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

C030002J06Rik, 4930429G18Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02970

Quality Score

Status

Chromosome

Chromosomal Location

20548912-20641063 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 20577472 bp (GRCm38)

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: 53,187,589	G5S	probably damaging	Het
A2ml1	A	T	6: 128,569,979	F396I	probably damaging	Het
BC051019	T	A	7: 109,716,055	N331I	probably benign	Het
Crocc	G	A	4: 141,030,246	S912L	possibly damaging	Het
Dcaf4	A	G	12: 83,529,215	D46G	probably damaging	Het
Dido1	C	T	2: 180,689,415	R80Q	probably damaging	Het
Dnase2b	A	G	3: 146,582,506	V278A	probably damaging	Het
Drosha	C	T	15: 12,913,956	L1106F	probably damaging	Het
Dsc3	C	A	18: 19,968,260	W692L	probably damaging	Het
F2	T	A	2: 91,625,551	Y579F	possibly damaging	Het
Fam126b	T	C	1: 58,539,617	E258G	probably damaging	Het
Fam43a	C	T	16: 30,601,104	R169C	probably damaging	Het
Gm9772	A	G	17: 22,006,559	F120S	probably damaging	Het
Gsdma3	T	C	11: 98,632,993	S251P	probably benign	Het
Itgam	G	A	7: 128,086,043	E443K	probably benign	Het
Kif18a	T	C	2: 109,287,888	V16A	probably damaging	Het
Lrrn3	T	G	12: 41,452,360	S653R	probably benign	Het
Map1b	A	T	13: 99,430,734	Y1826*	probably null	Het
Mbnl1	T	C	3: 60,613,423	F139S	probably damaging	Het
Micu3	T	C	8: 40,382,130	Y509H	possibly damaging	Het
Ncmap	T	C	4: 135,377,018	T17A	probably damaging	Het
Oas1h	T	A	5: 120,861,635	M61K	possibly damaging	Het
Otog	T	A	7: 46,295,867	W2183R	probably benign	Het
Pcdh15	T	C	10: 74,290,962		probably benign	Het
Plekho1	C	T	3: 95,990,902	V150I	probably damaging	Het
Ppargc1b	A	G	18: 61,298,766	S1004P	probably damaging	Het
Prf1	T	C	10: 61,300,178	S78P	probably benign	Het
Prss12	A	G	3: 123,482,762	S347G	probably benign	Het
Rai1	T	C	11: 60,185,733	S208P	probably damaging	Het
Sgms1	A	G	19: 32,159,765	Y134H	probably damaging	Het
Sult2a4	A	G	7: 13,909,906		probably benign	Het
T	C	T	17: 8,435,385	A134V	probably damaging	Het
Thoc5	A	G	11: 4,904,201	T187A	probably damaging	Het
Ticrr	A	G	7: 79,695,171	S1595G	probably benign	Het
Tiprl	A	G	1: 165,236,746	S30P	probably damaging	Het
Ttl	T	C	2: 129,076,070	S151P	probably damaging	Het
Ttn	T	A	2: 76,752,990	T22520S	probably damaging	Het
Vmn1r62	T	A	7: 5,675,568	Y83N	possibly damaging	Het

