Incidental Mutation 'R4906:Usp24'
ID 378172
Institutional Source Beutler Lab
Gene Symbol Usp24
Ensembl Gene ENSMUSG00000028514
Gene Name ubiquitin specific peptidase 24
Synonyms 2700066K03Rik, 2810030C21Rik
MMRRC Submission 042508-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4906 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 106173410-106298519 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106245834 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 1364 (I1364T)
Ref Sequence ENSEMBL: ENSMUSP00000133095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094933] [ENSMUST00000165709]
AlphaFold B1AY13
Predicted Effect probably benign
Transcript: ENSMUST00000094933
AA Change: I1363T

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000092538
Gene: ENSMUSG00000028514
AA Change: I1363T

DomainStartEndE-ValueType
Blast:UBA 5 43 2e-16 BLAST
low complexity region 57 96 N/A INTRINSIC
SCOP:d1gw5a_ 348 882 6e-7 SMART
low complexity region 1031 1059 N/A INTRINSIC
low complexity region 1124 1150 N/A INTRINSIC
low complexity region 1365 1378 N/A INTRINSIC
Pfam:UCH 1685 2036 3.7e-54 PFAM
Pfam:UCH_1 1686 1993 1.8e-27 PFAM
low complexity region 2066 2081 N/A INTRINSIC
low complexity region 2256 2267 N/A INTRINSIC
low complexity region 2576 2592 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165709
AA Change: I1364T

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000133095
Gene: ENSMUSG00000028514
AA Change: I1364T

DomainStartEndE-ValueType
Blast:UBA 5 43 2e-16 BLAST
low complexity region 57 96 N/A INTRINSIC
SCOP:d1gw5a_ 348 883 8e-7 SMART
low complexity region 1032 1060 N/A INTRINSIC
low complexity region 1125 1151 N/A INTRINSIC
low complexity region 1366 1379 N/A INTRINSIC
Pfam:UCH 1686 2037 2e-49 PFAM
Pfam:UCH_1 1687 1994 4e-24 PFAM
low complexity region 2067 2082 N/A INTRINSIC
low complexity region 2257 2268 N/A INTRINSIC
low complexity region 2577 2593 N/A INTRINSIC
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP24 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5330417H12Rik T C 7: 107,223,897 (GRCm39) probably benign Het
Ablim2 C T 5: 35,959,766 (GRCm39) R73C possibly damaging Het
Adgrf2 T C 17: 43,022,084 (GRCm39) I247V probably benign Het
Adgrv1 A G 13: 81,418,857 (GRCm39) probably null Het
Ankrd22 T A 19: 34,126,752 (GRCm39) K26I possibly damaging Het
Arhgap32 T A 9: 32,156,552 (GRCm39) probably null Het
Armc10 A G 5: 21,866,522 (GRCm39) Y262C probably damaging Het
Arrb2 A G 11: 70,330,725 (GRCm39) D374G probably benign Het
Ascc3 C T 10: 50,625,227 (GRCm39) R1675C probably damaging Het
Atg5 T C 10: 44,239,046 (GRCm39) *276R probably null Het
Bcl11b G A 12: 107,882,968 (GRCm39) T377M probably damaging Het
C1s2 C A 6: 124,612,073 (GRCm39) E104* probably null Het
Carf A T 1: 60,180,526 (GRCm39) H316L probably damaging Het
Ccdc77 A T 6: 120,311,796 (GRCm39) I234N probably damaging Het
