Incidental Mutation 'R2939:Senp6'
ID 264589
Institutional Source Beutler Lab
Gene Symbol Senp6
Ensembl Gene ENSMUSG00000034252
Gene Name SUMO/sentrin specific peptidase 6
Synonyms 2810017C20Rik, E130319N12Rik
MMRRC Submission 040516-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2939 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 79974185-80052235 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 80051124 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 1134 (A1134T)
Ref Sequence ENSEMBL: ENSMUSP00000126777 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037484] [ENSMUST00000164859] [ENSMUST00000165607] [ENSMUST00000175999]
AlphaFold Q6P7W0
Predicted Effect probably benign
Transcript: ENSMUST00000037484
AA Change: A1127T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000047220
Gene: ENSMUSG00000034252
AA Change: A1127T

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
AA Change: A961T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000128918
Gene: ENSMUSG00000034252
AA Change: A961T

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 benign
Transcript: ENSMUST00000165607
AA Change: A1134T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000126777
Gene: ENSMUSG00000034252
AA Change: A1134T

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: ENSMUST00000175722
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175758
Predicted Effect probably benign
Transcript: ENSMUST00000175999
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176563
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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.6%
Validation Efficiency 98% (62/63)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl11 T C 9: 107,808,409 (GRCm39) Y911H possibly damaging Het
Arhgef26 A C 3: 62,288,331 (GRCm39) K467T possibly damaging Het
Armcx6 A T X: 133,650,625 (GRCm39) W69R probably damaging Het
Asl T C 5: 130,042,245 (GRCm39) Y277C probably damaging Het
Atm T C 9: 53,406,011 (GRCm39) Y1219C probably damaging Het
Azin2 C T 4: 128,828,397 (GRCm39) C270Y probably benign Het
Brsk1 A T 7: 4,711,139 (GRCm39) I545F possibly damaging Het
Carm1 C A 9: 21,490,692 (GRCm39) probably null Het
Cfap410 A G 10: 77,817,507 (GRCm39) N78S probably benign Het
Cfap69 G A 5: 5,694,432 (GRCm39) A143V probably damaging Het
Cldn14 T C 16: 93,716,192 (GRCm39) K218R probably damaging Het
Col5a3 T C 9: 20,706,954 (GRCm39) K714R unknown Het
Crybg2 A G 4: 133,809,745 (GRCm39) H1517R possibly damaging Het
Dagla A C 19: 10,233,728 (GRCm39) F382C probably damaging Het
Dixdc1 G A 9: 50,622,259 (GRCm39) A25V probably damaging Het
Dock6 A G 9: 21,750,496 (GRCm39) F473L possibly damaging Het
Eif5 T C 12: 111,506,713 (GRCm39) C102R probably damaging Het
Faiml A G 9: 99,114,527 (GRCm39) C121R probably damaging Het
Fhdc1 A G 3: 84,364,577 (GRCm39) V223A possibly damaging Het
Garin4 T C 1: 190,896,103 (GRCm39) D180G possibly damaging Het
Gpatch8 A G 11: 102,399,010 (GRCm39) V74A unknown Het
Haghl A G 17: 26,004,060 (GRCm39) V8A possibly damaging Het
Ksr1 A G 11: 78,936,007 (GRCm39) probably null Het
Lama5 A C 2: 179,840,747 (GRCm39) Y584D probably damaging Het
Lgi4 C T 7: 30,767,253 (GRCm39) R427* probably null Het
Lrriq1 T A 10: 102,980,750 (GRCm39) S1462C probably damaging Het
Map3k4 C T 17: 12,480,157 (GRCm39) E682K probably damaging Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Nherf1 C T 11: 115,071,270 (GRCm39) R335C probably damaging Het
Nmnat2 C A 1: 152,950,474 (GRCm39) S53Y probably damaging Het
Or8b12i C A 9: 20,082,061 (GRCm39) G269W probably benign Het
Or8g34 G A 9: 39,373,226 (GRCm39) M166I probably benign Het
Pcsk7 C T 9: 45,827,322 (GRCm39) A363V probably damaging Het
Pdrg1 C T 2: 152,854,355 (GRCm39) G62R probably damaging Het
Pdzd7 A G 19: 45,033,862 (GRCm39) I74T possibly damaging Het
Plcb4 T C 2: 135,781,123 (GRCm39) probably benign Het
Pramel28 A G 4: 143,693,247 (GRCm39) V77A probably benign Het
Rnf25 A G 1: 74,635,047 (GRCm39) V135A possibly damaging Het
Rph3a A G 5: 121,118,212 (GRCm39) probably benign Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Slc1a6 G T 10: 78,650,448 (GRCm39) *562L probably null Het
Slc26a6 G A 9: 108,734,236 (GRCm39) V206I probably benign Het
Slc45a3 A G 1: 131,905,637 (GRCm39) E206G probably damaging Het
Smc1a T A X: 150,816,695 (GRCm39) Y516N probably damaging Het
Smpd3 A G 8: 106,984,039 (GRCm39) V560A probably benign Het
Spata31g1 A G 4: 42,972,946 (GRCm39) K760E probably benign Het
Ssc4d T C 5: 135,994,578 (GRCm39) T51A possibly damaging Het
Suco A G 1: 161,676,220 (GRCm39) I386T probably damaging Het
Tecta A T 9: 42,289,290 (GRCm39) M425K possibly damaging Het
Tmprss11e G A 5: 86,869,266 (GRCm39) R96W probably damaging Het
Trim63 T C 4: 134,050,308 (GRCm39) probably benign Het
Trpv1 A G 11: 73,145,675 (GRCm39) K403R probably damaging Het
Ttc39d A G 17: 80,524,982 (GRCm39) Y547C probably damaging Het
Unc79 C T 12: 102,957,684 (GRCm39) T33I probably damaging Het
Usp47 G A 7: 111,681,743 (GRCm39) S518N probably damaging Het
Vmn2r22 T A 6: 123,614,594 (GRCm39) D332V probably damaging Het
Vmn2r55 A G 7: 12,385,832 (GRCm39) L716P probably damaging Het
Zfp558 T C 9: 18,367,924 (GRCm39) N288S 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
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
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'- TCCAGTACTAAATTTTGAGCTCCC -3'
(R):5'- GTTGGAAAAGTTGGCCTCATTAAC -3'

Sequencing Primer
(F):5'- GCTCCCTATGAATTTGATGAACTGG -3'
(R):5'- GGCCTCATTAACATATTTACAGGC -3'
Posted On 2015-02-05