Other mutations in Usp54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Usp54	APN	14	20573837	missense	probably damaging	1.00
IGL01090:Usp54	APN	14	20586157	unclassified	probably benign
IGL02030:Usp54	APN	14	20565946	missense	probably benign	0.44
IGL02333:Usp54	APN	14	20589395	missense	probably damaging	1.00
IGL02642:Usp54	APN	14	20565072	splice site	probably benign
IGL03371:Usp54	APN	14	20589368	unclassified	probably benign
BB003:Usp54	UTSW	14	20576968	missense	probably damaging	1.00
BB013:Usp54	UTSW	14	20576968	missense	probably damaging	1.00
R0050:Usp54	UTSW	14	20573755	unclassified	probably benign
R0383:Usp54	UTSW	14	20561252	missense	probably benign	0.00
R0427:Usp54	UTSW	14	20570364	missense	probably benign
R0442:Usp54	UTSW	14	20607209	missense	probably damaging	1.00
R0574:Usp54	UTSW	14	20556254	missense	probably benign	0.00
R0638:Usp54	UTSW	14	20589369	unclassified	probably benign
R0789:Usp54	UTSW	14	20562157	missense	probably benign	0.01
R1272:Usp54	UTSW	14	20561110	missense	probably damaging	0.99
R1463:Usp54	UTSW	14	20550190	missense	probably benign	0.15
R1565:Usp54	UTSW	14	20607159	missense	probably damaging	1.00
R1721:Usp54	UTSW	14	20583440	nonsense	probably null
R1922:Usp54	UTSW	14	20560904	missense	probably benign	0.00
R2068:Usp54	UTSW	14	20577205	missense	probably damaging	1.00
R2216:Usp54	UTSW	14	20561840	missense	probably benign
R2285:Usp54	UTSW	14	20561178	missense	possibly damaging	0.52
R2426:Usp54	UTSW	14	20564940	missense	probably benign	0.00
R3855:Usp54	UTSW	14	20588420	missense	probably damaging	1.00
R3856:Usp54	UTSW	14	20588420	missense	probably damaging	1.00
R3907:Usp54	UTSW	14	20586113	missense	probably damaging	1.00
R4367:Usp54	UTSW	14	20561134	missense	probably benign	0.02
R4384:Usp54	UTSW	14	20550085	splice site	probably null
R4555:Usp54	UTSW	14	20561022	missense	probably benign	0.06
R4617:Usp54	UTSW	14	20550338	missense	probably benign	0.04
R4659:Usp54	UTSW	14	20564992	missense	probably damaging	1.00
R4672:Usp54	UTSW	14	20581529	intron	probably benign
R4928:Usp54	UTSW	14	20562192	missense	probably damaging	1.00
R5381:Usp54	UTSW	14	20586076	missense	probably damaging	1.00
R5408:Usp54	UTSW	14	20550433	missense	probably damaging	1.00
R5630:Usp54	UTSW	14	20565057	missense	probably damaging	1.00
R5841:Usp54	UTSW	14	20550283	missense	probably benign	0.04
R5886:Usp54	UTSW	14	20561842	missense	probably benign	0.28
R5922:Usp54	UTSW	14	20552071	splice site	probably null
R5975:Usp54	UTSW	14	20583351	missense	possibly damaging	0.77
R6074:Usp54	UTSW	14	20552099	missense	probably benign	0.02
R6183:Usp54	UTSW	14	20552245	missense	probably damaging	0.99
R6234:Usp54	UTSW	14	20583450	missense	probably damaging	1.00
R6303:Usp54	UTSW	14	20560968	missense	possibly damaging	0.95
R6304:Usp54	UTSW	14	20560968	missense	possibly damaging	0.95
R6695:Usp54	UTSW	14	20560869	missense	possibly damaging	0.94
R6774:Usp54	UTSW	14	20577228	missense	probably damaging	1.00
R6941:Usp54	UTSW	14	20562109	missense	probably benign
R7133:Usp54	UTSW	14	20561242	missense	probably benign	0.00
R7196:Usp54	UTSW	14	20588370	missense	probably damaging	1.00
R7409:Usp54	UTSW	14	20552245	missense	probably damaging	0.99
R7424:Usp54	UTSW	14	20577040	missense	probably benign	0.15
R7859:Usp54	UTSW	14	20588136	missense	probably benign	0.24
R7926:Usp54	UTSW	14	20576968	missense	probably damaging	1.00
R7954:Usp54	UTSW	14	20561913	missense	probably benign	0.01
R8489:Usp54	UTSW	14	20561536	missense	probably benign	0.31
R8745:Usp54	UTSW	14	20562108	missense	probably benign	0.00
R8775:Usp54	UTSW	14	20588398	missense	probably benign	0.03
R8775-TAIL:Usp54	UTSW	14	20588398	missense	probably benign	0.03
R9080:Usp54	UTSW	14	20562240	missense	probably damaging	1.00
R9121:Usp54	UTSW	14	20581455	critical splice donor site	probably null
R9139:Usp54	UTSW	14	20577094	missense	probably benign	0.00
R9433:Usp54	UTSW	14	20561610	missense	probably benign
R9613:Usp54	UTSW	14	20550370	missense	probably damaging	0.97
RF004:Usp54	UTSW	14	20561300	missense	possibly damaging	0.90
X0024:Usp54	UTSW	14	20577251	small deletion	probably benign

Posted On

2015-12-18