Mutagenetix > Incidental Mutations

Incidental Mutation 'R6074:Usp54'

482663

Institutional Source

Beutler Lab

Gene Symbol

Usp54

Ensembl Gene

ENSMUSG00000034235

Gene Name

ubiquitin specific peptidase 54

Synonyms

C030002J06Rik, 4930429G18Rik

MMRRC Submission

044235-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6074 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20548912-20641063 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 20552099 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 1394 (M1394I)

Ref Sequence

ENSEMBL: ENSMUSP00000036214 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000022356
AA Change: M1394I

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000022356
Gene: ENSMUSG00000034235
AA Change: M1394I

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: M1394I

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000036214
Gene: ENSMUSG00000034235
AA Change: M1394I

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

0.0834

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

97% (61/63)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amigo1	T	A	3: 108,191,693	C189*	probably null	Het
Auts2	G	T	5: 131,476,989		probably benign	Het
Cadps2	C	A	6: 23,626,671	W177L	probably damaging	Het
Camk2b	G	T	11: 5,989,635	P223Q	probably damaging	Het
Ccdc74a	C	A	16: 17,646,727	S9*	probably null	Het
Ccnt1	A	C	15: 98,543,324	Y688D	probably damaging	Het
Cdhr1	T	C	14: 37,079,643	N781S	probably benign	Het
Ceacam3	C	T	7: 17,151,559	T29I	probably benign	Het
Cep170b	T	C	12: 112,744,155	S1473P	probably damaging	Het
Col19a1	T	A	1: 24,526,483	T256S	unknown	Het
Eif2d	T	A	1: 131,166,342	D423E	probably damaging	Het
Fam13a	A	G	6: 58,989,738		probably null	Het
Fam84a	G	A	12: 14,150,511	H72Y	probably benign	Het
Gaa	G	A	11: 119,284,186	R871H	probably benign	Het
Galnt12	T	A	4: 47,112,405	V37D	probably damaging	Het
Glp2r	A	G	11: 67,746,814	S13P	unknown	Het
Gnptab	C	T	10: 88,433,078	L548F	probably damaging	Het
Heg1	C	T	16: 33,727,203	P787S	possibly damaging	Het
Hivep2	T	A	10: 14,131,741	M1361K	probably benign	Het
Hivep3	T	C	4: 120,097,694	I1069T	possibly damaging	Het
Hspg2	A	G	4: 137,540,735	D2121G	probably benign	Het
Htatip2	A	G	7: 49,772,574		probably null	Het
Ighv1-75	T	C	12: 115,834,387	S4G	probably benign	Het
Ip6k1	A	G	9: 108,024,109		probably benign	Het
Kcna6	A	G	6: 126,739,279	S216P	probably benign	Het
Kif21a	T	A	15: 90,980,892	T526S	probably benign	Het
Kng2	C	T	16: 23,000,596	G230D	probably benign	Het
Lgi2	A	T	5: 52,546,642	F216I	probably benign	Het
Lss	T	A	10: 76,543,859	N383K	probably damaging	Het
Mical1	T	C	10: 41,486,065	M929T	probably benign	Het
Mroh2a	A	G	1: 88,258,664	S64G	probably benign	Het
Nat8f4	A	G	6: 85,901,187	V118A	probably damaging	Het
Olfr1198	A	C	2: 88,746,222	L222R	probably damaging	Het
Olfr1416	G	A	1: 92,479,775	T282M	probably benign	Het
Olfr16	T	A	1: 172,957,378	N194K	probably benign	Het
Osbpl11	T	A	16: 33,209,965	S188T	probably benign	Het
Pea15a	C	T	1: 172,199,185	R85H	possibly damaging	Het
Ppp1r13b	A	G	12: 111,832,402	I919T	probably damaging	Het
Rasgrf1	A	G	9: 89,953,915	D232G	probably benign	Het
Rp1	A	G	1: 4,345,379	S1837P	probably benign	Het
Samd5	T	A	10: 9,674,590	Y125F	possibly damaging	Het
Skint5	T	C	4: 113,805,200	T597A	unknown	Het
Slc25a12	A	G	2: 71,276,454	F605L	probably benign	Het
Slc39a12	C	T	2: 14,407,479	Q321*	probably null	Het
Slc6a19	T	C	13: 73,689,763	S206G	probably benign	Het
Tacc2	T	A	7: 130,625,435	H1283Q	possibly damaging	Het
Thumpd3	A	G	6: 113,060,010	E290G	possibly damaging	Het
Timd2	C	T	11: 46,687,172	G44D	possibly damaging	Het
Tmem74	A	G	15: 43,866,738	V303A	possibly damaging	Het
Tpo	A	G	12: 30,078,187	V785A	probably benign	Het
Tpra1	T	A	6: 88,911,937	I367N	possibly damaging	Het
Txnrd2	T	C	16: 18,437,547	I95T	probably damaging	Het
Usp32	A	G	11: 84,994,573	V1216A	probably benign	Het
Vmn2r13	A	G	5: 109,174,301	F177L	probably benign	Het
Vmn2r82	T	A	10: 79,396,543	V792E	probably damaging	Het
Wdfy4	C	T	14: 33,083,639		probably null	Het
Wnk2	A	T	13: 49,051,399	C458S	probably damaging	Het
Xkr6	T	G	14: 63,607,070	F181V	possibly damaging	Het
Zfp212	T	A	6: 47,927,052	C149*	probably null	Het
Zfp647	G	A	15: 76,912,085	P125L	probably damaging	Het
Zfp661	A	G	2: 127,577,873	S116P	probably benign	Het
Zfp770	A	G	2: 114,196,389	Y400H	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
IGL02970:Usp54	APN	14	20577472	missense	probably damaging	1.00
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
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	not run
R8775:Usp54	UTSW	14	20588398	missense	not run
R8775-TAIL:Usp54	UTSW	14	20588398	missense	not run
RF004:Usp54	UTSW	14	20561300	missense	possibly damaging	0.90
X0024:Usp54	UTSW	14	20577251	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- CTCAGGAGTGAAGCAAGGTATC -3'
(R):5'- ACATCCTGCCATGTTAACCC -3'

Posted On

2017-07-14