Incidental Mutation 'R0308:Senp6'
ID 24978
Institutional Source Beutler Lab
Gene Symbol Senp6
Ensembl Gene ENSMUSG00000034252
Gene Name SUMO/sentrin specific peptidase 6
Synonyms 2810017C20Rik, E130319N12Rik
MMRRC Submission 038518-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0308 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 79974185-80052235 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 80040265 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000126777 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037484] [ENSMUST00000164859] [ENSMUST00000165607] [ENSMUST00000175999] [ENSMUST00000176527]
AlphaFold Q6P7W0
Predicted Effect probably null
Transcript: ENSMUST00000037484
SMART Domains Protein: ENSMUSP00000047220
Gene: ENSMUSG00000034252

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 null
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
SMART Domains Protein: ENSMUSP00000126777
Gene: ENSMUSG00000034252

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: ENSMUST00000175758
Predicted Effect probably benign
Transcript: ENSMUST00000175999
Predicted Effect probably benign
Transcript: ENSMUST00000176527
SMART Domains Protein: ENSMUSP00000135719
Gene: ENSMUSG00000034252

DomainStartEndE-ValueType
Pfam:Peptidase_C48 114 165 6.5e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176607
SMART Domains Protein: ENSMUSP00000135231
Gene: ENSMUSG00000034252

