Mutagenetix > Incidental Mutation

Incidental Mutation 'R3026:Usp48'

265817

Institutional Source

Beutler Lab

Gene Symbol

Usp48

Ensembl Gene

ENSMUSG00000043411

Gene Name

ubiquitin specific peptidase 48

Synonyms

Usp31, 2810449C13Rik, D330022K21Rik

MMRRC Submission

040542-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.953) question?

Stock #

R3026 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

137321079-137385842 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 137321755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 49 (E49G)

Ref Sequence

ENSEMBL: ENSMUSP00000123154 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055131] [ENSMUST00000105838] [ENSMUST00000105839] [ENSMUST00000105840] [ENSMUST00000153100]

AlphaFold

Q3V0C5

Predicted Effect

probably benign
Transcript: ENSMUST00000055131
AA Change: E21G

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000055016
Gene: ENSMUSG00000043411
AA Change: E21G

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

probably benign
Transcript: ENSMUST00000105838

SMART Domains

Protein: ENSMUSP00000101464
Gene: ENSMUSG00000043411

Domain	Start	End	E-Value	Type
Blast:DUSP	1	30	3e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000105839
AA Change: E21G

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000101465
Gene: ENSMUSG00000043411
AA Change: E21G

Domain	Start	End	E-Value	Type
Pfam:UCH	88	418	3.2e-47	PFAM
Pfam:UCH_1	89	374	1.1e-25	PFAM
Blast:DUSP	480	556	5e-40	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000105840
AA Change: E21G

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000101466
Gene: ENSMUSG00000043411
AA Change: E21G

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: ENSMUST00000153100
AA Change: E49G

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000123154
Gene: ENSMUSG00000043411
AA Change: E49G

Domain	Start	End	E-Value	Type
Blast:IG_like	74	129	7e-34	BLAST
PDB:4M5X\|B	111	158	1e-7	PDB

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
BC051665	T	A	13: 60,932,521 (GRCm39)	N55Y	probably damaging	Het
Cdh19	T	C	1: 110,882,418 (GRCm39)	T25A	probably benign	Het
Eef1akmt1	A	T	14: 57,787,891 (GRCm39)	S156T	probably damaging	Het
Fsip1	T	C	2: 118,080,384 (GRCm39)	H124R	probably benign	Het
Gba2	C	A	4: 43,578,308 (GRCm39)	A14S	possibly damaging	Het
Iqgap2	T	A	13: 95,809,564 (GRCm39)		probably null	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Mapk8ip2	C	T	15: 89,345,649 (GRCm39)	A803V	probably damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Nav3	A	G	10: 109,660,465 (GRCm39)	S702P	probably damaging	Het
Nudt14	T	C	12: 112,905,612 (GRCm39)	Q27R	probably null	Het
Or51h1	T	C	7: 102,308,336 (GRCm39)	F103L	possibly damaging	Het
Pdilt	T	A	7: 119,114,177 (GRCm39)	Q107L	probably benign	Het
Rasgrp3	T	C	17: 75,831,916 (GRCm39)	V579A	possibly damaging	Het
Rasl11a	G	A	5: 146,784,187 (GRCm39)	V211I	probably benign	Het
Rsf1	G	GACGGCGGCC	7: 97,229,116 (GRCm39)		probably benign	Het
Shoc1	A	G	4: 59,062,656 (GRCm39)	S867P	possibly damaging	Het
Spc24	AGAGGTAGTCACTGA	AGA	9: 21,667,511 (GRCm39)		probably null	Het
Synj1	A	T	16: 90,775,622 (GRCm39)	D385E	probably damaging	Het
Vmn1r202	C	T	13: 22,685,932 (GRCm39)	V162I	probably benign	Het