Cd300c2 A T 11: 114,887,826 (GRCm39) V192E possibly damaging Het
Cep72 G A 13: 74,207,584 (GRCm39) R62C probably damaging Het
Clasp1 T A 1: 118,436,640 (GRCm39) L308* probably null Het
Clec2g A G 6: 128,956,411 (GRCm39) S25G probably benign Het
Cngb1 T C 8: 95,978,601 (GRCm39) M1046V probably damaging Het
Cobll1 A T 2: 64,928,037 (GRCm39) D1095E probably benign Het
Cpeb2 A G 5: 43,402,005 (GRCm39) H662R possibly damaging Het
Cps1 A T 1: 67,178,922 (GRCm39) T45S probably benign Het
Cspp1 A G 1: 10,152,553 (GRCm39) Q368R possibly damaging Het
Dcaf6 C A 1: 165,239,032 (GRCm39) probably null Het
Dcst1 T C 3: 89,257,814 (GRCm39) Y652C possibly damaging Het
Elf5 T G 2: 103,279,918 (GRCm39) Y225* probably null Het
Ermap A C 4: 119,046,015 (GRCm39) probably benign Het
Fam186b A T 15: 99,169,202 (GRCm39) V915D probably damaging Het
Fbxo34 C A 14: 47,766,911 (GRCm39) N90K probably benign Het
Flnc A G 6: 29,447,524 (GRCm39) E1109G probably damaging Het
Flt1 C A 5: 147,620,749 (GRCm39) A132S probably benign Het
Gabpb2 A G 3: 95,097,947 (GRCm39) V242A probably benign Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gm21798 A T 15: 64,689,732 (GRCm39) probably benign Het
Gpr179 A T 11: 97,237,487 (GRCm39) S345T possibly damaging Het
Gusb A T 5: 130,026,959 (GRCm39) F377L probably damaging Het
Hnrnpu T C 1: 178,156,938 (GRCm39) probably benign Het
Htr3b C T 9: 48,848,348 (GRCm39) probably null Het
Iqub A T 6: 24,501,368 (GRCm39) V194D probably damaging Het
Itga2b A G 11: 102,351,985 (GRCm39) V504A probably benign Het
Itga4 T A 2: 79,118,592 (GRCm39) F430L probably damaging Het
Jcad C A 18: 4,673,762 (GRCm39) P508H probably damaging Het
Jph1 T C 1: 17,161,835 (GRCm39) T276A probably damaging Het
Kansl2 A G 15: 98,429,771 (GRCm39) F87S possibly damaging Het
Kdm1b T C 13: 47,216,620 (GRCm39) probably null Het
Kif5b C T 18: 6,220,930 (GRCm39) D393N probably benign Het
Kmt2d A T 15: 98,747,420 (GRCm39) probably benign Het
Krt75 A G 15: 101,478,674 (GRCm39) I320T probably damaging Het
Lhfpl7 T A 5: 113,386,036 (GRCm39) M161K probably benign Het
Lipo5 T C 19: 33,443,348 (GRCm39) N156S unknown Het
Mblac2 A C 13: 81,859,706 (GRCm39) Q19P probably null Het
Mdfic2 A T 6: 98,215,080 (GRCm39) M181K probably damaging Het
Mfsd4b3-ps T C 10: 39,824,056 (GRCm39) H68R probably damaging Het
Mzb1 A T 18: 35,781,006 (GRCm39) probably null Het
Nup210l T A 3: 90,077,337 (GRCm39) I891N probably benign Het
Nwd1 G A 8: 73,398,841 (GRCm39) R667Q probably damaging Het
Oas1h C T 5: 121,005,172 (GRCm39) Q207* probably null Het
Or13c7d A T 4: 43,770,476 (GRCm39) F178L possibly damaging Het
Pcdh15 C T 10: 74,340,625 (GRCm39) R1120* probably null Het
Pfkl A G 10: 77,824,144 (GRCm39) L748P probably damaging Het
Phldb2 T A 16: 45,571,758 (GRCm39) K473N probably damaging Het
Rapgef6 G A 11: 54,443,662 (GRCm39) V82I probably damaging Het
