Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01017:Usp50'

53451

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 #

IGL01017

Quality Score

Status

Chromosome

Chromosomal Location

126602970-126625380 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 126551334 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 48 (M48I)

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 damaging
Transcript: ENSMUST00000099423
AA Change: M48I

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127386
Gene: ENSMUSG00000027364
AA Change: M48I

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ambn	G	A	5: 88,607,218 (GRCm39)	A29T	probably damaging	Het
Ankrd11	T	C	8: 123,621,467 (GRCm39)	K795R	probably damaging	Het
Atg3	T	C	16: 45,004,174 (GRCm39)		probably null	Het
Ccdc169	T	C	3: 55,078,739 (GRCm39)	V200A	possibly damaging	Het
Cdr2l	C	A	11: 115,283,564 (GRCm39)	Q141K	probably damaging	Het
Cts3	T	A	13: 61,715,988 (GRCm39)	I93F	probably damaging	Het
Eif2ak2	A	G	17: 79,171,287 (GRCm39)	L372S	probably damaging	Het
Elovl5	T	C	9: 77,888,853 (GRCm39)	I240T	possibly damaging	Het
Farp1	C	T	14: 121,510,186 (GRCm39)	A728V	possibly damaging	Het
Fbln1	A	G	15: 85,128,390 (GRCm39)	D529G	possibly damaging	Het
Flnb	G	T	14: 7,917,390 (GRCm38)		probably benign	Het
Gm14401	A	T	2: 176,778,625 (GRCm39)	H237L	probably damaging	Het
Hivep3	T	A	4: 119,956,443 (GRCm39)	H1586Q	probably damaging	Het
Igkv12-98	T	A	6: 68,548,093 (GRCm39)	L74*	probably null	Het
Iigp1c	T	A	18: 60,378,508 (GRCm39)	D14E	possibly damaging	Het
Ktn1	T	C	14: 47,946,335 (GRCm39)	S917P	probably benign	Het
Lama3	T	C	18: 12,574,200 (GRCm39)		probably null	Het
Lamb1	A	G	12: 31,351,063 (GRCm39)	D723G	possibly damaging	Het
Lrrc39	A	T	3: 116,364,500 (GRCm39)	R130S	probably benign	Het
Mcm3	A	C	1: 20,875,039 (GRCm39)		probably null	Het
Muc19	T	G	15: 91,764,901 (GRCm39)		noncoding transcript	Het
Necap2	A	G	4: 140,794,879 (GRCm39)	F266S	probably damaging	Het
Nfil3	C	T	13: 53,122,055 (GRCm39)	G283D	probably damaging	Het
Nlrp4e	A	T	7: 23,021,092 (GRCm39)	K526N	possibly damaging	Het
Or13a20	A	G	7: 140,232,389 (GRCm39)	T166A	probably benign	Het
Or4p7	T	A	2: 88,222,245 (GRCm39)	V218E	possibly damaging	Het
Pelp1	G	A	11: 70,287,720 (GRCm39)	R401W	probably damaging	Het
Phldb3	G	T	7: 24,328,295 (GRCm39)	C613F	probably damaging	Het
Ppp1ca	T	C	19: 4,243,110 (GRCm39)	Y93H	probably damaging	Het
Ppp1r3b	A	G	8: 35,851,476 (GRCm39)	E105G	probably benign	Het
Prb1a	G	T	6: 132,184,194 (GRCm39)	Q480K	unknown	Het
Ryr1	A	T	7: 28,781,968 (GRCm39)	I2007N	probably damaging	Het
Scgb1b27	A	G	7: 33,721,228 (GRCm39)	T39A	probably damaging	Het
Serpinb3b	T	C	1: 107,082,187 (GRCm39)	D359G	probably benign	Het
Sgo2b	G	T	8: 64,379,557 (GRCm39)	R1092S	probably benign	Het
Sh3pxd2b	C	A	11: 32,353,993 (GRCm39)	S187*	probably null	Het
Slc11a1	T	A	1: 74,418,955 (GRCm39)	L92H	probably damaging	Het
Smc3	T	C	19: 53,617,758 (GRCm39)	V585A	probably damaging	Het
Sp6	A	G	11: 96,913,429 (GRCm39)		probably benign	Het
Spata16	A	T	3: 26,894,871 (GRCm39)	I307F	possibly damaging	Het
Tfpi2	T	A	6: 3,965,359 (GRCm39)	H33L	probably benign	Het
Tnxb	T	A	17: 34,912,782 (GRCm39)	D1642E	probably damaging	Het
Ttc1	T	C	11: 43,621,320 (GRCm39)	N287S	probably damaging	Het
Ttc9	G	A	12: 81,678,536 (GRCm39)	V120I	possibly damaging	Het
Umps	A	G	16: 33,787,272 (GRCm39)	V27A	probably damaging	Het
Vmn1r76	A	T	7: 11,664,309 (GRCm39)	C267S	possibly damaging	Het
Wee1	A	T	7: 109,725,055 (GRCm39)	D275V	possibly damaging	Het
Zmym6	C	T	4: 126,982,152 (GRCm39)	P63L	probably benign	Het

Other mutations in Usp50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-06-28