Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01373:Usp38'

84092

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Usp38

Ensembl Gene

ENSMUSG00000038250

Gene Name

ubiquitin specific peptidase 38

Synonyms

4833420O05Rik, 4631402N15Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01373

Quality Score

Status

Chromosome

Chromosomal Location

80980733-81014928 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 80990018 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 496 (A496S)

Ref Sequence

ENSEMBL: ENSMUSP00000039943 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042724]

AlphaFold

Q8BW70

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042724
AA Change: A496S

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000039943
Gene: ENSMUSG00000038250
AA Change: A496S

Domain	Start	End	E-Value	Type
SCOP:d1gw5a_	1	365	5e-3	SMART
Pfam:UCH	444	946	1.8e-47	PFAM
Pfam:UCH_1	445	921	2.2e-23	PFAM
low complexity region	995	1006	N/A	INTRINSIC
low complexity region	1019	1033	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	C	T	7: 119,711,419	R510*	probably null	Het
Adamts12	A	T	15: 11,310,730	E1024D	probably benign	Het
Aff2	T	A	X: 69,867,729	D1239E	possibly damaging	Het
Agps	T	C	2: 75,852,784	V151A	probably benign	Het
Cables1	A	T	18: 11,888,764	R276S	probably damaging	Het
Cep72	A	G	13: 74,059,459	S64P	probably damaging	Het
Cmah	A	T	13: 24,430,549	D159V	probably damaging	Het
Cox6a1	C	A	5: 115,345,839		probably benign	Het
Cpxm1	T	C	2: 130,394,135	E369G	probably damaging	Het
Dnah6	A	G	6: 73,074,748	L3021P	probably benign	Het
Esyt1	T	C	10: 128,518,941	E530G	possibly damaging	Het
Fancd2	A	G	6: 113,553,752	I449V	probably benign	Het
Fbxw24	C	T	9: 109,623,633	G98D	probably damaging	Het
Folh1	T	C	7: 86,746,142	I361V	probably benign	Het
Gm12666	A	G	4: 92,191,625	V42A	probably damaging	Het
Gpr19	T	A	6: 134,870,321	H41L	possibly damaging	Het
Kcnq4	A	G	4: 120,717,032	V143A	probably damaging	Het
Lmcd1	A	G	6: 112,310,625	I91V	probably benign	Het
Lpin3	G	T	2: 160,903,729	D651Y	probably damaging	Het
Ms4a6b	A	T	19: 11,529,507	H220L	possibly damaging	Het
Mxd4	G	A	5: 34,184,346		probably benign	Het
Nxnl2	T	C	13: 51,171,452	F44L	probably damaging	Het
Olfr698	T	C	7: 106,752,446		probably benign	Het
Olfr744	T	A	14: 50,618,612	I130N	probably damaging	Het
Pcdhb20	A	T	18: 37,506,568	R716W	probably benign	Het
Pcx	T	A	19: 4,620,235		probably null	Het
Plekhf1	T	C	7: 38,221,797	T116A	probably benign	Het
Psmb2	G	T	4: 126,687,092	R93L	probably damaging	Het
Pstpip2	T	A	18: 77,835,216	L42*	probably null	Het
Ptpn22	A	T	3: 103,886,204	D557V	probably damaging	Het
Rbbp5	G	A	1: 132,492,601	V191I	probably benign	Het
Rgs1	T	A	1: 144,245,378	D185V	probably damaging	Het
Selenoh	A	G	2: 84,670,594		probably benign	Het
Slc6a5	C	T	7: 49,917,733	P312S	probably benign	Het
Snapc1	T	A	12: 73,964,680	M40K	probably benign	Het
Sptbn2	T	G	19: 4,745,972	Y1726*	probably null	Het
Syne2	T	C	12: 75,987,107	I3710T	probably damaging	Het
Tdrd9	G	A	12: 112,040,434	V911M	probably damaging	Het
Tex9	A	T	9: 72,480,754	D134E	possibly damaging	Het
Ttc41	G	T	10: 86,775,957	C1063F	possibly damaging	Het
Vmn2r13	T	A	5: 109,156,702	Y621F	probably damaging	Het
Vmn2r67	T	A	7: 85,136,626	M724L	probably benign	Het

Other mutations in Usp38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01151:Usp38	APN	8	81013840	missense	probably damaging	0.99
IGL02089:Usp38	APN	8	80985714	missense	possibly damaging	0.48
IGL02528:Usp38	APN	8	80993235	missense	probably damaging	1.00
IGL02538:Usp38	APN	8	80985558	missense	probably damaging	1.00
IGL02615:Usp38	APN	8	80985151	missense	probably benign	0.00
IGL03340:Usp38	APN	8	81012276	missense	probably damaging	1.00
P0033:Usp38	UTSW	8	80981896	missense	probably benign	0.12
R0313:Usp38	UTSW	8	80984442	nonsense	probably null
R0331:Usp38	UTSW	8	80995840	missense	probably benign	0.00
R0497:Usp38	UTSW	8	80984424	splice site	probably benign
R0594:Usp38	UTSW	8	81005366	missense	probably damaging	0.97
R0632:Usp38	UTSW	8	81014150	missense	probably benign	0.03
R1355:Usp38	UTSW	8	80985033	missense	possibly damaging	0.61
R1500:Usp38	UTSW	8	80995770	missense	probably damaging	1.00
R1566:Usp38	UTSW	8	80984803	missense	probably benign	0.00
R1880:Usp38	UTSW	8	81001066	missense	probably damaging	1.00
R4161:Usp38	UTSW	8	80993338	missense	probably damaging	1.00
R4176:Usp38	UTSW	8	80993299	missense	probably benign	0.33
R4882:Usp38	UTSW	8	80981977	nonsense	probably null
R5344:Usp38	UTSW	8	80985763	missense	possibly damaging	0.76
R5481:Usp38	UTSW	8	80993323	missense	possibly damaging	0.89
R5564:Usp38	UTSW	8	80985088	missense	probably damaging	0.96
R5897:Usp38	UTSW	8	81005453	missense	probably benign	0.03
R6111:Usp38	UTSW	8	81013922	missense	probably damaging	1.00
R6746:Usp38	UTSW	8	81014291	missense	possibly damaging	0.80
R6912:Usp38	UTSW	8	80993329	missense	probably damaging	1.00
R7051:Usp38	UTSW	8	81001121	missense	possibly damaging	0.50
R7483:Usp38	UTSW	8	81014561	start gained	probably benign
R7525:Usp38	UTSW	8	81014246	missense	probably damaging	1.00
R7565:Usp38	UTSW	8	80981972	missense	probably damaging	1.00
R7915:Usp38	UTSW	8	81001083	missense	probably damaging	1.00
R7934:Usp38	UTSW	8	80984448	missense	probably damaging	1.00
R7988:Usp38	UTSW	8	81014316	missense	probably benign	0.01
R8062:Usp38	UTSW	8	80984589	missense	probably damaging	1.00
R8340:Usp38	UTSW	8	80985402	missense	probably benign
R8514:Usp38	UTSW	8	80985717	missense	probably benign	0.01
R8919:Usp38	UTSW	8	80981850	missense	probably damaging	1.00
R9119:Usp38	UTSW	8	80984599	missense	probably damaging	1.00
R9664:Usp38	UTSW	8	81014535	start gained	probably benign
RF016:Usp38	UTSW	8	81013893	missense	probably benign	0.01

Posted On

2013-11-11