Incidental Mutation 'IGL02065:Usp13'
ID 185601
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 # IGL02065
Quality Score
Status
Chromosome 3
Chromosomal Location 32871695-32992220 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 32987314 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 837 (V837I)
Ref Sequence ENSEMBL: ENSMUSP00000072155 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072312] [ENSMUST00000108228]
AlphaFold Q5BKP2
Predicted Effect probably damaging
Transcript: ENSMUST00000072312
AA Change: V837I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072155
Gene: ENSMUSG00000056900
AA Change: V837I

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 damaging
Transcript: ENSMUST00000108228
AA Change: V836I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103863
Gene: ENSMUSG00000056900
AA Change: V836I

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: ENSMUST00000156769
SMART Domains Protein: ENSMUSP00000117605
Gene: ENSMUSG00000056900

DomainStartEndE-ValueType
UBA 9 47 1.25e-6 SMART
UBA 81 118 1.19e-12 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 C T 17: 46,623,827 (GRCm39) E770K possibly damaging Het
Abhd17a C A 10: 80,422,395 (GRCm39) A22S probably benign Het
Actbl2 A G 13: 111,392,225 (GRCm39) T187A probably benign Het
Adgrl3 G A 5: 81,660,064 (GRCm39) G278R probably damaging Het
Apoh C A 11: 108,305,131 (GRCm39) probably benign Het
Atp2b2 A G 6: 113,790,828 (GRCm39) F192S probably damaging Het
Bdh1 T C 16: 31,268,754 (GRCm39) I163T possibly damaging Het
Bmp1 G T 14: 70,723,660 (GRCm39) N725K probably damaging Het
Bmp1 T A 14: 70,727,547 (GRCm39) I679F probably damaging Het
Bmp2 T A 2: 133,402,844 (GRCm39) F132I probably benign Het
Bpifb5 T C 2: 154,069,103 (GRCm39) L140P probably damaging Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Carmil3 T C 14: 55,731,279 (GRCm39) probably benign Het
Ccdc57 T C 11: 120,764,586 (GRCm39) T730A possibly damaging Het
Cdh10 G T 15: 19,013,342 (GRCm39) K647N probably damaging Het
Cdh17 A C 4: 11,771,373 (GRCm39) probably benign Het
Cep126 A G 9: 8,099,925 (GRCm39) S870P probably benign Het
Col6a4 T C 9: 105,954,302 (GRCm39) T346A probably damaging Het
Csmd3 A C 15: 47,530,024 (GRCm39) V2592G probably damaging Het
Dnajc16 A T 4: 141,504,244 (GRCm39) F239I probably damaging Het
Entrep3 C T 3: 89,095,903 (GRCm39) R545* probably null Het
F5 G A 1: 164,017,695 (GRCm39) V591M probably damaging Het
Fchsd2 T G 7: 100,826,429 (GRCm39) probably null Het
Flad1 A T 3: 89,316,294 (GRCm39) D89E probably damaging Het
Fsd1 C A 17: 56,303,499 (GRCm39) P457Q probably damaging Het
Gm21985 A G 2: 112,187,929 (GRCm39) D1012G possibly damaging Het
Gon4l A G 3: 88,764,517 (GRCm39) D366G probably null Het
Hadha A G 5: 30,347,843 (GRCm39) probably benign Het
Kdr A G 5: 76,122,513 (GRCm39) probably benign Het
Kyat3 A G 3: 142,426,136 (GRCm39) K24R probably benign Het
Map3k21 A G 8: 126,668,397 (GRCm39) D661G probably benign Het
Mical1 A T 10: 41,360,407 (GRCm39) K615N possibly damaging Het
Ncor1 T C 11: 62,310,435 (GRCm39) K204E possibly damaging Het
Nmral1 T A 16: 4,534,346 (GRCm39) I32F probably benign Het
Nrros T C 16: 31,963,492 (GRCm39) D175G possibly damaging Het
Or10ak8 G A 4: 118,773,968 (GRCm39) T232I probably benign Het
Or12j5 T C 7: 140,084,077 (GRCm39) I98M probably benign Het
Ryr2 A G 13: 11,587,143 (GRCm39) F4713L possibly damaging Het
Serpinb1b G A 13: 33,275,301 (GRCm39) G142D possibly damaging Het
Slc10a1 A G 12: 81,007,248 (GRCm39) S178P possibly damaging Het
Spint1 G A 2: 119,068,698 (GRCm39) R144H probably benign Het
Sult6b1 C T 17: 79,196,504 (GRCm39) G213R probably damaging Het
Themis3 G T 17: 66,862,900 (GRCm39) H353N probably benign Het
Tpr T C 1: 150,289,525 (GRCm39) S619P probably benign Het
Ttn A T 2: 76,645,134 (GRCm39) V11161E probably damaging Het
Usp25 T C 16: 76,880,670 (GRCm39) V677A probably benign Het
Wdr62 A G 7: 29,942,894 (GRCm39) V1001A possibly damaging Het
Whrn A T 4: 63,336,822 (GRCm39) I580N possibly damaging Het
Wls T A 3: 159,616,993 (GRCm39) V344D probably damaging Het
Zan A T 5: 137,385,222 (GRCm39) Y5070* 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
IGL02390:Usp13 APN 3 32,985,865 (GRCm39) nonsense probably null
IGL02399:Usp13 APN 3 32,973,209 (GRCm39) missense probably damaging 1.00
IGL02535:Usp13 APN 3 32,892,075 (GRCm39) missense probably benign 0.43
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 2014-05-07