Mutagenetix > Incidental Mutations

Incidental Mutation 'RF002:Usp48'

602552

Institutional Source

Beutler Lab

Gene Symbol

Usp48

Ensembl Gene

ENSMUSG00000043411

Gene Name

ubiquitin specific peptidase 48

Synonyms

Usp31, D330022K21Rik, 2810449C13Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.961) question?

Stock #

RF002 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

137593755-137658537 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 137605795 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 100 (V100D)

Ref Sequence

ENSEMBL: ENSMUSP00000055016 (fasta)

Gene Model

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

AlphaFold

Q3V0C5

Predicted Effect

probably damaging
Transcript: ENSMUST00000055131
AA Change: V100D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000055016
Gene: ENSMUSG00000043411
AA Change: V100D

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 damaging
Transcript: ENSMUST00000105839
AA Change: V100D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101465
Gene: ENSMUSG00000043411
AA Change: V100D

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 damaging
Transcript: ENSMUST00000105840
AA Change: V100D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101466
Gene: ENSMUSG00000043411
AA Change: V100D

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 damaging
Transcript: ENSMUST00000153100
AA Change: V128D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123154
Gene: ENSMUSG00000043411
AA Change: V128D

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: 99.7%
10x: 99.4%
20x: 98.7%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI837181	CGG	CGGTGG	19: 5,425,234		probably benign	Het
AI837181	GGC	GGCTGC	19: 5,425,235		probably benign	Het
Angptl1	A	T	1: 156,857,224	Q321L	possibly damaging	Het
AY358078	T	TAGGATAATGC	14: 51,805,593		probably null	Het
Blm	CCTCCTCCTCCTCCTCCTCCTCCT	CCTCCTCCTCCTGCTCCTCCTCCTCCTCCTCCTCCT	7: 80,512,905		probably benign	Het
Blm	CTC	CTCATCCTCCTCATC	7: 80,512,927		probably benign	Het
Car13	T	C	3: 14,654,914	Y129H	probably damaging	Het
Cd109	TTATTTATTTAT	TTATTTATTTATGTATTTATTTAT	9: 78,712,523		probably benign	Het
Cd109	TATTTAT	TATTTATTTATTCATTTAT	9: 78,712,528		probably benign	Het
Cdh26	T	C	2: 178,466,631	C341R	probably damaging	Het
Chga	GCA	GCACCA	12: 102,561,421		probably benign	Het
Col11a1	A	T	3: 114,217,001	I1689L	unknown	Het
Dnah6	T	G	6: 73,101,889	S2364R	probably benign	Het
E4f1	CCG	CCGACG	17: 24,455,186		probably benign	Het
Fah	A	C	7: 84,589,628	N336K	probably damaging	Het
Fam71e1	CCTGGGTCTGAGGGAGGA	CCTGGGTCTGAGGGAGGAAGGCTGGATCCTGGATAACTGGGTCTGAGGGAGGA	7: 44,500,520		probably null	Het
Fbxo11	A	T	17: 87,996,053	I664K		Het