Rfc3 A T 5: 151,570,960 (GRCm39) L112Q probably damaging Het
Rsph6a T A 7: 18,801,997 (GRCm39) C349S possibly damaging Het
Sec16a A T 2: 26,331,979 (GRCm39) probably benign Het
Septin14 T A 5: 129,770,030 (GRCm39) Y222F probably benign Het
Skor2 T C 18: 76,947,990 (GRCm39) S571P possibly damaging Het
Slc13a5 T A 11: 72,148,244 (GRCm39) M264L probably damaging Het
Slc45a3 T A 1: 131,909,315 (GRCm39) V504E probably damaging Het
Smg1 C T 7: 117,751,631 (GRCm39) probably benign Het
Smim20 A G 5: 53,434,503 (GRCm39) N45S probably null Het
Spp2 A T 1: 88,339,991 (GRCm39) S111C probably damaging Het
Sspo A G 6: 48,442,664 (GRCm39) probably null Het
Sycp2 C T 2: 178,045,450 (GRCm39) probably null Het
Tas2r113 A G 6: 132,870,521 (GRCm39) N183S possibly damaging Het
Tcaf2 A T 6: 42,606,679 (GRCm39) M425K probably benign Het
Tdrp A G 8: 14,003,845 (GRCm39) V164A possibly damaging Het
Tmbim1 A G 1: 74,328,568 (GRCm39) F298S probably damaging Het
Tmem89 A G 9: 108,743,829 (GRCm39) probably benign Het
Trpm2 G T 10: 77,768,023 (GRCm39) C825* probably null Het
Tsc1 A G 2: 28,565,201 (GRCm39) E421G possibly damaging Het
Vmn1r52 G A 6: 90,155,930 (GRCm39) G78E possibly damaging Het
Vmn2r73 T G 7: 85,506,829 (GRCm39) I828L probably damaging Het
Vwa5b1 A T 4: 138,338,058 (GRCm39) D87E probably benign Het
Zfp1010 T C 2: 176,957,223 (GRCm39) T92A possibly damaging Het
Zfp451 A T 1: 33,844,465 (GRCm39) D47E probably damaging Het
Zfp821 A G 8: 110,450,841 (GRCm39) E278G probably damaging Het
Zfp930 A T 8: 69,681,597 (GRCm39) T430S probably benign Het
Zfp994 G T 17: 22,419,448 (GRCm39) Y500* probably null Het
Zmat3 A T 3: 32,397,836 (GRCm39) I142N probably damaging Het
Zzef1 T A 11: 72,792,214 (GRCm39) I2266N probably damaging Het
Other mutations in Usp24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00329:Usp24 APN 4 106,216,288 (GRCm39) missense probably benign
IGL00340:Usp24 APN 4 106,258,336 (GRCm39) missense probably damaging 0.99
IGL00480:Usp24 APN 4 106,225,303 (GRCm39) missense probably damaging 0.99
IGL00548:Usp24 APN 4 106,198,495 (GRCm39) missense probably damaging 0.96
IGL00655:Usp24 APN 4 106,247,515 (GRCm39) missense probably damaging 0.99
IGL00674:Usp24 APN 4 106,229,876 (GRCm39) splice site probably benign
IGL00718:Usp24 APN 4 106,266,901 (GRCm39) missense probably benign 0.10
IGL00803:Usp24 APN 4 106,242,723 (GRCm39) splice site probably benign
IGL01161:Usp24 APN 4 106,294,041 (GRCm39) missense probably benign 0.02
IGL01344:Usp24 APN 4 106,236,582 (GRCm39) missense possibly damaging 0.73
IGL01374:Usp24 APN 4 106,237,296 (GRCm39) missense possibly damaging 0.86
IGL01485:Usp24 APN 4 106,219,429 (GRCm39) missense probably benign 0.01
IGL01736:Usp24 APN 4 106,280,658 (GRCm39) missense probably benign 0.00
IGL01737:Usp24 APN 4 106,244,931 (GRCm39) missense probably benign 0.03
