Mutagenetix > Incidental Mutation

Incidental Mutation 'R1689:Usp48'

189560

Institutional Source

Beutler Lab

Gene Symbol

Usp48

Ensembl Gene

ENSMUSG00000043411

Gene Name

ubiquitin specific peptidase 48

Synonyms

Usp31, D330022K21Rik, 2810449C13Rik

MMRRC Submission

039722-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R1689 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

137593755-137658537 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 137656107 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

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 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 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

noncoding transcript
Transcript: ENSMUST00000125151

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

probably benign
Transcript: ENSMUST00000141628

SMART Domains

Protein: ENSMUSP00000119691
Gene: ENSMUSG00000043411

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

Predicted Effect

probably benign
Transcript: ENSMUST00000151807

SMART Domains

Protein: ENSMUSP00000115526
Gene: ENSMUSG00000043411

Domain	Start	End	E-Value	Type
UBQ	29	97	4.78e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152985

Predicted Effect

probably benign
Transcript: ENSMUST00000153869

SMART Domains

Protein: ENSMUSP00000117989
Gene: ENSMUSG00000043411

Domain	Start	End	E-Value	Type
UBQ	1	69	9.53e-2	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000157012

SMART Domains

Protein: ENSMUSP00000118081
Gene: ENSMUSG00000043411

Domain	Start	End	E-Value	Type
Blast:UBQ	2	42	5e-22	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000157012

