Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03371:Usp54'

420315

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Usp54

Ensembl Gene

ENSMUSG00000034235

Gene Name

ubiquitin specific peptidase 54

Synonyms

4930429G18Rik, C030002J06Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03371

Quality Score

Status

Chromosome

Chromosomal Location

20598980-20691131 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 20639436 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022356] [ENSMUST00000035340]

AlphaFold

Q8BL06

Predicted Effect

probably benign
Transcript: ENSMUST00000022356

SMART Domains

Protein: ENSMUSP00000022356
Gene: ENSMUSG00000034235

Domain	Start	End	E-Value	Type
Pfam:UCH	30	349	2.4e-23	PFAM
Pfam:UCH_1	31	324	2.1e-7	PFAM
low complexity region	403	412	N/A	INTRINSIC
low complexity region	439	445	N/A	INTRINSIC
low complexity region	498	513	N/A	INTRINSIC
low complexity region	601	616	N/A	INTRINSIC
coiled coil region	682	712	N/A	INTRINSIC
low complexity region	808	826	N/A	INTRINSIC
low complexity region	881	894	N/A	INTRINSIC
low complexity region	1002	1020	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000035340

SMART Domains

Protein: ENSMUSP00000036214
Gene: ENSMUSG00000034235

Domain	Start	End	E-Value	Type
Pfam:UCH	31	349	2.3e-21	PFAM
low complexity region	403	412	N/A	INTRINSIC
low complexity region	439	445	N/A	INTRINSIC
low complexity region	498	513	N/A	INTRINSIC
low complexity region	601	616	N/A	INTRINSIC
coiled coil region	682	712	N/A	INTRINSIC
low complexity region	808	826	N/A	INTRINSIC
low complexity region	881	894	N/A	INTRINSIC
low complexity region	1002	1020	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123287

SMART Domains

Protein: ENSMUSP00000117503
Gene: ENSMUSG00000034235

Domain	Start	End	E-Value	Type
low complexity region	82	95	N/A	INTRINSIC
low complexity region	156	165	N/A	INTRINSIC
low complexity region	192	198	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127342

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143267

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agk	C	T	6: 40,371,576 (GRCm39)	R358C	probably benign	Het
Ahnak	G	T	19: 8,981,592 (GRCm39)	V959F	possibly damaging	Het
Aoc1	C	T	6: 48,883,380 (GRCm39)	R419C	probably benign	Het
Brf2	T	C	8: 27,615,872 (GRCm39)	D171G	probably benign	Het
Cnot1	T	C	8: 96,501,344 (GRCm39)	I75V	possibly damaging	Het
D430041D05Rik	A	G	2: 104,078,719 (GRCm39)	V1199A	probably damaging	Het
Dpp9	G	A	17: 56,494,377 (GRCm39)	H861Y	probably benign	Het
Eddm3b	G	A	14: 51,354,422 (GRCm39)	D137N	probably damaging	Het
Erich3	A	T	3: 154,433,114 (GRCm39)	I363F	probably damaging	Het
F13b	T	A	1: 139,434,674 (GRCm39)	C147S	probably damaging	Het
Fam186b	T	C	15: 99,178,258 (GRCm39)	E356G	probably benign	Het
Fat2	T	A	11: 55,201,990 (GRCm39)	R361S	probably benign	Het
Fat4	A	T	3: 39,037,336 (GRCm39)	I3663F	possibly damaging	Het
Haus3	C	A	5: 34,323,687 (GRCm39)	E308*	probably null	Het
Ifna11	A	G	4: 88,738,412 (GRCm39)	K73E	probably benign	Het
Itga10	A	G	3: 96,562,104 (GRCm39)	K664E	possibly damaging	Het
L3mbtl4	G	A	17: 68,768,563 (GRCm39)	V224M	probably damaging	Het
Mcf2l	C	A	8: 13,051,298 (GRCm39)	A378D	probably damaging	Het
Mixl1	T	C	1: 180,522,191 (GRCm39)	N230S	probably benign	Het
Ncbp1	T	A	4: 46,171,991 (GRCm39)	C786*	probably null	Het
Nup153	C	T	13: 46,836,628 (GRCm39)	S1327N	probably benign	Het
Or4c12b	A	T	2: 89,647,509 (GRCm39)	T280S	possibly damaging	Het
Or8k18	A	T	2: 86,085,935 (GRCm39)	I34N	possibly damaging	Het
Osr2	C	A	15: 35,301,000 (GRCm39)	Y185*	probably null	Het
Ppp1r3b	T	C	8: 35,851,403 (GRCm39)	F81L	possibly damaging	Het
Ppp3r2	T	A	4: 49,681,630 (GRCm39)	I107F	probably damaging	Het
Rin2	G	A	2: 145,727,846 (GRCm39)		probably benign	Het
Rpap1	A	T	2: 119,605,538 (GRCm39)		probably benign	Het
Slc12a4	A	G	8: 106,677,137 (GRCm39)	Y466H	probably null	Het
Slc25a40	C	T	5: 8,477,442 (GRCm39)	P9L	probably benign	Het
Slc27a1	T	C	8: 72,038,052 (GRCm39)	S567P	probably benign	Het
Sox8	G	A	17: 25,786,414 (GRCm39)	R430C	probably damaging	Het
Tacc2	T	C	7: 130,227,791 (GRCm39)	V1492A	possibly damaging	Het
Taf5l	A	G	8: 124,724,725 (GRCm39)	S365P	possibly damaging	Het
Tet2	T	A	3: 133,173,312 (GRCm39)	H1650L	possibly damaging	Het
Tmem117	G	A	15: 94,909,274 (GRCm39)	R229H	probably damaging	Het
Ttc17	A	G	2: 94,216,450 (GRCm39)	L79P	probably damaging	Het
Zfp455	T	A	13: 67,355,066 (GRCm39)	C111*	probably null	Het
Zmym4	A	C	4: 126,808,881 (GRCm39)	C389G	possibly damaging	Het

