Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03406:Usp48'

421611

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Usp48

Ensembl Gene

ENSMUSG00000043411

Gene Name

ubiquitin specific peptidase 48

Synonyms

Usp31, D330022K21Rik, 2810449C13Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

IGL03406

Quality Score

Status

Chromosome

Chromosomal Location

137593755-137658537 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 137639295 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 921 (D921E)

Ref Sequence

ENSEMBL: ENSMUSP00000055016 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055131] [ENSMUST00000105840] [ENSMUST00000141628]

AlphaFold

Q3V0C5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055131
AA Change: D921E

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000055016
Gene: ENSMUSG00000043411
AA Change: D921E

Domain	Start	End	E-Value	Type
Pfam:UCH	88	417	6.9e-44	PFAM
Pfam:UCH_1	89	374	1e-22	PFAM
Blast:DUSP	479	555	5e-39	BLAST
coiled coil region	622	643	N/A	INTRINSIC
UBQ	954	1022	4.78e-1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105840
AA Change: D905E

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101466
Gene: ENSMUSG00000043411
AA Change: D905E

Domain	Start	End	E-Value	Type
Pfam:UCH	88	418	6.4e-49	PFAM
Pfam:UCH_1	89	374	1.8e-27	PFAM
Blast:DUSP	480	556	4e-39	BLAST
coiled coil region	624	645	N/A	INTRINSIC
Blast:DUSP	743	824	2e-7	BLAST
UBQ	938	1006	4.78e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131755

Predicted Effect

probably benign
Transcript: ENSMUST00000141426

SMART Domains

Protein: ENSMUSP00000118084
Gene: ENSMUSG00000043411

Domain	Start	End	E-Value	Type
UBQ	63	131	4.78e-1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000141628
AA Change: D152E

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000119691
Gene: ENSMUSG00000043411
AA Change: D152E

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
UBQ	185	253	4.78e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152985

Meta Mutation Damage Score

0.0923

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing domains that associate it with the peptidase family C19, also known as family 2 of ubiquitin carboxyl-terminal hydrolases. Family members function as deubiquitinating enzymes, recognizing and hydrolyzing the peptide bond at the C-terminal glycine of ubiquitin. Enzymes in peptidase family C19 are involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012P22Rik	A	G	4: 144,423,844 (GRCm38)	Y56H	probably damaging	Het
A530016L24Rik	T	A	12: 112,496,883 (GRCm38)		probably null	Het
Adcy7	C	T	8: 88,318,319 (GRCm38)	R228*	probably null	Het
Cdcp1	T	C	9: 123,185,313 (GRCm38)	H132R	probably benign	Het
Cyp4a32	T	C	4: 115,602,303 (GRCm38)	I78T	probably benign	Het
Fap	A	T	2: 62,542,122 (GRCm38)		probably benign	Het
Gad1-ps	C	T	10: 99,444,779 (GRCm38)		noncoding transcript	Het
Gli3	T	C	13: 15,648,581 (GRCm38)	I296T	probably damaging	Het
H2-Q2	T	C	17: 35,342,825 (GRCm38)	V97A	probably benign	Het
Hr	T	A	14: 70,563,420 (GRCm38)		probably null	Het
Itgax	C	T	7: 128,149,198 (GRCm38)	T1133I	possibly damaging	Het
L3mbtl2	G	A	15: 81,681,993 (GRCm38)	R339H	probably damaging	Het
Mast4	T	C	13: 102,737,107 (GRCm38)	K1726E	possibly damaging	Het
Nlrc5	T	C	8: 94,476,855 (GRCm38)	Y528H	probably benign	Het
Nmnat3	G	A	9: 98,399,477 (GRCm38)	G44D	probably damaging	Het
Nol8	A	T	13: 49,661,568 (GRCm38)	D366V	probably damaging	Het
Olfr539	C	A	7: 140,667,511 (GRCm38)	L68M	probably damaging	Het
Pde4d	A	T	13: 109,954,591 (GRCm38)		probably benign	Het
Ptpn22	C	A	3: 103,912,016 (GRCm38)	N795K	probably benign	Het
Rabgap1l	A	T	1: 160,722,169 (GRCm38)	V289D	probably damaging	Het
Slc50a1	T	C	3: 89,270,101 (GRCm38)	D40G	possibly damaging	Het
Slco6b1	T	C	1: 96,947,585 (GRCm38)		noncoding transcript	Het
Smarcad1	T	A	6: 65,092,526 (GRCm38)	F530Y	probably damaging	Het
Spag6	A	G	2: 18,742,873 (GRCm38)		probably benign	Het
Supt16	A	T	14: 52,178,141 (GRCm38)	I379N	possibly damaging	Het
Tmem154	A	G	3: 84,684,260 (GRCm38)	N39S	probably benign	Het
Ubash3b	T	A	9: 41,037,479 (GRCm38)	Y180F	probably damaging	Het
Zdhhc20	T	C	14: 57,839,099 (GRCm38)	T366A	probably benign	Het
Zfp456	A	T	13: 67,366,331 (GRCm38)	C419S	probably damaging	Het
Zfp69	T	C	4: 120,931,084 (GRCm38)	T345A	probably benign	Het