SMART Domains

Protein: ENSMUSP00000118081
Gene: ENSMUSG00000043411

Domain	Start	End	E-Value	Type
Blast:UBQ	2	42	5e-22	BLAST

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 46,120,403	K896R	probably benign	Het
Adcy9	A	T	16: 4,297,562		probably null	Het
Adgre1	T	C	17: 57,449,921	F726S	probably benign	Het
Ahctf1	A	T	1: 179,768,383	S148T	probably damaging	Het
Aif1	G	A	17: 35,172,151	P44L	probably benign	Het
Ammecr1l	C	A	18: 31,780,688	A289D	probably benign	Het
Amotl1	T	C	9: 14,593,222	Y230C	probably damaging	Het
Armc6	A	T	8: 70,229,537	S65R	probably benign	Het
Atad2b	T	A	12: 5,034,575	Y1440*	probably null	Het
Atf6b	T	A	17: 34,650,302	D164E	probably damaging	Het
B020004J07Rik	T	A	4: 101,837,179	K169I	possibly damaging	Het
B4galt6	C	T	18: 20,706,496	S127N	probably benign	Het
Bcl11a	A	T	11: 24,163,167	Y170F	probably damaging	Het
Bcl11a	A	T	11: 24,164,406	D583V	possibly damaging	Het
Btnl1	T	A	17: 34,381,208	Y228*	probably null	Het
C130060K24Rik	A	G	6: 65,381,607	N105S	possibly damaging	Het
Cav2	A	G	6: 17,281,422	H21R	probably benign	Het
Celsr2	T	A	3: 108,407,304	D1135V	possibly damaging	Het
Cntnap1	A	C	11: 101,188,873		probably null	Het
Cysltr2	T	C	14: 73,030,030	D80G	possibly damaging	Het
Dclk2	C	T	3: 86,805,639	R503Q	possibly damaging	Het
Dgkh	A	T	14: 78,618,544	M363K	possibly damaging	Het
Eml5	C	T	12: 98,830,935	V1112M	probably damaging	Het
Entpd7	A	G	19: 43,725,476	T425A	probably damaging	Het
Ephx2	T	A	14: 66,087,026	K373*	probably null	Het
F5	G	C	1: 164,198,917	R1686P	probably damaging	Het
Fbxw10	A	T	11: 62,860,036	I482L	probably damaging	Het
Fbxw8	T	C	5: 118,077,617	S443G	probably damaging	Het
Fdft1	T	C	14: 63,156,689	E191G	probably benign	Het
Fgd2	A	G	17: 29,363,722	E26G	probably benign	Het
Gabra4	T	C	5: 71,633,542		probably null	Het
Gc	A	G	5: 89,441,200		probably null	Het
Heatr1	T	A	13: 12,424,625	D1361E	probably benign	Het
Hid1	A	G	11: 115,360,357	F118L	probably damaging	Het
Igsf8	G	T	1: 172,318,937	G564W	probably damaging	Het
Il12rb2	A	G	6: 67,336,760	V4A	probably benign	Het
Irak3	T	C	10: 120,146,552	E335G	probably damaging	Het
Itgb8	T	G	12: 119,170,820	Q504P	probably benign	Het
Kbtbd12	A	T	6: 88,618,585	Y88N	probably damaging	Het
Klk1b5	T	C	7: 44,220,545	I226T	probably damaging	Het
L3hypdh	A	T	12: 72,084,753	I135N	probably damaging	Het
Lrp2	G	T	2: 69,503,529	T1456K	probably benign	Het
Mrgprd	C	A	7: 145,321,717	Y108*	probably null	Het
Muc6	C	T	7: 141,647,998	G742D	probably damaging	Het
Nalcn	T	A	14: 123,285,254	I1572F	probably damaging	Het
Nceh1	A	G	3: 27,226,082	Y126C	probably damaging	Het
Olfr125	T	C	17: 37,835,604	S202P	possibly damaging	Het
Olfr356	A	G	2: 36,937,977	N286S	probably damaging	Het
Olfr867	A	T	9: 20,055,126	N112K	possibly damaging	Het
Pacs1	G	T	19: 5,272,615		probably benign	Het
Pappa2	A	G	1: 158,957,398	L14P	probably damaging	Het
Pdlim2	C	T	14: 70,171,239	G176D	probably damaging	Het
Ptpra	T	C	2: 130,503,492	F5L	probably benign	Het
Ralgapa1	A	G	12: 55,676,767	L2114P	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Senp2	T	A	16: 22,026,666	Y217N	probably damaging	Het
Sned1	C	T	1: 93,283,372	R1061C	probably damaging	Het
Spag16	C	T	1: 70,461,118	T535I	probably benign	Het
Supt20	T	A	3: 54,712,162	L355*	probably null	Het
Tmem132b	A	G	5: 125,787,614	H928R	possibly damaging	Het
Tpo	A	T	12: 30,098,246	L552H	probably damaging	Het
Tsfm	A	T	10: 127,028,455	N130K	probably damaging	Het
Vsig10	A	G	5: 117,352,760	D544G	probably benign	Het
Vsig10l	C	T	7: 43,465,368	T433I	possibly damaging	Het
Wdr81	A	G	11: 75,445,596	F1655L	probably damaging	Het
Wfdc3	T	A	2: 164,734,191	D60V	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
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
R9460:Usp48	UTSW	4	137613685	missense	probably benign	0.00
R9480:Usp48	UTSW	4	137613685	missense	probably benign	0.00
R9481:Usp48	UTSW	4	137613685	missense	probably benign	0.00
R9520:Usp48	UTSW	4	137613685	missense	probably benign	0.00
R9521:Usp48	UTSW	4	137613685	missense	probably benign	0.00
R9522:Usp48	UTSW	4	137613685	missense	probably benign	0.00
R9627:Usp48	UTSW	4	137613685	missense	probably benign	0.00
R9698:Usp48	UTSW	4	137633891	missense	possibly damaging	0.94
R9752:Usp48	UTSW	4	137613826	missense	probably damaging	1.00
R9784:Usp48	UTSW	4	137594501	missense	probably benign	0.06
RF002:Usp48	UTSW	4	137605795	missense	probably damaging	1.00
Z1176:Usp48	UTSW	4	137604637	frame shift	probably null

Predicted Primers

Posted On

2014-05-14