Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02970:Usp54'

365784

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 #

IGL02970

Quality Score

Status

Chromosome

Chromosomal Location

20598980-20691131 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 20627540 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 420 (S420L)

Ref Sequence

ENSEMBL: ENSMUSP00000036214 (fasta)

Gene Model

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

AlphaFold

Q8BL06

Predicted Effect

probably damaging
Transcript: ENSMUST00000022356
AA Change: S420L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022356
Gene: ENSMUSG00000034235
AA Change: S420L

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 damaging
Transcript: ENSMUST00000035340
AA Change: S420L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000036214
Gene: ENSMUSG00000034235
AA Change: S420L

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

unknown
Transcript: ENSMUST00000123287
AA Change: S172L

SMART Domains

Protein: ENSMUSP00000117503
Gene: ENSMUSG00000034235
AA Change: S172L

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: ENSMUST00000143267

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	C	T	1: 53,226,748 (GRCm39)	G5S	probably damaging	Het
A2ml1	A	T	6: 128,546,942 (GRCm39)	F396I	probably damaging	Het
BC051019	T	A	7: 109,315,262 (GRCm39)	N331I	probably benign	Het
Crocc	G	A	4: 140,757,557 (GRCm39)	S912L	possibly damaging	Het
Dcaf4	A	G	12: 83,575,989 (GRCm39)	D46G	probably damaging	Het
Dido1	C	T	2: 180,331,208 (GRCm39)	R80Q	probably damaging	Het
Dnase2b	A	G	3: 146,288,261 (GRCm39)	V278A	probably damaging	Het
Drosha	C	T	15: 12,914,042 (GRCm39)	L1106F	probably damaging	Het
Dsc3	C	A	18: 20,101,317 (GRCm39)	W692L	probably damaging	Het
F2	T	A	2: 91,455,896 (GRCm39)	Y579F	possibly damaging	Het
Fam43a	C	T	16: 30,419,922 (GRCm39)	R169C	probably damaging	Het
Gm9772	A	G	17: 22,225,540 (GRCm39)	F120S	probably damaging	Het
Gsdma3	T	C	11: 98,523,819 (GRCm39)	S251P	probably benign	Het
Hycc2	T	C	1: 58,578,776 (GRCm39)	E258G	probably damaging	Het
Itgam	G	A	7: 127,685,215 (GRCm39)	E443K	probably benign	Het
Kif18a	T	C	2: 109,118,233 (GRCm39)	V16A	probably damaging	Het
Lrrn3	T	G	12: 41,502,359 (GRCm39)	S653R	probably benign	Het
Map1b	A	T	13: 99,567,242 (GRCm39)	Y1826*	probably null	Het
Mbnl1	T	C	3: 60,520,844 (GRCm39)	F139S	probably damaging	Het
Micu3	T	C	8: 40,835,171 (GRCm39)	Y509H	possibly damaging	Het
Ncmap	T	C	4: 135,104,329 (GRCm39)	T17A	probably damaging	Het
Oas1h	T	A	5: 120,999,698 (GRCm39)	M61K	possibly damaging	Het
Otog	T	A	7: 45,945,291 (GRCm39)	W2183R	probably benign	Het
Pcdh15	T	C	10: 74,126,794 (GRCm39)		probably benign	Het
Plekho1	C	T	3: 95,898,214 (GRCm39)	V150I	probably damaging	Het
Ppargc1b	A	G	18: 61,431,837 (GRCm39)	S1004P	probably damaging	Het
Prf1	T	C	10: 61,135,957 (GRCm39)	S78P	probably benign	Het
Prss12	A	G	3: 123,276,411 (GRCm39)	S347G	probably benign	Het
Rai1	T	C	11: 60,076,559 (GRCm39)	S208P	probably damaging	Het
Sgms1	A	G	19: 32,137,165 (GRCm39)	Y134H	probably damaging	Het
Sult2a4	A	G	7: 13,643,831 (GRCm39)		probably benign	Het
T	C	T	17: 8,654,217 (GRCm39)	A134V	probably damaging	Het
Thoc5	A	G	11: 4,854,201 (GRCm39)	T187A	probably damaging	Het
Ticrr	A	G	7: 79,344,919 (GRCm39)	S1595G	probably benign	Het
Tiprl	A	G	1: 165,064,315 (GRCm39)	S30P	probably damaging	Het
Ttl	T	C	2: 128,917,990 (GRCm39)	S151P	probably damaging	Het
Ttn	T	A	2: 76,583,334 (GRCm39)	T22520S	probably damaging	Het
Vmn1r62	T	A	7: 5,678,567 (GRCm39)	Y83N	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
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

2015-12-18