Mutagenetix > Incidental Mutations

Incidental Mutation 'R1475:Usp50'

163980

Institutional Source

Beutler Lab

Gene Symbol

Usp50

Ensembl Gene

ENSMUSG00000027364

Gene Name

ubiquitin specific peptidase 50

Synonyms

MMRRC Submission

039528-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1475 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126709096-126783470 bp(-) (GRCm38)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

T to C at 126769867 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116873 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028842] [ENSMUST00000130356] [ENSMUST00000136319]

Predicted Effect

probably null
Transcript: ENSMUST00000028842

SMART Domains

Protein: ENSMUSP00000028842
Gene: ENSMUSG00000027364

Domain	Start	End	E-Value	Type
Pfam:UCH	44	360	9.2e-67	PFAM
Pfam:UCH_1	45	342	2.8e-24	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000130356

SMART Domains

Protein: ENSMUSP00000116873
Gene: ENSMUSG00000027364

Domain	Start	End	E-Value	Type
Pfam:UCH	8	183	1.5e-20	PFAM
Pfam:UCH_1	22	194	3.1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136319

SMART Domains

Protein: ENSMUSP00000121578
Gene: ENSMUSG00000027364

Domain	Start	End	E-Value	Type
Pfam:UCH	1	268	1.9e-39	PFAM
Pfam:UCH_1	1	269	1.3e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145194

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

96% (46/48)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018B08Rik	A	T	8: 121,540,588		probably benign	Het
9230112D13Rik	T	A	14: 34,512,055	D93V	unknown	Het
Aatk	G	A	11: 120,010,888	T894M	probably damaging	Het
Acacb	T	C	5: 114,195,252	I479T	possibly damaging	Het
Acap3	T	C	4: 155,902,821	I431T	probably damaging	Het
Adgrl1	A	G	8: 83,938,350	K1267R	possibly damaging	Het
Bphl	A	C	13: 34,060,524	D208A	probably benign	Het
C2cd5	T	C	6: 143,072,572	D308G	possibly damaging	Het
Camsap3	C	T	8: 3,604,708	R782C	probably damaging	Het
Cdk11b	G	A	4: 155,634,217	R208H	probably damaging	Het
Cfap44	T	C	16: 44,433,812		probably benign	Het
Chrna4	T	C	2: 181,029,379	S195G	probably benign	Het
Cpsf2	T	C	12: 101,985,236	L144S	probably damaging	Het
Creld2	G	A	15: 88,820,631	W103*	probably null	Het
Dffa	T	A	4: 149,117,478	L171Q	probably damaging	Het
Emcn	C	T	3: 137,379,907	H89Y	possibly damaging	Het
Espn	G	A	4: 152,134,271	P452S	probably damaging	Het
Fam78b	T	A	1: 167,001,777	I71N	probably damaging	Het
Fam89b	A	G	19: 5,729,419	S37P	probably damaging	Het
Fat4	G	A	3: 38,888,323	R455H	probably damaging	Het
Fbxo6	A	G	4: 148,146,110	F232L	probably benign	Het
Fcamr	T	A	1: 130,814,484		probably null	Het
Fermt3	T	C	19: 7,018,874		probably null	Het
Fsip2	A	T	2: 82,987,195	D4424V	probably damaging	Het
Gaa	G	A	11: 119,274,316		probably null	Het
Glce	T	C	9: 62,060,928	T314A	possibly damaging	Het
Hdac5	T	C	11: 102,202,186	Q575R	possibly damaging	Het
Il23r	C	A	6: 67,452,296		probably null	Het
Kcnj4	T	A	15: 79,484,630	E383V	probably damaging	Het
Lrsam1	G	T	2: 32,954,265	Q115K	possibly damaging	Het
Lyst	T	A	13: 13,708,212		probably null	Het
Myf5	A	G	10: 107,484,654	V190A	probably benign	Het
Nmnat2	G	A	1: 153,074,695	R42H	probably damaging	Het
Olfr1051	A	T	2: 86,275,561	*309R	probably null	Het
Olfr901	T	A	9: 38,430,864	V194D	probably benign	Het
Osbpl1a	T	A	18: 12,757,680	K380M	probably damaging	Het
Pgd	T	C	4: 149,156,775	T226A	probably benign	Het
Pitpnm3	T	C	11: 72,074,627	T127A	probably damaging	Het
Plekhm2	T	C	4: 141,627,854	D954G	possibly damaging	Het
Pramef17	T	C	4: 143,994,312	K20E	probably benign	Het
Rasal1	T	A	5: 120,662,982	F236I	possibly damaging	Het
Stab1	T	C	14: 31,163,828	N63S	probably benign	Het
Syf2	T	A	4: 134,935,434	M145K	possibly damaging	Het
Usp34	C	A	11: 23,473,253	L3152I	probably damaging	Het
Wdfy4	A	T	14: 33,108,688	I929N	probably benign	Het
Zfp874b	A	T	13: 67,474,092		probably null	Het

Other mutations in Usp50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01017:Usp50	APN	2	126709414	missense	probably damaging	0.98
IGL01565:Usp50	APN	2	126777968	nonsense	probably null
IGL01976:Usp50	APN	2	126709466	missense	probably benign	0.10
IGL02192:Usp50	APN	2	126778038	missense	possibly damaging	0.94
IGL02272:Usp50	APN	2	126769944	missense	probably damaging	0.98
IGL02892:Usp50	APN	2	126769902	missense	probably damaging	1.00
PIT4453001:Usp50	UTSW	2	126783316	start gained	probably benign
R0034:Usp50	UTSW	2	126777975	missense	possibly damaging	0.89
R0382:Usp50	UTSW	2	126777928	missense	probably damaging	1.00
R0433:Usp50	UTSW	2	126761544	missense	probably damaging	0.98
R1146:Usp50	UTSW	2	126709472	missense	probably benign	0.02
R1457:Usp50	UTSW	2	126761634	missense	probably benign	0.41
R1758:Usp50	UTSW	2	126775862	missense	probably damaging	1.00
R1889:Usp50	UTSW	2	126777898	critical splice donor site	probably null
R1940:Usp50	UTSW	2	126778023	missense	probably benign	0.03
R1959:Usp50	UTSW	2	126777961	missense	possibly damaging	0.91
R2698:Usp50	UTSW	2	126778029	missense	probably damaging	0.97
R4648:Usp50	UTSW	2	126778033	missense	probably damaging	0.98
R4809:Usp50	UTSW	2	126777853	intron	probably benign
R6247:Usp50	UTSW	2	126775793	missense	probably benign	0.33
R7030:Usp50	UTSW	2	126780475	missense	possibly damaging	0.78
R7186:Usp50	UTSW	2	126783298	start gained	probably benign
R7522:Usp50	UTSW	2	126783226	missense	probably damaging	1.00
R8110:Usp50	UTSW	2	126780330	splice site	probably null
X0064:Usp50	UTSW	2	126761646	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGCATGGAGTCTCGGAACTGTTAG -3'
(R):5'- AATGTGTTCAGGCGTGTGGACC -3'

Sequencing Primer
(F):5'- CTCGGAACTGTTAGTACCTAGTGTG -3'
(R):5'- TCGAGGCTTACAGACATCCTG -3'

Posted On

2014-03-28