Incidental Mutation 'IGL03242:Usp13'
ID 414892
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 # IGL03242
Quality Score
Status
Chromosome 3
Chromosomal Location 32871695-32992220 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 32956218 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 496 (M496L)
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: M497L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000072155
Gene: ENSMUSG00000056900
AA Change: M497L

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: M496L

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000103863
Gene: ENSMUSG00000056900
AA Change: M496L

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: M497L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000133823
Gene: ENSMUSG00000056900
AA Change: M497L

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T C 16: 4,667,189 (GRCm39) W221R unknown Het
Ank2 A G 3: 126,722,454 (GRCm39) F1000L possibly damaging Het
Aoc1l2 T C 6: 48,909,479 (GRCm39) F575L possibly damaging Het
Bahcc1 T C 11: 120,159,126 (GRCm39) probably benign Het
BC024139 T C 15: 76,004,520 (GRCm39) M679V probably benign Het
Carmil2 A G 8: 106,417,952 (GRCm39) probably benign Het
Catsperg2 A G 7: 29,424,904 (GRCm39) probably benign Het
Chrnb4 A T 9: 54,942,812 (GRCm39) I154K probably damaging Het
Clec2e A C 6: 129,071,989 (GRCm39) L130W probably damaging Het
Coro2b G T 9: 62,336,243 (GRCm39) Y281* probably null Het
Dlk2 A G 17: 46,613,903 (GRCm39) Y386C probably benign Het
Dnah7a A T 1: 53,659,882 (GRCm39) F709I probably benign Het
Efcab3 A C 11: 104,997,230 (GRCm39) E140A probably damaging Het
Exoc1 T C 5: 76,706,854 (GRCm39) L467P probably damaging Het
Fkbp2 A G 19: 6,955,980 (GRCm39) V75A probably benign Het
Glud1 T C 14: 34,056,237 (GRCm39) F304L probably benign Het
Gsr T A 8: 34,175,627 (GRCm39) V291E probably benign Het
Itprid2 C T 2: 79,473,815 (GRCm39) R189* probably null Het
Kap A G 6: 133,828,763 (GRCm39) probably benign Het
Kmt2a G T 9: 44,759,689 (GRCm39) T720N probably damaging Het
Lrrtm4 T C 6: 79,999,071 (GRCm39) I161T probably benign Het
Lyst T A 13: 13,831,466 (GRCm39) L1630* probably null Het
Med13l A G 5: 118,885,510 (GRCm39) S1488G probably benign Het
Mlxip A G 5: 123,578,124 (GRCm39) K147E probably damaging Het
Nalcn T C 14: 123,558,899 (GRCm39) E810G possibly damaging Het
Or2d4 A G 7: 106,544,125 (GRCm39) F28L possibly damaging Het
Or56a5 G A 7: 104,793,473 (GRCm39) S15F probably benign Het
Or5p54 T C 7: 107,554,688 (GRCm39) V280A possibly damaging Het
Pcare A G 17: 72,057,266 (GRCm39) S804P probably benign Het
Piezo2 T C 18: 63,144,609 (GRCm39) probably benign Het
Scgb2b7 A T 7: 31,404,506 (GRCm39) C65S probably damaging Het
Serpina3j G A 12: 104,285,960 (GRCm39) A372T possibly damaging Het
Slc28a3 G A 13: 58,722,063 (GRCm39) Q274* probably null Het
Stk36 T C 1: 74,662,511 (GRCm39) F543S possibly damaging Het
Tfrc T C 16: 32,448,930 (GRCm39) S690P probably damaging Het
Tg C A 15: 66,555,647 (GRCm39) Q780K probably damaging Het
Top1 T A 2: 160,557,653 (GRCm39) H578Q probably damaging Het
Treh A G 9: 44,596,634 (GRCm39) T463A possibly damaging Het
Treml1 G A 17: 48,673,016 (GRCm39) probably benign Het
Trpm2 A G 10: 77,753,568 (GRCm39) V1312A probably benign Het
Ttc41 T A 10: 86,612,683 (GRCm39) *1319K probably null Het
Tulp2 A G 7: 45,171,282 (GRCm39) I354M probably damaging Het
Ugt2b35 T C 5: 87,155,254 (GRCm39) L363P probably damaging Het
Virma T C 4: 11,527,669 (GRCm39) S1187P possibly damaging Het
Wdr76 T A 2: 121,372,951 (GRCm39) C593S probably damaging Het
Zfp446 G A 7: 12,713,252 (GRCm39) A97T probably damaging 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
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
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 2016-08-02