Mutagenetix > Incidental Mutation

Incidental Mutation 'R5922:Usp54'

461651

Institutional Source

Beutler Lab

Gene Symbol

Usp54

Ensembl Gene

ENSMUSG00000034235

Gene Name

ubiquitin specific peptidase 54

Synonyms

4930429G18Rik, C030002J06Rik

MMRRC Submission

043240-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5922 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20598980-20691131 bp(-) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

T to C at 20602139 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000036214 (fasta)

Gene Model

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

AlphaFold

Q8BL06

Predicted Effect

probably null
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 null
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

noncoding transcript
Transcript: ENSMUST00000128848

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129237

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141265

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142099

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7a	G	T	4: 56,743,827 (GRCm39)	R118L	probably damaging	Het
Atr	A	G	9: 95,785,735 (GRCm39)	D1429G	probably benign	Het
Brinp2	A	T	1: 158,076,925 (GRCm39)	V390D	possibly damaging	Het
Cpn1	T	C	19: 43,974,532 (GRCm39)	S66G	probably damaging	Het
Dnal1	C	A	12: 84,173,746 (GRCm39)	L55M	probably damaging	Het
Dus2	G	A	8: 106,780,037 (GRCm39)	R453Q	possibly damaging	Het
Efcab5	T	C	11: 77,079,570 (GRCm39)	T59A	probably benign	Het
Elmo1	A	G	13: 20,789,339 (GRCm39)	D685G	probably damaging	Het
Ern1	T	C	11: 106,312,556 (GRCm39)	E275G	probably damaging	Het
Etnk2	A	G	1: 133,291,623 (GRCm39)		probably null	Het
Fign	T	C	2: 63,809,404 (GRCm39)	D622G	probably damaging	Het
Gjb2	A	G	14: 57,337,755 (GRCm39)	M151T	probably benign	Het
Heatr9	C	T	11: 83,403,193 (GRCm39)		probably null	Het
Herpud2	G	A	9: 25,020,280 (GRCm39)	L359F	probably benign	Het
Hpx	C	T	7: 105,244,831 (GRCm39)	R118H	probably damaging	Het
Hyal2	A	G	9: 107,448,106 (GRCm39)	Y253C	probably damaging	Het
Igkv14-130	T	C	6: 67,768,206 (GRCm39)	C22R	probably damaging	Het
Ms4a6b	T	A	19: 11,497,743 (GRCm39)	I14N	possibly damaging	Het
Myb	T	A	10: 21,028,826 (GRCm39)	I91F	probably damaging	Het
Myh6	C	T	14: 55,183,931 (GRCm39)	D1668N	probably damaging	Het
Noc2l	C	T	4: 156,325,770 (GRCm39)	Q182*	probably null	Het
Nsd1	A	G	13: 55,395,288 (GRCm39)	N1066S	probably benign	Het
Nup98	A	G	7: 101,803,224 (GRCm39)	Y659H	probably damaging	Het
Nutm1	T	C	2: 112,079,659 (GRCm39)	E752G	possibly damaging	Het
Paqr6	G	T	3: 88,273,544 (GRCm39)	A154S	probably benign	Het
Pdlim7	G	T	13: 55,656,768 (GRCm39)	T62K	probably damaging	Het
Pibf1	A	G	14: 99,374,524 (GRCm39)	D321G	probably benign	Het
Plrg1	T	A	3: 82,964,155 (GRCm39)	N29K	possibly damaging	Het
Scimp	A	C	11: 70,691,642 (GRCm39)		probably null	Het
Sec16a	T	C	2: 26,305,651 (GRCm39)	N2251S	probably benign	Het
Sec61a2	A	T	2: 5,879,134 (GRCm39)	D291E	possibly damaging	Het
Serpina3i	A	G	12: 104,232,766 (GRCm39)	K224E	probably benign	Het
Spz1	A	T	13: 92,712,106 (GRCm39)	D123E	possibly damaging	Het
St14	A	T	9: 31,041,200 (GRCm39)		probably benign	Het
Ush1c	A	T	7: 45,853,552 (GRCm39)		probably null	Het
Zfhx3	C	T	8: 109,673,330 (GRCm39)	T1460M	probably damaging	Het
Zfp712	G	T	13: 67,189,668 (GRCm39)	N286K	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- TCCGAAGAGTGCATTAACCAC -3'
(R):5'- AAAGACTTTGGAAACCGGGC -3'

Sequencing Primer
(F):5'- TTCATGACCCAAGCAGGTTG -3'
(R):5'- GGCACCATTGTTCCAGCTC -3'

Posted On

2017-02-28