Fcgbp	A	G	7: 28,089,755	D582G	probably benign	Het
Gabre	C	CCGGCTA	X: 72,270,057		probably null	Het
Gm1110	A	G	9: 26,920,640	Y72H	probably damaging	Het
Gm14025	A	G	2: 129,038,794	F404S		Het
Inpp5e	C	T	2: 26,408,377	A71T	possibly damaging	Het
Iqcm	C	T	8: 75,577,899	T96I	probably benign	Het
Lce1m	TGCCACCGCTGC	TGCCACCGCTGCCGCCACCGCTGC	3: 93,018,283		probably benign	Het
Lce1m	AC	ACCGCCGCTGCCCC	3: 93,018,299		probably benign	Het
Lrch1	TTGGTGGTGCTGGTGG	TTGGTGG	14: 74,947,574		probably benign	Het
Lyst	A	G	13: 13,634,363	D206G	probably benign	Het
Map4k5	A	T	12: 69,856,856	D58E	probably damaging	Het
Mapkapk2	A	G	1: 131,056,513	S251P	probably damaging	Het
Mcph1	CCTG	CCTGCTG	8: 18,652,529		probably benign	Het
Men1	T	C	19: 6,340,116	S600P	probably damaging	Het
Mllt1	C	T	17: 56,896,300	V394M	probably benign	Het
Mllt1	C	A	17: 56,896,301	M393I	possibly damaging	Het
Nacc1	T	C	8: 84,676,219	E315G	possibly damaging	Het
Nefh	GGGGACTTGGCCTC	GGGGACTTGGCCTCACCTAGGGACTTGGCCTC	11: 4,941,047		probably benign	Het
Nefh	GACTTGGCCTC	GACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,050		probably benign	Het
Nid2	TAACACCGCCA	TA	14: 19,751,366		probably benign	Het
Olfr1484	T	A	19: 13,586,051	I206N	probably damaging	Het
Parp2	A	G	14: 50,817,386	E262G	probably damaging	Het
Pdik1l	TTT	TTTGTTTTTGTGTT	4: 134,279,375		probably null	Het
Pop1	G	A	15: 34,502,437	G90D	probably damaging	Het
Ppp3cc	T	C	14: 70,267,339	T73A	possibly damaging	Het
Prdm15	C	T	16: 97,799,629	D810N	probably damaging	Het
Prpf4b	T	A	13: 34,884,236	S349R	unknown	Het
Rassf6	TCCTGTAGAGCAATGGGGATTC	TCCTGTAGAGCAATGGGGATTCTGCCTCACTCATGGGCCTGTAGAGCAATGGGGATTC	5: 90,608,921		probably benign	Het
Rassf6	GTAGAGCAATGGGGATTC	GTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCTTTAGAGCAATGGGGATTC	5: 90,608,925		probably null	Het
Sdk2	T	C	11: 113,885,252	E208G	probably benign	Het
Smurf2	G	T	11: 106,852,587	P211Q	probably benign	Het
Snx25	C	A	8: 46,116,181		probably null	Het
Spata6	T	A	4: 111,828,305	M469K	probably benign	Het
Spta1	G	T	1: 174,231,360	A1954S	possibly damaging	Het
Sry	CTGGTCGTGGAACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGGTGGTGGTCATGGAACTGCTG	CTGGTCATGGAACTGCTG	Y: 2,662,564		probably benign	Het
Stard8	GAG	GAGTAG	X: 99,066,515		probably null	Het
Tfeb	AGC	AGCGGC	17: 47,786,102		probably benign	Het
Tlcd1	T	A	11: 78,180,194	L203Q	probably benign	Het
Tlr11	T	C	14: 50,361,225	F223L	possibly damaging	Het
Vmn2r56	G	A	7: 12,694,830	T503I	probably benign	Het
Vps18	T	C	2: 119,297,390	L898P	probably damaging	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG	6: 125,036,471		probably benign	Het
Zfp706	T	A	15: 37,003,705	Y39F	probably benign	Het
Zhx3	T	A	2: 160,781,806	N147I	probably damaging	Het