Other mutations in Usp48

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01691:Usp48	APN	4	137,350,583 (GRCm39)	critical splice acceptor site	probably null
IGL01864:Usp48	APN	4	137,366,538 (GRCm39)	missense	possibly damaging	0.87
IGL02386:Usp48	APN	4	137,331,834 (GRCm39)	missense	possibly damaging	0.93
IGL03112:Usp48	APN	4	137,335,375 (GRCm39)	missense	probably damaging	1.00
IGL03114:Usp48	APN	4	137,383,436 (GRCm39)	missense	probably damaging	1.00
IGL03406:Usp48	APN	4	137,366,606 (GRCm39)	missense	possibly damaging	0.90
balfour	UTSW	4	137,360,766 (GRCm39)	missense	probably benign	0.00
burlap	UTSW	4	137,352,587 (GRCm39)	missense	possibly damaging	0.77
fulfillment	UTSW	4	137,365,544 (GRCm39)	missense	probably damaging	1.00
hayao	UTSW	4	137,360,750 (GRCm39)	nonsense	probably null
Mei	UTSW	4	137,334,004 (GRCm39)	nonsense	probably null
miyazaki	UTSW	4	137,335,465 (GRCm39)	missense	probably damaging	1.00
promise	UTSW	4	137,362,232 (GRCm39)	missense	probably damaging	1.00
satsuki	UTSW	4	137,360,437 (GRCm39)	missense	possibly damaging	0.93
Totoro	UTSW	4	137,321,794 (GRCm39)	missense	probably damaging	0.99
IGL02796:Usp48	UTSW	4	137,338,029 (GRCm39)	missense	probably damaging	1.00
R0050:Usp48	UTSW	4	137,341,114 (GRCm39)	missense	probably damaging	1.00
R0333:Usp48	UTSW	4	137,321,794 (GRCm39)	missense	probably damaging	0.99
R0382:Usp48	UTSW	4	137,348,529 (GRCm39)	missense	probably benign	0.00
R0423:Usp48	UTSW	4	137,343,722 (GRCm39)	missense	probably benign
R0570:Usp48	UTSW	4	137,360,437 (GRCm39)	missense	possibly damaging	0.93
R0855:Usp48	UTSW	4	137,335,465 (GRCm39)	missense	probably damaging	1.00
R0943:Usp48	UTSW	4	137,371,781 (GRCm39)	missense	possibly damaging	0.92
R1367:Usp48	UTSW	4	137,371,774 (GRCm39)	missense	probably damaging	1.00
R1367:Usp48	UTSW	4	137,366,606 (GRCm39)	missense	possibly damaging	0.90
R1689:Usp48	UTSW	4	137,383,418 (GRCm39)	splice site	probably null
R1725:Usp48	UTSW	4	137,360,733 (GRCm39)	nonsense	probably null
R2520:Usp48	UTSW	4	137,352,562 (GRCm39)	missense	probably benign	0.05
R2965:Usp48	UTSW	4	137,341,073 (GRCm39)	missense	probably damaging	1.00
R2966:Usp48	UTSW	4	137,341,073 (GRCm39)	missense	probably damaging	1.00
R3963:Usp48	UTSW	4	137,360,750 (GRCm39)	nonsense	probably null
R4087:Usp48	UTSW	4	137,350,651 (GRCm39)	missense	possibly damaging	0.95
R4633:Usp48	UTSW	4	137,362,211 (GRCm39)	missense	probably damaging	0.96
R4677:Usp48	UTSW	4	137,343,692 (GRCm39)	missense	probably benign	0.16
R4735:Usp48	UTSW	4	137,360,680 (GRCm39)	nonsense	probably null
R4932:Usp48	UTSW	4	137,343,145 (GRCm39)	splice site	probably null
R4932:Usp48	UTSW	4	137,343,144 (GRCm39)	missense	probably benign	0.00
R4935:Usp48	UTSW	4	137,377,669 (GRCm39)	missense	probably benign	0.42
R4952:Usp48	UTSW	4	137,334,004 (GRCm39)	nonsense	probably null
R5034:Usp48	UTSW	4	137,334,068 (GRCm39)	nonsense	probably null
R5153:Usp48	UTSW	4	137,343,673 (GRCm39)	missense	possibly damaging	0.68
R5443:Usp48	UTSW	4	137,348,532 (GRCm39)	missense	possibly damaging	0.78
R5591:Usp48	UTSW	4	137,379,963 (GRCm39)	intron	probably benign
R5825:Usp48	UTSW	4	137,350,689 (GRCm39)	missense	probably benign