DomainStartEndE-ValueType
ZnF_C2HC 76 94 7.23e0 SMART
Pfam:Peptidase_C48 534 660 4.9e-23 PFAM
Pfam:Peptidase_C48 799 911 2.1e-14 PFAM
Meta Mutation Damage Score 0.9496 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 95.1%
  • 20x: 89.5%
Validation Efficiency 100% (82/82)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009N14Rik A T 4: 39,450,989 (GRCm39) D65V probably damaging Het
4933407L21Rik A T 1: 85,859,007 (GRCm39) probably benign Het
Abcc12 C T 8: 87,284,381 (GRCm39) probably benign Het
Adamts12 A G 15: 11,311,646 (GRCm39) E1301G probably damaging Het
Adh4 A T 3: 138,129,863 (GRCm39) N230Y probably damaging Het
Anapc15-ps T A 10: 95,508,954 (GRCm39) M109L probably benign Het
Angpt2 T C 8: 18,742,141 (GRCm39) I472V possibly damaging Het
Arhgef26 C A 3: 62,247,820 (GRCm39) D301E probably benign Het
Armc10 G A 5: 21,852,295 (GRCm39) probably benign Het
Atm T C 9: 53,365,773 (GRCm39) probably null Het
Atp5f1b T C 10: 127,921,908 (GRCm39) V265A probably benign Het
Atp8b1 G T 18: 64,678,315 (GRCm39) C860* probably null Het
Atrnl1 T G 19: 57,741,720 (GRCm39) S1160A probably benign Het
Bmal1 A T 7: 112,890,743 (GRCm39) I179F probably damaging Het
Cep55 A G 19: 38,048,659 (GRCm39) E105G possibly damaging Het
Cfap54 C A 10: 92,721,226 (GRCm39) D2502Y unknown Het
Cilp2 A G 8: 70,335,643 (GRCm39) S452P probably benign Het
Clptm1l A G 13: 73,759,786 (GRCm39) D282G possibly damaging Het
Csrp1 C A 1: 135,673,024 (GRCm39) T47N probably damaging Het
Cyp2c40 T A 19: 39,766,432 (GRCm39) I388F probably damaging Het
Dars1 C T 1: 128,291,996 (GRCm39) R494H probably damaging Het
Dna2 T C 10: 62,792,753 (GRCm39) V256A probably damaging Het
Dock7 T C 4: 98,873,051 (GRCm39) T1132A probably benign Het
Dpcd T G 19: 45,565,445 (GRCm39) F140V probably damaging Het
Elk3 A T 10: 93,101,067 (GRCm39) M228K probably benign Het
Erich6 A G 3: 58,543,525 (GRCm39) F182L probably damaging Het
Fhad1 A G 4: 141,712,904 (GRCm39) probably benign Het
Fryl A T 5: 73,198,947 (GRCm39) probably benign Het
Fzd9 A T 5: 135,278,260 (GRCm39) C542S probably damaging Het
Gba1 A G 3: 89,115,671 (GRCm39) T460A probably benign Het
Gli2 C T 1: 118,769,792 (GRCm39) A587T probably benign Het
Gm11011 C T 2: 169,424,614 (GRCm39) probably benign Het
Gmppb A G 9: 107,927,033 (GRCm39) E68G probably benign Het
Gpld1 A G 13: 25,146,818 (GRCm39) N260S possibly damaging Het
Hipk3 G A 2: 104,263,552 (GRCm39) S900L probably damaging Het
Idi2l T G 13: 8,990,877 (GRCm39) probably benign Het
Ints6l A T X: 55,526,715 (GRCm39) M215L possibly damaging Het
Irx6 T A 8: 93,403,659 (GRCm39) L128Q probably damaging Het
Itga10 T C 3: 96,558,780 (GRCm39) S373P probably damaging Het
Jak1 T C 4: 101,011,732 (GRCm39) probably null Het
Jak2 C T 19: 29,289,157 (GRCm39) T1103I probably benign Het
Katnal1 A T 5: 148,815,734 (GRCm39) V401D possibly damaging Het
Krbox5 A G 13: 67,991,232 (GRCm39) probably benign Het
Lrp2 T A 2: 69,313,326 (GRCm39) probably benign Het
Map3k13 A G 16: 21,710,738 (GRCm39) H7R probably benign Het
Mrgprx3-ps A G 7: 46,959,766 (GRCm39) V75A probably benign Het
Nol6 C T 4: 41,123,584 (GRCm39) A55T probably benign Het
Opa1 G A 16: 29,440,349 (GRCm39) R818Q probably damaging Het
Opn4 T C 14: 34,319,081 (GRCm39) Y168C possibly damaging Het
Or8b35 A G 9: 37,904,141 (GRCm39) I118V probably benign Het
Phf21a T C 2: 92,161,122 (GRCm39) V330A possibly damaging Het
Phykpl A G 11: 51,484,423 (GRCm39) probably benign Het
Plcb1 T G 2: 134,655,534 (GRCm39) V38G probably benign Het
Plxna4 T A 6: 32,214,703 (GRCm39) T593S probably benign Het
Poll A T 19: 45,544,404 (GRCm39) I339N probably damaging Het
Rev3l A G 10: 39,700,890 (GRCm39) I1796V probably benign Het
Rnf103 G A 6: 71,486,686 (GRCm39) R439H probably damaging Het
Rrn3 G A 16: 13,617,746 (GRCm39) probably benign Het
Sec14l4 G A 11: 3,991,726 (GRCm39) probably benign Het
Sec23a A C 12: 59,053,985 (GRCm39) Y4* probably null Het
Serpinb6b A T 13: 33,162,220 (GRCm39) N221Y probably benign Het
Slc6a2 A G 8: 93,687,988 (GRCm39) E38G possibly damaging Het
Smap1 A T 1: 23,888,423 (GRCm39) L196I probably damaging Het
Sorbs2 C T 8: 46,248,167 (GRCm39) Q473* probably null Het
Sphkap C A 1: 83,254,690 (GRCm39) V1020F probably damaging Het
Srfbp1 T C 18: 52,621,614 (GRCm39) V225A probably benign Het
Srprb G A 9: 103,079,204 (GRCm39) P728S possibly damaging Het
Tarm1 T C 7: 3,545,187 (GRCm39) probably benign Het
Tcp1 T A 17: 13,139,306 (GRCm39) I162N probably benign Het
Tmem237 C A 1: 59,146,676 (GRCm39) A292S probably damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Tnpo1 A G 13: 98,983,011 (GRCm39) F884L probably damaging Het
Trim7 A G 11: 48,740,328 (GRCm39) T142A probably damaging Het
Ttn T A 2: 76,616,024 (GRCm39) I14894F probably damaging Het
Tubgcp6 T C 15: 89,006,639 (GRCm39) R128G possibly damaging Het
Ube2d2b A G 5: 107,978,774 (GRCm39) T142A possibly damaging Het
Unc13c G T 9: 73,388,400 (GRCm39) L2129I probably benign Het
Ushbp1 T C 8: 71,843,697 (GRCm39) D247G probably damaging Het
Usp43 G A 11: 67,770,966 (GRCm39) A556V probably damaging Het
Zfp438 T A 18: 5,213,638 (GRCm39) H440L probably benign Het
Zfp518b C T 5: 38,830,113 (GRCm39) E631K possibly damaging 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
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
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'- AGGTGAAACTGTGTGAGGTGTTACAGC -3'
(R):5'- TACGTCAACACTGGCAGAGTCACTGG -3'

Sequencing Primer
(F):5'- AGCTGACTCCTCTAATTATAAGTCAC -3'
(R):5'- GACTGCTTCCAATAGCATGGC -3'
Posted On 2013-04-16