Incidental Mutation 'R7782:Usp24'
ID 599283
Institutional Source Beutler Lab
Gene Symbol Usp24
Ensembl Gene ENSMUSG00000028514
Gene Name ubiquitin specific peptidase 24
Synonyms 2700066K03Rik, 2810030C21Rik
MMRRC Submission 045838-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7782 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 106173410-106298519 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 106173771 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 35 (N35Y)
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: N35Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000092538
Gene: ENSMUSG00000028514
AA Change: N35Y

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: N35Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000133095
Gene: ENSMUSG00000028514
AA Change: N35Y

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
Meta Mutation Damage Score 0.2233 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (80/80)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933415A04Rik GTGTGTGTATGTGTGT GTGTGTGT 11: 43,478,239 (GRCm39) probably null Het
Adamts16 A G 13: 70,984,265 (GRCm39) S133P probably damaging Het
Adamts17 T C 7: 66,774,802 (GRCm39) W1001R probably damaging Het
Aox4 T A 1: 58,270,251 (GRCm39) probably null Het
B4galnt4 C T 7: 140,644,988 (GRCm39) P221S probably damaging Het
BC005537 C T 13: 24,987,382 (GRCm39) R7W possibly damaging Het
BC034090 T C 1: 155,108,410 (GRCm39) probably benign Het
Best2 T A 8: 85,736,143 (GRCm39) D312V probably damaging Het
Bod1l A T 5: 41,975,286 (GRCm39) D2009E probably benign Het
Ccdc158 A C 5: 92,793,373 (GRCm39) S672A probably benign Het
Ccdc43 A T 11: 102,588,443 (GRCm39) L31Q probably damaging Het
Cdcp3 G A 7: 130,904,466 (GRCm39) probably null Het
Chaf1a T G 17: 56,369,291 (GRCm39) H507Q probably benign Het
Clptm1l A G 13: 73,752,439 (GRCm39) Y28C probably damaging Het
Cp G A 3: 20,029,223 (GRCm39) probably null Het
Crocc C T 4: 140,752,597 (GRCm39) A1432T probably benign Het
Crybg2 A G 4: 133,801,137 (GRCm39) T457A probably benign Het
Csnk2a1-ps3 C T 1: 156,352,552 (GRCm39) T251I probably damaging Het
Dennd4a A G 9: 64,814,202 (GRCm39) D1473G probably damaging Het
Diaph3 A G 14: 87,274,940 (GRCm39) F172S probably benign Het
Dnajc5b A G 3: 19,629,006 (GRCm39) N100S probably benign Het
Dusp13b G A 14: 21,791,404 (GRCm39) T16I possibly damaging Het
Epb42 T G 2: 120,864,916 (GRCm39) K58N probably benign Het
Fat1 A G 8: 45,403,948 (GRCm39) Y233C probably damaging Het
Fcgbp T A 7: 27,784,460 (GRCm39) Y173* probably null Het
Fign T A 2: 63,809,506 (GRCm39) D588V probably damaging Het
Fignl2 C T 15: 100,951,188 (GRCm39) V365M unknown Het
Fnip2 A C 3: 79,415,430 (GRCm39) Y203D probably benign Het
Ftsj3 CCTTCTTCTTCTTCTTCT CCTTCTTCTTCTTCT 11: 106,143,377 (GRCm39) probably benign Het
Gfral C A 9: 76,100,572 (GRCm39) V289L probably benign Het
H2bc21 T A 3: 96,128,487 (GRCm39) probably null Het
Heatr5b G T 17: 79,103,370 (GRCm39) T1161K probably damaging Het
Hectd4 A T 5: 121,443,784 (GRCm39) I1335F possibly damaging Het
Htt T A 5: 35,040,336 (GRCm39) V2166D probably benign Het
