Mutagenetix > Incidental Mutations

Incidental Mutation 'R6183:Usp54'

487636

Institutional Source

Beutler Lab

Gene Symbol

Usp54

Ensembl Gene

ENSMUSG00000034235

Gene Name

ubiquitin specific peptidase 54

Synonyms

C030002J06Rik, 4930429G18Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6183 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20548912-20641063 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20552245 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 1346 (R1346G)

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: R1346G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022356
Gene: ENSMUSG00000034235
AA Change: R1346G

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: R1346G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000036214
Gene: ENSMUSG00000034235
AA Change: R1346G

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548H24Rik	T	C	5: 31,487,976	Y358H	probably damaging	Het
5830411N06Rik	A	G	7: 140,296,034	T404A	possibly damaging	Het
Abcb4	T	A	5: 8,918,718	D352E	probably benign	Het
Adgrb3	T	A	1: 25,094,370	I972L	probably damaging	Het
Alg3	T	C	16: 20,610,641	Y33C	probably benign	Het
Atp1a3	C	T	7: 24,981,752	G816D	probably damaging	Het
Ces1g	C	T	8: 93,331,239	V145M	possibly damaging	Het
Clip1	A	G	5: 123,642,604	S339P	probably damaging	Het
Col2a1	G	T	15: 97,988,790	T378N	unknown	Het
Dennd4b	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAGCAG	3: 90,275,568		probably benign	Het
Dnah12	T	A	14: 26,861,769	L3207Q	probably damaging	Het
Efcab5	T	C	11: 77,137,258	T416A	probably benign	Het
Ephb1	A	T	9: 102,195,325	I85N	probably damaging	Het
Etnppl	T	C	3: 130,620,317	C22R	probably damaging	Het
F830016B08Rik	A	G	18: 60,299,877	T11A	probably benign	Het
Gm5458	C	A	14: 19,599,644	V171L	probably damaging	Het
Helb	G	T	10: 120,112,998		probably null	Het
Hnrnpll	A	G	17: 80,049,876	V237A	possibly damaging	Het
Hps3	T	C	3: 20,008,868	T712A	probably benign	Het
Ibsp	A	G	5: 104,306,030	E78G	possibly damaging	Het
Ighv1-62-2	G	A	12: 115,446,436	A111V	probably damaging	Het
Igkv4-63	G	T	6: 69,378,124	Q58K	probably damaging	Het
Iqcg	T	C	16: 33,030,923	Y226C	probably damaging	Het
Khdc1a	A	T	1: 21,350,108	D30V	possibly damaging	Het
Krtap5-5	C	A	7: 142,229,787	C42F	unknown	Het
Lmod3	T	C	6: 97,252,553	N7D	probably damaging	Het
Lvrn	A	G	18: 46,850,685	N165S	probably benign	Het
Ms4a4c	A	G	19: 11,426,229	T192A	possibly damaging	Het
Ncald	A	T	15: 37,397,232	V68D	probably damaging	Het
Olfr1507	T	A	14: 52,490,731	T78S	probably benign	Het
Pcdhgb7	A	T	18: 37,752,262	I162F	probably damaging	Het
Prokr1	T	C	6: 87,588,852	T4A	possibly damaging	Het
Qrich2	T	A	11: 116,458,129		probably benign	Het
Rgl1	C	T	1: 152,586,570	E60K	possibly damaging	Het
Rtn1	A	T	12: 72,408,491	W21R	probably benign	Het
Spast	A	G	17: 74,373,358	I438M	probably damaging	Het
Sptbn5	C	T	2: 120,059,417		probably benign	Het
Sry	C	G	Y: 2,662,975	Q228H	unknown	Het
Tas1r1	A	G	4: 152,032,541	I212T	probably damaging	Het
Tbc1d1	A	G	5: 64,275,425	N439D	probably damaging	Het
Tjp2	C	T	19: 24,100,791	A913T	probably damaging	Het
Tnfrsf26	A	G	7: 143,611,757	L47P	probably damaging	Het
Unc13a	A	T	8: 71,644,666	S1195T	probably damaging	Het
Vmn1r54	T	A	6: 90,269,290	M62K	possibly damaging	Het
Vmn2r125	A	T	4: 156,350,069	D50V	probably damaging	Het
Vmn2r66	T	C	7: 84,995,558	D548G	possibly damaging	Het
Vmn2r95	T	A	17: 18,443,930	N470K	probably damaging	Het
Zc3h7a	A	T	16: 11,147,370	I633N	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
R6074:Usp54	UTSW	14	20552099	missense	probably benign	0.02
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
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'- CAGGAGGTATACTGATTTGACCC -3'
(R):5'- AGGCATTTCCTAGGAAGGCC -3'

Sequencing Primer
(F):5'- CTGATTTGACCCTGAAAAAGAATGAC -3'
(R):5'- CATCCTGCCATGTTAACC -3'

Posted On

2017-10-10