Mutagenetix > Incidental Mutation

Incidental Mutation 'R8198:Usp48'

635529

Institutional Source

Beutler Lab

Gene Symbol

Usp48

Ensembl Gene

ENSMUSG00000043411

Gene Name

ubiquitin specific peptidase 48

Synonyms

Usp31, 2810449C13Rik, D330022K21Rik

MMRRC Submission

067621-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

R8198 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

137321079-137385842 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 137348470 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055131] [ENSMUST00000105837] [ENSMUST00000105838] [ENSMUST00000105839] [ENSMUST00000105840]

AlphaFold

Q3V0C5

Predicted Effect

silent
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: ENSMUST00000105837

SMART Domains

Protein: ENSMUSP00000101463
Gene: ENSMUSG00000043411

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

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

silent
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

silent
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: ENSMUST00000128065

SMART Domains

Protein: ENSMUSP00000115533
Gene: ENSMUSG00000043411

Domain	Start	End	E-Value	Type
Blast:DUSP	9	111	2e-13	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (47/47)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024B05Rik	T	C	14: 41,825,017 (GRCm39)	*168R	probably null	Het
Adgrb1	C	A	15: 74,411,094 (GRCm39)	T330K	probably damaging	Het
Ankrd27	T	C	7: 35,307,880 (GRCm39)	V373A	probably benign	Het
Aoah	C	T	13: 21,101,290 (GRCm39)	P270L	probably damaging	Het
AU041133	C	G	10: 81,987,249 (GRCm39)	P301A	probably damaging	Het
Aven	C	T	2: 112,390,120 (GRCm39)	R8W	probably benign	Het
Cd2bp2	A	G	7: 126,793,576 (GRCm39)	S204P	possibly damaging	Het
Clca4b	C	A	3: 144,638,167 (GRCm39)	G32C	probably damaging	Het
Clcn2	A	G	16: 20,525,946 (GRCm39)	V808A	probably damaging	Het
Clec4d	T	C	6: 123,244,965 (GRCm39)	C82R	probably damaging	Het
Dennd1c	T	C	17: 57,373,460 (GRCm39)	D671G	possibly damaging	Het
Eml5	G	A	12: 98,825,145 (GRCm39)	R691*	probably null	Het
Fcnb	C	T	2: 27,968,330 (GRCm39)	S209N	possibly damaging	Het
Gm4922	T	C	10: 18,659,340 (GRCm39)	T461A	probably benign	Het
Gm9964	A	G	11: 79,187,405 (GRCm39)	V14A	unknown	Het
Gnb3	T	C	6: 124,814,000 (GRCm39)	Y196C	probably benign	Het
H4c2	C	G	13: 23,941,283 (GRCm39)	Q94E	possibly damaging	Het
Hps1	C	T	19: 42,755,659 (GRCm39)	R189Q	probably benign	Het
Iars2	G	A	1: 185,029,703 (GRCm39)	T638I	probably benign	Het
Itpripl2	A	G	7: 118,089,819 (GRCm39)	S247P	probably damaging	Het
Leng8	C	A	7: 4,147,170 (GRCm39)	R523S	possibly damaging	Het
Lhfpl3	T	A	5: 23,478,333 (GRCm39)	V72D	probably benign	Het
Lmntd2	A	T	7: 140,791,134 (GRCm39)	M426K	possibly damaging	Het
Lsg1	A	T	16: 30,383,594 (GRCm39)	V542E	probably benign	Het
Mphosph6	C	T	8: 118,519,449 (GRCm39)	V108I	probably benign	Het
Mta2	A	G	19: 8,925,145 (GRCm39)	T338A	probably benign	Het
Ncoa7	T	C	10: 30,580,664 (GRCm39)	N98S	probably benign	Het
Or52h7	T	A	7: 104,214,140 (GRCm39)	D237E	probably benign	Het
Or7a36	C	A	10: 78,820,443 (GRCm39)	T273K	probably benign	Het
Or7a42	T	A	10: 78,791,558 (GRCm39)	V173E	probably damaging	Het
Pgr	T	C	9: 8,958,411 (GRCm39)	V806A	possibly damaging	Het
Rad54b	T	C	4: 11,612,440 (GRCm39)		probably null	Het
Sdad1	A	T	5: 92,439,811 (GRCm39)	C405S	probably damaging	Het
Semp2l2a	T	A	8: 13,887,056 (GRCm39)	Y345F	probably benign	Het
Shoc1	T	C	4: 59,065,174 (GRCm39)	I814V	probably benign	Het
Smg1	T	C	7: 117,744,829 (GRCm39)	I3108V	probably benign	Het
Spink5	A	T	18: 44,125,947 (GRCm39)	I409F	probably benign	Het
Syt13	C	A	2: 92,783,899 (GRCm39)	L390M	probably damaging	Het
Taf5	T	A	19: 47,064,212 (GRCm39)	V385E	probably damaging	Het
Tdrd9	T	A	12: 112,006,863 (GRCm39)	V909E	probably damaging	Het
Tex9	G	A	9: 72,387,940 (GRCm39)		probably benign	Het
Timm10b	G	T	7: 105,327,537 (GRCm39)	E61*	probably null	Het
Tmprss11g	A	T	5: 86,646,352 (GRCm39)	F72I	probably benign	Het
Trank1	T	C	9: 111,219,880 (GRCm39)	C2206R	probably benign	Het
Uba52rt	C	A	4: 3,973,346 (GRCm39)	R72L	probably benign	Het
Unc45b	GC	G	11: 82,816,814 (GRCm39)		probably null	Het
Unc93b1	T	C	19: 3,991,910 (GRCm39)	S215P	possibly damaging	Het
Vmn1r81	A	G	7: 11,993,882 (GRCm39)	V242A	possibly damaging	Het
Zgrf1	T	A	3: 127,389,673 (GRCm39)		probably null	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
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
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'- TGCCTTGTATCAGTCAGTCAGTC -3'
(R):5'- CGAGCCTCTCTAAGGGAATTCG -3'

Sequencing Primer
(F):5'- GTCAGTCAGTCAGTCAAAACCTGTAG -3'
(R):5'- GCCTCTCTAAGGGAATTCGTTTTGAC -3'

Posted On

2020-07-13