Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02030:Usp54'

184327

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 #

IGL02030

Quality Score

Status

Chromosome

Chromosomal Location

20598980-20691131 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20616014 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 769 (I769V)

Ref Sequence

ENSEMBL: ENSMUSP00000036214 (fasta)

Gene Model

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

AlphaFold

Q8BL06

Predicted Effect

probably benign
Transcript: ENSMUST00000022356
AA Change: I769V

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000022356
Gene: ENSMUSG00000034235
AA Change: I769V

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
AA Change: I769V

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000036214
Gene: ENSMUSG00000034235
AA Change: I769V

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

noncoding transcript
Transcript: ENSMUST00000124940

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128848

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129237

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141265

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142099

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225721

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223899

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224755

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	T	C	8: 44,021,894 (GRCm39)	D532G	probably benign	Het
Adam29	C	T	8: 56,325,157 (GRCm39)	M432I	probably benign	Het
Cbs	A	G	17: 31,844,463 (GRCm39)		probably null	Het
Ccer1	A	G	10: 97,529,472 (GRCm39)	Y45C	unknown	Het
Clu	G	A	14: 66,213,240 (GRCm39)	G209S	probably benign	Het
Ddx17	T	C	15: 79,414,577 (GRCm39)	D530G	probably benign	Het
Ddx4	T	C	13: 112,761,311 (GRCm39)		probably benign	Het
Fry	C	T	5: 150,395,083 (GRCm39)		probably benign	Het
Fut10	C	T	8: 31,726,006 (GRCm39)	Q254*	probably null	Het
Gucy2e	A	G	11: 69,114,642 (GRCm39)	F1002S	probably damaging	Het
Hsd3b6	T	C	3: 98,713,489 (GRCm39)	Y270C	probably benign	Het
Jup	A	G	11: 100,267,817 (GRCm39)	I502T	probably damaging	Het
Lrrc71	T	A	3: 87,652,531 (GRCm39)		probably null	Het
Mei1	T	C	15: 81,999,944 (GRCm39)	V1127A	probably benign	Het
Ncstn	A	T	1: 171,900,024 (GRCm39)		probably benign	Het
Nin	T	C	12: 70,092,042 (GRCm39)	R756G	probably damaging	Het
Notch2	C	A	3: 98,006,737 (GRCm39)		probably null	Het
Oacyl	T	C	18: 65,870,981 (GRCm39)	V394A	probably damaging	Het
Or1j19	A	G	2: 36,677,410 (GRCm39)	Y291C	probably damaging	Het
Or5b21	T	C	19: 12,839,799 (GRCm39)	F220S	probably benign	Het
Or6b13	A	G	7: 139,782,545 (GRCm39)	I46T	probably damaging	Het
Parn	A	G	16: 13,482,514 (GRCm39)		probably null	Het
Rspo3	T	G	10: 29,376,044 (GRCm39)	E173A	probably damaging	Het
Rusc2	T	A	4: 43,416,095 (GRCm39)	V467E	possibly damaging	Het
Sema7a	G	A	9: 57,862,423 (GRCm39)	E209K	possibly damaging	Het
Uchl4	T	C	9: 64,142,911 (GRCm39)	S131P	probably benign	Het
Xirp2	T	C	2: 67,339,325 (GRCm39)	M522T	probably benign	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
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
IGL03371:Usp54	APN	14	20,639,436 (GRCm39)	unclassified	probably benign
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

2014-05-07