Incidental Mutation 'R9483:Usp24'
ID 716353
Institutional Source Beutler Lab
Gene Symbol Usp24
Ensembl Gene ENSMUSG00000028514
Gene Name ubiquitin specific peptidase 24
Synonyms 2700066K03Rik, 2810030C21Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9483 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 106173410-106298519 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 106219379 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 525 (V525E)
Ref Sequence ENSEMBL: ENSMUSP00000133095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094933] [ENSMUST00000165709]
AlphaFold B1AY13
Predicted Effect probably damaging
Transcript: ENSMUST00000094933
AA Change: V524E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000092538
Gene: ENSMUSG00000028514
AA Change: V524E

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 damaging
Transcript: ENSMUST00000165709
AA Change: V525E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000133095
Gene: ENSMUSG00000028514
AA Change: V525E

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik A T 5: 113,339,010 (GRCm39) M334K probably benign Het
Abca1 A T 4: 53,060,351 (GRCm39) I1525N probably benign Het
Abca4 A T 3: 121,879,275 (GRCm39) I398F Het
Acbd3 A G 1: 180,572,721 (GRCm39) D327G probably benign Het
Acsm3 A G 7: 119,383,166 (GRCm39) T544A probably damaging Het
Atp11a C T 8: 12,901,087 (GRCm39) T972M probably damaging Het
Cbfb C T 8: 105,929,123 (GRCm39) R147* probably null Het
Ccdc17 G T 4: 116,454,144 (GRCm39) R54L probably benign Het
Cracdl T G 1: 37,670,496 (GRCm39) E148A probably damaging Het
Cuedc2 G T 19: 46,319,399 (GRCm39) A223E probably benign Het
Cul5 T C 9: 53,532,474 (GRCm39) I787V probably benign Het
D430041D05Rik T A 2: 104,087,563 (GRCm39) H471L probably benign Het
Ddx39a T C 8: 84,448,916 (GRCm39) Y264H probably benign Het
Dlgap3 C A 4: 127,127,665 (GRCm39) R778S probably damaging Het
Esrrg T C 1: 187,930,848 (GRCm39) V313A probably damaging Het
Fam124a T C 14: 62,844,100 (GRCm39) I536T probably damaging Het
Fbxo21 T C 5: 118,127,272 (GRCm39) F275L possibly damaging Het
Gabrg1 C A 5: 70,999,558 (GRCm39) G2V possibly damaging Het
Gcc1 G T 6: 28,418,089 (GRCm39) A748D probably damaging Het
Gjb6 T C 14: 57,361,511 (GRCm39) D250G probably benign Het
Gm44501 A T 17: 40,889,872 (GRCm39) K129* probably null Het
Hmcn2 T G 2: 31,320,375 (GRCm39) L3952R Het
Hpd A G 5: 123,312,535 (GRCm39) I278T probably damaging Het
Igsf3 T A 3: 101,346,904 (GRCm39) F613Y probably damaging Het
Igsf3 T C 3: 101,346,817 (GRCm39) F584S probably damaging Het
Ik A G 18: 36,886,635 (GRCm39) D369G probably benign Het
Ikbke A G 1: 131,198,719 (GRCm39) L365P probably damaging Het
Il22ra2 A T 10: 19,508,542 (GRCm39) Q190L possibly damaging Het
Itga6 T C 2: 71,679,834 (GRCm39) V1033A probably benign Het
Kif18a T C 2: 109,120,032 (GRCm39) Y112H probably damaging Het
Krt75 T C 15: 101,482,238 (GRCm39) H10R probably benign Het
L3mbtl1 T A 2: 162,790,734 (GRCm39) L93H probably benign Het
Lrfn1 G A 7: 28,158,183 (GRCm39) C34Y probably damaging Het
