Mutagenetix > Incidental Mutation

Incidental Mutation 'R9472:Usp24'

715511

Institutional Source

Beutler Lab

Gene Symbol

Usp24

Ensembl Gene

ENSMUSG00000028514

Gene Name

ubiquitin specific peptidase 24

Synonyms

2700066K03Rik, 2810030C21Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9472 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106173410-106298519 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106261128 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1628 (T1628A)

Ref Sequence

ENSEMBL: ENSMUSP00000133095 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094933] [ENSMUST00000165709]

AlphaFold

B1AY13

Predicted Effect

probably benign
Transcript: ENSMUST00000094933
AA Change: T1627A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000092538
Gene: ENSMUSG00000028514
AA Change: T1627A

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
AA Change: T1628A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000133095
Gene: ENSMUSG00000028514
AA Change: T1628A

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: 98.6%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	G	8: 25,127,248 (GRCm39)	K449N	probably benign	Het
Adam39	G	A	8: 41,279,351 (GRCm39)	V581I	possibly damaging	Het
Agrn	A	G	4: 156,254,841 (GRCm39)	F1625S		Het
Aox3	G	T	1: 58,215,669 (GRCm39)	V1034L	possibly damaging	Het
Baz2a	T	G	10: 127,948,624 (GRCm39)	S302A	probably benign	Het
Capn9	T	C	8: 125,325,534 (GRCm39)		probably null	Het
Ccdc153	A	T	9: 44,154,923 (GRCm39)	Q104L	possibly damaging	Het
Cdh1	A	T	8: 107,380,248 (GRCm39)	N168I	probably damaging	Het
Crisp3	A	T	17: 40,539,676 (GRCm39)		probably null	Het
Ctsb	T	C	14: 63,379,186 (GRCm39)	V266A	probably damaging	Het
Cyp2c39	G	T	19: 39,502,043 (GRCm39)	R144L	probably damaging	Het
Elmo1	C	T	13: 20,470,897 (GRCm39)	A263V	probably benign	Het
Enkur	T	C	2: 21,201,590 (GRCm39)	R32G	possibly damaging	Het
Fsip2	T	A	2: 82,817,285 (GRCm39)	N4339K	possibly damaging	Het
Gsn	T	G	2: 35,182,741 (GRCm39)	M268R	probably damaging	Het
Herc2	T	A	7: 55,813,843 (GRCm39)	W2659R	probably damaging	Het
Hycc2	A	G	1: 58,574,641 (GRCm39)	V300A	possibly damaging	Het
Ino80e	A	G	7: 126,461,127 (GRCm39)	V40A	unknown	Het
Ints2	T	C	11: 86,133,824 (GRCm39)	T409A		Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kat2a	A	G	11: 100,596,197 (GRCm39)	V787A	probably benign	Het
Klhl32	A	G	4: 24,629,273 (GRCm39)	V465A	probably benign	Het
Kmt2a	C	A	9: 44,733,453 (GRCm39)	R2288L	unknown	Het
Megf6	G	A	4: 154,333,910 (GRCm39)	G213S	probably damaging	Het
Mt2	T	A	8: 94,899,999 (GRCm39)	C44S	probably damaging	Het
Nfe2l1	A	G	11: 96,710,159 (GRCm39)	V690A	probably damaging	Het
Obscn	T	C	11: 58,894,495 (GRCm39)	H6670R		Het
Or4c111	A	C	2: 88,843,517 (GRCm39)	I297S	possibly damaging	Het
Orc4	T	C	2: 48,795,563 (GRCm39)	T388A	probably benign	Het
Pcdhb17	C	A	18: 37,618,919 (GRCm39)	N236K	probably damaging	Het
Phlpp1	T	C	1: 106,308,079 (GRCm39)	S1119P	probably damaging	Het
Plppr3	T	C	10: 79,702,711 (GRCm39)	D184G	probably damaging	Het
Rassf6	A	T	5: 90,765,572 (GRCm39)	Y46*	probably null	Het
Rmdn2	T	A	17: 79,989,096 (GRCm39)	I405N	possibly damaging	Het
Rsbn1l	A	C	5: 21,113,119 (GRCm39)	S468A	probably damaging	Het
Rslcan18	T	C	13: 67,260,296 (GRCm39)	K34E	probably benign	Het
Runx3	A	G	4: 134,898,441 (GRCm39)	D204G	probably damaging	Het
Sbf2	A	G	7: 109,970,798 (GRCm39)	I866T	possibly damaging	Het
Sgtb	A	C	13: 104,247,681 (GRCm39)	E28D	probably benign	Het
Slc38a8	T	A	8: 120,227,888 (GRCm39)	K14M	probably damaging	Het
Spast	T	C	17: 74,681,143 (GRCm39)	V478A	probably damaging	Het
Stxbp5	T	C	10: 9,719,101 (GRCm39)	T147A	probably damaging	Het
Tmem208	T	C	8: 106,055,027 (GRCm39)	F79S	probably damaging	Het
Tmprss7	T	C	16: 45,501,052 (GRCm39)	I250V	probably benign	Het
Vmn2r14	G	T	5: 109,367,962 (GRCm39)	N343K	probably benign	Het
Xrcc6	T	A	15: 81,913,328 (GRCm39)	Y320*	probably null	Het
Zbtb10	A	C	3: 9,343,355 (GRCm39)	T627P	probably benign	Het
Zfp532	A	T	18: 65,756,624 (GRCm39)	K186*	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
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
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'- TGACCGTCGGCATATTTGAG -3'
(R):5'- AGGATCTCCAGCCTCTAGAC -3'

Sequencing Primer
(F):5'- TTGAGATGTTTGTAGGAATCAACC -3'
(R):5'- TCTCCAGCCTCTAGACCCACATAC -3'

Posted On

2022-06-15