Incidental Mutation 'R2141:Senp6'
ID 236263
Institutional Source Beutler Lab
Gene Symbol Senp6
Ensembl Gene ENSMUSG00000034252
Gene Name SUMO/sentrin specific peptidase 6
Synonyms 2810017C20Rik, E130319N12Rik
MMRRC Submission 040144-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2141 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 79974185-80052235 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 80031102 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 8 (N8K)
Ref Sequence ENSEMBL: ENSMUSP00000135719 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037484] [ENSMUST00000164859] [ENSMUST00000165607] [ENSMUST00000175999] [ENSMUST00000176360] [ENSMUST00000176527]
AlphaFold Q6P7W0
Predicted Effect probably damaging
Transcript: ENSMUST00000037484
AA Change: N594K

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000047220
Gene: ENSMUSG00000034252
AA Change: N594K

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 damaging
Transcript: ENSMUST00000164859
AA Change: N428K

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000128918
Gene: ENSMUSG00000034252
AA Change: N428K

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 noncoding transcript
Transcript: ENSMUST00000165458
Predicted Effect probably damaging
Transcript: ENSMUST00000165607
AA Change: N601K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000126777
Gene: ENSMUSG00000034252
AA Change: N601K

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: ENSMUST00000175910
Predicted Effect probably benign
Transcript: ENSMUST00000175999
Predicted Effect probably benign
Transcript: ENSMUST00000176360
Predicted Effect probably damaging
Transcript: ENSMUST00000176527
AA Change: N8K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135719
Gene: ENSMUSG00000034252
AA Change: N8K

