Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01981:Usp24'

183512

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 #

IGL01981

Quality Score

Status

Chromosome

Chromosomal Location

106173410-106298519 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 106232965 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 benign
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 benign
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

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt2	A	C	7: 27,337,499 (GRCm39)	D417A	probably benign	Het
Ap1b1	T	A	11: 4,969,336 (GRCm39)	S231T	possibly damaging	Het
Arhgap31	G	A	16: 38,421,935 (GRCm39)	T1377I	probably damaging	Het
Cdkl3	A	G	11: 51,895,896 (GRCm39)	T48A	probably benign	Het
Chd3	T	C	11: 69,251,501 (GRCm39)	Y510C	probably damaging	Het
Chml	A	G	1: 175,515,751 (GRCm39)	S57P	probably damaging	Het
Cpxm1	G	T	2: 130,236,060 (GRCm39)	C367*	probably null	Het
D930020B18Rik	A	G	10: 121,528,319 (GRCm39)	T428A	probably damaging	Het
Dnaja3	A	T	16: 4,519,033 (GRCm39)	I325F	probably damaging	Het
Efcab3	A	T	11: 104,612,258 (GRCm39)		probably benign	Het
Erbb3	A	G	10: 128,407,519 (GRCm39)	V943A	probably benign	Het
Fam110b	A	G	4: 5,799,481 (GRCm39)	I300V	probably benign	Het
Fam193a	A	G	5: 34,588,537 (GRCm39)	E76G	probably damaging	Het
Fbxl3	G	A	14: 103,332,900 (GRCm39)	T26M	possibly damaging	Het
Furin	A	G	7: 80,042,647 (GRCm39)	L380P	probably damaging	Het
Fxr2	A	C	11: 69,541,328 (GRCm39)	I354L	possibly damaging	Het
Garnl3	G	T	2: 32,887,741 (GRCm39)	N756K	probably damaging	Het
Gimap1	A	G	6: 48,720,258 (GRCm39)	Y290C	probably damaging	Het
Gm5592	G	A	7: 40,935,795 (GRCm39)	W99*	probably null	Het
Hexd	G	T	11: 121,107,819 (GRCm39)	S183I	possibly damaging	Het
Hmg20a	C	T	9: 56,384,514 (GRCm39)	P95S	probably damaging	Het
Jhy	A	T	9: 40,806,842 (GRCm39)	I769N	probably damaging	Het
Lrrd1	G	T	5: 3,901,267 (GRCm39)	C524F	probably damaging	Het
Musk	C	A	4: 58,296,629 (GRCm39)	S76R	probably damaging	Het
Myom3	C	T	4: 135,513,160 (GRCm39)	R613*	probably null	Het
Naa16	T	A	14: 79,618,956 (GRCm39)	E172D	probably benign	Het
Obox6	A	T	7: 15,568,846 (GRCm39)	M10K	possibly damaging	Het
Or5al5	A	T	2: 85,961,174 (GRCm39)	Y278N	probably benign	Het
Pam	C	T	1: 97,762,166 (GRCm39)	V700M	probably damaging	Het
Phf8-ps	C	T	17: 33,286,628 (GRCm39)	G58E	probably damaging	Het
Pkd1l2	C	A	8: 117,743,655 (GRCm39)	R1978L	probably benign	Het
Pkhd1	T	A	1: 20,593,791 (GRCm39)	T1441S	possibly damaging	Het
Plg	A	G	17: 12,621,934 (GRCm39)		probably benign	Het
Pot1a	A	G	6: 25,750,099 (GRCm39)	L521P	probably damaging	Het
Pramel14	G	A	4: 143,720,924 (GRCm39)	P6S	probably damaging	Het
Ptprj	A	T	2: 90,270,256 (GRCm39)	V1280E	probably damaging	Het
Rcbtb2	T	C	14: 73,402,222 (GRCm39)	S136P	possibly damaging	Het
Rtl1	C	T	12: 109,558,369 (GRCm39)	E1157K	possibly damaging	Het
Sell	G	A	1: 163,893,195 (GRCm39)	R137Q	probably benign	Het
Shisa9	A	T	16: 12,062,522 (GRCm39)	M248L	probably benign	Het
Spag17	A	G	3: 99,966,149 (GRCm39)	E1144G	probably benign	Het
Sphk2	G	T	7: 45,360,157 (GRCm39)	Q616K	probably benign	Het
Tecrl	T	C	5: 83,442,453 (GRCm39)	T207A	probably benign	Het
Ubr5	T	C	15: 37,996,842 (GRCm39)	T1885A	probably benign	Het
Usp32	A	G	11: 84,927,350 (GRCm39)	M622T	probably benign	Het
Vangl1	A	G	3: 102,091,607 (GRCm39)	F160L	probably damaging	Het
Vps13d	T	C	4: 144,813,317 (GRCm39)	S3289G	probably damaging	Het
Wdfy4	A	G	14: 32,855,673 (GRCm39)	F647S	probably damaging	Het
Wdhd1	A	G	14: 47,498,907 (GRCm39)	L509P	probably damaging	Het
Zcchc2	A	G	1: 105,955,229 (GRCm39)	E640G	probably damaging	Het
Zfp563	T	A	17: 33,324,383 (GRCm39)	I326N	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
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

2014-05-07