Incidental Mutation 'IGL02535:Usp13'
ID 297469
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp13
Ensembl Gene ENSMUSG00000056900
Gene Name ubiquitin specific peptidase 13 (isopeptidase T-3)
Synonyms 2700071E21Rik, IsoT-3, ISOT3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02535
Quality Score
Status
Chromosome 3
Chromosomal Location 32871695-32992220 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32892075 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 85 (S85G)
Ref Sequence ENSEMBL: ENSMUSP00000103863 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072312] [ENSMUST00000108228] [ENSMUST00000172481]
AlphaFold Q5BKP2
Predicted Effect probably benign
Transcript: ENSMUST00000072312
AA Change: S85G

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000072155
Gene: ENSMUSG00000056900
AA Change: S85G

DomainStartEndE-ValueType
low complexity region 12 23 N/A INTRINSIC
Blast:ZnF_UBP 46 91 1e-17 BLAST
low complexity region 116 134 N/A INTRINSIC
ZnF_UBP 208 263 2.91e-20 SMART
low complexity region 625 639 N/A INTRINSIC
UBA 652 690 1.25e-6 SMART
UBA 724 761 1.19e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108228
AA Change: S85G

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000103863
Gene: ENSMUSG00000056900
AA Change: S85G

DomainStartEndE-ValueType
low complexity region 12 23 N/A INTRINSIC
Blast:ZnF_UBP 46 91 1e-17 BLAST
low complexity region 115 133 N/A INTRINSIC
ZnF_UBP 207 262 2.91e-20 SMART
low complexity region 624 638 N/A INTRINSIC
UBA 651 689 1.25e-6 SMART
UBA 723 760 1.19e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172481
AA Change: S85G

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000133823
Gene: ENSMUSG00000056900
AA Change: S85G