IGL01862:Usp24 APN 4 106,266,095 (GRCm39) splice site probably benign
IGL01981:Usp24 APN 4 106,232,965 (GRCm39) splice site probably benign
IGL02090:Usp24 APN 4 106,268,623 (GRCm39) missense possibly damaging 0.55
IGL02275:Usp24 APN 4 106,244,690 (GRCm39) missense probably damaging 1.00
IGL02352:Usp24 APN 4 106,261,122 (GRCm39) missense probably damaging 1.00
IGL02359:Usp24 APN 4 106,261,122 (GRCm39) missense probably damaging 1.00
IGL02391:Usp24 APN 4 106,264,326 (GRCm39) missense possibly damaging 0.60
IGL02418:Usp24 APN 4 106,293,557 (GRCm39) missense probably benign 0.07
IGL02537:Usp24 APN 4 106,249,564 (GRCm39) missense probably damaging 1.00
IGL02638:Usp24 APN 4 106,295,969 (GRCm39) splice site probably benign
IGL02638:Usp24 APN 4 106,295,967 (GRCm39) splice site probably benign
IGL02830:Usp24 APN 4 106,204,584 (GRCm39) missense possibly damaging 0.79
IGL03125:Usp24 APN 4 106,249,599 (GRCm39) missense probably benign 0.09
IGL03280:Usp24 APN 4 106,237,627 (GRCm39) missense probably damaging 1.00
IGL03350:Usp24 APN 4 106,228,276 (GRCm39) nonsense probably null
BB010:Usp24 UTSW 4 106,285,686 (GRCm39) missense probably benign
BB020:Usp24 UTSW 4 106,285,686 (GRCm39) missense probably benign
IGL03098:Usp24 UTSW 4 106,228,230 (GRCm39) missense probably benign 0.11
R0035:Usp24 UTSW 4 106,225,224 (GRCm39) missense probably benign 0.18
R0044:Usp24 UTSW 4 106,269,281 (GRCm39) splice site probably benign
R0086:Usp24 UTSW 4 106,249,557 (GRCm39) missense probably damaging 0.98
R0125:Usp24 UTSW 4 106,254,496 (GRCm39) missense possibly damaging 0.76
R0197:Usp24 UTSW 4 106,264,330 (GRCm39) missense probably damaging 1.00
R0240:Usp24 UTSW 4 106,271,601 (GRCm39) nonsense probably null
R0240:Usp24 UTSW 4 106,271,601 (GRCm39) nonsense probably null
R0491:Usp24 UTSW 4 106,259,302 (GRCm39) missense probably benign 0.41
R0687:Usp24 UTSW 4 106,277,701 (GRCm39) missense probably damaging 1.00
R0973:Usp24 UTSW 4 106,270,875 (GRCm39) splice site probably null
R0973:Usp24 UTSW 4 106,228,276 (GRCm39) nonsense probably null
R0973:Usp24 UTSW 4 106,228,276 (GRCm39) nonsense probably null
R0974:Usp24 UTSW 4 106,270,875 (GRCm39) splice site probably null
R0974:Usp24 UTSW 4 106,228,276 (GRCm39) nonsense probably null
R1163:Usp24 UTSW 4 106,278,157 (GRCm39) missense probably benign
R1293:Usp24 UTSW 4 106,280,750 (GRCm39) missense probably benign 0.19
R1333:Usp24 UTSW 4 106,199,550 (GRCm39) missense possibly damaging 0.55
R1476:Usp24 UTSW 4 106,219,130 (GRCm39) missense probably damaging 1.00
R1699:Usp24 UTSW 4 106,296,024 (GRCm39) missense probably damaging 0.99
R1728:Usp24 UTSW 4 106,217,618 (GRCm39) missense possibly damaging 0.85
R1729:Usp24 UTSW 4 106,217,618 (GRCm39) missense possibly damaging 0.85
R1753:Usp24 UTSW 4 106,234,756 (GRCm39) missense probably benign 0.04
R1917:Usp24 UTSW 4 106,267,483 (GRCm39) missense probably damaging 1.00
