Incidental Mutation 'R7156:Usp24'
ID 557287
Institutional Source Beutler Lab
Gene Symbol Usp24
Ensembl Gene ENSMUSG00000028514
Gene Name ubiquitin specific peptidase 24
Synonyms 2700066K03Rik, 2810030C21Rik
MMRRC Submission 045257-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7156 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 106173410-106298519 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to T at 106245116 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094933] [ENSMUST00000165709]
AlphaFold B1AY13
Predicted Effect probably null
Transcript: ENSMUST00000094933
SMART Domains Protein: ENSMUSP00000092538
Gene: ENSMUSG00000028514

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 null
Transcript: ENSMUST00000165709
SMART Domains Protein: ENSMUSP00000133095
Gene: ENSMUSG00000028514

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: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (81/81)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik T C 7: 40,643,282 (GRCm39) I317T possibly damaging Het
Acsl5 G A 19: 55,257,260 (GRCm39) probably null Het
Ahrr G A 13: 74,378,035 (GRCm39) T136I probably damaging Het
AI597479 G A 1: 43,150,261 (GRCm39) D124N probably damaging Het
Arap2 G T 5: 62,761,914 (GRCm39) A1604D probably damaging Het
Bcl6 G A 16: 23,784,976 (GRCm39) R675* probably null Het
Cadps2 T C 6: 23,688,955 (GRCm39) N118S probably benign Het
Caskin1 T A 17: 24,719,657 (GRCm39) probably null Het
Cc2d1a C T 8: 84,862,389 (GRCm39) V684M possibly damaging Het
Ccdc91 T C 6: 147,435,676 (GRCm39) S87P possibly damaging Het
Cdr2l A G 11: 115,281,792 (GRCm39) Q99R probably benign Het
Celsr3 T C 9: 108,715,203 (GRCm39) L2066P possibly damaging Het
Cep95 A C 11: 106,700,050 (GRCm39) L313F possibly damaging Het
Chst10 G A 1: 38,913,088 (GRCm39) T63M probably damaging Het
Clrn2 G A 5: 45,611,258 (GRCm39) G36R probably damaging Het
Cnn2 T G 10: 79,830,349 (GRCm39) Y273* probably null Het
Crtap T C 9: 114,207,164 (GRCm39) T365A probably benign Het
D630045J12Rik T C 6: 38,171,964 (GRCm39) T735A possibly damaging Het
Disp2 C T 2: 118,622,292 (GRCm39) A1008V probably damaging Het
Dmrt3 A G 19: 25,588,317 (GRCm39) D52G probably damaging Het
Dmrta1 T G 4: 89,576,700 (GRCm39) L52R probably damaging Het
Dmrta2 A G 4: 109,839,185 (GRCm39) T311A probably damaging Het
Dnm1 T A 2: 32,230,479 (GRCm39) N112Y probably damaging Het
Dysf T C 6: 84,064,858 (GRCm39) probably null Het
Ep400 A G 5: 110,833,229 (GRCm39) F2034L unknown Het
F12 G A 13: 55,566,310 (GRCm39) A494V probably damaging Het
Fbp2 A T 13: 62,989,675 (GRCm39) F210L probably benign Het
Fbxo31 T A 8: 122,281,060 (GRCm39) Q362L possibly damaging Het
Fkbp4 C T 6: 128,412,787 (GRCm39) A95T probably benign Het
Frmd6 T G 12: 70,923,983 (GRCm39) C80W probably damaging Het
Fsip2 A G 2: 82,813,085 (GRCm39) I3135V probably benign Het
Garre1 G T 7: 33,945,133 (GRCm39) N582K possibly damaging Het
Guca2b T A 4: 119,514,887 (GRCm39) E34V probably damaging Het
