	A	9: 53,820,127 (GRCm39)	D287V	probably damaging	Het
Fam171a2	T	C	11: 102,329,491 (GRCm39)	S423G	probably benign	Het
Fbxo8	A	T	8: 57,022,317 (GRCm39)		probably null	Het
Flnc	G	T	6: 29,455,470 (GRCm39)	G2040W	probably damaging	Het
Fras1	C	T	5: 96,821,458 (GRCm39)	A1405V	probably benign	Het
Frem3	A	C	8: 81,342,392 (GRCm39)	I1562L	probably benign	Het
Fxr1	C	T	3: 34,103,369 (GRCm39)	A233V	probably damaging	Het
H1f9	A	G	11: 94,859,184 (GRCm39)	R160G	possibly damaging	Het
Helb	A	G	10: 119,944,799 (GRCm39)	F246L	probably damaging	Het
Hoxb6	G	T	11: 96,183,510 (GRCm39)		probably benign	Het
Hspa2	A	G	12: 76,452,884 (GRCm39)	E526G	probably damaging	Het
Hyal5	A	T	6: 24,875,983 (GRCm39)		probably benign	Het
Ints6	A	T	14: 62,942,224 (GRCm39)	V503E	probably benign	Het
Ints9	C	T	14: 65,269,747 (GRCm39)	T479I	possibly damaging	Het
Jag1	C	T	2: 136,926,975 (GRCm39)	R928H	probably benign	Het
Lman2	A	T	13: 55,499,338 (GRCm39)	I179N	probably damaging	Het
Lta	T	C	17: 35,422,805 (GRCm39)	S173G	probably benign	Het
Mki67	G	A	7: 135,300,099 (GRCm39)	P1645L	probably damaging	Het
Mrc2	A	T	11: 105,183,609 (GRCm39)		probably benign	Het
Muc4	T	A	16: 32,754,689 (GRCm38)	M1521K	probably benign	Het
Mucl3	T	A	17: 35,949,312 (GRCm39)	T96S	probably benign	Het
Mylk3	T	G	8: 86,081,873 (GRCm39)	D438A	probably benign	Het
Myo7a	T	A	7: 97,700,833 (GRCm39)		probably null	Het
Nsmce4a	G	T	7: 130,135,547 (GRCm39)	Q342K	probably benign	Het
Or10ac1	A	G	6: 42,515,053 (GRCm39)	I301T	possibly damaging	Het
Or4c124	T	A	2: 89,156,423 (GRCm39)	I34F	probably benign	Het
Or5p60	A	G	7: 107,724,068 (GRCm39)	L134P	probably damaging	Het
Or6c65	A	T	10: 129,604,136 (GRCm39)	Y257F	possibly damaging	Het
Osbpl6	T	A	2: 76,423,730 (GRCm39)	F864L	probably damaging	Het
Pla2g4a	A	G	1: 149,808,438 (GRCm39)	S2P	probably benign	Het
Plce1	T	C	19: 38,640,329 (GRCm39)	L525P	probably damaging	Het
Por	A	T	5: 135,763,773 (GRCm39)	M667L	probably benign	Het
Psma4	T	C	9: 54,862,166 (GRCm39)	Y97H	probably benign	Het
Qtrt1	A	T	9: 21,323,753 (GRCm39)	H126L	probably benign	Het
Rab3a	A	T	8: 71,209,170 (GRCm39)	Y102F	possibly damaging	Het
Rnf212	T	A	5: 108,879,555 (GRCm39)	H87L	probably benign	Het
Rnf216	A	G	5: 143,076,591 (GRCm39)	S98P	probably benign	Het
Ryr1	G	T	7: 28,785,295 (GRCm39)	R1806S	probably benign	Het
Scgb1b3	A	T	7: 31,075,262 (GRCm39)	L37F	probably benign	Het
Sds	T	C	5: 120,617,254 (GRCm39)	S37P	probably damaging	Het
She	T	A	3: 89,761,864 (GRCm39)	I441K	possibly damaging	Het
Slc6a20b	A	G	9: 123,436,682 (GRCm39)	S244P	possibly damaging	Het
Slc9a3	A	T	13: 74,299,004 (GRCm39)	Y141F	probably damaging	Het
Slco6c1	A	T	1: 97,009,207 (GRCm39)	H426Q	probably benign	Het
Smc2	C	A	4: 52,440,301 (GRCm39)	Q16K	probably benign	Het
Sphkap	A	C	1: 83,241,547 (GRCm39)	V1535G	probably benign	Het
Stard9	C	A	2: 120,532,633 (GRCm39)	N2963K	probably benign	Het
Sycp2	C	T	2: 178,035,944 (GRCm39)	A248T	probably damaging	Het
Taar8a	T	C	10: 23,952,762 (GRCm39)	L122P	probably damaging	Het
Tab1	T	A	15: 80,044,445 (GRCm39)	V491E	probably benign	Het
