Incidental Mutation 'R7491:Senp6'
ID 580771
Institutional Source Beutler Lab
Gene Symbol Senp6
Ensembl Gene ENSMUSG00000034252
Gene Name SUMO/sentrin specific peptidase 6
Synonyms 2810017C20Rik, E130319N12Rik
MMRRC Submission 045565-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7491 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 79974185-80052235 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 80031010 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 571 (E571*)
Ref Sequence ENSEMBL: ENSMUSP00000126777 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037484] [ENSMUST00000164859] [ENSMUST00000165607] [ENSMUST00000175999] [ENSMUST00000176360] [ENSMUST00000176527]
AlphaFold Q6P7W0
Predicted Effect probably null
Transcript: ENSMUST00000037484
AA Change: E564*
SMART Domains Protein: ENSMUSP00000047220
Gene: ENSMUSG00000034252
AA Change: E564*

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
AA Change: E398*
SMART Domains Protein: ENSMUSP00000128918
Gene: ENSMUSG00000034252
AA Change: E398*

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: E571*
SMART Domains Protein: ENSMUSP00000126777
Gene: ENSMUSG00000034252
AA Change: E571*

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 probably benign
Transcript: ENSMUST00000175999
Predicted Effect probably benign
Transcript: ENSMUST00000176360
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 probably benign
Transcript: ENSMUST00000176648
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik G T 2: 68,445,099 (GRCm39) probably null Het
5730522E02Rik A T 11: 25,719,014 (GRCm39) V44E unknown Het
Adcy9 A G 16: 4,236,673 (GRCm39) L246S possibly damaging Het
Adk C T 14: 21,284,997 (GRCm39) H123Y probably damaging Het
Adra1b T A 11: 43,726,794 (GRCm39) D41V probably benign Het
Ankib1 T G 5: 3,751,911 (GRCm39) K710Q probably damaging Het
Aoc2 T A 11: 101,219,203 (GRCm39) V542D probably benign Het
Arhgef28 T C 13: 98,081,194 (GRCm39) N1221S probably benign Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
BC028528 CACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT CACTGGTTCTGTGGTTACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT 3: 95,795,450 (GRCm39) probably benign Het
Bmal1 T C 7: 112,898,631 (GRCm39) V353A probably benign Het
Cacna1a C A 8: 85,285,922 (GRCm39) R856S possibly damaging Het
Cacna1c T C 6: 118,590,304 (GRCm39) M1559V Het
Cdh10 G C 15: 19,013,445 (GRCm39) E682Q probably damaging Het
Celsr1 T C 15: 85,916,719 (GRCm39) D418G possibly damaging Het
Cfap44 T C 16: 44,291,111 (GRCm39) L1537P probably damaging Het
Clca3a2 A G 3: 144,519,340 (GRCm39) S279P probably damaging Het
Col2a1 C T 15: 97,874,040 (GRCm39) V1449I not run Het
Cpt2 A G 4: 107,764,339 (GRCm39) F475S probably damaging Het
Cpxm1 T C 2: 130,235,487 (GRCm39) T502A probably benign Het
Creb3l2 G T 6: 37,356,794 (GRCm39) T91N probably benign Het
D630045J12Rik A T 6: 38,119,601 (GRCm39) S1714T possibly damaging Het
Dennd1c C A 17: 57,379,379 (GRCm39) V246F probably damaging Het
Dse A G 10: 34,028,561 (GRCm39) V843A probably benign Het
Ern2 C A 7: 121,769,756 (GRCm39) W810L probably damaging Het
Fer1l6 G A 15: 58,472,281 (GRCm39) D906N probably damaging Het
Fry A G 5: 150,389,791 (GRCm39) E140G Het
Galnt7 A G 8: 58,005,552 (GRCm39) V227A probably damaging Het
Gas2l3 A G 10: 89,249,763 (GRCm39) S452P probably benign Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Gm826 A T 2: 160,153,942 (GRCm39) S34T unknown Het
Gzmk A T 13: 113,308,535 (GRCm39) I222N probably benign Het
Hivep3 A T 4: 119,956,027 (GRCm39) T1448S probably benign Het
Hk1 T C 10: 62,131,524 (GRCm39) D278G probably damaging Het
Ipo7 C A 7: 109,638,401 (GRCm39) Q223K possibly damaging Het