Hdlbp G A 1: 93,341,637 (GRCm39) T974I probably damaging Het
Hsdl2 T A 4: 59,617,653 (GRCm39) M460K possibly damaging Het
Ift172 C T 5: 31,429,419 (GRCm39) V581M probably damaging Het
Ift74 A G 4: 94,549,189 (GRCm39) K313R possibly damaging Het
Ints4 T A 7: 97,184,493 (GRCm39) probably null Het
Iqca1l C T 5: 24,757,648 (GRCm39) E150K probably benign Het
Kif21b A C 1: 136,075,562 (GRCm39) T230P probably damaging Het
Kit A T 5: 75,776,034 (GRCm39) Y272F probably benign Het
Krt77 G A 15: 101,773,931 (GRCm39) T241M probably benign Het
Lce1j T A 3: 92,696,491 (GRCm39) S96C unknown Het
Marveld3 T A 8: 110,674,820 (GRCm39) D332V probably damaging Het
Matr3 G T 18: 35,705,974 (GRCm39) V300F probably damaging Het
Mical1 T A 10: 41,361,253 (GRCm39) probably null Het
Mslnl T A 17: 25,962,184 (GRCm39) V194E probably benign Het
Mug1 C A 6: 121,857,864 (GRCm39) T1119K probably damaging Het
Mug1 C T 6: 121,861,302 (GRCm39) P1308S probably damaging Het
Neb C A 2: 52,195,295 (GRCm39) probably null Het
Neo1 T A 9: 58,810,206 (GRCm39) T1082S probably damaging Het
Nkx6-2 C T 7: 139,162,045 (GRCm39) probably null Het
Or10g6 T C 9: 39,934,526 (GRCm39) I279T probably benign Het
Or8k27 T A 2: 86,275,652 (GRCm39) I225L probably damaging Het
Orc1 A T 4: 108,452,656 (GRCm39) E177V probably benign Het
Parp1 G A 1: 180,426,629 (GRCm39) V924I possibly damaging Het
Pax2 A T 19: 44,777,298 (GRCm39) I165F probably benign Het
Pnma2 C T 14: 67,153,980 (GRCm39) P135S probably benign Het
Ranbp17 A G 11: 33,247,420 (GRCm39) I718T probably damaging Het
Rbm25 T A 12: 83,710,965 (GRCm39) D359E unknown Het
Rgs3 T C 4: 62,535,363 (GRCm39) L194P probably damaging Het
Serpinb6b A G 13: 33,155,598 (GRCm39) I104V probably benign Het
Smg9 A G 7: 24,120,286 (GRCm39) D420G probably benign Het
Smpd1 C T 7: 105,203,693 (GRCm39) probably benign Het
Snx17 T A 5: 31,354,692 (GRCm39) M318K probably damaging Het
Spata31e5 A T 1: 28,815,848 (GRCm39) M728K possibly damaging Het
Stard10 G A 7: 100,995,258 (GRCm39) D337N probably damaging Het
Tex14 A G 11: 87,375,545 (GRCm39) T103A probably damaging Het
Tle1 A G 4: 72,088,953 (GRCm39) S97P probably benign Het
Tnfrsf8 T A 4: 145,041,654 (GRCm39) M1L unknown Het
Traf3ip2 T C 10: 39,502,173 (GRCm39) L107P possibly damaging Het
Trpc7 A T 13: 56,937,579 (GRCm39) S626T possibly damaging Het
Ubl7 T A 9: 57,837,039 (GRCm39) I350N probably damaging Het
Ubr3 T A 2: 69,851,967 (GRCm39) I1878N probably damaging Het
Vcan A T 13: 89,837,229 (GRCm39) S2772T possibly damaging Het
Vmn2r79 T C 7: 86,686,851 (GRCm39) V744A probably damaging Het
Wbp2nl T C 15: 82,189,903 (GRCm39) S32P probably damaging Het
Wwc1 A G 11: 35,788,201 (GRCm39) probably null Het
Zfp629 C T 7: 127,211,463 (GRCm39) W115* probably null 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
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'- GGACAGACAATGCCAACATCATTAG -3'
(R):5'- TACTGCTGAGACCACGGAAG -3'

Sequencing Primer
(F):5'- TTAGATGAAGACCTCACCAAAGATG -3'
(R):5'- CACGGAAGGCGGTGTTTC -3'
Posted On 2019-06-26