Mutagenetix > Incidental Mutation

Incidental Mutation 'R1146:Usp50'

102405

Institutional Source

Beutler Lab

Gene Symbol

Usp50

Ensembl Gene

ENSMUSG00000027364

Gene Name

ubiquitin specific peptidase 50

Synonyms

MMRRC Submission

039219-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1146 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126709096-126783470 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126709472 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 29 (Y29C)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028841] [ENSMUST00000110416] [ENSMUST00000136319]

AlphaFold

Q6P8X6

Predicted Effect

probably benign
Transcript: ENSMUST00000028841

SMART Domains

Protein: ENSMUSP00000028841
Gene: ENSMUSG00000027363

Domain	Start	End	E-Value	Type
Pfam:USP8_dimer	6	116	2.3e-37	PFAM
low complexity region	119	140	N/A	INTRINSIC
RHOD	185	310	3.69e-7	SMART
low complexity region	378	393	N/A	INTRINSIC
coiled coil region	467	501	N/A	INTRINSIC
low complexity region	642	657	N/A	INTRINSIC
Pfam:UCH	738	1068	4e-88	PFAM
Pfam:UCH_1	739	1053	1.9e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000099423
AA Change: Y29C

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000127386
Gene: ENSMUSG00000027364
AA Change: Y29C

Domain	Start	End	E-Value	Type
Pfam:RNA_pol_N	1	59	6.2e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110416

SMART Domains

Protein: ENSMUSP00000106046
Gene: ENSMUSG00000027363

Domain	Start	End	E-Value	Type
Pfam:USP8_dimer	6	127	2.5e-36	PFAM
low complexity region	130	151	N/A	INTRINSIC
RHOD	196	321	3.69e-7	SMART
low complexity region	389	404	N/A	INTRINSIC
coiled coil region	478	512	N/A	INTRINSIC
low complexity region	653	668	N/A	INTRINSIC
Pfam:UCH	749	1079	1.3e-82	PFAM
Pfam:UCH_1	750	1064	3.7e-27	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: ENSMUST00000138859

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188689

Meta Mutation Damage Score

0.2178

Coding Region Coverage

1x: 99.4%
3x: 97.6%
10x: 85.8%
20x: 55.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,531,676	V1848E	probably damaging	Het
Alpk3	A	G	7: 81,077,595	K158E	probably damaging	Het
Arrdc4	T	A	7: 68,740,008	E356D	probably damaging	Het
Asb4	A	G	6: 5,423,591	N246S	probably damaging	Het
Ctsj	G	A	13: 61,002,498	P230L	probably benign	Het
Eme1	A	G	11: 94,645,451	L564P	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fzd2	A	T	11: 102,605,380	S217C	possibly damaging	Het
Gaa	G	T	11: 119,274,904	R81L	probably damaging	Het
Gfral	A	G	9: 76,167,059	V368A	probably benign	Het
Gm21738	T	C	14: 19,415,963	K192R	probably benign	Het
Gucy1a2	T	A	9: 3,759,830	N545K	probably damaging	Het
Herc2	T	C	7: 56,146,696	S1939P	probably benign	Het
Ifnk	T	C	4: 35,152,231	I53T	probably benign	Het
Iqub	G	A	6: 24,505,628	L94F	possibly damaging	Het
Kpna1	C	T	16: 36,033,379	R460*	probably null	Het
Masp1	T	C	16: 23,492,115	E189G	probably damaging	Het
Mogat1	A	G	1: 78,523,613	I105V	probably benign	Het
Msh2	C	A	17: 87,680,060	D209E	probably benign	Het
Nsf	G	A	11: 103,828,538	T646I	probably damaging	Het
Olfr1257	C	T	2: 89,881,206	P127S	probably damaging	Het
Olfr1416	G	A	1: 92,479,890	H244Y	probably damaging	Het
Olfr1449	T	A	19: 12,934,965	S76T	possibly damaging	Het
Olfr980	A	T	9: 40,006,094	V285D	possibly damaging	Het
Otogl	T	A	10: 107,886,513	I327F	probably damaging	Het
Pappa2	T	C	1: 158,854,982	D832G	probably damaging	Het
Pfkfb4	A	G	9: 109,007,726	E163G	probably benign	Het
Phc1	T	C	6: 122,323,457		probably benign	Het
Piwil1	T	C	5: 128,747,893	S552P	probably benign	Het
Ppfia3	A	C	7: 45,352,215	D424E	probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rbsn	A	G	6: 92,201,730		probably null	Het
Rexo1	C	T	10: 80,544,405	S919N	probably benign	Het
Sec31a	T	C	5: 100,362,173	N1152D	probably damaging	Het
Sel1l3	A	T	5: 53,117,103	F1012I	possibly damaging	Het
Sema4c	A	G	1: 36,550,565	V539A	probably benign	Het
Sf3b5	A	G	10: 13,008,831	E70G	possibly damaging	Het
Tmcc2	TTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGC	1: 132,357,755		probably benign	Het
Tor1aip2	T	C	1: 156,064,737	V263A	possibly damaging	Het
Unc45b	A	G	11: 82,922,907	E380G	probably damaging	Het
Usp16	C	T	16: 87,474,648	T364M	possibly damaging	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,359,988		probably benign	Het
Wwox	T	C	8: 114,712,036	S281P	probably damaging	Het
Zfp110	A	G	7: 12,846,794		probably null	Het
Zfp335	G	A	2: 164,896,123	A856V	probably benign	Het
Zfp652	G	A	11: 95,749,782	E178K	possibly damaging	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
R1457:Usp50	UTSW	2	126761634	missense	probably benign	0.41
R1475:Usp50	UTSW	2	126769867	splice site	probably null
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
R8856:Usp50	UTSW	2	126780557	missense	probably damaging	0.99
R9449:Usp50	UTSW	2	126777897	critical splice donor site	probably null
X0064:Usp50	UTSW	2	126761646	nonsense	probably null

Predicted Primers

Posted On

2014-01-15