Lrrc47 A T 4: 154,101,920 (GRCm39) I396F probably damaging Het
Mgat3 T A 15: 80,095,641 (GRCm39) V156E probably benign Het
Mtus2 A G 5: 148,232,300 (GRCm39) D1120G possibly damaging Het
Muc5ac G T 7: 141,365,465 (GRCm39) E2700* probably null Het
Nxpe5 A T 5: 138,228,591 (GRCm39) probably benign Het
Or51v15-ps1 T C 7: 103,278,931 (GRCm39) T79A probably damaging Het
Or5aq6 A T 2: 86,923,390 (GRCm39) M117K possibly damaging Het
Pcdhga4 T A 18: 37,819,746 (GRCm39) S432T possibly damaging Het
Pdk4 T A 6: 5,486,716 (GRCm39) M353L probably benign Het
Ppp1r13b T A 12: 111,800,210 (GRCm39) K645N probably benign Het
Ppt1 A T 4: 122,751,367 (GRCm39) D288V possibly damaging Het
Prkcb A G 7: 122,181,663 (GRCm39) Y417C probably damaging Het
Prss22 A G 17: 24,215,721 (GRCm39) I67T probably damaging Het
Rab29 T C 1: 131,795,508 (GRCm39) V40A possibly damaging Het
Rae1 T C 2: 172,849,941 (GRCm39) probably null Het
Rasa3 C T 8: 13,630,033 (GRCm39) probably null Het
Rasgrp3 A G 17: 75,807,717 (GRCm39) D258G probably benign Het
Rcc1 T A 4: 132,062,808 (GRCm39) T208S probably benign Het
Rgs3 C A 4: 62,575,354 (GRCm39) Y580* probably null Het
Rpe65 C T 3: 159,328,318 (GRCm39) P405S probably damaging Het
Rsf1 GGCGGC GGCGGCGGCAGCGGC 7: 97,229,137 (GRCm39) probably benign Het
Rsph4a A G 10: 33,790,418 (GRCm39) E669G probably damaging Het
Rusc1 A T 3: 88,994,113 (GRCm39) V964E probably benign Het
Rusc2 A G 4: 43,415,897 (GRCm39) N401S probably damaging Het
Slc10a1 G T 12: 81,002,864 (GRCm39) T258K probably damaging Het
Slc5a9 A G 4: 111,747,418 (GRCm39) L323P probably damaging Het
Slc6a17 T A 3: 107,378,772 (GRCm39) I637F possibly damaging Het
Slc8a2 A G 7: 15,886,780 (GRCm39) E641G possibly damaging Het
Sptbn2 G T 19: 4,789,974 (GRCm39) A1321S probably damaging Het
Ssh2 G T 11: 77,283,976 (GRCm39) A77S possibly damaging Het
St13 G T 15: 81,250,587 (GRCm39) N316K probably damaging Het
Taf10 A G 7: 105,393,062 (GRCm39) M121T probably benign Het
Tcta T C 9: 108,182,942 (GRCm39) T68A probably damaging Het
Timd2 A T 11: 46,577,889 (GRCm39) Y81N probably damaging Het
Tln2 T C 9: 67,299,769 (GRCm39) E161G probably damaging Het
Tmed10 T C 12: 85,397,621 (GRCm39) I123V probably benign Het
Ttf1 T C 2: 28,969,492 (GRCm39) probably null Het
Tubg1 A G 11: 101,016,886 (GRCm39) D396G probably damaging Het
Uhmk1 A G 1: 170,034,913 (GRCm39) probably null Het
Unc13a C T 8: 72,103,221 (GRCm39) A922T probably benign Het
Usp28 C A 9: 48,947,037 (GRCm39) Q823K probably damaging Het
Vldlr A T 19: 27,224,031 (GRCm39) I764F probably benign Het
Vmn2r88 T C 14: 51,648,641 (GRCm39) Y62H Het
Zfp423 T A 8: 88,507,725 (GRCm39) N873I possibly 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
R4906:Usp24 UTSW 4 106,245,834 (GRCm39) missense probably benign 0.20
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
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'- CAGCTGTGAAGTTTAATGCAGAC -3'
(R):5'- GCTCCCAGAGGACATCTAAC -3'

Sequencing Primer
(F):5'- GCAGACCAGCTTAATCATTTGTTCG -3'
(R):5'- CACCTGAAATAGCACCAGATGATGAG -3'
Posted On 2022-07-18