Mutagenetix > Incidental Mutation

Incidental Mutation 'R1758:Usp50'

195053

Institutional Source

Beutler Lab

Gene Symbol

Usp50

Ensembl Gene

ENSMUSG00000027364

Gene Name

ubiquitin specific peptidase 50

Synonyms

1700086G18Rik, 4930511O11Rik

MMRRC Submission

039790-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1758 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126602970-126625380 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 126617782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 221 (C221F)

Ref Sequence

ENSEMBL: ENSMUSP00000028842 (fasta)

Gene Model

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

AlphaFold

Q6P8X6

Predicted Effect

probably damaging
Transcript: ENSMUST00000028842
AA Change: C221F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028842
Gene: ENSMUSG00000027364
AA Change: C221F

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 damaging
Transcript: ENSMUST00000130356
AA Change: C160F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116873
Gene: ENSMUSG00000027364
AA Change: C160F

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: C166F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000121578
Gene: ENSMUSG00000027364
AA Change: C166F

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

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	T	C	8: 13,612,237 (GRCm39)	R38G	possibly damaging	Het
4930590J08Rik	T	C	6: 91,892,203 (GRCm39)	V155A	possibly damaging	Het
Adgb	A	G	10: 10,302,349 (GRCm39)	S406P	probably damaging	Het
Adgrb2	C	A	4: 129,905,668 (GRCm39)	T893N	probably damaging	Het
Adgrf5	T	C	17: 43,735,484 (GRCm39)		probably null	Het
Alms1	T	A	6: 85,605,487 (GRCm39)	I2379N	probably damaging	Het
Arap3	C	T	18: 38,122,965 (GRCm39)	V512I	probably benign	Het
Atf4	C	T	15: 80,141,414 (GRCm39)	T268I	probably benign	Het
Cblif	G	A	19: 11,735,179 (GRCm39)	M266I	probably damaging	Het
Ccdc154	T	C	17: 25,382,156 (GRCm39)	L25P	probably damaging	Het
Ccdc9	G	A	7: 16,010,161 (GRCm39)	S381F	probably damaging	Het
Cdk17	C	T	10: 93,044,112 (GRCm39)	T17M	probably damaging	Het
Cep128	T	C	12: 91,314,352 (GRCm39)	N142S	probably benign	Het
Cep78	A	G	19: 15,936,900 (GRCm39)	I602T	probably damaging	Het
Clasp1	C	T	1: 118,475,755 (GRCm39)	T935I	probably damaging	Het
Cnr1	T	C	4: 33,945,000 (GRCm39)	S463P	probably damaging	Het
Cntnap1	T	A	11: 101,075,449 (GRCm39)	W876R	probably damaging	Het
Cntnap5c	A	G	17: 58,349,545 (GRCm39)	D286G	probably damaging	Het
Copa	C	T	1: 171,931,711 (GRCm39)	R321C	probably damaging	Het
Cspg4b	A	G	13: 113,505,266 (GRCm39)	T2132A	possibly damaging	Het
Ctla2a	T	G	13: 61,083,256 (GRCm39)	E98A	probably damaging	Het
Cux1	A	T	5: 136,421,176 (GRCm39)	D183E	probably damaging	Het
Cxcl15	A	C	5: 90,949,323 (GRCm39)	T163P	unknown	Het
Ddias	T	C	7: 92,508,571 (GRCm39)	N448S	probably benign	Het
Dhx8	T	C	11: 101,657,564 (GRCm39)	F1152S	probably damaging	Het
Dnah12	C	A	14: 26,488,071 (GRCm39)	Q992K	probably benign	Het
Eno3	G	T	11: 70,552,251 (GRCm39)	W301L	possibly damaging	Het
Faap100	A	T	11: 120,268,059 (GRCm39)	V238E	probably damaging	Het
Fgf4	A	G	7: 144,416,049 (GRCm39)	S137G	probably benign	Het
Fhod3	A	C	18: 25,253,367 (GRCm39)	D1439A	possibly damaging	Het
Frem2	A	G	3: 53,560,778 (GRCm39)	L1243P	probably damaging	Het
Gkn3	T	G	6: 87,365,817 (GRCm39)	M1L	probably benign	Het
Gm10250	T	C	15: 5,150,509 (GRCm39)		probably benign	Het
Gm12185	T	C	11: 48,798,859 (GRCm39)	T545A	possibly damaging	Het
Gm14226	T	A	2: 154,867,378 (GRCm39)	L445H	probably damaging	Het
Gm3404	A	T	5: 146,463,036 (GRCm39)	M73L	probably benign	Het
Gm973	G	T	1: 59,673,169 (GRCm39)	R976S	unknown	Het
Gpr146	A	T	5: 139,379,137 (GRCm39)	H313L	probably benign	Het
Gys2	T	A	6: 142,418,432 (GRCm39)	E32D	probably damaging	Het
Igsf10	G	A	3: 59,236,617 (GRCm39)	T1188I	probably benign	Het
