Mutagenetix > Incidental Mutation

Incidental Mutation 'R6473:Usp48'

520332

Institutional Source

Beutler Lab

Gene Symbol

Usp48

Ensembl Gene

ENSMUSG00000043411

Gene Name

ubiquitin specific peptidase 48

Synonyms

Usp31, 2810449C13Rik, D330022K21Rik

MMRRC Submission

044606-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.953) question?

Stock #

R6473 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

137321079-137385842 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 137336419 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101466 (fasta)

Gene Model

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

AlphaFold

Q3V0C5

Predicted Effect

probably null
Transcript: ENSMUST00000055131

SMART Domains

Protein: ENSMUSP00000055016
Gene: ENSMUSG00000043411

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 null
Transcript: ENSMUST00000105839

SMART Domains

Protein: ENSMUSP00000101465
Gene: ENSMUSG00000043411

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 null
Transcript: ENSMUST00000105840

SMART Domains

Protein: ENSMUSP00000101466
Gene: ENSMUSG00000043411

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

SMART Domains

Protein: ENSMUSP00000123154
Gene: ENSMUSG00000043411

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: 99.9%
3x: 99.4%
10x: 96.9%
20x: 89.9%

Validation Efficiency

95% (36/38)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	T	C	16: 85,596,531 (GRCm39)	D106G	probably damaging	Het
Adat3	A	G	10: 80,442,801 (GRCm39)	D213G	probably damaging	Het
Akt1	T	C	12: 112,628,694 (GRCm39)	D32G	probably damaging	Het
Ampd1	C	T	3: 103,002,962 (GRCm39)	R61*	probably null	Het
Ash2l	T	A	8: 26,325,008 (GRCm39)	T184S	probably damaging	Het
B3galnt1	T	C	3: 69,482,673 (GRCm39)	N196S	possibly damaging	Het
Chmp2b	C	T	16: 65,343,758 (GRCm39)	G96S	probably damaging	Het
Cyp2d26	T	C	15: 82,675,968 (GRCm39)	N248S	probably benign	Het
Cyp46a1	G	T	12: 108,321,734 (GRCm39)	R320L	possibly damaging	Het
Dact1	A	G	12: 71,364,472 (GRCm39)	T418A	probably benign	Het
Ddx3y	T	C	Y: 1,265,971 (GRCm39)	Y342C	possibly damaging	Homo
Dnm3	T	A	1: 162,305,274 (GRCm39)	Q40L	probably damaging	Het
Eif2s1	T	C	12: 78,927,999 (GRCm39)	I225T	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Eps8	A	T	6: 137,456,096 (GRCm39)	I795N	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fbxw7	T	C	3: 84,859,687 (GRCm39)		probably benign	Het
Gba1	C	T	3: 89,111,388 (GRCm39)	P51L	probably benign	Het
Idh3b	AG	AGCACCACAACTG	2: 130,121,593 (GRCm39)		probably null	Het
Kalrn	A	G	16: 34,025,672 (GRCm39)	I551T	probably damaging	Het
Madd	T	C	2: 90,997,404 (GRCm39)	T755A	probably benign	Het
Mrps31	A	G	8: 22,904,881 (GRCm39)	D90G	probably benign	Het
Or14j4	T	A	17: 37,920,887 (GRCm39)	T252S	possibly damaging	Het
Or5h23	A	T	16: 58,906,406 (GRCm39)	L147M	probably benign	Het
P2ry12	T	A	3: 59,124,932 (GRCm39)	I248F	probably benign	Het
Ptgfrn	T	C	3: 100,952,955 (GRCm39)	R760G	probably damaging	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Homo
Slpi	T	C	2: 164,196,846 (GRCm39)	Y116C	probably damaging	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Terb1	T	A	8: 105,199,669 (GRCm39)	E425V	probably damaging	Het
Thbs2	A	G	17: 14,906,058 (GRCm39)	S281P	probably benign	Het
Tnik	A	G	3: 28,317,792 (GRCm39)	M1V	probably null	Het
Usp16	G	A	16: 87,280,023 (GRCm39)	S741N	probably benign	Het
Vipr1	T	C	9: 121,497,621 (GRCm39)	S380P	probably damaging	Het
Vmn1r21	A	T	6: 57,820,583 (GRCm39)	I287K	probably damaging	Het
Zfp157	T	C	5: 138,454,188 (GRCm39)	C129R	probably damaging	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
R3026:Usp48	UTSW	4	137,321,755 (GRCm39)	missense	probably benign	0.06
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
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'- TGTGCTGCAGAGACATAAGCTG -3'
(R):5'- GTGCTGCCTATAACCAAGCAC -3'

Sequencing Primer
(F):5'- AGAGACATAAGCTGCTCTTCTC -3'
(R):5'- GTGCTCTAAACTTAAGTTAAGGTGC -3'

Posted On

2018-06-06