Other mutations in Usp48

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01691:Usp48	APN	4	137,623,272 (GRCm38)	critical splice acceptor site	probably null
IGL01864:Usp48	APN	4	137,639,227 (GRCm38)	missense	possibly damaging	0.87
IGL02386:Usp48	APN	4	137,604,523 (GRCm38)	missense	possibly damaging	0.93
IGL03112:Usp48	APN	4	137,608,064 (GRCm38)	missense	probably damaging	1.00
IGL03114:Usp48	APN	4	137,656,125 (GRCm38)	missense	probably damaging	1.00
balfour	UTSW	4	137,633,455 (GRCm38)	missense	probably benign	0.00
burlap	UTSW	4	137,625,276 (GRCm38)	missense	possibly damaging	0.77
fulfillment	UTSW	4	137,638,233 (GRCm38)	missense	probably damaging	1.00
hayao	UTSW	4	137,633,439 (GRCm38)	nonsense	probably null
Mei	UTSW	4	137,606,693 (GRCm38)	nonsense	probably null
miyazaki	UTSW	4	137,608,154 (GRCm38)	missense	probably damaging	1.00
promise	UTSW	4	137,634,921 (GRCm38)	missense	probably damaging	1.00
satsuki	UTSW	4	137,633,126 (GRCm38)	missense	possibly damaging	0.93
Totoro	UTSW	4	137,594,483 (GRCm38)	missense	probably damaging	0.99
IGL02796:Usp48	UTSW	4	137,610,718 (GRCm38)	missense	probably damaging	1.00
R0050:Usp48	UTSW	4	137,613,803 (GRCm38)	missense	probably damaging	1.00
R0333:Usp48	UTSW	4	137,594,483 (GRCm38)	missense	probably damaging	0.99
R0382:Usp48	UTSW	4	137,621,218 (GRCm38)	missense	probably benign	0.00
R0423:Usp48	UTSW	4	137,616,411 (GRCm38)	missense	probably benign
R0570:Usp48	UTSW	4	137,633,126 (GRCm38)	missense	possibly damaging	0.93
R0855:Usp48	UTSW	4	137,608,154 (GRCm38)	missense	probably damaging	1.00
R0943:Usp48	UTSW	4	137,644,470 (GRCm38)	missense	possibly damaging	0.92
R1367:Usp48	UTSW	4	137,639,295 (GRCm38)	missense	possibly damaging	0.90
R1367:Usp48	UTSW	4	137,644,463 (GRCm38)	missense	probably damaging	1.00
R1689:Usp48	UTSW	4	137,656,107 (GRCm38)	splice site	probably null
R1725:Usp48	UTSW	4	137,633,422 (GRCm38)	nonsense	probably null
R2520:Usp48	UTSW	4	137,625,251 (GRCm38)	missense	probably benign	0.05
R2965:Usp48	UTSW	4	137,613,762 (GRCm38)	missense	probably damaging	1.00
R2966:Usp48	UTSW	4	137,613,762 (GRCm38)	missense	probably damaging	1.00
R3026:Usp48	UTSW	4	137,594,444 (GRCm38)	missense	probably benign	0.06
R3963:Usp48	UTSW	4	137,633,439 (GRCm38)	nonsense	probably null
R4087:Usp48	UTSW	4	137,623,340 (GRCm38)	missense	possibly damaging	0.95
R4633:Usp48	UTSW	4	137,634,900 (GRCm38)	missense	probably damaging	0.96
R4677:Usp48	UTSW	4	137,616,381 (GRCm38)	missense	probably benign	0.16
R4735:Usp48	UTSW	4	137,633,369 (GRCm38)	nonsense	probably null
R4932:Usp48	UTSW	4	137,615,834 (GRCm38)	splice site	probably null
R4932:Usp48	UTSW	4	137,615,833 (GRCm38)	missense	probably benign	0.00
R4935:Usp48	UTSW	4	137,650,358 (GRCm38)	missense	probably benign	0.42
R4952:Usp48	UTSW	4	137,606,693 (GRCm38)	nonsense	probably null
R5034:Usp48	UTSW	4	137,606,757 (GRCm38)	nonsense	probably null
R5153:Usp48	UTSW	4	137,616,362 (GRCm38)	missense	possibly damaging	0.68
R5443:Usp48	UTSW	4	137,621,221 (GRCm38)	missense	possibly damaging	0.78
R5591:Usp48	UTSW	4	137,652,652 (GRCm38)	intron	probably benign