R2045:Usp24 UTSW 4 106,258,177 (GRCm39) missense possibly damaging 0.54
R2424:Usp24 UTSW 4 106,256,310 (GRCm39) critical splice donor site probably null
R2436:Usp24 UTSW 4 106,266,842 (GRCm39) nonsense probably null
R2513:Usp24 UTSW 4 106,236,602 (GRCm39) splice site probably null
R3824:Usp24 UTSW 4 106,236,263 (GRCm39) missense probably benign
R3831:Usp24 UTSW 4 106,219,209 (GRCm39) critical splice donor site probably null
R3833:Usp24 UTSW 4 106,219,209 (GRCm39) critical splice donor site probably null
R3982:Usp24 UTSW 4 106,245,080 (GRCm39) missense probably benign 0.38
R4022:Usp24 UTSW 4 106,236,421 (GRCm39) splice site probably benign
R4067:Usp24 UTSW 4 106,216,286 (GRCm39) missense possibly damaging 0.68
R4175:Usp24 UTSW 4 106,173,970 (GRCm39) missense probably benign 0.00
R4766:Usp24 UTSW 4 106,273,245 (GRCm39) missense probably damaging 1.00
R4771:Usp24 UTSW 4 106,219,377 (GRCm39) splice site probably null
R4798:Usp24 UTSW 4 106,217,359 (GRCm39) missense possibly damaging 0.82
R4809:Usp24 UTSW 4 106,270,873 (GRCm39) critical splice donor site probably null
R4822:Usp24 UTSW 4 106,273,244 (GRCm39) missense probably damaging 0.98
R4934:Usp24 UTSW 4 106,283,743 (GRCm39) missense probably benign 0.29
R5074:Usp24 UTSW 4 106,277,644 (GRCm39) missense probably benign 0.12
R5151:Usp24 UTSW 4 106,256,309 (GRCm39) critical splice donor site probably null
R5220:Usp24 UTSW 4 106,239,500 (GRCm39) missense possibly damaging 0.69
R5279:Usp24 UTSW 4 106,242,621 (GRCm39) missense possibly damaging 0.94
R5280:Usp24 UTSW 4 106,198,411 (GRCm39) missense probably benign 0.18
R5285:Usp24 UTSW 4 106,264,230 (GRCm39) missense probably benign 0.00
R5292:Usp24 UTSW 4 106,275,460 (GRCm39) missense probably benign 0.06
R5294:Usp24 UTSW 4 106,219,554 (GRCm39) missense possibly damaging 0.53
R5394:Usp24 UTSW 4 106,265,210 (GRCm39) missense probably damaging 1.00
R5517:Usp24 UTSW 4 106,232,871 (GRCm39) missense probably benign 0.02
R5522:Usp24 UTSW 4 106,229,918 (GRCm39) missense probably damaging 1.00
R5546:Usp24 UTSW 4 106,273,244 (GRCm39) missense probably damaging 0.98
R5756:Usp24 UTSW 4 106,219,680 (GRCm39) missense probably damaging 1.00
R5910:Usp24 UTSW 4 106,237,665 (GRCm39) missense probably damaging 0.99
R5972:Usp24 UTSW 4 106,225,264 (GRCm39) missense probably damaging 0.98
R6285:Usp24 UTSW 4 106,231,297 (GRCm39) splice site probably null
R6370:Usp24 UTSW 4 106,237,718 (GRCm39) missense probably null 0.20
R6630:Usp24 UTSW 4 106,245,032 (GRCm39) missense possibly damaging 0.69
R6754:Usp24 UTSW 4 106,217,617 (GRCm39) missense probably damaging 1.00
R7027:Usp24 UTSW 4 106,219,441 (GRCm39) missense probably benign 0.21
R7088:Usp24 UTSW 4 106,244,743 (GRCm39) missense probably damaging 1.00
R7129:Usp24 UTSW 4 106,219,412 (GRCm39) missense probably damaging 1.00
R7131:Usp24 UTSW 4 106,239,500 (GRCm39) missense possibly damaging 0.69