Igsf9b	A	T	9: 27,245,548 (GRCm39)	T1172S	possibly damaging	Het
Itga8	T	A	2: 12,270,144 (GRCm39)	N114I	possibly damaging	Het
Itsn2	T	A	12: 4,708,160 (GRCm39)	V795E	possibly damaging	Het
Kdm1b	T	A	13: 47,214,244 (GRCm39)	S197T	probably benign	Het
Kif5c	G	A	2: 49,613,145 (GRCm39)	R161Q	probably benign	Het
Krt33b	T	C	11: 99,916,361 (GRCm39)	Y232C	probably damaging	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Lrp1	A	T	10: 127,424,453 (GRCm39)	N744K	possibly damaging	Het
Mcm10	C	A	2: 5,008,861 (GRCm39)	L369F	probably damaging	Het
Muc5ac	T	A	7: 141,355,268 (GRCm39)	I1018N	possibly damaging	Het
Myom2	T	C	8: 15,115,795 (GRCm39)	L70P	probably benign	Het
Myt1l	T	A	12: 29,877,241 (GRCm39)	N297K	unknown	Het
Ncr1	C	T	7: 4,343,807 (GRCm39)	T98I	probably benign	Het
Nek3	T	C	8: 22,650,278 (GRCm39)	E78G	probably damaging	Het
Nfatc3	T	A	8: 106,825,768 (GRCm39)	N606K	probably damaging	Het
Nup107	T	G	10: 117,597,248 (GRCm39)	D669A	probably damaging	Het
Or10ag52	A	T	2: 87,043,758 (GRCm39)	Q174L	probably benign	Het
Or10c1	A	T	17: 37,522,204 (GRCm39)	I180N	possibly damaging	Het
Or4c3	T	C	2: 89,851,673 (GRCm39)	T246A	probably benign	Het
Or8b55	A	T	9: 38,726,871 (GRCm39)	H24L	probably benign	Het
Pcnx1	T	C	12: 82,030,258 (GRCm39)	V1711A	probably benign	Het
Pik3c3	A	G	18: 30,410,063 (GRCm39)	D99G	probably damaging	Het
Pinx1	C	A	14: 64,157,024 (GRCm39)	T317K	probably benign	Het
Ppargc1b	G	T	18: 61,431,857 (GRCm39)		probably null	Het
Pradc1	T	A	6: 85,424,203 (GRCm39)	I119F	possibly damaging	Het
Psat1	G	T	19: 15,892,243 (GRCm39)	T242K	probably damaging	Het
Psma6	G	A	12: 55,454,317 (GRCm39)	C28Y	probably damaging	Het
Pyurf	A	T	6: 57,668,817 (GRCm39)	C58*	probably null	Het
Rab3gap2	C	A	1: 185,016,081 (GRCm39)	A1331E	probably benign	Het
Rnase4	T	C	14: 51,342,722 (GRCm39)	*149Q	probably null	Het
Ruvbl2	T	C	7: 45,074,586 (GRCm39)	K184R	probably benign	Het
Scn7a	T	G	2: 66,510,527 (GRCm39)	M1292L	probably benign	Het
Scn7a	A	T	2: 66,531,231 (GRCm39)	Y549N	probably damaging	Het
Selp	A	G	1: 163,959,854 (GRCm39)	D370G	possibly damaging	Het
Slc22a15	G	A	3: 101,767,769 (GRCm39)	Q386*	probably null	Het
Slc22a29	A	G	19: 8,195,126 (GRCm39)		probably null	Het
Slc26a7	A	C	4: 14,548,491 (GRCm39)	I266S	possibly damaging	Het
Smpd4	T	C	16: 17,443,872 (GRCm39)	S112P	probably damaging	Het
Smpd4	T	A	16: 17,458,744 (GRCm39)	L165Q	probably damaging	Het
Snx33	A	G	9: 56,833,982 (GRCm39)	I29T	probably benign	Het
Spen	G	A	4: 141,203,686 (GRCm39)	P1647L	unknown	Het
Strip2	T	C	6: 29,941,940 (GRCm39)		probably null	Het
Swsap1	C	T	9: 21,867,280 (GRCm39)	R75*	probably null	Het
Tesl1	A	G	X: 23,772,990 (GRCm39)	I164V	probably benign	Het
Tmem210	C	T	2: 25,178,435 (GRCm39)	T32I	probably damaging	Het
Tnn	C	T	1: 159,975,154 (GRCm39)	R91H	possibly damaging	Het
Tnni1	G	A	1: 135,736,420 (GRCm39)	R94H	probably damaging	Het
Tnrc6c	T	A	11: 117,651,556 (GRCm39)	V1693D	probably benign	Het
Trip4	G	A	9: 65,782,259 (GRCm39)	Q158*	probably null	Het
Ttc39b	T	C	4: 83,155,586 (GRCm39)	E474G	probably damaging	Het
Vmn1r171	T	C	7: 23,331,781 (GRCm39)	I2T	probably benign	Het
Wdr62	T	A	7: 29,967,328 (GRCm39)	I309F	probably damaging	Het
Xdh	A	T	17: 74,217,204 (GRCm39)	V688E	probably damaging	Het
Zfyve26	A	G	12: 79,285,718 (GRCm39)	L2353P	probably damaging	Het
Zgpat	C	A	2: 181,020,633 (GRCm39)	R269S	probably damaging	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
IGL02192:Usp50	APN	2	126,619,958 (GRCm39)	missense	possibly damaging	0.94
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
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

Predicted Primers

PCR Primer
(F):5'- GCACCCACTTTGCTGCTGATTTTAG -3'
(R):5'- CAGATGCACATTTGCACAGCTCC -3'

Sequencing Primer
(F):5'- tctcaataaaactgttgaaaaCCATC -3'
(R):5'- TTTGCACAGCTCCTCCAAAC -3'

Posted On

2014-05-23