Tanc1	T	C	2: 59,636,688 (GRCm39)	M857T	probably benign	Het
Tcirg1	C	A	19: 3,949,008 (GRCm39)	R427L	possibly damaging	Het
Tmem109	A	C	19: 10,849,124 (GRCm39)	*244G	probably null	Het
Tox2	A	G	2: 163,163,435 (GRCm39)	Y136C		Het
Tubb1	T	C	2: 174,298,825 (GRCm39)	V169A	possibly damaging	Het
Ubr3	T	C	2: 69,783,886 (GRCm39)		probably null	Het
Vmn1r225	T	A	17: 20,723,059 (GRCm39)	F167I	probably benign	Het
Vmn2r65	A	C	7: 84,595,569 (GRCm39)	W372G	probably damaging	Het
Vps13a	A	T	19: 16,727,537 (GRCm39)	D188E	probably damaging	Het
Vsnl1	G	T	12: 11,376,439 (GRCm39)	Q149K	probably benign	Het
Wdr35	A	G	12: 9,054,105 (GRCm39)	N466S	probably benign	Het
Ywhae	T	A	11: 75,650,169 (GRCm39)	S210R	probably damaging	Het
Zfp28	T	A	7: 6,397,748 (GRCm39)	S728T	probably damaging	Het
Zfpm1	A	G	8: 123,063,698 (GRCm39)	D919G	unknown	Het

Other mutations in Senp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Senp6	APN	9	80,023,892 (GRCm39)	missense	probably damaging	1.00
IGL00487:Senp6	APN	9	80,021,120 (GRCm39)	missense	probably damaging	1.00
IGL01285:Senp6	APN	9	80,044,000 (GRCm39)	missense	probably benign	0.05
IGL01337:Senp6	APN	9	80,043,792 (GRCm39)	missense	probably damaging	0.97
IGL01563:Senp6	APN	9	80,029,290 (GRCm39)	missense	probably benign
IGL01633:Senp6	APN	9	79,999,676 (GRCm39)	missense	probably damaging	1.00
IGL02115:Senp6	APN	9	80,029,208 (GRCm39)	missense	probably damaging	1.00
IGL02208:Senp6	APN	9	80,021,225 (GRCm39)	missense	probably damaging	1.00
IGL02378:Senp6	APN	9	80,033,674 (GRCm39)	missense	probably damaging	1.00
A4554:Senp6	UTSW	9	80,055,740 (GRCm39)	unclassified	probably benign
R0031:Senp6	UTSW	9	80,033,525 (GRCm39)	missense	probably damaging	1.00
R0121:Senp6	UTSW	9	80,023,952 (GRCm39)	missense	probably benign	0.01
R0276:Senp6	UTSW	9	80,044,029 (GRCm39)	missense	probably benign
R0294:Senp6	UTSW	9	80,021,007 (GRCm39)	splice site	probably null
R0308:Senp6	UTSW	9	80,040,265 (GRCm39)	critical splice donor site	probably null
R0531:Senp6	UTSW	9	80,031,166 (GRCm39)	missense	probably damaging	0.99
R0743:Senp6	UTSW	9	80,000,871 (GRCm39)	missense	probably damaging	1.00
R0883:Senp6	UTSW	9	80,023,841 (GRCm39)	missense	probably damaging	1.00
R1071:Senp6	UTSW	9	80,044,011 (GRCm39)	missense	probably benign	0.35
R1171:Senp6	UTSW	9	80,024,007 (GRCm39)	missense	possibly damaging	0.89
R1340:Senp6	UTSW	9	80,029,305 (GRCm39)	missense	possibly damaging	0.47
R1571:Senp6	UTSW	9	80,000,853 (GRCm39)	missense	probably damaging	1.00
R1760:Senp6	UTSW	9	80,025,911 (GRCm39)	missense	probably benign	0.36
R1909:Senp6	UTSW	9	80,021,056 (GRCm39)	missense	possibly damaging	0.67
R2008:Senp6	UTSW	9	80,033,680 (GRCm39)	missense	probably damaging	1.00
R2067:Senp6	UTSW	9	79,997,151 (GRCm39)	missense	probably benign	0.11
R2077:Senp6	UTSW	9	80,033,437 (GRCm39)	missense	probably benign	0.14
R2141:Senp6	UTSW	9	80,031,102 (GRCm39)	missense	probably damaging	1.00
R2321:Senp6	UTSW	9	80,031,022 (GRCm39)	missense	possibly damaging	0.83
R2760:Senp6	UTSW	9	80,029,260 (GRCm39)	missense	probably null
