Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02192:Usp50'

283907

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Usp50

Ensembl Gene

ENSMUSG00000027364

Gene Name

ubiquitin specific peptidase 50

Synonyms

1700086G18Rik, 4930511O11Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02192

Quality Score

Status

Chromosome

Chromosomal Location

126602970-126625380 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 126619958 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 118 (T118I)

Ref Sequence

ENSEMBL: ENSMUSP00000121578 (fasta)

Gene Model

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

AlphaFold

Q6P8X6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028842
AA Change: T173I

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000028842
Gene: ENSMUSG00000027364
AA Change: T173I

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

possibly damaging
Transcript: ENSMUST00000130356
AA Change: T112I

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000116873
Gene: ENSMUSG00000027364
AA Change: T112I

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

possibly damaging
Transcript: ENSMUST00000136319
AA Change: T118I

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000121578
Gene: ENSMUSG00000027364
AA Change: T118I

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: ENSMUST00000151140

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	T	7: 28,597,825 (GRCm39)	M545K	possibly damaging	Het
Adamtsl1	A	G	4: 86,146,253 (GRCm39)	E303G	probably damaging	Het
Anxa13	A	T	15: 58,220,628 (GRCm39)		noncoding transcript	Het
Ap2b1	C	T	11: 83,237,592 (GRCm39)	T552I	possibly damaging	Het
Cars1	T	C	7: 143,125,325 (GRCm39)	S388G	probably damaging	Het
Cdh18	A	T	15: 23,460,402 (GRCm39)	D544V	probably damaging	Het
Chat	T	C	14: 32,145,279 (GRCm39)	R377G	possibly damaging	Het
Col14a1	A	G	15: 55,225,798 (GRCm39)	T154A	unknown	Het
Col9a1	C	T	1: 24,261,068 (GRCm39)	P311S	probably damaging	Het
Cpsf3	G	T	12: 21,360,194 (GRCm39)		probably benign	Het
Cpsf3	G	T	12: 21,360,197 (GRCm39)		probably null	Het
Dock8	T	C	19: 25,055,569 (GRCm39)		probably null	Het
Eml6	A	G	11: 29,755,743 (GRCm39)	I837T	probably benign	Het
Epb41	T	C	4: 131,657,028 (GRCm39)	T792A	probably damaging	Het
Exph5	A	T	9: 53,287,625 (GRCm39)	R1569*	probably null	Het
F13b	A	T	1: 139,445,071 (GRCm39)	T574S	probably damaging	Het
Fam184b	G	T	5: 45,695,062 (GRCm39)	D727E	probably benign	Het
Fhip1a	A	G	3: 85,580,633 (GRCm39)	L524P	possibly damaging	Het
Fhod3	T	C	18: 25,189,415 (GRCm39)	L619P	probably damaging	Het
Fsd1l	A	G	4: 53,647,754 (GRCm39)	I66V	probably benign	Het
Fv1	A	G	4: 147,954,712 (GRCm39)	D426G	possibly damaging	Het
Gm3371	A	T	14: 44,641,235 (GRCm39)		probably benign	Het
Hnf1a	A	T	5: 115,098,177 (GRCm39)	S142T	probably damaging	Het
Itgb3	A	G	11: 104,534,765 (GRCm39)	I541V	probably benign	Het
Itgbl1	G	T	14: 124,081,338 (GRCm39)	C239F	probably damaging	Het
Krt26	C	T	11: 99,224,471 (GRCm39)	R349Q	probably benign	Het
Larp1b	G	T	3: 40,921,929 (GRCm39)	S116I	probably benign	Het
Lmtk3	A	G	7: 45,443,933 (GRCm39)		probably benign	Het
Mapk10	T	C	5: 103,137,513 (GRCm39)	I235V	probably damaging	Het
Mctp1	C	T	13: 76,879,887 (GRCm39)		probably benign	Het
Megf8	G	A	7: 25,053,285 (GRCm39)	D1819N	probably damaging	Het
Muc6	T	C	7: 141,217,717 (GRCm39)	T2254A	possibly damaging	Het
Nbr1	T	A	11: 101,460,417 (GRCm39)	S444T	probably damaging	Het
Ncor2	A	T	5: 125,101,301 (GRCm39)	D1956E	probably damaging	Het
Ndufaf5	T	C	2: 140,030,663 (GRCm39)	V183A	probably benign	Het
Nfasc	G	A	1: 132,498,219 (GRCm39)	T1155M	probably damaging	Het
Nol12	A	G	15: 78,821,374 (GRCm39)	E78G	probably damaging	Het
Npy5r	T	A	8: 67,133,998 (GRCm39)	H265L	probably benign	Het
Or10j2	T	A	1: 173,098,417 (GRCm39)	L225H	probably damaging	Het
Or8k16	G	A	2: 85,520,472 (GRCm39)	G233D	possibly damaging	Het
Pop1	A	G	15: 34,529,217 (GRCm39)	E749G	probably benign	Het
Ppil3	T	C	1: 58,477,547 (GRCm39)	I66V	probably damaging	Het
Prl4a1	C	A	13: 28,202,554 (GRCm39)	T43K	possibly damaging	Het
Prop1	A	G	11: 50,844,113 (GRCm39)		probably benign	Het
Qrsl1	A	T	10: 43,761,010 (GRCm39)	I218N	probably damaging	Het
Rbm22	T	A	18: 60,697,484 (GRCm39)	M63K	possibly damaging	Het
Rictor	T	C	15: 6,815,895 (GRCm39)	S1056P	probably benign	Het
Rps6kb2	T	C	19: 4,207,587 (GRCm39)	T388A	probably damaging	Het
Slc7a5	A	G	8: 122,613,129 (GRCm39)		probably benign	Het
Sp100	A	T	1: 85,635,722 (GRCm39)	D509V	probably damaging	Het
Spata18	G	T	5: 73,829,861 (GRCm39)		probably null	Het
Sspo	C	A	6: 48,436,502 (GRCm39)	T1254K	possibly damaging	Het
Stk19	A	G	17: 35,051,134 (GRCm39)		probably benign	Het
Taar8b	T	A	10: 23,967,262 (GRCm39)	I311F	probably damaging	Het
Themis2	C	A	4: 132,510,658 (GRCm39)		probably null	Het
Tll2	T	C	19: 41,074,702 (GRCm39)	Y937C	possibly damaging	Het
Trim34a	T	A	7: 103,896,939 (GRCm39)	M1K	probably null	Het
Vps13d	G	A	4: 144,875,428 (GRCm39)	S1693F	probably benign	Het
Vps16	T	A	2: 130,282,852 (GRCm39)	I467N	probably damaging	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het