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 0.1794 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 97% (107/110)
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: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810065E05Rik G T 11: 58,314,752 (GRCm39) C150F probably damaging Het
Aagab T A 9: 63,523,957 (GRCm39) probably null Het
Abca15 A C 7: 120,006,697 (GRCm39) T1654P probably damaging Het
Abca17 T A 17: 24,553,240 (GRCm39) Y157F probably benign Het
Aftph A T 11: 20,648,318 (GRCm39) L813* probably null Het
Agap1 T C 1: 89,765,477 (GRCm39) I615T probably damaging Het
Ak3 T G 19: 29,000,247 (GRCm39) Q221H probably benign Het
Aldoa A G 7: 126,396,814 (GRCm39) probably null Het
Anxa8 T C 14: 33,813,873 (GRCm39) probably null Het
Atpsckmt T C 15: 31,609,718 (GRCm39) F146L probably benign Het
Baz2a A G 10: 127,959,481 (GRCm39) D1329G probably damaging Het
Calhm6 G T 10: 34,003,691 (GRCm39) A72E probably damaging Het
Capn9 G A 8: 125,332,450 (GRCm39) G430R possibly damaging Het
Cd55 C T 1: 130,377,160 (GRCm39) V333I probably benign Het
Cep70 A G 9: 99,178,438 (GRCm39) Y512C probably damaging Het
Cfhr2 T G 1: 139,758,893 (GRCm39) R52S probably benign Het
Clcn6 A G 4: 148,108,594 (GRCm39) F145S possibly damaging Het
Cnksr1 A G 4: 133,956,939 (GRCm39) Y488H probably damaging Het
Diablo A G 5: 123,661,424 (GRCm39) V24A probably benign Het
Dnah7b T A 1: 46,307,830 (GRCm39) M3048K probably damaging Het
Dsel T C 1: 111,787,187 (GRCm39) N1116S probably benign Het
Efnb1 A G X: 98,191,123 (GRCm39) Y343C probably damaging Het
Esco1 A G 18: 10,574,873 (GRCm39) probably null Het
Fancd2 A G 6: 113,526,282 (GRCm39) N335S probably benign Het
Flnc A G 6: 29,448,674 (GRCm39) Y1304C probably damaging Het
Fubp3 A G 2: 31,490,569 (GRCm39) probably benign Het
Gemin4 G C 11: 76,101,876 (GRCm39) P962A probably damaging Het
Gjc3 A C 5: 137,955,808 (GRCm39) L159R probably damaging Het
Gli1 A G 10: 127,172,596 (GRCm39) L182P probably damaging Het
Gm21957 G T 7: 124,818,625 (GRCm39) noncoding transcript Het
Gm28040 AGTG AGTGGCACCTTTGGTG 1: 133,255,059 (GRCm39) probably benign Het
Gm5885 A G 6: 133,506,238 (GRCm39) noncoding transcript Het
Gon4l A T 3: 88,794,902 (GRCm39) T402S possibly damaging Het
Gprasp1 G A X: 134,702,791 (GRCm39) E995K possibly damaging Het
Gvin-ps5 T A 7: 105,929,163 (GRCm39) T245S probably damaging Het
Helb A T 10: 119,941,926 (GRCm39) M254K possibly damaging Het
Ift20 G A 11: 78,430,860 (GRCm39) E68K probably damaging Het
Igfn1 AGGG AGG 1: 135,902,590 (GRCm39) probably benign Het
Impdh2 A G 9: 108,442,546 (GRCm39) E305G possibly damaging Het
Ints7 T A 1: 191,336,972 (GRCm39) C351S possibly damaging Het
Ipo9 ATCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTCCTC 1: 135,314,006 (GRCm39) probably benign Het
Ipo9 A G 1: 135,329,988 (GRCm39) V484A probably benign Het
Kcnq3 T C 15: 65,867,700 (GRCm39) M648V probably benign Het
Kctd16 A G 18: 40,392,231 (GRCm39) E273G possibly damaging Het
Kif18a T A 2: 109,163,848 (GRCm39) N732K probably benign Het
Kif21b C T 1: 136,080,002 (GRCm39) R513W probably damaging Het
Klhl36 T C 8: 120,603,511 (GRCm39) C589R possibly damaging Het
Lck A G 4: 129,442,713 (GRCm39) Y481H probably damaging Het
Lmtk2 A G 5: 144,084,433 (GRCm39) Y156C probably damaging Het
Mical3 A T 6: 121,008,095 (GRCm39) probably null Het
Mki67 A G 7: 135,297,321 (GRCm39) I2571T possibly damaging Het
Mx2 G A 16: 97,339,903 (GRCm39) E20K probably benign Het
Myo10 A G 15: 25,714,194 (GRCm39) E87G probably benign Het
Myo18b T C 5: 113,021,892 (GRCm39) K500R probably benign Het
N4bp2l2 A T 5: 150,571,001 (GRCm39) I458N probably damaging Het
Nat10 T C 2: 103,561,648 (GRCm39) probably null Het
Nfasc G A 1: 132,524,383 (GRCm39) P932L probably damaging Het
Nipa1 C A 7: 55,647,259 (GRCm39) probably null Het
Nkpd1 A G 7: 19,258,162 (GRCm39) Q647R probably damaging Het
Nlrc4 T A 17: 74,754,946 (GRCm39) probably benign Het
Nmbr C A 10: 14,646,186 (GRCm39) Y353* probably null Het
Nos1ap T A 1: 170,156,735 (GRCm39) D241V probably damaging Het
Obsl1 G A 1: 75,486,756 (GRCm38) T1764M probably benign Het
Optc A T 1: 133,831,534 (GRCm39) probably null Het
Or4f4b A T 2: 111,313,975 (GRCm39) T95S probably benign Het
Or5d43 A G 2: 88,105,354 (GRCm39) V13A probably benign Het
Or5m13 A G 2: 85,749,171 (GRCm39) I301V probably null Het
Or6c201 A G 10: 128,968,875 (GRCm39) I254T probably benign Het
Pank1 G A 19: 34,856,380 (GRCm39) R33C possibly damaging Het
Pcmtd1 C T 1: 7,239,789 (GRCm39) R77C probably damaging Het
Phkg2 G A 7: 127,181,386 (GRCm39) probably null Het
Plcb4 G A 2: 135,818,019 (GRCm39) V762M probably damaging Het
Pramel7 T A 2: 87,320,321 (GRCm39) H324L probably damaging Het
Prelp C T 1: 133,842,869 (GRCm39) R92K probably benign Het
Ptgr3 T C 18: 84,112,668 (GRCm39) Y115H probably benign Het
Rai1 C A 11: 60,080,293 (GRCm39) S1452R possibly damaging Het
Ren1 C G 1: 133,278,516 (GRCm39) probably null Het
Rev3l T C 10: 39,724,045 (GRCm39) V785A probably benign Het
Ro60 T C 1: 143,635,772 (GRCm39) D458G probably benign Het
Rufy2 G T 10: 62,826,773 (GRCm39) R104L probably damaging Het
Septin4 A T 11: 87,474,262 (GRCm39) Q60L probably benign Het
Sipa1l2 G A 8: 126,218,230 (GRCm39) P369L probably benign Het
Slc43a1 T C 2: 84,671,305 (GRCm39) L37P probably damaging Het
Slf1 T A 13: 77,197,338 (GRCm39) probably null Het
Ssr2 T A 3: 88,483,949 (GRCm39) probably benign Het
Syt2 ACTCTCTCT ACTCTCTCTCT 1: 134,674,479 (GRCm39) probably benign Het
Tas2r115 T C 6: 132,714,321 (GRCm39) K210R probably benign Het
Tbx18 A G 9: 87,597,706 (GRCm39) V276A probably damaging Het
Tesl1 T A X: 23,773,549 (GRCm39) V350E probably benign Het
Tie1 G A 4: 118,330,008 (GRCm39) R1072* probably null Het
Tm2d2 C A 8: 25,512,674 (GRCm39) T174K probably damaging Het
Tmem98 A G 11: 80,705,158 (GRCm39) D82G possibly damaging Het
Tmub2 A G 11: 102,178,379 (GRCm39) E94G possibly damaging Het
Tnnt2 TG TGG 1: 135,774,499 (GRCm39) probably benign Het
Tonsl A T 15: 76,516,861 (GRCm39) I923N probably damaging Het
Ttc21a G A 9: 119,793,361 (GRCm39) V977M probably damaging Het
Ube2ql1 T C 13: 69,886,783 (GRCm39) D226G probably damaging Het
Ubr4 C T 4: 139,204,518 (GRCm39) T4810M probably damaging Het
Wdr87-ps T C 7: 29,230,935 (GRCm39) noncoding transcript Het
Zfp408 A G 2: 91,478,194 (GRCm39) probably benign Het
Zfp473 T C 7: 44,382,501 (GRCm39) T610A possibly damaging Het
Zfp804b A G 5: 6,822,583 (GRCm39) V160A probably benign Het
Zfp960 A G 17: 17,308,146 (GRCm39) T287A 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
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'- TGCATACACAGATATGGACTCC -3'
(R):5'- CCAGCTAACAGGGTTTTGATCCC -3'

Sequencing Primer
(F):5'- CAGTATTCATCGTGTAGCCCAGG -3'
(R):5'- AACAAACAACTATTACCCAACTTTTG -3'
Posted On 2014-10-01