R5825:Usp48	UTSW	4	137,623,378 (GRCm38)	missense	probably benign
R5889:Usp48	UTSW	4	137,616,412 (GRCm38)	missense	probably benign
R5955:Usp48	UTSW	4	137,615,818 (GRCm38)	missense	probably benign
R6089:Usp48	UTSW	4	137,605,818 (GRCm38)	missense	probably damaging	1.00
R6443:Usp48	UTSW	4	137,613,763 (GRCm38)	missense	probably damaging	1.00
R6473:Usp48	UTSW	4	137,609,108 (GRCm38)	critical splice donor site	probably null
R6482:Usp48	UTSW	4	137,634,921 (GRCm38)	missense	probably damaging	1.00
R6859:Usp48	UTSW	4	137,625,276 (GRCm38)	missense	possibly damaging	0.77
R6916:Usp48	UTSW	4	137,638,233 (GRCm38)	missense	probably damaging	1.00
R6977:Usp48	UTSW	4	137,650,360 (GRCm38)	missense	probably damaging	1.00
R7749:Usp48	UTSW	4	137,650,417 (GRCm38)	missense	probably damaging	1.00
R7759:Usp48	UTSW	4	137,594,452 (GRCm38)	missense	probably benign	0.25
R7767:Usp48	UTSW	4	137,604,645 (GRCm38)	critical splice donor site	probably null
R7850:Usp48	UTSW	4	137,605,749 (GRCm38)	splice site	probably null
R7881:Usp48	UTSW	4	137,633,455 (GRCm38)	missense	probably benign	0.00
R7897:Usp48	UTSW	4	137,644,428 (GRCm38)	missense	probably damaging	0.96
R8186:Usp48	UTSW	4	137,621,196 (GRCm38)	missense	possibly damaging	0.83
R8198:Usp48	UTSW	4	137,621,159 (GRCm38)	unclassified	probably benign
R8353:Usp48	UTSW	4	137,623,382 (GRCm38)	missense	probably benign	0.00
R8466:Usp48	UTSW	4	137,623,319 (GRCm38)	missense	probably null	1.00
R8506:Usp48	UTSW	4	137,610,718 (GRCm38)	missense	probably damaging	1.00
R8821:Usp48	UTSW	4	137,613,769 (GRCm38)	missense	probably damaging	1.00
R8831:Usp48	UTSW	4	137,613,769 (GRCm38)	missense	probably damaging	1.00
R8911:Usp48	UTSW	4	137,613,685 (GRCm38)	missense	probably benign	0.00
R9043:Usp48	UTSW	4	137,613,685 (GRCm38)	missense	probably benign	0.00
R9044:Usp48	UTSW	4	137,613,685 (GRCm38)	missense	probably benign	0.00
R9289:Usp48	UTSW	4	137,613,685 (GRCm38)	missense	probably benign	0.00
R9295:Usp48	UTSW	4	137,613,685 (GRCm38)	missense	probably benign	0.00
R9296:Usp48	UTSW	4	137,613,685 (GRCm38)	missense	probably benign	0.00
R9297:Usp48	UTSW	4	137,613,685 (GRCm38)	missense	probably benign	0.00
R9317:Usp48	UTSW	4	137,613,685 (GRCm38)	missense	probably benign	0.00
R9460:Usp48	UTSW	4	137,613,685 (GRCm38)	missense	probably benign	0.00
R9480:Usp48	UTSW	4	137,613,685 (GRCm38)	missense	probably benign	0.00
R9481:Usp48	UTSW	4	137,613,685 (GRCm38)	missense	probably benign	0.00
R9520:Usp48	UTSW	4	137,613,685 (GRCm38)	missense	probably benign	0.00
R9521:Usp48	UTSW	4	137,613,685 (GRCm38)	missense	probably benign	0.00
R9522:Usp48	UTSW	4	137,613,685 (GRCm38)	missense	probably benign	0.00
R9627:Usp48	UTSW	4	137,613,685 (GRCm38)	missense	probably benign	0.00
R9698:Usp48	UTSW	4	137,633,891 (GRCm38)	missense	possibly damaging	0.94
R9752:Usp48	UTSW	4	137,613,826 (GRCm38)	missense	probably damaging	1.00
R9784:Usp48	UTSW	4	137,594,501 (GRCm38)	missense	probably benign	0.06
RF002:Usp48	UTSW	4	137,605,795 (GRCm38)	missense	probably damaging	1.00
Z1176:Usp48	UTSW	4	137,604,637 (GRCm38)	frame shift	probably null

Posted On

2016-08-02