Other mutations in Usp54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Usp54	APN	14	20,623,905 (GRCm39)	missense	probably damaging	1.00
IGL01090:Usp54	APN	14	20,636,225 (GRCm39)	unclassified	probably benign
IGL02030:Usp54	APN	14	20,616,014 (GRCm39)	missense	probably benign	0.44
IGL02333:Usp54	APN	14	20,639,463 (GRCm39)	missense	probably damaging	1.00
IGL02642:Usp54	APN	14	20,615,140 (GRCm39)	splice site	probably benign
IGL02970:Usp54	APN	14	20,627,540 (GRCm39)	missense	probably damaging	1.00
BB003:Usp54	UTSW	14	20,627,036 (GRCm39)	missense	probably damaging	1.00
BB013:Usp54	UTSW	14	20,627,036 (GRCm39)	missense	probably damaging	1.00
R0050:Usp54	UTSW	14	20,623,823 (GRCm39)	unclassified	probably benign
R0383:Usp54	UTSW	14	20,611,320 (GRCm39)	missense	probably benign	0.00
R0427:Usp54	UTSW	14	20,620,432 (GRCm39)	missense	probably benign
R0442:Usp54	UTSW	14	20,657,277 (GRCm39)	missense	probably damaging	1.00
R0574:Usp54	UTSW	14	20,606,322 (GRCm39)	missense	probably benign	0.00
R0638:Usp54	UTSW	14	20,639,437 (GRCm39)	unclassified	probably benign
R0789:Usp54	UTSW	14	20,612,225 (GRCm39)	missense	probably benign	0.01
R1272:Usp54	UTSW	14	20,611,178 (GRCm39)	missense	probably damaging	0.99
R1463:Usp54	UTSW	14	20,600,258 (GRCm39)	missense	probably benign	0.15
R1565:Usp54	UTSW	14	20,657,227 (GRCm39)	missense	probably damaging	1.00
R1721:Usp54	UTSW	14	20,633,508 (GRCm39)	nonsense	probably null
R1922:Usp54	UTSW	14	20,610,972 (GRCm39)	missense	probably benign	0.00
R2068:Usp54	UTSW	14	20,627,273 (GRCm39)	missense	probably damaging	1.00
R2216:Usp54	UTSW	14	20,611,908 (GRCm39)	missense	probably benign
R2285:Usp54	UTSW	14	20,611,246 (GRCm39)	missense	possibly damaging	0.52
R2426:Usp54	UTSW	14	20,615,008 (GRCm39)	missense	probably benign	0.00
R3855:Usp54	UTSW	14	20,638,488 (GRCm39)	missense	probably damaging	1.00
R3856:Usp54	UTSW	14	20,638,488 (GRCm39)	missense	probably damaging	1.00
R3907:Usp54	UTSW	14	20,636,181 (GRCm39)	missense	probably damaging	1.00
R4367:Usp54	UTSW	14	20,611,202 (GRCm39)	missense	probably benign	0.02
R4384:Usp54	UTSW	14	20,600,153 (GRCm39)	splice site	probably null
R4555:Usp54	UTSW	14	20,611,090 (GRCm39)	missense	probably benign	0.06
R4617:Usp54	UTSW	14	20,600,406 (GRCm39)	missense	probably benign	0.04
R4659:Usp54	UTSW	14	20,615,060 (GRCm39)	missense	probably damaging	1.00
R4672:Usp54	UTSW	14	20,631,597 (GRCm39)	intron	probably benign
