Incidental Mutation 'IGL00655:Usp24'
ID 14736
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp24
Ensembl Gene ENSMUSG00000028514
Gene Name ubiquitin specific peptidase 24
Synonyms 2700066K03Rik, 2810030C21Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00655
Quality Score
Status
Chromosome 4
Chromosomal Location 106173410-106298519 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106247515 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1414 (T1414A)
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: T1413A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000092538
Gene: ENSMUSG00000028514
AA Change: T1413A

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: T1414A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000133095
Gene: ENSMUSG00000028514
AA Change: T1414A

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
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: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat2 G A 4: 49,383,250 (GRCm39) P101L probably damaging Het
Akap13 A G 7: 75,354,146 (GRCm39) K1756E probably damaging Het
Anp32a T A 9: 62,278,994 (GRCm39) probably benign Het
Cenpe T C 3: 134,937,216 (GRCm39) probably null Het
Fam114a2 T A 11: 57,378,413 (GRCm39) I451F probably damaging Het
Fbxw22 T C 9: 109,211,312 (GRCm39) probably benign Het
Fndc3b C T 3: 27,592,161 (GRCm39) G246R probably benign Het
Gcc1 C T 6: 28,421,197 (GRCm39) R40H possibly damaging Het
Lig4 A T 8: 10,023,305 (GRCm39) N158K probably benign Het
Nxph2 A G 2: 23,290,153 (GRCm39) I168M possibly damaging Het
Ropn1 G T 16: 34,498,790 (GRCm39) G193C probably damaging Het
Tnni3k T A 3: 154,760,192 (GRCm39) I48F probably benign Het
Tuft1 T A 3: 94,530,091 (GRCm39) E184D 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
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
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
Posted On 2012-12-06