Mutagenetix > Incidental Mutation

Incidental Mutation 'R2285:Usp54'

243284

Institutional Source

Beutler Lab

Gene Symbol

Usp54

Ensembl Gene

ENSMUSG00000034235

Gene Name

ubiquitin specific peptidase 54

Synonyms

4930429G18Rik, C030002J06Rik

MMRRC Submission

040284-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2285 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20598980-20691131 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 20611246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1190 (T1190I)

Ref Sequence

ENSEMBL: ENSMUSP00000036214 (fasta)

Gene Model

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

AlphaFold

Q8BL06

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022356
AA Change: T1190I

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000022356
Gene: ENSMUSG00000034235
AA Change: T1190I

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

possibly damaging
Transcript: ENSMUST00000035340
AA Change: T1190I

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000036214
Gene: ENSMUSG00000034235
AA Change: T1190I

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: ENSMUST00000223899

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224755

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225721

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	G	5: 105,087,037 (GRCm39)	Y532H	probably damaging	Het
Bbs9	T	G	9: 22,590,230 (GRCm39)	L656W	probably damaging	Het
Cibar2	T	C	8: 120,895,276 (GRCm39)	N209D	probably benign	Het
Clu	T	C	14: 66,218,408 (GRCm39)	S423P	probably benign	Het
Cnpy4	A	G	5: 138,191,087 (GRCm39)		probably null	Het
Col28a1	A	T	6: 8,097,078 (GRCm39)	V440E	probably damaging	Het
Colgalt2	A	G	1: 152,344,301 (GRCm39)	N121S	probably benign	Het
Cpa5	G	T	6: 30,615,063 (GRCm39)	V67L	probably benign	Het
Emilin1	G	A	5: 31,075,544 (GRCm39)	R595H	probably damaging	Het
Fat3	G	T	9: 16,287,469 (GRCm39)	Q685K	probably damaging	Het
Gfra4	C	T	2: 130,883,651 (GRCm39)	R34H	probably damaging	Het
Gp2	C	T	7: 119,049,308 (GRCm39)	V410M	possibly damaging	Het
Ints9	T	C	14: 65,245,446 (GRCm39)	F235L	possibly damaging	Het
Kcnh3	A	T	15: 99,139,873 (GRCm39)	I920F	probably benign	Het
Mipep	T	C	14: 61,024,843 (GRCm39)	S95P	possibly damaging	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Nxpe3	C	T	16: 55,686,588 (GRCm39)	G140D	probably damaging	Het
Or6c66b	A	G	10: 129,376,537 (GRCm39)	I44V	probably benign	Het
Ppcs	T	A	4: 119,276,174 (GRCm39)	K137I	possibly damaging	Het
Tmc1	A	G	19: 20,767,163 (GRCm39)	M731T	probably damaging	Het
Tubgcp6	A	T	15: 89,006,677 (GRCm39)	V115D	probably damaging	Het
Zfp51	T	A	17: 21,684,137 (GRCm39)	F251I	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- TCCCAGTGTGGATGCAAAAG -3'
(R):5'- TCCAGGAAGAGAGCACTGTC -3'

Sequencing Primer
(F):5'- AAGGATAGGACTTCTTTCTAGGCAG -3'
(R):5'- GCACTGTCGCTGGGTAAAAC -3'

Posted On

2014-10-16