Mutagenetix > Incidental Mutation

Incidental Mutation 'R7940:Usp24'

648990

Institutional Source

Beutler Lab

Gene Symbol

Usp24

Ensembl Gene

ENSMUSG00000028514

Gene Name

ubiquitin specific peptidase 24

Synonyms

2700066K03Rik, 2810030C21Rik

MMRRC Submission

045986-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7940 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106173410-106298519 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106287741 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 2465 (Q2465L)

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: Q2464L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000092538
Gene: ENSMUSG00000028514
AA Change: Q2464L

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: Q2465L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133095
Gene: ENSMUSG00000028514
AA Change: Q2465L

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: 99.7%
20x: 99.0%

Validation Efficiency

98% (56/57)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	G	7: 130,952,767 (GRCm39)	M238T	probably benign	Het
Acacb	C	T	5: 114,304,108 (GRCm39)	S177F	possibly damaging	Het
Afap1l2	A	G	19: 56,902,597 (GRCm39)	V822A	probably damaging	Het
Alpk3	C	T	7: 80,743,693 (GRCm39)	P1170L	probably damaging	Het
Aox3	A	G	1: 58,227,596 (GRCm39)	I1234V	probably damaging	Het
Ascc1	G	A	10: 59,848,381 (GRCm39)	V103M	probably null	Het
Brca2	C	G	5: 150,462,198 (GRCm39)	T654S	probably benign	Het
Cblb	T	C	16: 51,972,899 (GRCm39)	F410S	probably damaging	Het
Cep95	T	A	11: 106,686,974 (GRCm39)	N94K	probably benign	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Cpe	T	A	8: 65,047,945 (GRCm39)	S440C	probably damaging	Het
Cspg4	C	T	9: 56,795,381 (GRCm39)	Q1039*	probably null	Het
Cul5	A	T	9: 53,535,069 (GRCm39)	S612T	probably benign	Het
Dapl1	T	C	2: 59,315,112 (GRCm39)		probably null	Het
Deptor	C	T	15: 55,072,244 (GRCm39)	T241M	probably benign	Het
Dnaaf1	A	G	8: 120,309,454 (GRCm39)	T181A	possibly damaging	Het
Dnajc11	G	T	4: 152,053,045 (GRCm39)	Q156H	probably benign	Het
Dst	T	C	1: 34,206,757 (GRCm39)	V975A	possibly damaging	Het
Elf3	T	A	1: 135,184,866 (GRCm39)	S107C	probably damaging	Het
Enpp2	T	A	15: 54,770,324 (GRCm39)	D105V	probably damaging	Het
Fgd6	G	A	10: 93,956,344 (GRCm39)	V1008I	probably benign	Het
Frmpd2	C	T	14: 33,276,850 (GRCm39)	R1157*	probably null	Het
Gabrg2	A	C	11: 41,858,474 (GRCm39)	V218G	probably benign	Het
Gdpgp1	C	T	7: 79,888,953 (GRCm39)	A328V	probably damaging	Het
Glis1	C	G	4: 107,489,571 (GRCm39)	F719L	probably damaging	Het
Glis1	A	T	4: 107,489,572 (GRCm39)	N720Y	probably damaging	Het
Grin2c	G	T	11: 115,146,107 (GRCm39)	A546D	probably damaging	Het
Gtf3c5	G	A	2: 28,458,592 (GRCm39)	T433I	possibly damaging	Het
Jmjd6	C	A	11: 116,734,055 (GRCm39)		probably benign	Het
Kctd14	T	C	7: 97,106,891 (GRCm39)	S49P	probably damaging	Het
Lamc2	T	A	1: 153,006,521 (GRCm39)	K877*	probably null	Het
Lgr4	T	A	2: 109,836,858 (GRCm39)	S397R	probably damaging	Het
Lrp2	A	T	2: 69,262,541 (GRCm39)	I4420N	possibly damaging	Het
Lyn	A	G	4: 3,783,089 (GRCm39)	K441E	possibly damaging	Het
Minpp1	A	T	19: 32,463,359 (GRCm39)	S7C	possibly damaging	Het
Mrps9	T	A	1: 42,901,808 (GRCm39)	D105E	probably damaging	Het
Ncoa1	C	A	12: 4,363,095 (GRCm39)	A247S	possibly damaging	Het
Or52b4i	G	A	7: 102,191,515 (GRCm39)	R124H	possibly damaging	Het
Or8c15	T	C	9: 38,120,496 (GRCm39)	V47A	probably benign	Het
Pabir1	G	A	19: 24,454,552 (GRCm39)	R57W	probably benign	Het
Pakap	A	G	4: 57,883,026 (GRCm39)	K790E	probably damaging	Het
Pcdh15	G	A	10: 74,430,022 (GRCm39)	V1250I	probably damaging	Het
Pcdha12	A	T	18: 37,153,409 (GRCm39)	T43S	probably damaging	Het
Pkn2	G	A	3: 142,516,480 (GRCm39)	R549C	probably benign	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Polq	T	A	16: 36,881,004 (GRCm39)	M1056K	probably benign	Het
Ppp1r12b	A	T	1: 134,803,793 (GRCm39)	N455K	probably benign	Het
Rhbdf1	T	A	11: 32,166,258 (GRCm39)	M1L	possibly damaging	Het
Rspry1	G	T	8: 95,349,635 (GRCm39)	V8L	probably benign	Het
Slc6a20b	A	G	9: 123,436,666 (GRCm39)	V249A	probably damaging	Het
Smok2b	A	T	17: 13,455,046 (GRCm39)	H402L	possibly damaging	Het
Supt20	A	T	3: 54,620,620 (GRCm39)	N393I	probably benign	Het
Tcp11l1	T	C	2: 104,528,993 (GRCm39)	K102E	probably damaging	Het
Tpbgl	T	C	7: 99,274,798 (GRCm39)	Y353C	probably damaging	Het
Vmn2r116	T	A	17: 23,605,946 (GRCm39)	M286K	probably damaging	Het
Wnt16	C	A	6: 22,291,188 (GRCm39)	N205K	possibly damaging	Het
Xkr7	C	A	2: 152,874,135 (GRCm39)	F67L	probably damaging	Het
Zfp473	T	G	7: 44,384,000 (GRCm39)	E111A	probably damaging	Het
Zfp74	T	C	7: 29,631,867 (GRCm39)	K126E	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
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
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'- AATGTTTGTCCTCACAGCCC -3'
(R):5'- TCCTGGTGAGATGAGGAACC -3'

Sequencing Primer
(F):5'- CCCTCAGAAAACTATGGAAATAGTTG -3'
(R):5'- CCGAGTGAAGAGAACAAGACTTC -3'

Posted On

2020-09-15