Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02272:Usp50'

287193

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Usp50

Ensembl Gene

ENSMUSG00000027364

Gene Name

ubiquitin specific peptidase 50

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02272

Quality Score

Status

Chromosome

Chromosomal Location

126709096-126783470 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 126769944 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 232 (T232I)

Ref Sequence

ENSEMBL: ENSMUSP00000121578 (fasta)

Gene Model

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

AlphaFold

Q6P8X6

Predicted Effect

probably damaging
Transcript: ENSMUST00000028842
AA Change: T287I

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000028842
Gene: ENSMUSG00000027364
AA Change: T287I

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

unknown
Transcript: ENSMUST00000130356
AA Change: T226I

SMART Domains

Protein: ENSMUSP00000116873
Gene: ENSMUSG00000027364
AA Change: T226I

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 damaging
Transcript: ENSMUST00000136319
AA Change: T232I

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121578
Gene: ENSMUSG00000027364
AA Change: T232I

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	T	A	17: 57,450,021	C759*	probably null	Het
Adgrg6	T	A	10: 14,468,829	M127L	probably damaging	Het
AI314180	A	T	4: 58,811,731	N1439K	probably benign	Het
Anxa9	A	G	3: 95,305,894	V47A	probably benign	Het
Arhgef12	T	A	9: 43,001,452	D483V	probably damaging	Het
Arrdc3	C	A	13: 80,891,650		probably benign	Het
Ccdc169	A	G	3: 55,150,748	E67G	probably damaging	Het
Ccdc191	T	A	16: 43,960,022	V731D	possibly damaging	Het
Cdh3	G	T	8: 106,547,836		probably null	Het
Cntnap1	G	A	11: 101,178,316	V199M	probably damaging	Het
Cntnap3	A	T	13: 64,757,411	V852E	probably damaging	Het
Csmd1	A	T	8: 16,199,893	S1024T	probably damaging	Het
Cyp3a25	T	C	5: 145,993,265		probably benign	Het
Dusp6	T	A	10: 99,266,019	V289D	probably damaging	Het
Epha6	C	T	16: 59,818,937	R858Q	probably damaging	Het
Flrt2	T	A	12: 95,779,704	F272Y	probably damaging	Het
Gbf1	T	A	19: 46,269,803	W846R	probably damaging	Het
Gtpbp2	T	A	17: 46,164,781	V152E	probably benign	Het
Hmces	A	G	6: 87,917,855		probably null	Het
Hsph1	A	G	5: 149,617,530	S852P	probably benign	Het
Kat6b	A	C	14: 21,626,778	K394Q	probably damaging	Het
Kdr	G	A	5: 75,961,840	T475I	probably benign	Het
Klhl25	A	G	7: 75,866,620	T425A	probably benign	Het
Klk1b8	T	A	7: 43,952,793	C50S	probably damaging	Het
Kri1	T	C	9: 21,276,168	Y343C	probably damaging	Het
Lamb1	T	C	12: 31,305,769	S953P	probably benign	Het
Lpin1	A	G	12: 16,547,600	V681A	probably damaging	Het
Lpin3	A	G	2: 160,901,661	T508A	probably benign	Het
Moxd1	T	A	10: 24,282,700	Y417*	probably null	Het
Mthfd1l	T	G	10: 4,041,812	I588S	probably damaging	Het
Myo5c	C	A	9: 75,266,160	N543K	possibly damaging	Het
Myo9a	T	A	9: 59,884,600		probably benign	Het
Nme8	T	C	13: 19,658,826	Y393C	probably damaging	Het
Nr2e1	T	G	10: 42,567,979	N249T	probably damaging	Het
Pex11g	A	G	8: 3,465,898	V45A	probably benign	Het
Pkhd1	C	A	1: 20,209,260	G2945W	probably damaging	Het
Plxnd1	A	G	6: 115,993,628	F393S	probably damaging	Het
Ppp3cc	A	G	14: 70,236,489	V353A	probably damaging	Het
Prss16	T	A	13: 22,003,035	Q455L	probably damaging	Het
Ptpn6	A	T	6: 124,721,208	V524E	probably damaging	Het
Rap1gap	A	G	4: 137,716,566	Y163C	probably damaging	Het
Rnf31	C	T	14: 55,598,782	L598F	probably damaging	Het
Sardh	T	G	2: 27,224,991	D550A	probably benign	Het
Serpinc1	T	G	1: 160,999,992	I387S	probably damaging	Het
Sh3d19	A	T	3: 86,121,167	D650V	probably benign	Het
Sipa1l2	T	A	8: 125,492,011	T196S	probably damaging	Het
Slc25a46	T	C	18: 31,583,568	T294A	probably benign	Het
Srrm2	T	C	17: 23,815,782		probably benign	Het
Steap2	T	A	5: 5,677,612	N241I	probably benign	Het
Tcaf3	T	C	6: 42,596,660	Y206C	probably damaging	Het
Tmem259	T	A	10: 79,978,463	Q322L	probably damaging	Het
Tnni2	C	A	7: 142,443,429	Q52K	possibly damaging	Het
Ttn	A	G	2: 76,735,028	V28285A	possibly damaging	Het
Uba7	T	A	9: 107,976,153	S99R	probably benign	Het
Ubxn2b	A	T	4: 6,216,071	K331N	probably damaging	Het
Vmn2r116	G	A	17: 23,385,999	M95I	probably benign	Het
Vmn2r116	T	A	17: 23,386,004	L97Q	probably damaging	Het
Vmn2r24	A	T	6: 123,786,884	N240I	possibly damaging	Het
Vmn2r72	T	C	7: 85,750,693	R383G	probably benign	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
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
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

Posted On

2015-04-16