R7156:Usp24 UTSW 4 106,245,116 (GRCm39) critical splice donor site probably null
R7174:Usp24 UTSW 4 106,219,878 (GRCm39) splice site probably null
R7236:Usp24 UTSW 4 106,263,502 (GRCm39) splice site probably null
R7403:Usp24 UTSW 4 106,264,232 (GRCm39) missense possibly damaging 0.79
R7424:Usp24 UTSW 4 106,236,304 (GRCm39) missense probably benign 0.00
R7475:Usp24 UTSW 4 106,199,550 (GRCm39) missense possibly damaging 0.55
R7505:Usp24 UTSW 4 106,236,276 (GRCm39) missense probably damaging 1.00
R7782:Usp24 UTSW 4 106,173,771 (GRCm39) missense probably damaging 1.00
R7900:Usp24 UTSW 4 106,266,597 (GRCm39) missense probably damaging 1.00
R7933:Usp24 UTSW 4 106,285,686 (GRCm39) missense probably benign
R7940:Usp24 UTSW 4 106,287,741 (GRCm39) missense probably damaging 0.98
R8271:Usp24 UTSW 4 106,285,711 (GRCm39) missense probably damaging 0.98
R8348:Usp24 UTSW 4 106,225,933 (GRCm39) missense possibly damaging 0.82
R8448:Usp24 UTSW 4 106,225,933 (GRCm39) missense possibly damaging 0.82
R8483:Usp24 UTSW 4 106,230,953 (GRCm39) missense probably damaging 1.00
R8546:Usp24 UTSW 4 106,259,326 (GRCm39) missense probably benign 0.01
R8798:Usp24 UTSW 4 106,236,436 (GRCm39) missense probably benign 0.00
R8822:Usp24 UTSW 4 106,269,410 (GRCm39) missense probably benign 0.17
R8992:Usp24 UTSW 4 106,234,762 (GRCm39) missense probably benign 0.36
R9002:Usp24 UTSW 4 106,275,412 (GRCm39) missense possibly damaging 0.72
R9037:Usp24 UTSW 4 106,236,251 (GRCm39) missense probably damaging 0.99
R9068:Usp24 UTSW 4 106,232,875 (GRCm39) missense probably benign 0.09
R9096:Usp24 UTSW 4 106,254,508 (GRCm39) missense probably benign 0.00
R9180:Usp24 UTSW 4 106,216,247 (GRCm39) missense possibly damaging 0.71
R9199:Usp24 UTSW 4 106,244,681 (GRCm39) missense probably damaging 1.00
R9201:Usp24 UTSW 4 106,277,727 (GRCm39) missense probably benign 0.36
R9251:Usp24 UTSW 4 106,217,715 (GRCm39) missense probably benign 0.19
R9423:Usp24 UTSW 4 106,288,867 (GRCm39) missense probably damaging 1.00
R9459:Usp24 UTSW 4 106,199,555 (GRCm39) missense probably damaging 1.00
R9472:Usp24 UTSW 4 106,261,128 (GRCm39) missense probably benign 0.00
R9483:Usp24 UTSW 4 106,219,379 (GRCm39) missense probably damaging 0.99
R9534:Usp24 UTSW 4 106,264,312 (GRCm39) missense probably damaging 0.97
R9653:Usp24 UTSW 4 106,204,564 (GRCm39) missense probably benign 0.03
R9712:Usp24 UTSW 4 106,204,564 (GRCm39) missense probably benign 0.03
X0024:Usp24 UTSW 4 106,217,643 (GRCm39) missense probably benign 0.09
X0028:Usp24 UTSW 4 106,225,252 (GRCm39) missense probably benign 0.01
X0066:Usp24 UTSW 4 106,212,928 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- GCCAGCATGTCTTTCTCACAATAC -3'
(R):5'- CTTACAGCTAATTCTTGCCCAATG -3'

Sequencing Primer
(F):5'- AATACCCTTTCCATGCCTCCTTAGAC -3'
(R):5'- GCTATGGAGATTTTTCTACATGGAC -3'
Posted On 2016-04-15