Mutagenetix > Incidental Mutation

Incidental Mutation 'R1367:Usp48'

156066

Institutional Source

Beutler Lab

Gene Symbol

Usp48

Ensembl Gene

ENSMUSG00000043411

Gene Name

ubiquitin specific peptidase 48

Synonyms

Usp31, 2810449C13Rik, D330022K21Rik

MMRRC Submission

039432-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

R1367 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

137321079-137385842 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 137366606 bp (GRCm39)

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

1x: 98.8%
3x: 97.6%
10x: 94.2%
20x: 86.6%

Validation Efficiency

98% (48/49)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	C	16: 14,261,250 (GRCm39)	V676A	probably damaging	Het
Acvr1b	T	C	15: 101,091,819 (GRCm39)	L33P	possibly damaging	Het
Adamts12	T	G	15: 11,256,980 (GRCm39)		probably benign	Het
Ank1	T	A	8: 23,601,819 (GRCm39)		probably benign	Het
Arhgef10	T	A	8: 14,990,225 (GRCm39)	D233E	probably damaging	Het
Cd209e	T	C	8: 3,899,084 (GRCm39)	*209W	probably null	Het
Cebpz	A	G	17: 79,230,742 (GRCm39)	V825A	probably benign	Het
Cep170	A	G	1: 176,563,290 (GRCm39)	F1575L	probably damaging	Het
Exoc2	A	T	13: 31,066,256 (GRCm39)	Y473*	probably null	Het
F3	A	G	3: 121,523,023 (GRCm39)	T78A	probably damaging	Het
Fanca	G	A	8: 124,031,020 (GRCm39)		probably benign	Het
Gga2	G	A	7: 121,598,138 (GRCm39)	R319*	probably null	Het
Gid8	A	G	2: 180,355,025 (GRCm39)	I10M	probably benign	Het
Glrb	A	G	3: 80,769,311 (GRCm39)	W139R	probably damaging	Het
H2-M1	A	G	17: 36,982,059 (GRCm39)	S181P	probably benign	Het
Hectd3	G	T	4: 116,854,367 (GRCm39)	V310L	probably null	Het
Insyn1	G	T	9: 58,406,263 (GRCm39)	D58Y	probably damaging	Het
Kif17	C	A	4: 138,005,305 (GRCm39)	S290*	probably null	Het
Kif26b	A	G	1: 178,744,028 (GRCm39)	N1375D	probably damaging	Het
Lgr4	C	G	2: 109,821,480 (GRCm39)	P121A	probably damaging	Het
Ly75	A	G	2: 60,124,102 (GRCm39)		probably null	Het
Mfsd13a	C	T	19: 46,354,943 (GRCm39)	T40I	probably benign	Het
Nek3	T	C	8: 22,650,377 (GRCm39)		probably benign	Het
Nin	A	T	12: 70,090,703 (GRCm39)	L904Q	probably damaging	Het
Nlrp14	A	G	7: 106,782,018 (GRCm39)	D405G	probably benign	Het
Nuak1	C	T	10: 84,228,192 (GRCm39)		probably benign	Het
Or5h23	T	A	16: 58,906,706 (GRCm39)	I47F	probably benign	Het
Plcg2	T	A	8: 118,341,977 (GRCm39)	W1113R	probably damaging	Het
Pms2	G	A	5: 143,862,731 (GRCm39)	V613M	probably damaging	Het
Prl3b1	G	A	13: 27,427,848 (GRCm39)	A53T	probably benign	Het
Pxk	T	G	14: 8,150,915 (GRCm38)		probably null	Het
Rasl10b	G	A	11: 83,308,665 (GRCm39)		probably null	Het
Rbm28	A	T	6: 29,137,639 (GRCm39)	I438N	probably damaging	Het
Rictor	T	C	15: 6,820,119 (GRCm39)		probably benign	Het
Slc41a1	A	G	1: 131,771,746 (GRCm39)	T387A	probably benign	Het
Slc44a2	T	C	9: 21,254,322 (GRCm39)	V228A	probably benign	Het
Slpi	A	G	2: 164,196,787 (GRCm39)		probably benign	Het
Tkfc	A	G	19: 10,570,838 (GRCm39)	S481P	probably benign	Het
Tll2	G	A	19: 41,108,667 (GRCm39)	R328C	probably damaging	Het
Tns3	T	C	11: 8,398,704 (GRCm39)	H1216R	probably benign	Het
Ugt2b38	A	T	5: 87,571,973 (GRCm39)	S20T	probably benign	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Zdhhc23	A	G	16: 43,794,513 (GRCm39)	S54P	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
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
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'- GAAAGTAGTTCTTGTTCCTGACCCACC -3'
(R):5'- ACTGTGCTTGTGTCACCACACC -3'

Sequencing Primer
(F):5'- GTTCCTGACCCACCCACAC -3'
(R):5'- CTGTTGCGGACAAAGACACAAT -3'

Posted On

2014-02-11