R2939:Senp6	UTSW	9	80,051,124 (GRCm39)	missense	probably benign	0.00
R2940:Senp6	UTSW	9	80,051,124 (GRCm39)	missense	probably benign	0.00
R3081:Senp6	UTSW	9	80,051,124 (GRCm39)	missense	probably benign	0.00
R3784:Senp6	UTSW	9	79,999,568 (GRCm39)	missense	probably benign	0.16
R3785:Senp6	UTSW	9	79,999,568 (GRCm39)	missense	probably benign	0.16
R3800:Senp6	UTSW	9	79,994,735 (GRCm39)	missense	possibly damaging	0.89
R3857:Senp6	UTSW	9	79,999,603 (GRCm39)	missense	possibly damaging	0.85
R4790:Senp6	UTSW	9	79,997,140 (GRCm39)	missense	probably benign	0.20
R5117:Senp6	UTSW	9	80,038,028 (GRCm39)	missense	probably damaging	1.00
R5418:Senp6	UTSW	9	80,029,151 (GRCm39)	missense	possibly damaging	0.89
R5477:Senp6	UTSW	9	80,051,125 (GRCm39)	missense	probably damaging	1.00
R5582:Senp6	UTSW	9	79,997,158 (GRCm39)	missense	possibly damaging	0.91
R5717:Senp6	UTSW	9	79,999,594 (GRCm39)	missense	probably damaging	0.99
R5800:Senp6	UTSW	9	80,033,715 (GRCm39)	missense	probably damaging	1.00
R5802:Senp6	UTSW	9	80,025,926 (GRCm39)	unclassified	probably benign
R5899:Senp6	UTSW	9	80,049,352 (GRCm39)	splice site	probably benign
R5918:Senp6	UTSW	9	80,021,398 (GRCm39)	critical splice donor site	probably null
R5958:Senp6	UTSW	9	80,049,576 (GRCm39)	missense	probably damaging	1.00
R6360:Senp6	UTSW	9	80,021,088 (GRCm39)	missense	probably benign
R6477:Senp6	UTSW	9	80,000,907 (GRCm39)	nonsense	probably null
R6628:Senp6	UTSW	9	80,040,236 (GRCm39)	missense	probably damaging	1.00
R6703:Senp6	UTSW	9	80,029,203 (GRCm39)	missense	probably damaging	1.00
R7236:Senp6	UTSW	9	80,040,247 (GRCm39)	missense	probably damaging	1.00
R7268:Senp6	UTSW	9	80,049,406 (GRCm39)	missense	probably damaging	1.00
R7290:Senp6	UTSW	9	80,043,797 (GRCm39)	missense	probably benign	0.25
R7319:Senp6	UTSW	9	80,033,481 (GRCm39)	missense	probably damaging	1.00
R7474:Senp6	UTSW	9	80,049,610 (GRCm39)	missense	probably damaging	1.00
R7480:Senp6	UTSW	9	80,029,199 (GRCm39)	missense	probably damaging	1.00
R7491:Senp6	UTSW	9	80,031,010 (GRCm39)	nonsense	probably null
R8428:Senp6	UTSW	9	80,025,794 (GRCm39)	missense	probably damaging	1.00
R8920:Senp6	UTSW	9	79,999,561 (GRCm39)	missense	probably benign	0.06
R9158:Senp6	UTSW	9	79,994,732 (GRCm39)	missense	probably benign	0.03
R9300:Senp6	UTSW	9	80,049,433 (GRCm39)	missense	probably damaging	1.00
R9347:Senp6	UTSW	9	80,046,379 (GRCm39)	missense	possibly damaging	0.89
R9387:Senp6	UTSW	9	79,999,646 (GRCm39)	missense	probably damaging	1.00
R9521:Senp6	UTSW	9	79,974,687 (GRCm39)	start gained	probably benign
R9652:Senp6	UTSW	9	80,021,228 (GRCm39)	missense	probably damaging	1.00
R9794:Senp6	UTSW	9	79,999,590 (GRCm39)	missense	probably benign	0.04
Z1176:Senp6	UTSW	9	80,049,548 (GRCm39)	missense	probably benign	0.02
Z1177:Senp6	UTSW	9	80,010,975 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- CTGGGCCAGATAATTGAGTGTC -3'
(R):5'- TTCCTCCAGGTAAAATGACTTTCC -3'

Sequencing Primer
(F):5'- GCTGGTCTTGAACTCACAGAGATC -3'
(R):5'- CCAGGTAAAATGACTTTCCCATTTG -3'

Posted On

2019-10-07