Mutagenetix > Incidental Mutation

Incidental Mutation 'R7236:Usp24'

574608

Institutional Source

Beutler Lab

Gene Symbol

Usp24

Ensembl Gene

ENSMUSG00000028514

Gene Name

ubiquitin specific peptidase 24

Synonyms

2700066K03Rik, 2810030C21Rik

MMRRC Submission

045306-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7236 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106173410-106298519 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 106263502 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

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 null
Transcript: ENSMUST00000165709

SMART Domains

Protein: ENSMUSP00000133095
Gene: ENSMUSG00000028514

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (66/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn3	C	T	19: 4,921,644 (GRCm39)	V179I	probably benign	Het
Adra1b	A	G	11: 43,667,151 (GRCm39)	I362T	possibly damaging	Het
B3galnt1	T	C	3: 69,482,950 (GRCm39)	K104E	probably benign	Het
Bnc2	T	C	4: 84,474,101 (GRCm39)	Y15C	probably benign	Het
C2cd2l	C	A	9: 44,228,960 (GRCm39)	A124S	possibly damaging	Het
Camsap3	T	A	8: 3,654,116 (GRCm39)	F595L	probably damaging	Het
Cct2	A	T	10: 116,897,464 (GRCm39)	D93E	probably benign	Het
Cd200l2	A	T	16: 45,348,030 (GRCm39)	I169N	possibly damaging	Het
Cemip	A	T	7: 83,598,012 (GRCm39)		probably null	Het
Ciapin1	T	C	8: 95,550,338 (GRCm39)	T34A		Het
Dop1a	G	A	9: 86,397,431 (GRCm39)	V912I	probably damaging	Het
Efcab3	A	T	11: 104,790,093 (GRCm39)	Q2832L	probably benign	Het
Eif3c	T	C	7: 126,151,495 (GRCm39)	T610A	possibly damaging	Het
Ephb3	A	G	16: 21,033,231 (GRCm39)	R106G	probably damaging	Het
Ephx3	T	A	17: 32,404,328 (GRCm39)		probably null	Het
Etv2	A	T	7: 30,334,455 (GRCm39)	S93T	probably benign	Het
Fbxo34	T	A	14: 47,767,841 (GRCm39)	D451E	probably benign	Het
Fmo9	A	G	1: 166,504,140 (GRCm39)	F141L	probably damaging	Het
Fryl	T	C	5: 73,265,821 (GRCm39)	K500R	possibly damaging	Het
Gfra3	T	C	18: 34,828,884 (GRCm39)	D170G	probably damaging	Het
Gnptg	T	C	17: 25,458,897 (GRCm39)	N34S	possibly damaging	Het
Golga5	T	A	12: 102,441,034 (GRCm39)		probably null	Het
Herc2	G	T	7: 55,734,828 (GRCm39)	L139F	probably benign	Het
Ikzf2	T	A	1: 69,578,240 (GRCm39)	N423I	probably benign	Het
Il31ra	A	T	13: 112,660,439 (GRCm39)	*717R	probably null	Het
Itga2	G	T	13: 115,014,227 (GRCm39)	Q234K	probably benign	Het
Kcnt1	A	T	2: 25,799,951 (GRCm39)		probably null	Het
Kif19b	G	T	5: 140,457,400 (GRCm39)	A390S	probably benign	Het
Man2a2	T	C	7: 80,018,653 (GRCm39)	S69G	probably damaging	Het
Mccc1	A	G	3: 36,037,944 (GRCm39)	V294A	probably benign	Het
Mphosph8	T	A	14: 56,911,754 (GRCm39)	I259K	possibly damaging	Het
Mrpl15	A	T	1: 4,846,711 (GRCm39)	N288K	probably benign	Het
Msantd2	T	C	9: 37,400,965 (GRCm39)	W116R	probably damaging	Het
Msantd5f9	G	T	4: 73,835,808 (GRCm39)	L219M	probably benign	Het
Mtmr10	T	C	7: 63,963,932 (GRCm39)		probably benign	Het
Mylk	A	T	16: 34,742,899 (GRCm39)	D1137V	probably damaging	Het
Nhsl1	A	G	10: 18,401,512 (GRCm39)	K879E	probably damaging	Het
Or8j3c	A	T	2: 86,253,533 (GRCm39)	C162*	probably null	Het
Pak6	A	G	2: 118,523,909 (GRCm39)	T355A	probably benign	Het
Patj	C	T	4: 98,299,294 (GRCm39)	R139C	probably damaging	Het
Pcdhb3	C	T	18: 37,434,505 (GRCm39)	A157V	probably damaging	Het
Phkg1	C	A	5: 129,895,802 (GRCm39)	D150Y	probably damaging	Het
Ppp2r5c	C	T	12: 110,432,323 (GRCm39)	S45L	probably benign	Het
Prl4a1	A	C	13: 28,202,556 (GRCm39)	T44P	probably benign	Het
Ptpro	G	A	6: 137,345,335 (GRCm39)	V114M	probably damaging	Het
Pwp1	A	G	10: 85,715,147 (GRCm39)	N211S	probably benign	Het
Ralgapb	A	G	2: 158,282,747 (GRCm39)	D504G	probably benign	Het
Rock2	A	T	12: 16,979,003 (GRCm39)	I98F	probably damaging	Het
Senp6	G	T	9: 80,040,247 (GRCm39)	V785L	probably damaging	Het
Simc1	A	G	13: 54,672,609 (GRCm39)	D319G	probably benign	Het
Tas2r105	A	T	6: 131,663,723 (GRCm39)	I235N	probably damaging	Het
Tas2r110	A	T	6: 132,845,667 (GRCm39)	M233L	possibly damaging	Het
Tmem260	C	T	14: 48,746,647 (GRCm39)		probably null	Het
Trank1	G	T	9: 111,202,142 (GRCm39)	V1590L	possibly damaging	Het
Tsc2	A	T	17: 24,842,568 (GRCm39)	M286K	possibly damaging	Het
Ttn	T	C	2: 76,697,796 (GRCm39)	T202A		Het
Ttyh1	A	G	7: 4,136,663 (GRCm39)	N424D	probably benign	Het
Utp20	G	T	10: 88,585,204 (GRCm39)	P2620Q	probably benign	Het
Vmn1r45	A	G	6: 89,910,133 (GRCm39)	M279T	probably benign	Het
Vmn2r115	T	A	17: 23,578,576 (GRCm39)	I683K	probably benign	Het
Vmn2r34	T	C	7: 7,684,750 (GRCm39)	K481E	probably damaging	Het
Vmn2r54	T	A	7: 12,365,917 (GRCm39)	H339L	possibly damaging	Het
Vmn2r94	T	A	17: 18,477,811 (GRCm39)	N200I	possibly damaging	Het
Wdfy3	A	G	5: 101,984,074 (GRCm39)	Y3493H	probably damaging	Het
Wdr5b	A	G	16: 35,862,208 (GRCm39)	D109G	possibly damaging	Het
Zfp286	A	T	11: 62,674,496 (GRCm39)		probably null	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
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
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'- CATCGCTGTGTAGTAGGCATC -3'
(R):5'- TGGAAGACCGCATTCATGTAAC -3'

Sequencing Primer
(F):5'- CAACCACATTGTAAGCTCTTGGGAG -3'
(R):5'- GCATTCATGTAACAAGTAGCGC -3'

Posted On

2019-09-23