Incidental Mutation 'R6477:Senp6'
ID 516851
Institutional Source Beutler Lab
Gene Symbol Senp6
Ensembl Gene ENSMUSG00000034252
Gene Name SUMO/sentrin specific peptidase 6
Synonyms 2810017C20Rik, E130319N12Rik
MMRRC Submission 044609-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6477 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 79974185-80052235 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 80000907 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 39 (R39*)
Ref Sequence ENSEMBL: ENSMUSP00000135494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037484] [ENSMUST00000164859] [ENSMUST00000165607] [ENSMUST00000175999] [ENSMUST00000176360] [ENSMUST00000176640]
AlphaFold Q6P7W0
Predicted Effect probably null
Transcript: ENSMUST00000037484
AA Change: R146*
SMART Domains Protein: ENSMUSP00000047220
Gene: ENSMUSG00000034252
AA Change: R146*

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000164859
SMART Domains Protein: ENSMUSP00000128918
Gene: ENSMUSG00000034252

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000165607
AA Change: R146*
SMART Domains Protein: ENSMUSP00000126777
Gene: ENSMUSG00000034252
AA Change: R146*

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000175673
Predicted Effect probably benign
Transcript: ENSMUST00000175999
Predicted Effect probably null
Transcript: ENSMUST00000176360
AA Change: R67*
Predicted Effect probably null
Transcript: ENSMUST00000176640
AA Change: R39*
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.1%
Validation Efficiency 97% (60/62)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T C 11: 119,909,696 (GRCm39) D23G probably benign Het
Abca14 T C 7: 119,924,325 (GRCm39) I1659T probably benign Het
Ankdd1a C T 9: 65,409,494 (GRCm39) V481M probably benign Het
Ankfy1 G A 11: 72,621,308 (GRCm39) R198Q possibly damaging Het
Cfap161 T A 7: 83,443,230 (GRCm39) R20* probably null Het
Cops7a A T 6: 124,937,139 (GRCm39) V184E probably damaging Het
Cpa3 T C 3: 20,293,739 (GRCm39) E83G possibly damaging Het
Crls1 C T 2: 132,703,153 (GRCm39) S201L probably benign Het
Cyp4f39 C A 17: 32,700,791 (GRCm39) S153R probably damaging Het
Ddx54 T A 5: 120,759,843 (GRCm39) I410N probably damaging Het
Dido1 T A 2: 180,302,274 (GRCm39) T1877S probably benign Het
Dip2c A G 13: 9,673,796 (GRCm39) S1079G probably damaging Het
Dnhd1 G A 7: 105,327,093 (GRCm39) V681I probably benign Het
Dst A G 1: 34,247,809 (GRCm39) probably null Het
Eya2 A G 2: 165,605,681 (GRCm39) T362A probably benign Het
Garre1 A G 7: 33,957,055 (GRCm39) probably null Het
Hgs G A 11: 120,360,481 (GRCm39) V60M probably damaging Het
Inpp4b A G 8: 82,571,343 (GRCm39) probably null Het
Iqub T A 6: 24,449,744 (GRCm39) N707I probably damaging Het
Kdr C A 5: 76,129,501 (GRCm39) A129S probably benign Het
Lhcgr A T 17: 89,049,801 (GRCm39) M575K probably damaging Het
Lsamp G T 16: 41,988,528 (GRCm39) probably benign Het
Mcm5 T C 8: 75,839,230 (GRCm39) V161A probably benign Het
Mmp14 A T 14: 54,675,115 (GRCm39) H249L probably damaging Het
Mroh5 A G 15: 73,662,604 (GRCm39) S405P probably damaging Het
Mroh9 C A 1: 162,903,873 (GRCm39) L46F probably damaging Het
Mtrr A T 13: 68,718,192 (GRCm39) H357Q probably damaging Het
Myrf G A 19: 10,206,149 (GRCm39) P89L probably benign Het
Mzb1 C T 18: 35,781,311 (GRCm39) probably null Het
Naip6 A G 13: 100,452,516 (GRCm39) S182P probably damaging Het
Nmur2 A T 11: 55,920,417 (GRCm39) F276Y probably damaging Het
Nudt12 G T 17: 59,318,140 (GRCm39) S35Y probably benign Het
Or51h5 T A 7: 102,577,585 (GRCm39) V250E probably damaging Het
Or56b1 T C 7: 104,284,886 (GRCm39) S2P probably benign Het
Or9m1 A G 2: 87,733,334 (GRCm39) S229P probably damaging Het
Osbpl1a T C 18: 12,889,318 (GRCm39) I541V probably benign Het
Parp4 A G 14: 56,884,694 (GRCm39) K1258E probably benign Het
Plcxd2 C G 16: 45,801,022 (GRCm39) K67N probably damaging Het
Pnpla6 A G 8: 3,586,627 (GRCm39) T930A probably benign Het
Pomt1 G A 2: 32,138,728 (GRCm39) probably null Het
Ppp1r14bl A T 1: 23,140,861 (GRCm39) L151Q probably benign Het
Pramel6 A G 2: 87,340,946 (GRCm39) Y426C possibly damaging Het
Prss27 A G 17: 24,263,235 (GRCm39) T83A probably damaging Het
Rbm27 T A 18: 42,466,383 (GRCm39) V915E probably damaging Het
Rnf114 T A 2: 167,345,408 (GRCm39) D10E probably benign Het
Sbk1 A G 7: 125,890,350 (GRCm39) E121G probably damaging Het
Sergef A T 7: 46,283,250 (GRCm39) I94N probably benign Het
Slc30a9 C T 5: 67,485,867 (GRCm39) R183W probably benign Het
Smurf1 C T 5: 144,826,602 (GRCm39) R414H possibly damaging Het
Sptb A T 12: 76,653,166 (GRCm39) W1566R probably damaging Het
Tenm2 T C 11: 35,901,334 (GRCm39) probably null Het
Tnni1 T C 1: 135,733,304 (GRCm39) V42A probably benign Het
Tnxb A G 17: 34,938,513 (GRCm39) Y3098C probably damaging Het
Ubald2 T C 11: 116,325,400 (GRCm39) F46L probably benign Het
Ubqln5 G A 7: 103,777,465 (GRCm39) S453F probably damaging Het
Ubr3 A T 2: 69,809,773 (GRCm39) R1248* probably null Het
Utp20 A G 10: 88,604,780 (GRCm39) V1705A probably benign Het
Zfp60 G A 7: 27,449,228 (GRCm39) R632H probably benign Het
Zfp638 A G 6: 83,942,560 (GRCm39) Y957C probably damaging Het
Zfp825 A T 13: 74,629,029 (GRCm39) S162R possibly damaging Het
Zfp831 A C 2: 174,545,960 (GRCm39) K1355T probably benign Het
Other mutations in Senp6
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R7422:Senp6 UTSW 9 80,021,159 (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'- TACAATTTGGGTTTGCACTCGG -3'
(R):5'- GTTTTGCTCCTTAGGCCAAC -3'

Sequencing Primer
(F):5'- CACTCGGATTTTAGATGGTAATTTTG -3'
(R):5'- CAGTTCAATCCAGTACAGTAAGGTC -3'
Posted On 2018-05-21