R4928:Usp54	UTSW	14	20,612,260 (GRCm39)	missense	probably damaging	1.00
R5381:Usp54	UTSW	14	20,636,144 (GRCm39)	missense	probably damaging	1.00
R5408:Usp54	UTSW	14	20,600,501 (GRCm39)	missense	probably damaging	1.00
R5630:Usp54	UTSW	14	20,615,125 (GRCm39)	missense	probably damaging	1.00
R5841:Usp54	UTSW	14	20,600,351 (GRCm39)	missense	probably benign	0.04
R5886:Usp54	UTSW	14	20,611,910 (GRCm39)	missense	probably benign	0.28
R5922:Usp54	UTSW	14	20,602,139 (GRCm39)	splice site	probably null
R5975:Usp54	UTSW	14	20,633,419 (GRCm39)	missense	possibly damaging	0.77
R6074:Usp54	UTSW	14	20,602,167 (GRCm39)	missense	probably benign	0.02
R6183:Usp54	UTSW	14	20,602,313 (GRCm39)	missense	probably damaging	0.99
R6234:Usp54	UTSW	14	20,633,518 (GRCm39)	missense	probably damaging	1.00
R6303:Usp54	UTSW	14	20,611,036 (GRCm39)	missense	possibly damaging	0.95
R6304:Usp54	UTSW	14	20,611,036 (GRCm39)	missense	possibly damaging	0.95
R6695:Usp54	UTSW	14	20,610,937 (GRCm39)	missense	possibly damaging	0.94
R6774:Usp54	UTSW	14	20,627,296 (GRCm39)	missense	probably damaging	1.00
R6941:Usp54	UTSW	14	20,612,177 (GRCm39)	missense	probably benign
R7133:Usp54	UTSW	14	20,611,310 (GRCm39)	missense	probably benign	0.00
R7196:Usp54	UTSW	14	20,638,438 (GRCm39)	missense	probably damaging	1.00
R7409:Usp54	UTSW	14	20,602,313 (GRCm39)	missense	probably damaging	0.99
R7424:Usp54	UTSW	14	20,627,108 (GRCm39)	missense	probably benign	0.15
R7859:Usp54	UTSW	14	20,638,204 (GRCm39)	missense	probably benign	0.24
R7926:Usp54	UTSW	14	20,627,036 (GRCm39)	missense	probably damaging	1.00
R7954:Usp54	UTSW	14	20,611,981 (GRCm39)	missense	probably benign	0.01
R8489:Usp54	UTSW	14	20,611,604 (GRCm39)	missense	probably benign	0.31
R8745:Usp54	UTSW	14	20,612,176 (GRCm39)	missense	probably benign	0.00
R8775:Usp54	UTSW	14	20,638,466 (GRCm39)	missense	probably benign	0.03
R8775-TAIL:Usp54	UTSW	14	20,638,466 (GRCm39)	missense	probably benign	0.03
R9080:Usp54	UTSW	14	20,612,308 (GRCm39)	missense	probably damaging	1.00
R9121:Usp54	UTSW	14	20,631,523 (GRCm39)	critical splice donor site	probably null
R9139:Usp54	UTSW	14	20,627,162 (GRCm39)	missense	probably benign	0.00
R9433:Usp54	UTSW	14	20,611,678 (GRCm39)	missense	probably benign
R9613:Usp54	UTSW	14	20,600,438 (GRCm39)	missense	probably damaging	0.97
RF004:Usp54	UTSW	14	20,611,368 (GRCm39)	missense	possibly damaging	0.90
X0024:Usp54	UTSW	14	20,627,319 (GRCm39)	small deletion	probably benign

Posted On

2016-08-02