DomainStartEndE-ValueType
low complexity region 12 23 N/A INTRINSIC
Blast:ZnF_UBP 46 91 9e-18 BLAST
low complexity region 116 134 N/A INTRINSIC
ZnF_UBP 208 263 2.91e-20 SMART
Pfam:UCH 333 523 5.1e-27 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 G T 6: 142,574,152 (GRCm39) D993E probably benign Het
Acap1 T C 11: 69,773,520 (GRCm39) N430D probably benign Het
Actl11 T A 9: 107,807,136 (GRCm39) D486E possibly damaging Het
Adh6a A G 3: 138,033,151 (GRCm39) N281D probably benign Het
Apon A T 10: 128,090,823 (GRCm39) E167V probably damaging Het
Bahcc1 T A 11: 120,178,362 (GRCm39) M2307K possibly damaging Het
Cdca3 A G 6: 124,807,521 (GRCm39) T10A probably damaging Het
Cplane1 T G 15: 8,204,322 (GRCm39) V65G probably damaging Het
Dusp16 T C 6: 134,695,790 (GRCm39) E347G probably benign Het
Dysf A T 6: 84,126,679 (GRCm39) Y1298F possibly damaging Het
F12 T C 13: 55,574,157 (GRCm39) D25G possibly damaging Het
F5 T A 1: 164,026,302 (GRCm39) S1625T probably damaging Het
Fbxl2 T C 9: 113,808,575 (GRCm39) E372G probably benign Het
Flrt1 T C 19: 7,074,098 (GRCm39) I150V probably benign Het
Grin2b T A 6: 135,756,367 (GRCm39) I453F possibly damaging Het
Hivep2 C T 10: 14,015,241 (GRCm39) R1803C probably damaging Het
Il33 A G 19: 29,930,147 (GRCm39) N81D probably benign Het
Ipo7 T C 7: 109,653,233 (GRCm39) Y977H probably damaging Het
Lyst T C 13: 13,824,927 (GRCm39) V1514A probably benign Het
Map1a C A 2: 121,132,658 (GRCm39) S920* probably null Het
Nlrp9c T C 7: 26,071,522 (GRCm39) N862S probably damaging Het
Or1e29 A G 11: 73,667,442 (GRCm39) V237A probably benign Het
Or8k22 A G 2: 86,163,019 (GRCm39) M227T probably damaging Het
Or9s23 C A 1: 92,500,943 (GRCm39) Q17K probably benign Het
P2rx2 T A 5: 110,490,219 (GRCm39) T134S probably benign Het
Papolg T C 11: 23,840,245 (GRCm39) D77G probably benign Het
Pkd1l3 A T 8: 110,367,522 (GRCm39) R1240* probably null Het
Radx A T X: 138,393,396 (GRCm39) K217I probably damaging Het
Slc22a8 A T 19: 8,587,567 (GRCm39) T514S probably benign Het
Slc39a5 T C 10: 128,235,199 (GRCm39) D136G probably benign Het
Tnn T C 1: 159,950,222 (GRCm39) probably null Het
Trav8d-2 A T 14: 53,280,141 (GRCm39) S44C probably damaging Het
Tubb1 A G 2: 174,299,359 (GRCm39) N347S probably benign Het
Ubap1 C T 4: 41,379,667 (GRCm39) R294* probably null Het
Ube2o C T 11: 116,432,591 (GRCm39) V792M probably benign Het
Vmac C T 17: 57,022,550 (GRCm39) M61I probably benign Het
Vmn1r54 T A 6: 90,246,260 (GRCm39) I58N possibly damaging Het
Zmym5 A G 14: 57,035,123 (GRCm39) probably null Het
Other mutations in Usp13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00499:Usp13 APN 3 32,935,560 (GRCm39) missense probably damaging 0.98
IGL00949:Usp13 APN 3 32,940,726 (GRCm39) missense possibly damaging 0.57
IGL01637:Usp13 APN 3 32,973,213 (GRCm39) missense probably benign 0.02
IGL01983:Usp13 APN 3 32,971,608 (GRCm39) missense probably damaging 1.00
IGL02002:Usp13 APN 3 32,901,974 (GRCm39) missense probably damaging 0.97
IGL02065:Usp13 APN 3 32,987,314 (GRCm39) missense probably damaging 1.00
IGL02390:Usp13 APN 3 32,985,865 (GRCm39) nonsense probably null
IGL02399:Usp13 APN 3 32,973,209 (GRCm39) missense probably damaging 1.00
IGL02863:Usp13 APN 3 32,973,096 (GRCm39) missense possibly damaging 0.95
IGL03017:Usp13 APN 3 32,969,861 (GRCm39) missense possibly damaging 0.90
IGL03242:Usp13 APN 3 32,956,218 (GRCm39) missense probably benign 0.17
PIT4504001:Usp13 UTSW 3 32,959,579 (GRCm39) missense probably damaging 1.00
R0113:Usp13 UTSW 3 32,872,025 (GRCm39) splice site probably benign
R0233:Usp13 UTSW 3 32,969,813 (GRCm39) splice site probably null
R0233:Usp13 UTSW 3 32,969,813 (GRCm39) splice site probably null
R1241:Usp13 UTSW 3 32,969,857 (GRCm39) missense probably damaging 1.00
R1765:Usp13 UTSW 3 32,969,919 (GRCm39) missense probably benign 0.01
R2105:Usp13 UTSW 3 32,956,135 (GRCm39) missense probably damaging 0.97
R2229:Usp13 UTSW 3 32,971,700 (GRCm39) missense probably benign 0.02
R2381:Usp13 UTSW 3 32,935,658 (GRCm39) critical splice donor site probably null
R2389:Usp13 UTSW 3 32,959,613 (GRCm39) missense probably benign 0.16
R3801:Usp13 UTSW 3 32,935,657 (GRCm39) missense possibly damaging 0.75
R4062:Usp13 UTSW 3 32,935,572 (GRCm39) missense probably damaging 1.00
R4653:Usp13 UTSW 3 32,892,073 (GRCm39) missense probably damaging 0.99
R5123:Usp13 UTSW 3 32,969,947 (GRCm39) missense probably benign 0.03
R5454:Usp13 UTSW 3 32,959,585 (GRCm39) missense probably damaging 1.00
R5527:Usp13 UTSW 3 32,919,987 (GRCm39) missense probably damaging 1.00
R5582:Usp13 UTSW 3 32,965,738 (GRCm39) missense probably damaging 1.00
R5589:Usp13 UTSW 3 32,892,007 (GRCm39) missense probably damaging 1.00
R5829:Usp13 UTSW 3 32,940,672 (GRCm39) missense possibly damaging 0.68
R6114:Usp13 UTSW 3 32,908,818 (GRCm39) missense probably damaging 1.00
R6625:Usp13 UTSW 3 32,949,025 (GRCm39) missense probably damaging 0.98
R6680:Usp13 UTSW 3 32,935,618 (GRCm39) missense probably damaging 0.98
R7175:Usp13 UTSW 3 32,971,757 (GRCm39) nonsense probably null
R7232:Usp13 UTSW 3 32,920,020 (GRCm39) missense probably benign 0.05
R7242:Usp13 UTSW 3 32,919,892 (GRCm39) splice site probably null
R7263:Usp13 UTSW 3 32,949,000 (GRCm39) missense probably damaging 1.00
R7533:Usp13 UTSW 3 32,973,091 (GRCm39) missense probably damaging 0.99
R7716:Usp13 UTSW 3 32,892,005 (GRCm39) nonsense probably null
R7734:Usp13 UTSW 3 32,892,054 (GRCm39) missense probably benign 0.13
R7943:Usp13 UTSW 3 32,931,089 (GRCm39) missense probably damaging 1.00
R8075:Usp13 UTSW 3 32,985,852 (GRCm39) missense probably damaging 1.00
R8141:Usp13 UTSW 3 32,949,025 (GRCm39) missense possibly damaging 0.52
R8259:Usp13 UTSW 3 32,971,748 (GRCm39) nonsense probably null
R8722:Usp13 UTSW 3 32,956,114 (GRCm39) missense probably benign 0.00
R8905:Usp13 UTSW 3 32,935,572 (GRCm39) missense probably damaging 1.00
R9060:Usp13 UTSW 3 32,965,812 (GRCm39) critical splice donor site probably null
R9081:Usp13 UTSW 3 32,935,542 (GRCm39) missense probably benign 0.00
R9260:Usp13 UTSW 3 32,955,909 (GRCm39) intron probably benign
R9576:Usp13 UTSW 3 32,969,135 (GRCm39) critical splice acceptor site probably null
X0064:Usp13 UTSW 3 32,940,738 (GRCm39) critical splice donor site probably null
Posted On 2015-04-16