Other mutations in Usp50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01017:Usp50	APN	2	126,551,334 (GRCm39)	missense	probably damaging	0.98
IGL01565:Usp50	APN	2	126,619,888 (GRCm39)	nonsense	probably null
IGL01976:Usp50	APN	2	126,551,386 (GRCm39)	missense	probably benign	0.10
IGL02272:Usp50	APN	2	126,611,864 (GRCm39)	missense	probably damaging	0.98
IGL02892:Usp50	APN	2	126,611,822 (GRCm39)	missense	probably damaging	1.00
PIT4453001:Usp50	UTSW	2	126,625,236 (GRCm39)	start gained	probably benign
R0034:Usp50	UTSW	2	126,619,895 (GRCm39)	missense	possibly damaging	0.89
R0382:Usp50	UTSW	2	126,619,848 (GRCm39)	missense	probably damaging	1.00
R0433:Usp50	UTSW	2	126,603,464 (GRCm39)	missense	probably damaging	0.98
R1146:Usp50	UTSW	2	126,551,392 (GRCm39)	missense	probably benign	0.02
R1457:Usp50	UTSW	2	126,603,554 (GRCm39)	missense	probably benign	0.41
R1475:Usp50	UTSW	2	126,611,787 (GRCm39)	splice site	probably null
R1758:Usp50	UTSW	2	126,617,782 (GRCm39)	missense	probably damaging	1.00
R1889:Usp50	UTSW	2	126,619,818 (GRCm39)	critical splice donor site	probably null
R1940:Usp50	UTSW	2	126,619,943 (GRCm39)	missense	probably benign	0.03
R1959:Usp50	UTSW	2	126,619,881 (GRCm39)	missense	possibly damaging	0.91
R2698:Usp50	UTSW	2	126,619,949 (GRCm39)	missense	probably damaging	0.97
R4648:Usp50	UTSW	2	126,619,953 (GRCm39)	missense	probably damaging	0.98
R4809:Usp50	UTSW	2	126,619,773 (GRCm39)	intron	probably benign
R6247:Usp50	UTSW	2	126,617,713 (GRCm39)	missense	probably benign	0.33
R7030:Usp50	UTSW	2	126,622,395 (GRCm39)	missense	possibly damaging	0.78
R7186:Usp50	UTSW	2	126,625,218 (GRCm39)	start gained	probably benign
R7522:Usp50	UTSW	2	126,625,146 (GRCm39)	missense	probably damaging	1.00
R8110:Usp50	UTSW	2	126,622,250 (GRCm39)	splice site	probably null
R8856:Usp50	UTSW	2	126,622,477 (GRCm39)	missense	probably damaging	0.99
R9449:Usp50	UTSW	2	126,619,817 (GRCm39)	critical splice donor site	probably null
X0064:Usp50	UTSW	2	126,603,566 (GRCm39)	nonsense	probably null

Posted On

2015-04-16