Mutagenetix > Incidental Mutation

Incidental Mutation 'R0574:Usp54'

192607

Institutional Source

Beutler Lab

Gene Symbol

Usp54

Ensembl Gene

ENSMUSG00000034235

Gene Name

ubiquitin specific peptidase 54

Synonyms

4930429G18Rik, C030002J06Rik

MMRRC Submission

038764-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0574 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

20598980-20691131 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20606322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1338 (V1338A)

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: V1338A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000022356
Gene: ENSMUSG00000034235
AA Change: V1338A

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: V1338A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000036214
Gene: ENSMUSG00000034235
AA Change: V1338A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.4%

Validation Efficiency

100% (34/34)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700099C18Rik	T	C	17: 95,068,919 (GRCm39)		noncoding transcript	Het
Abca14	A	G	7: 119,823,720 (GRCm39)	I416V	probably damaging	Het
Actrt3	T	C	3: 30,653,829 (GRCm39)	E57G	probably benign	Het
Adamts5	A	G	16: 85,696,372 (GRCm39)	S262P	probably damaging	Het
Aldh1a2	T	C	9: 71,188,990 (GRCm39)		probably null	Het
Arhgap29	A	G	3: 121,801,274 (GRCm39)	I670V	probably benign	Het
Bptf	T	C	11: 106,967,353 (GRCm39)	D1009G	probably damaging	Het
Ddr2	G	T	1: 169,809,532 (GRCm39)		probably benign	Het
Ift140	T	A	17: 25,270,734 (GRCm39)		probably null	Het
Itga1	A	C	13: 115,103,097 (GRCm39)	S1111R	probably damaging	Het
Klk1b27	T	A	7: 43,705,525 (GRCm39)	L199Q	probably damaging	Het
Lhx3	T	C	2: 26,091,323 (GRCm39)	S329G	probably benign	Het
Man2b1	T	G	8: 85,823,405 (GRCm39)	M913R	probably benign	Het
Mmp15	G	A	8: 96,092,029 (GRCm39)	A80T	possibly damaging	Het
Mpo	A	T	11: 87,686,902 (GRCm39)	Y177F	probably damaging	Het
Mynn	T	C	3: 30,670,888 (GRCm39)	S587P	probably benign	Het
Nfkbib	C	T	7: 28,461,213 (GRCm39)	V145I	probably benign	Het
Or1o3	G	T	17: 37,573,772 (GRCm39)	S261Y	probably damaging	Het
Or4k15	A	T	14: 50,364,139 (GRCm39)	Y35F	probably damaging	Het
Or6k8-ps1	T	C	1: 173,979,132 (GRCm39)	F17L	probably benign	Het
Pole2	G	A	12: 69,258,231 (GRCm39)		probably benign	Het
Ppargc1b	C	T	18: 61,435,810 (GRCm39)	G906D	probably benign	Het
Prl8a2	T	A	13: 27,532,883 (GRCm39)	C32S	probably damaging	Het
Rhno1	A	T	6: 128,335,113 (GRCm39)		probably null	Het
Rprd2	T	C	3: 95,681,669 (GRCm39)	E408G	possibly damaging	Het
Ryr2	T	A	13: 11,746,555 (GRCm39)	H1999L	probably benign	Het
Shprh	T	C	10: 11,038,821 (GRCm39)		probably benign	Het
Snx3	T	A	10: 42,378,383 (GRCm39)	N19K	probably benign	Het
Stx8	C	T	11: 67,864,078 (GRCm39)	T46M	probably damaging	Het
Tbc1d17	A	G	7: 44,492,547 (GRCm39)		probably benign	Het
Ush1c	A	G	7: 45,846,228 (GRCm39)	S855P	possibly damaging	Het
Vmn1r214	A	G	13: 23,218,663 (GRCm39)	I52M	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
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

Predicted Primers

PCR Primer
(F):5'- AACTTCCTGGAACGCACTGAGCTG -3'
(R):5'- TTCAAGGACCATGCCTCTGCACTG -3'

Sequencing Primer
(F):5'- CGCACTGAGCTGGAGAG -3'
(R):5'- GAGAGAAAGCCATGTTTGTTCTTCC -3'

Posted On

2014-05-14