Other mutations in Usp48

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01691:Usp48	APN	4	137623272	critical splice acceptor site	probably null
IGL01864:Usp48	APN	4	137639227	missense	possibly damaging	0.87
IGL02386:Usp48	APN	4	137604523	missense	possibly damaging	0.93
IGL03112:Usp48	APN	4	137608064	missense	probably damaging	1.00
IGL03114:Usp48	APN	4	137656125	missense	probably damaging	1.00
IGL03406:Usp48	APN	4	137639295	missense	possibly damaging	0.90
balfour	UTSW	4	137633455	missense	probably benign	0.00
burlap	UTSW	4	137625276	missense	possibly damaging	0.77
fulfillment	UTSW	4	137638233	missense	probably damaging	1.00
hayao	UTSW	4	137633439	nonsense	probably null
Mei	UTSW	4	137606693	nonsense	probably null
miyazaki	UTSW	4	137608154	missense	probably damaging	1.00
promise	UTSW	4	137634921	missense	probably damaging	1.00
satsuki	UTSW	4	137633126	missense	possibly damaging	0.93
Totoro	UTSW	4	137594483	missense	probably damaging	0.99
IGL02796:Usp48	UTSW	4	137610718	missense	probably damaging	1.00
R0050:Usp48	UTSW	4	137613803	missense	probably damaging	1.00
R0333:Usp48	UTSW	4	137594483	missense	probably damaging	0.99
R0382:Usp48	UTSW	4	137621218	missense	probably benign	0.00
R0423:Usp48	UTSW	4	137616411	missense	probably benign
R0570:Usp48	UTSW	4	137633126	missense	possibly damaging	0.93
R0855:Usp48	UTSW	4	137608154	missense	probably damaging	1.00
R0943:Usp48	UTSW	4	137644470	missense	possibly damaging	0.92
R1367:Usp48	UTSW	4	137639295	missense	possibly damaging	0.90
R1367:Usp48	UTSW	4	137644463	missense	probably damaging	1.00
R1689:Usp48	UTSW	4	137656107	splice site	probably null
R1725:Usp48	UTSW	4	137633422	nonsense	probably null
R2520:Usp48	UTSW	4	137625251	missense	probably benign	0.05
R2965:Usp48	UTSW	4	137613762	missense	probably damaging	1.00
R2966:Usp48	UTSW	4	137613762	missense	probably damaging	1.00
R3026:Usp48	UTSW	4	137594444	missense	probably benign	0.06
R3963:Usp48	UTSW	4	137633439	nonsense	probably null
R4087:Usp48	UTSW	4	137623340	missense	possibly damaging	0.95
R4633:Usp48	UTSW	4	137634900	missense	probably damaging	0.96
R4677:Usp48	UTSW	4	137616381	missense	probably benign	0.16
R4735:Usp48	UTSW	4	137633369	nonsense	probably null
R4932:Usp48	UTSW	4	137615833	missense	probably benign	0.00
R4932:Usp48	UTSW	4	137615834	splice site	probably null
R4935:Usp48	UTSW	4	137650358	missense	probably benign	0.42
R4952:Usp48	UTSW	4	137606693	nonsense	probably null
R5034:Usp48	UTSW	4	137606757	nonsense	probably null
R5153:Usp48	UTSW	4	137616362	missense	possibly damaging	0.68
R5443:Usp48	UTSW	4	137621221	missense	possibly damaging	0.78
R5591:Usp48	UTSW	4	137652652	intron	probably benign
R5825:Usp48	UTSW	4	137623378	missense	probably benign
R5889:Usp48	UTSW	4	137616412	missense	probably benign
R5955:Usp48	UTSW	4	137615818	missense	probably benign
R6089:Usp48	UTSW	4	137605818	missense	probably damaging	1.00
R6443:Usp48	UTSW	4	137613763	missense	probably damaging	1.00
R6473:Usp48	UTSW	4	137609108	critical splice donor site	probably null
R6482:Usp48	UTSW	4	137634921	missense	probably damaging	1.00
R6859:Usp48	UTSW	4	137625276	missense	possibly damaging	0.77
R6916:Usp48	UTSW	4	137638233	missense	probably damaging	1.00
R6977:Usp48	UTSW	4	137650360	missense	probably damaging	1.00
R7749:Usp48	UTSW	4	137650417	missense	probably damaging	1.00
R7759:Usp48	UTSW	4	137594452	missense	probably benign	0.25
R7767:Usp48	UTSW	4	137604645	critical splice donor site	probably null
R7850:Usp48	UTSW	4	137605749	splice site	probably null
R7881:Usp48	UTSW	4	137633455	missense	probably benign	0.00
R7897:Usp48	UTSW	4	137644428	missense	probably damaging	0.96
R8186:Usp48	UTSW	4	137621196	missense	possibly damaging	0.83
R8198:Usp48	UTSW	4	137621159	unclassified	probably benign
R8353:Usp48	UTSW	4	137623382	missense	probably benign	0.00
R8466:Usp48	UTSW	4	137623319	missense	probably null	1.00
R8506:Usp48	UTSW	4	137610718	missense	probably damaging	1.00
R8821:Usp48	UTSW	4	137613769	missense	probably damaging	1.00
R8831:Usp48	UTSW	4	137613769	missense	probably damaging	1.00
R8911:Usp48	UTSW	4	137613685	missense	probably benign	0.00
R9043:Usp48	UTSW	4	137613685	missense	probably benign	0.00
R9044:Usp48	UTSW	4	137613685	missense	probably benign	0.00
R9289:Usp48	UTSW	4	137613685	missense	probably benign	0.00
R9295:Usp48	UTSW	4	137613685	missense	probably benign	0.00
R9296:Usp48	UTSW	4	137613685	missense	probably benign	0.00
R9297:Usp48	UTSW	4	137613685	missense	probably benign	0.00
R9317:Usp48	UTSW	4	137613685	missense	probably benign	0.00
Z1176:Usp48	UTSW	4	137604637	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TGGTGGTCAAACAGAAGGCC -3'
(R):5'- CATAAGAGAACTGGCTGGCAAC -3'

Sequencing Primer
(F):5'- GAAGGCCTCTATGAAAGTTCTGCC -3'
(R):5'- TGGCAACCCCCTCAGGAG -3'

Posted On

2019-12-04