Mutagenetix > Incidental Mutations

Incidental Mutation 'R0427:Usp54'

38779

Institutional Source

Beutler Lab

Gene Symbol

Usp54

Ensembl Gene

ENSMUSG00000034235

Gene Name

ubiquitin specific peptidase 54

Synonyms

C030002J06Rik, 4930429G18Rik

MMRRC Submission

038629-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0427 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20548912-20641063 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20570364 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 691 (V691A)

Ref Sequence

ENSEMBL: ENSMUSP00000036214 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000022356
AA Change: V691A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022356
Gene: ENSMUSG00000034235
AA Change: V691A

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: V691A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000036214
Gene: ENSMUSG00000034235
AA Change: V691A

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: ENSMUST00000124940

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128848

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141265

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223899

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224755

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225721

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	T	G	8: 43,652,456	T51P	probably benign	Het
Alpk1	A	T	3: 127,671,071	V1186E	probably damaging	Het
Ankfn1	T	C	11: 89,405,597	D102G	probably damaging	Het
Armc2	A	G	10: 42,000,410	I127T	possibly damaging	Het
Atp6v1b2	T	C	8: 69,101,432	L87P	probably damaging	Het
Atp9a	T	A	2: 168,640,697		probably null	Het
BC048679	C	G	7: 81,495,245	V123L	probably benign	Het
Birc7	G	A	2: 180,929,514		probably null	Het
Btbd9	C	T	17: 30,274,942	D492N	possibly damaging	Het
Cacna1d	T	A	14: 30,346,817	N155I	probably damaging	Het
Cd300lg	T	C	11: 102,043,026	V33A	probably damaging	Het
Cep290	A	G	10: 100,516,179	D742G	probably benign	Het
Cep95	A	G	11: 106,790,752	N14S	probably benign	Het
Cfap74	A	T	4: 155,441,277	M728L	probably benign	Het
Ctsll3	T	A	13: 60,801,391	T9S	probably benign	Het
Cyp3a44	A	G	5: 145,779,602	S393P	possibly damaging	Het
Dmbt1	T	A	7: 131,040,902	L150*	probably null	Het
Dnah2	A	G	11: 69,452,879	I2868T	probably damaging	Het
Dopey1	A	G	9: 86,507,532	H505R	probably damaging	Het
Exo1	A	G	1: 175,905,953	K781R	probably damaging	Het
Fam184a	A	G	10: 53,690,115	Y459H	probably damaging	Het
Foxp1	C	T	6: 98,930,203	D540N	probably damaging	Het
Fstl5	T	A	3: 76,707,727	Y698*	probably null	Het
Gm13088	A	T	4: 143,654,423	N343K	probably benign	Het
Gm5141	T	C	13: 62,774,711	K215E	probably damaging	Het
Gm7102	A	G	19: 61,175,470	Y176H	probably damaging	Het
Grik5	C	A	7: 25,058,498	R386L	probably benign	Het
Ikbke	A	T	1: 131,257,910	S620R	possibly damaging	Het
Kcnh3	A	T	15: 99,233,299	M518L	probably benign	Het
Lrrcc1	G	T	3: 14,558,356	A748S	probably damaging	Het
Mbd5	T	G	2: 49,279,079	S1191A	probably benign	Het
Med27	T	C	2: 29,500,271	I70T	probably damaging	Het
Myh4	A	G	11: 67,258,653	D1737G	probably damaging	Het
Myo5a	A	G	9: 75,174,196	D1021G	probably benign	Het
Ncor1	T	C	11: 62,410,920	E212G	probably damaging	Het
Neb	A	T	2: 52,243,884	N3362K	possibly damaging	Het
Neb	A	G	2: 52,244,069	S3301P	probably damaging	Het
Neurod1	T	G	2: 79,454,182	K286Q	probably damaging	Het
Noc3l	T	C	19: 38,789,651	Q773R	probably benign	Het
Nup205	T	A	6: 35,194,463	N420K	probably benign	Het
Olfml3	A	T	3: 103,737,014	V113E	probably benign	Het
Olfr108	T	A	17: 37,445,702	D60E	probably damaging	Het
Olfr128	A	T	17: 37,923,629	H21L	probably benign	Het
Olfr155	A	G	4: 43,854,417	Y36C	probably damaging	Het
Olfr342	C	T	2: 36,527,982	S190L	probably damaging	Het
Opa1	T	C	16: 29,611,461	V439A	probably damaging	Het
Pcdhb11	T	C	18: 37,422,765	S383P	probably damaging	Het
Pkd1	T	C	17: 24,593,502	V3803A	probably damaging	Het
Plekhg1	A	G	10: 3,964,235	D1319G	probably benign	Het
Polq	T	A	16: 37,061,993	C1227*	probably null	Het
Psmc1	T	C	12: 100,119,228	F283L	probably damaging	Het
Psmd8	T	C	7: 29,176,127	N189S	probably damaging	Het
Ptger4	G	A	15: 5,242,901	T104I	probably benign	Het
Ptpro	T	G	6: 137,368,296	V100G	possibly damaging	Het
Rab11fip1	T	A	8: 27,154,492	T422S	probably damaging	Het
Rad54l2	A	G	9: 106,693,692	L1143P	possibly damaging	Het
Rnf148	A	G	6: 23,654,073	M308T	probably damaging	Het
Sbsn	T	A	7: 30,752,098		probably benign	Het
Scube2	T	A	7: 109,824,837	T487S	probably benign	Het
Sema4c	C	A	1: 36,553,811	E109*	probably null	Het
Sipa1l2	A	T	8: 125,480,332	L544Q	probably damaging	Het
Slc28a2	A	G	2: 122,458,221	T603A	probably benign	Het
Tbc1d7	T	A	13: 43,153,087	T138S	probably benign	Het
Timd4	A	T	11: 46,819,257	T239S	probably benign	Het
Trp53bp1	A	G	2: 121,236,017	S743P	probably damaging	Het
Tspan10	T	A	11: 120,444,294	Y77N	probably damaging	Het
Ttc14	T	C	3: 33,803,484	S245P	probably damaging	Het
Ttf1	T	A	2: 29,065,042	S139R	probably benign	Het
Tubd1	C	A	11: 86,557,790	Q279K	possibly damaging	Het
Twnk	A	G	19: 45,007,587	E153G	probably benign	Het
Ush2a	A	G	1: 188,400,281	D900G	probably damaging	Het
Usp8	T	C	2: 126,718,032		probably benign	Het
Vmn1r231	C	T	17: 20,890,228	V142I	probably benign	Het
Vmn2r15	C	T	5: 109,287,087	A584T	probably damaging	Het
Vmn2r6	A	G	3: 64,559,587	S164P	probably damaging	Het
Vps16	A	G	2: 130,438,850	Y233C	probably benign	Het
Vwf	C	G	6: 125,673,939	H2511D	probably benign	Het
Wipf3	T	G	6: 54,483,897	L110R	possibly damaging	Het
Zfp945	T	A	17: 22,865,252	N11I	probably benign	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
R0050:Usp54	UTSW	14	20573755	unclassified	probably benign
R0383:Usp54	UTSW	14	20561252	missense	probably benign	0.00
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	unclassified	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
X0024:Usp54	UTSW	14	20577251	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- GCTTTTGTGCTCCCGCAACTAAGAC -3'
(R):5'- CTCCAAGGGAAAATGGCATCGTGAC -3'

Sequencing Primer
(F):5'- ggaaatgcagatggttgtgag -3'
(R):5'- CATCGTGACCATAAGGTTAACAG -3'

Posted On

2013-05-23