Itga9 T A 9: 118,598,179 (GRCm39) I571N probably damaging Het
Itgb6 T C 2: 60,450,720 (GRCm39) Y573C probably damaging Het
Kmt2c T A 5: 25,489,562 (GRCm39) H4459L probably damaging Het
Limch1 T G 5: 67,211,580 (GRCm39) S894R probably damaging Het
Lrit2 A T 14: 36,790,867 (GRCm39) Q182L possibly damaging Het
Mlph A T 1: 90,867,100 (GRCm39) H374L possibly damaging Het
Mmrn2 A G 14: 34,121,374 (GRCm39) H748R probably damaging Het
Mrpl58 T C 11: 115,301,092 (GRCm39) V134A possibly damaging Het
Nae1 A T 8: 105,244,871 (GRCm39) D353E probably benign Het
Naip5 A C 13: 100,353,579 (GRCm39) F1227V probably benign Het
Nln A T 13: 104,205,831 (GRCm39) F108I probably damaging Het
Nop16 C T 13: 54,736,417 (GRCm39) V94I probably benign Het
Nt5c1b A T 12: 10,424,903 (GRCm39) T150S probably benign Het
Or10d4b T G 9: 39,535,268 (GRCm39) I281S possibly damaging Het
Pcdha4 T C 18: 37,087,689 (GRCm39) V624A probably damaging Het
Pcdhga8 T C 18: 37,860,483 (GRCm39) I513T probably benign Het
Prc1 A T 7: 79,959,239 (GRCm39) probably null Het
Prpf4 T A 4: 62,336,113 (GRCm39) F280Y probably damaging Het
Ptprd T C 4: 76,051,392 (GRCm39) E43G probably benign Het
Pum1 T A 4: 130,446,485 (GRCm39) D181E probably benign Het
Rab7 A G 6: 87,990,624 (GRCm39) S17P probably damaging Het
Rgs1 T C 1: 144,121,134 (GRCm39) Y179C probably damaging Het
Rrm1 T C 7: 102,103,764 (GRCm39) C238R probably damaging Het
Rusc2 T A 4: 43,426,528 (GRCm39) L1484Q probably damaging Het
Sall3 C T 18: 81,015,920 (GRCm39) M669I probably benign Het
Saxo1 A C 4: 86,363,644 (GRCm39) F280V probably benign Het
Scn2a T C 2: 65,532,352 (GRCm39) S655P probably damaging Het
Sin3b C G 8: 73,473,069 (GRCm39) T463S probably damaging Het
Sirt7 C A 11: 120,509,837 (GRCm39) R349L probably benign Het
Skor1 T C 9: 63,053,730 (GRCm39) T80A probably damaging Het
Slc12a9 C A 5: 137,321,082 (GRCm39) A478S probably damaging Het
Slc25a23 T A 17: 57,359,822 (GRCm39) R310* probably null Het
Slco6c1 A T 1: 97,055,579 (GRCm39) H107Q probably benign Het
Slit2 A G 5: 48,377,336 (GRCm39) E455G probably benign Het
Smo G C 6: 29,736,119 (GRCm39) G37A probably damaging Het
St6galnac1 T C 11: 116,660,010 (GRCm39) K101R probably benign Het
Stat1 C A 1: 52,191,530 (GRCm39) N628K probably benign Het
Syn2 A T 6: 115,231,615 (GRCm39) Y302F probably benign Het
Tapt1 T G 5: 44,345,978 (GRCm39) Q324P probably damaging Het
Tgoln1 C T 6: 72,593,403 (GRCm39) A26T unknown Het
Timm13 T A 10: 80,736,378 (GRCm39) T43S probably benign Het
Tnfrsf19 G A 14: 61,242,654 (GRCm39) P77S possibly damaging Het
Trem3 T G 17: 48,564,969 (GRCm39) F157V probably benign Het
Trgv3 T A 13: 19,427,016 (GRCm39) M1K probably null Het
Trim33 T A 3: 103,233,464 (GRCm39) S420T probably benign Het
Trip11 T C 12: 101,851,694 (GRCm39) K790R probably damaging Het
Trnt1 A G 6: 106,755,865 (GRCm39) T307A probably benign Het
Tshz1 T C 18: 84,033,766 (GRCm39) Y214C probably damaging Het
Vmn2r105 T A 17: 20,448,827 (GRCm39) T117S probably benign Het
Vmn2r45 A G 7: 8,484,342 (GRCm39) Y488H probably benign Het
Vwa8 A T 14: 79,320,254 (GRCm39) K1088N probably benign Het
Wdr35 T C 12: 9,036,000 (GRCm39) V257A probably benign Het
Zfp189 T A 4: 49,521,569 (GRCm39) S3T probably benign Het
Zscan22 G A 7: 12,640,833 (GRCm39) C359Y probably damaging Het
Zscan4-ps2 A T 7: 11,251,812 (GRCm39) R283* probably null 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
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
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'- TGCATACACAGATATGGACTCCAG -3'
(R):5'- CATAGCTTCTTGTACAGGCAAC -3'

Sequencing Primer
(F):5'- GCAGACGCTTTACCGAGAGAATTATC -3'
(R):5'- GCAACAAGTCTGCTATTGGC -3'
Posted On 2019-10-17