Incidental Mutation 'IGL00895:Senp7'
ID 29122
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Senp7
Ensembl Gene ENSMUSG00000052917
Gene Name SUMO1/sentrin specific peptidase 7
Synonyms 2900036C23Rik, 6030449K19Rik, 2410152H17Rik, 2810413I22Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.246) question?
Stock # IGL00895
Quality Score
Status
Chromosome 16
Chromosomal Location 55869306-56010394 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 55902740 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 21 (R21L)
Ref Sequence ENSEMBL: ENSMUSP00000144116 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049128] [ENSMUST00000089360] [ENSMUST00000089362] [ENSMUST00000201011] [ENSMUST00000202799] [ENSMUST00000202000]
AlphaFold Q8BUH8
Predicted Effect probably benign
Transcript: ENSMUST00000049128
AA Change: R21L

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000043023
Gene: ENSMUSG00000052917
AA Change: R21L

DomainStartEndE-ValueType
internal_repeat_1 86 118 1.08e-5 PROSPERO
internal_repeat_1 152 184 1.08e-5 PROSPERO
low complexity region 192 208 N/A INTRINSIC
low complexity region 221 233 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000089360
AA Change: R21L

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000086776
Gene: ENSMUSG00000052917
AA Change: R21L

DomainStartEndE-ValueType
low complexity region 165 181 N/A INTRINSIC
low complexity region 352 376 N/A INTRINSIC
low complexity region 386 395 N/A INTRINSIC
low complexity region 639 646 N/A INTRINSIC
Pfam:Peptidase_C48 734 999 7.8e-36 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000089362
AA Change: R21L

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000086779
Gene: ENSMUSG00000052917
AA Change: R21L

DomainStartEndE-ValueType
low complexity region 192 208 N/A INTRINSIC
low complexity region 379 403 N/A INTRINSIC
low complexity region 413 422 N/A INTRINSIC
low complexity region 666 673 N/A INTRINSIC
Pfam:Peptidase_C48 761 1026 8.5e-36 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000201011
AA Change: R21L

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201418
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201915
Predicted Effect possibly damaging
Transcript: ENSMUST00000202799
AA Change: R21L

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000144348
Gene: ENSMUSG00000052917
AA Change: R21L

DomainStartEndE-ValueType
internal_repeat_1 59 91 2.07e-5 PROSPERO
internal_repeat_1 125 157 2.07e-5 PROSPERO
low complexity region 165 181 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000202000
AA Change: R21L

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000144116
Gene: ENSMUSG00000052917
AA Change: R21L