R5889:Usp48	UTSW	4	137,343,723 (GRCm39)	missense	probably benign
R5955:Usp48	UTSW	4	137,343,129 (GRCm39)	missense	probably benign
R6089:Usp48	UTSW	4	137,333,129 (GRCm39)	missense	probably damaging	1.00
R6443:Usp48	UTSW	4	137,341,074 (GRCm39)	missense	probably damaging	1.00
R6473:Usp48	UTSW	4	137,336,419 (GRCm39)	critical splice donor site	probably null
R6482:Usp48	UTSW	4	137,362,232 (GRCm39)	missense	probably damaging	1.00
R6859:Usp48	UTSW	4	137,352,587 (GRCm39)	missense	possibly damaging	0.77
R6916:Usp48	UTSW	4	137,365,544 (GRCm39)	missense	probably damaging	1.00
R6977:Usp48	UTSW	4	137,377,671 (GRCm39)	missense	probably damaging	1.00
R7749:Usp48	UTSW	4	137,377,728 (GRCm39)	missense	probably damaging	1.00
R7759:Usp48	UTSW	4	137,321,763 (GRCm39)	missense	probably benign	0.25
R7767:Usp48	UTSW	4	137,331,956 (GRCm39)	critical splice donor site	probably null
R7850:Usp48	UTSW	4	137,333,060 (GRCm39)	splice site	probably null
R7881:Usp48	UTSW	4	137,360,766 (GRCm39)	missense	probably benign	0.00
R7897:Usp48	UTSW	4	137,371,739 (GRCm39)	missense	probably damaging	0.96
R8186:Usp48	UTSW	4	137,348,507 (GRCm39)	missense	possibly damaging	0.83
R8198:Usp48	UTSW	4	137,348,470 (GRCm39)	unclassified	probably benign
R8353:Usp48	UTSW	4	137,350,693 (GRCm39)	missense	probably benign	0.00
R8466:Usp48	UTSW	4	137,350,630 (GRCm39)	missense	probably null	1.00
R8506:Usp48	UTSW	4	137,338,029 (GRCm39)	missense	probably damaging	1.00
R8821:Usp48	UTSW	4	137,341,080 (GRCm39)	missense	probably damaging	1.00
R8831:Usp48	UTSW	4	137,341,080 (GRCm39)	missense	probably damaging	1.00
R8911:Usp48	UTSW	4	137,340,996 (GRCm39)	missense	probably benign	0.00
R9043:Usp48	UTSW	4	137,340,996 (GRCm39)	missense	probably benign	0.00
R9044:Usp48	UTSW	4	137,340,996 (GRCm39)	missense	probably benign	0.00
R9289:Usp48	UTSW	4	137,340,996 (GRCm39)	missense	probably benign	0.00
R9295:Usp48	UTSW	4	137,340,996 (GRCm39)	missense	probably benign	0.00
R9296:Usp48	UTSW	4	137,340,996 (GRCm39)	missense	probably benign	0.00
R9297:Usp48	UTSW	4	137,340,996 (GRCm39)	missense	probably benign	0.00
R9317:Usp48	UTSW	4	137,340,996 (GRCm39)	missense	probably benign	0.00
R9460:Usp48	UTSW	4	137,340,996 (GRCm39)	missense	probably benign	0.00
R9480:Usp48	UTSW	4	137,340,996 (GRCm39)	missense	probably benign	0.00
R9481:Usp48	UTSW	4	137,340,996 (GRCm39)	missense	probably benign	0.00
R9520:Usp48	UTSW	4	137,340,996 (GRCm39)	missense	probably benign	0.00
R9521:Usp48	UTSW	4	137,340,996 (GRCm39)	missense	probably benign	0.00
R9522:Usp48	UTSW	4	137,340,996 (GRCm39)	missense	probably benign	0.00
R9627:Usp48	UTSW	4	137,340,996 (GRCm39)	missense	probably benign	0.00
R9698:Usp48	UTSW	4	137,361,202 (GRCm39)	missense	possibly damaging	0.94
R9752:Usp48	UTSW	4	137,341,137 (GRCm39)	missense	probably damaging	1.00
R9784:Usp48	UTSW	4	137,321,812 (GRCm39)	missense	probably benign	0.06
RF002:Usp48	UTSW	4	137,333,106 (GRCm39)	missense	probably damaging	1.00
Z1176:Usp48	UTSW	4	137,331,948 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TGACTGCTCTCCTGTCTGAG -3'
(R):5'- TCCAGCGTTACTTACTAAGCCC -3'

Sequencing Primer
(F):5'- TCTCCTGTCTGAGGGCAG -3'
(R):5'- ATCTTCAGGATGCGAGCCCAG -3'

Posted On

2015-02-05