Mutagenetix > Incidental Mutation

Incidental Mutation 'R5546:Usp24'

436273

Institutional Source

Beutler Lab

Gene Symbol

Usp24

Ensembl Gene

ENSMUSG00000028514

Gene Name

ubiquitin specific peptidase 24

Synonyms

2700066K03Rik, 2810030C21Rik

MMRRC Submission

043104-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5546 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106173410-106298519 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106273244 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 2210 (Y2210N)

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: Y2209N

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000092538
Gene: ENSMUSG00000028514
AA Change: Y2209N

Domain	Start	End	E-Value	Type
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: Y2210N

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133095
Gene: ENSMUSG00000028514
AA Change: Y2210N

Domain	Start	End	E-Value	Type
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

0.3145

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.5%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	A	G	9: 107,806,832 (GRCm39)	N385S	probably benign	Het
Ahctf1	A	T	1: 179,581,633 (GRCm39)	I1523N	probably benign	Het
Akna	C	T	4: 63,313,196 (GRCm39)	G309E	probably benign	Het
Akna	T	C	4: 63,313,803 (GRCm39)	N107D	probably benign	Het
Arhgef15	G	A	11: 68,844,877 (GRCm39)	P240L	probably benign	Het
Brd1	T	A	15: 88,585,325 (GRCm39)	E836D	probably benign	Het
Brf2	A	G	8: 27,614,311 (GRCm39)	S292P	possibly damaging	Het
C3	A	G	17: 57,529,976 (GRCm39)	L500P	probably damaging	Het
Cblif	T	C	19: 11,725,859 (GRCm39)	S50P	possibly damaging	Het
Ccdc107	T	C	4: 43,495,685 (GRCm39)	L196P	probably damaging	Het
Cdcp1	G	T	9: 123,007,094 (GRCm39)	P551Q	probably damaging	Het
Ckap5	T	C	2: 91,425,161 (GRCm39)	L1224P	probably damaging	Het
Csnk1g2	C	A	10: 80,474,232 (GRCm39)	T178K	probably benign	Het
Ctsq	A	T	13: 61,185,702 (GRCm39)	C146*	probably null	Het
Cyp2ab1	T	A	16: 20,132,507 (GRCm39)	I264F	probably damaging	Het
Daxx	TGATGATGACGATGATGACGATGATGA	TGATGATGACGATGATGA	17: 34,131,615 (GRCm39)		probably benign	Het
Dnah11	G	A	12: 117,939,583 (GRCm39)	T3179M	possibly damaging	Het
Dnah7c	A	T	1: 46,705,477 (GRCm39)	T2497S	probably damaging	Het
Eif4enif1	T	C	11: 3,193,989 (GRCm39)	V776A	probably damaging	Het
Erbb4	G	T	1: 68,337,452 (GRCm39)	T622N	probably damaging	Het
Erich6	A	G	3: 58,526,218 (GRCm39)	Y595H	probably benign	Het
Fam107a	C	T	14: 8,298,764 (GRCm38)	A121T	probably benign	Het
Gpatch11	C	T	17: 79,149,548 (GRCm39)	Q183*	probably null	Het
Gpr161	C	A	1: 165,133,982 (GRCm39)	F81L	possibly damaging	Het
Hook1	G	T	4: 95,890,765 (GRCm39)	E291D	probably benign	Het
Hsf2bp	T	A	17: 32,165,669 (GRCm39)	I309F	probably damaging	Het
Hspg2	T	C	4: 137,275,485 (GRCm39)		probably null	Het
Ide	T	G	19: 37,249,623 (GRCm39)	M910L	unknown	Het
Igdcc4	A	G	9: 65,036,077 (GRCm39)	Y712C	probably damaging	Het
Kmt2d	T	C	15: 98,750,949 (GRCm39)		probably benign	Het
Lats1	T	C	10: 7,581,518 (GRCm39)	Y768H	probably damaging	Het
Mageb3	A	G	2: 121,784,868 (GRCm39)	V278A	probably damaging	Het
Mapkbp1	G	A	2: 119,849,724 (GRCm39)	R732H	probably damaging	Het
Marveld2	T	C	13: 100,737,446 (GRCm39)	I148V	probably benign	Het
Mast1	G	C	8: 85,642,889 (GRCm39)	P969A	probably damaging	Het
Myh10	T	G	11: 68,689,206 (GRCm39)	V1261G	possibly damaging	Het
Nlrp1b	A	T	11: 71,108,102 (GRCm39)	H466Q	probably benign	Het
Npr2	T	G	4: 43,650,150 (GRCm39)	V905G	probably damaging	Het
Oip5	T	A	2: 119,440,808 (GRCm39)	I240F	unknown	Het
Or4c12	A	G	2: 89,773,929 (GRCm39)	C177R	probably damaging	Het
Or5k8	G	T	16: 58,644,516 (GRCm39)	Y185*	probably null	Het
Or8b12	T	A	9: 37,657,820 (GRCm39)	M130K	probably benign	Het
Pcsk2	G	A	2: 143,388,480 (GRCm39)	A24T	probably benign	Het
Plxnb1	G	T	9: 108,929,818 (GRCm39)	G225W	probably damaging	Het
Polr1a	T	C	6: 71,906,350 (GRCm39)	S389P	possibly damaging	Het
Prkca	A	G	11: 107,944,806 (GRCm39)	V175A	probably benign	Het
Rassf7	C	A	7: 140,796,973 (GRCm39)		probably null	Het
Rbl2	A	G	8: 91,805,560 (GRCm39)	I206V	probably benign	Het
Rnf111	A	T	9: 70,366,378 (GRCm39)	H353Q	probably benign	Het
Rpn1	T	G	6: 88,070,841 (GRCm39)	V237G	probably damaging	Het
Sec61a2	T	A	2: 5,881,351 (GRCm39)	I267F	possibly damaging	Het
Spop	G	T	11: 95,376,669 (GRCm39)	V241F	probably damaging	Het
Sptbn2	C	T	19: 4,775,978 (GRCm39)	A178V	probably damaging	Het
Stard13	A	G	5: 150,969,366 (GRCm39)	Y791H	probably benign	Het
Susd2	T	A	10: 75,478,052 (GRCm39)	I113L	probably benign	Het
Tcof1	T	C	18: 60,964,628 (GRCm39)	E666G	possibly damaging	Het
Tekt5	G	T	16: 10,179,254 (GRCm39)	A371E	possibly damaging	Het
Thap11	G	A	8: 106,582,548 (GRCm39)	E186K	probably damaging	Het
Tk2	A	T	8: 104,974,315 (GRCm39)	D45E	possibly damaging	Het
Tuba8	C	A	6: 121,199,872 (GRCm39)	Y185*	probably null	Het
Wfdc8	A	T	2: 164,439,239 (GRCm39)		probably benign	Het
Zar1l	T	C	5: 150,436,365 (GRCm39)	N237S	probably damaging	Het
Zfp607b	A	T	7: 27,402,032 (GRCm39)	T163S	probably benign	Het
Zfp619	C	A	7: 39,184,577 (GRCm39)	H202Q	probably benign	Het

Other mutations in Usp24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- TTGTTGATCCTGGCCACTG -3'
(R):5'- ACCCTTGCCAGAGTCTAGTTC -3'

Sequencing Primer
(F):5'- CACTGGGATCGCTAGGTAGAC -3'
(R):5'- CCAGAGTCTAGTTCGGCAGATG -3'

Posted On

2016-10-24