DomainStartEndE-ValueType
low complexity region 192 208 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a SUMO deconjugating enzyme of the Sentrin/SUMO-specific protease (SENP) family. The encoded protein is a protease that exhibits deSUMOylating activity towards proteins involved in chromatin remodeling and promotes chromatin relaxation for DNA repair or transcription. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl6ip6 T A 2: 53,092,936 (GRCm39) W154R probably damaging Het
Ccnc T A 4: 21,742,642 (GRCm39) Y156* probably null Het
Clca3a1 A C 3: 144,730,357 (GRCm39) W163G probably damaging Het
Cntnap5b C T 1: 100,311,310 (GRCm39) T972I probably damaging Het
Cpn2 C T 16: 30,079,338 (GRCm39) S121N probably benign Het
Dcc T C 18: 71,943,871 (GRCm39) E260G probably damaging Het
Dnah6 A T 6: 73,133,333 (GRCm39) N1091K possibly damaging Het
Dpp9 G T 17: 56,512,240 (GRCm39) F249L probably damaging Het
Dscaml1 A G 9: 45,662,551 (GRCm39) D1839G probably damaging Het
Esr1 C T 10: 4,997,890 (GRCm38) R481L probably benign Het
Frem2 G T 3: 53,493,016 (GRCm39) D1833E probably damaging Het
Ftdc2 A T 16: 58,458,059 (GRCm39) Y81N probably benign Het
Ica1 T C 6: 8,653,514 (GRCm39) D343G probably benign Het
Il27 T C 7: 126,188,555 (GRCm39) H206R probably benign Het
Med14 A G X: 12,547,039 (GRCm39) V723A probably damaging Het
Msh3 C A 13: 92,481,472 (GRCm39) G347C probably damaging Het
Nfasc T A 1: 132,501,536 (GRCm39) K1262* probably null Het
Nlrp9a A T 7: 26,258,103 (GRCm39) M485L probably benign Het
Or4c111 A G 2: 88,843,953 (GRCm39) F152L probably benign Het
Or4f60 A G 2: 111,902,100 (GRCm39) V276A probably damaging Het
Pcdhb5 T G 18: 37,454,036 (GRCm39) L139V probably benign Het
Rbfox1 A T 16: 7,187,698 (GRCm39) K43N probably benign Het
Scn5a G T 9: 119,342,170 (GRCm39) probably null Het
Ssb G A 2: 69,696,606 (GRCm39) V47I probably benign Het
Ttll8 T A 15: 88,817,731 (GRCm39) S221C probably damaging Het
Other mutations in Senp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01610:Senp7 APN 16 55,996,186 (GRCm39) missense possibly damaging 0.94
IGL01627:Senp7 APN 16 55,992,219 (GRCm39) missense probably damaging 1.00
IGL02748:Senp7 APN 16 56,006,457 (GRCm39) missense probably damaging 1.00
IGL03031:Senp7 APN 16 55,996,249 (GRCm39) missense probably damaging 1.00
IGL03083:Senp7 APN 16 55,992,228 (GRCm39) missense probably benign 0.28
R0034:Senp7 UTSW 16 55,973,933 (GRCm39) missense possibly damaging 0.63
R0200:Senp7 UTSW 16 55,944,236 (GRCm39) missense possibly damaging 0.66
R0242:Senp7 UTSW 16 55,999,884 (GRCm39) missense probably damaging 1.00
R0242:Senp7 UTSW 16 55,999,884 (GRCm39) missense probably damaging 1.00
R0547:Senp7 UTSW 16 55,996,189 (GRCm39) missense probably damaging 1.00
R0608:Senp7 UTSW 16 55,944,236 (GRCm39) missense possibly damaging 0.66
R1595:Senp7 UTSW 16 56,005,131 (GRCm39) missense probably damaging 1.00
R1737:Senp7 UTSW 16 55,944,162 (GRCm39) missense probably damaging 1.00
R1837:Senp7 UTSW 16 55,978,879 (GRCm39) missense probably benign 0.01
R1945:Senp7 UTSW 16 55,944,309 (GRCm39) missense probably damaging 0.98
R2143:Senp7 UTSW 16 55,990,169 (GRCm39) missense probably benign
R2275:Senp7 UTSW 16 56,005,146 (GRCm39) missense probably damaging 1.00
R2508:Senp7 UTSW 16 55,971,725 (GRCm39) missense probably benign 0.28
R3404:Senp7 UTSW 16 56,008,640 (GRCm39) missense probably damaging 1.00
R3405:Senp7 UTSW 16 56,008,640 (GRCm39) missense probably damaging 1.00
R3717:Senp7 UTSW 16 55,999,420 (GRCm39) splice site probably benign
R3885:Senp7 UTSW 16 56,006,442 (GRCm39) missense probably damaging 1.00
R4159:Senp7 UTSW 16 55,973,832 (GRCm39) missense possibly damaging 0.86
R4160:Senp7 UTSW 16 55,973,832 (GRCm39) missense possibly damaging 0.86
R4161:Senp7 UTSW 16 55,973,832 (GRCm39) missense possibly damaging 0.86
R4512:Senp7 UTSW 16 55,986,246 (GRCm39) missense probably damaging 1.00
R5291:Senp7 UTSW 16 56,006,542 (GRCm39) nonsense probably null
R5315:Senp7 UTSW 16 56,000,889 (GRCm39) missense probably benign 0.26
R5390:Senp7 UTSW 16 55,990,279 (GRCm39) missense probably benign
R5424:Senp7 UTSW 16 56,006,471 (GRCm39) missense possibly damaging 0.82
R5643:Senp7 UTSW 16 56,004,512 (GRCm39) splice site silent
R5644:Senp7 UTSW 16 56,004,512 (GRCm39) splice site silent
R5645:Senp7 UTSW 16 55,993,571 (GRCm39) missense possibly damaging 0.80
R5799:Senp7 UTSW 16 55,959,468 (GRCm39) splice site probably null
R5860:Senp7 UTSW 16 55,975,722 (GRCm39) missense possibly damaging 0.49
R5954:Senp7 UTSW 16 55,990,234 (GRCm39) missense probably benign 0.04
R6164:Senp7 UTSW 16 55,990,117 (GRCm39) missense probably damaging 1.00
R6280:Senp7 UTSW 16 55,982,738 (GRCm39) missense possibly damaging 0.62
R6647:Senp7 UTSW 16 55,993,618 (GRCm39) missense probably damaging 1.00
R6652:Senp7 UTSW 16 55,944,257 (GRCm39) missense probably benign 0.08
R7310:Senp7 UTSW 16 56,006,445 (GRCm39) missense probably benign 0.18
R7460:Senp7 UTSW 16 55,993,545 (GRCm39) missense possibly damaging 0.65
R7480:Senp7 UTSW 16 55,975,589 (GRCm39) missense possibly damaging 0.80
R7609:Senp7 UTSW 16 55,932,000 (GRCm39) missense probably benign 0.06
R7760:Senp7 UTSW 16 55,959,442 (GRCm39) missense probably benign
R8171:Senp7 UTSW 16 55,932,089 (GRCm39) missense probably damaging 1.00
R8290:Senp7 UTSW 16 55,974,000 (GRCm39) nonsense probably null
R8305:Senp7 UTSW 16 55,975,603 (GRCm39) missense probably damaging 1.00
R8353:Senp7 UTSW 16 56,008,691 (GRCm39) missense probably damaging 1.00
R8394:Senp7 UTSW 16 55,990,190 (GRCm39) missense possibly damaging 0.81
R8428:Senp7 UTSW 16 55,999,391 (GRCm39) missense probably damaging 1.00
R8453:Senp7 UTSW 16 56,008,691 (GRCm39) missense probably damaging 1.00
R8554:Senp7 UTSW 16 55,978,973 (GRCm39) missense probably benign 0.01
R8669:Senp7 UTSW 16 55,986,315 (GRCm39) missense probably damaging 0.97
R9153:Senp7 UTSW 16 56,006,486 (GRCm39) missense probably benign 0.34
R9521:Senp7 UTSW 16 55,992,144 (GRCm39) missense probably damaging 1.00
R9617:Senp7 UTSW 16 55,971,652 (GRCm39) missense probably benign 0.02
R9624:Senp7 UTSW 16 55,990,075 (GRCm39) missense probably damaging 1.00
R9631:Senp7 UTSW 16 55,975,631 (GRCm39) missense probably benign 0.45
R9657:Senp7 UTSW 16 55,944,295 (GRCm39) nonsense probably null
R9718:Senp7 UTSW 16 55,944,277 (GRCm39) missense probably damaging 0.98
R9727:Senp7 UTSW 16 55,990,169 (GRCm39) missense probably benign
U24488:Senp7 UTSW 16 56,005,182 (GRCm39) missense probably damaging 0.99
Posted On 2013-04-17