Incidental Mutation 'R6114:Usp13'
ID 484998
Institutional Source Beutler Lab
Gene Symbol Usp13
Ensembl Gene ENSMUSG00000056900
Gene Name ubiquitin specific peptidase 13 (isopeptidase T-3)
Synonyms 2700071E21Rik, IsoT-3, ISOT3
MMRRC Submission 044263-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6114 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 32871695-32992220 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 32908818 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 155 (P155S)
Ref Sequence ENSEMBL: ENSMUSP00000133823 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072312] [ENSMUST00000108228] [ENSMUST00000172481]
AlphaFold Q5BKP2
Predicted Effect probably damaging
Transcript: ENSMUST00000072312
AA Change: P155S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072155
Gene: ENSMUSG00000056900
AA Change: P155S

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: P154S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103863
Gene: ENSMUSG00000056900
AA Change: P154S

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 damaging
Transcript: ENSMUST00000172481
AA Change: P155S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133823
Gene: ENSMUSG00000056900
AA Change: P155S

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
Meta Mutation Damage Score 0.4417 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
Validation Efficiency 94% (60/64)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 C A 14: 68,809,252 (GRCm39) V237L probably benign Het
Aff1 T C 5: 103,990,163 (GRCm39) S878P probably damaging Het
Ahcy A C 2: 154,904,079 (GRCm39) L386R probably damaging Het
Ank2 T C 3: 126,804,700 (GRCm39) N607D probably damaging Het
Arid5b T C 10: 67,933,574 (GRCm39) D776G possibly damaging Het
Art4 T A 6: 136,834,211 (GRCm39) T11S unknown Het
Blm T C 7: 80,163,235 (GRCm39) T39A probably damaging Het
Cabin1 T A 10: 75,583,805 (GRCm39) M221L probably benign Het
Cacna1c T C 6: 118,573,101 (GRCm39) T1675A probably benign Het
Cacnb2 A T 2: 14,980,012 (GRCm39) H285L possibly damaging Het
Cchcr1 A G 17: 35,836,227 (GRCm39) E339G probably damaging Het
Cd14 A G 18: 36,859,006 (GRCm39) W150R probably damaging Het
Cep162 A G 9: 87,085,763 (GRCm39) I1187T probably benign Het
Cntnap4 A G 8: 113,568,385 (GRCm39) H807R probably damaging Het
Copb1 T A 7: 113,846,036 (GRCm39) H178L probably benign Het
Cpxm2 A G 7: 131,756,035 (GRCm39) V103A probably benign Het
Egfr A G 11: 16,854,374 (GRCm39) T849A possibly damaging Het
Endou T A 15: 97,611,757 (GRCm39) K294* probably null Het
Hoxd9 A G 2: 74,529,709 (GRCm39) N322D probably damaging Het
Hsph1 C A 5: 149,550,852 (GRCm39) V416L possibly damaging Het
Igkv4-78 T A 6: 69,036,743 (GRCm39) T97S possibly damaging Het
Itga10 G T 3: 96,556,351 (GRCm39) C162F probably damaging Het
Lmod2 A G 6: 24,603,691 (GRCm39) E222G probably damaging Het
Lpar5 A G 6: 125,058,639 (GRCm39) N120S probably damaging Het
Lrrc37 T A 11: 103,508,617 (GRCm39) probably benign Het
Lrrk2 A G 15: 91,632,029 (GRCm39) I1318V probably benign Het
Lst1 T C 17: 35,407,336 (GRCm39) T11A possibly damaging Het
Mfn1 C A 3: 32,617,985 (GRCm39) A106D probably damaging Het
Ms4a12 G T 19: 11,192,654 (GRCm39) N227K probably benign Het
Nr1h4 T A 10: 89,314,678 (GRCm39) N273Y possibly damaging Het
Nrdc A T 4: 108,901,782 (GRCm39) K617M probably damaging Het
Or10a3b A T 7: 108,444,593 (GRCm39) M208K possibly damaging Het
Or1l8 A T 2: 36,817,701 (GRCm39) C142S possibly damaging Het
Or6c202 T A 10: 128,996,202 (GRCm39) H217L probably benign Het
Pcdhgc3 C G 18: 37,940,925 (GRCm39) T442R probably benign Het
Pcnx2 T C 8: 126,500,686 (GRCm39) N1468S probably damaging Het
Pde2a A T 7: 101,160,319 (GRCm39) probably null Het
Pitx2 C G 3: 128,998,062 (GRCm39) probably null Het
Reck T A 4: 43,922,895 (GRCm39) I390N probably damaging Het
Rora A G 9: 69,278,605 (GRCm39) N254S probably benign Het
Samd4b A G 7: 28,222,217 (GRCm39) probably null Het
Scn8a A G 15: 100,938,477 (GRCm39) T1949A probably damaging Het
Slc22a15 A T 3: 101,768,168 (GRCm39) Y346* probably null Het
Slc24a5 A G 2: 124,925,012 (GRCm39) T218A probably benign Het
Slc38a10 G A 11: 120,020,138 (GRCm39) Q305* probably null Het
Slc45a4 G A 15: 73,477,453 (GRCm39) P28S probably damaging Het
Smyd5 A T 6: 85,417,244 (GRCm39) probably benign Het
Sox8 T C 17: 25,786,494 (GRCm39) D403G probably damaging Het
Stx7 A G 10: 24,060,883 (GRCm39) probably null Het
Svil T C 18: 5,108,639 (GRCm39) S1522P probably damaging Het
Sycp2 G C 2: 177,990,038 (GRCm39) R1403G probably benign Het
Tasor2 G A 13: 3,640,081 (GRCm39) T352M probably damaging Het
Tcf25 A T 8: 124,111,114 (GRCm39) K192M probably damaging Het
Tecpr1 C T 5: 144,141,458 (GRCm39) G804S possibly damaging Het
Teddm1a C G 1: 153,767,614 (GRCm39) S26C probably damaging Het
Usp17lb T A 7: 104,489,571 (GRCm39) D451V possibly damaging Het
Vmn1r173 A G 7: 23,402,254 (GRCm39) N163S possibly damaging Het
Vmn2r103 G T 17: 20,032,587 (GRCm39) C787F probably damaging Het
Vmn2r106 G A 17: 20,488,638 (GRCm39) P587L probably benign Het
Wdr24 C T 17: 26,043,579 (GRCm39) H134Y probably benign Het
Zbtb40 T A 4: 136,716,002 (GRCm39) I988F probably damaging Het
Zbtb47 T A 9: 121,594,661 (GRCm39) F540Y probably damaging Het
Zfp536 A T 7: 37,179,161 (GRCm39) I84N 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
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
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
Predicted Primers PCR Primer
(F):5'- TTAGCCCTGTGGATTCCCTG -3'
(R):5'- TCGCAGAGGAGACTGATATCC -3'

Sequencing Primer
(F):5'- CCCTGTGGATTCCCTGTGAGG -3'
(R):5'- GAGGAGACTGATATCCCTGTTCAC -3'
Posted On 2017-08-16