Ipo5 G C 14: 121,170,537 (GRCm39) K436N possibly damaging Het
Iqca1l A G 5: 24,749,224 (GRCm39) L758P probably damaging Het
Itga6 A G 2: 71,671,879 (GRCm39) E794G probably damaging Het
Itga9 G A 9: 118,672,712 (GRCm39) C148Y Het
Kcnip2 A C 19: 45,785,524 (GRCm39) probably null Het
Kcnk6 T C 7: 28,925,269 (GRCm39) T116A possibly damaging Het
Kctd21 A G 7: 96,997,297 (GRCm39) I257V probably benign Het
Kif19a G A 11: 114,672,748 (GRCm39) R299Q probably damaging Het
Kifc2 G A 15: 76,548,328 (GRCm39) G391R probably benign Het
Klrg2 A G 6: 38,604,562 (GRCm39) V381A possibly damaging Het
Mob1b A G 5: 88,897,542 (GRCm39) probably null Het
Or13p8 T C 4: 118,584,106 (GRCm39) Y221H probably damaging Het
Or6c69 T G 10: 129,747,392 (GRCm39) S252R probably damaging Het
Or6c75 T C 10: 129,337,020 (GRCm39) V81A probably benign Het
Or7c70 T C 10: 78,683,447 (GRCm39) I101V probably benign Het
Oxsm C A 14: 16,240,925 (GRCm38) A375S possibly damaging Het
Pcdha3 T C 18: 37,081,193 (GRCm39) V645A probably damaging Het
Pcdhb15 T A 18: 37,607,788 (GRCm39) V340E possibly damaging Het
Pced1a G A 2: 130,264,435 (GRCm39) P132S probably damaging Het
Pla2r1 C T 2: 60,334,531 (GRCm39) V414M probably benign Het
Plekhg4 A C 8: 106,104,399 (GRCm39) I493L probably benign Het
Plekhj1 T A 10: 80,634,179 (GRCm39) probably benign Het
Pmfbp1 G T 8: 110,254,412 (GRCm39) K482N probably damaging Het
Ppil3 T C 1: 58,473,574 (GRCm39) N92S probably benign Het
Ppt2 A G 17: 34,844,686 (GRCm39) S156P probably benign Het
Prss41 A T 17: 24,056,087 (GRCm39) D255E probably benign Het
Psg25 T A 7: 18,255,227 (GRCm39) M430L probably benign Het
Rffl A T 11: 82,703,595 (GRCm39) C109* probably null Het
Rock2 A G 12: 17,021,111 (GRCm39) E991G probably benign Het
Rpap2 A G 5: 107,768,058 (GRCm39) I299V probably benign Het
Rras T C 7: 44,670,529 (GRCm39) S158P probably benign Het
Serpinb10 G A 1: 107,463,196 (GRCm39) probably benign Het
Smyd3 A T 1: 178,799,859 (GRCm39) I360N possibly damaging Het
Synm A G 7: 67,384,714 (GRCm39) S541P probably damaging Het
Tasor A G 14: 27,193,901 (GRCm39) T1034A probably benign Het
Tbc1d31 C A 15: 57,821,764 (GRCm39) T813K possibly damaging Het
Trav7n-4 A G 14: 53,329,103 (GRCm39) M38V probably benign Het
Tulp3 A C 6: 128,301,943 (GRCm39) N359K possibly damaging Het
Twf1 T C 15: 94,480,654 (GRCm39) K196E probably benign Het
Usp46 T A 5: 74,162,772 (GRCm39) E342D probably benign Het
Vps50 T A 6: 3,532,202 (GRCm39) probably null Het
Vps8 T A 16: 21,330,308 (GRCm39) I727N possibly damaging Het
Wdr90 C T 17: 26,065,300 (GRCm39) R1652Q probably damaging Het
Zfp11 A T 5: 129,734,027 (GRCm39) V478E possibly damaging Het
Zfp493 A G 13: 67,935,123 (GRCm39) K359E probably benign Het
Zfp536 T C 7: 37,268,126 (GRCm39) Y430C probably damaging Het
Zfpm1 A G 8: 123,063,689 (GRCm39) D916G unknown 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
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'- CGGCCTGGGAGAAACACAC -3'
(R):5'- AAAAGTCCCGCTGCGAGC -3'

Sequencing Primer
(F):5'- GGGAGAAACACACACGCGTC -3'
(R):5'- TGGCAACGCTCCCTGTC -3'
Posted On 2019-11-26