Mutagenetix > Incidental Mutation

Incidental Mutation 'R0943:Usp48'

81958

Institutional Source

Beutler Lab

Gene Symbol

Usp48

Ensembl Gene

ENSMUSG00000043411

Gene Name

ubiquitin specific peptidase 48

Synonyms

Usp31, 2810449C13Rik, D330022K21Rik

MMRRC Submission

039082-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

R0943 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

137321079-137385842 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 137371781 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 969 (N969S)

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: N969S

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000055016
Gene: ENSMUSG00000043411
AA Change: N969S

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: ENSMUST00000105840
AA Change: N953S

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000101466
Gene: ENSMUSG00000043411
AA Change: N953S

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

unknown
Transcript: ENSMUST00000141426
AA Change: N77S

SMART Domains

Protein: ENSMUSP00000118084
Gene: ENSMUSG00000043411
AA Change: N77S

Domain	Start	End	E-Value	Type
UBQ	63	131	4.78e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000141628
AA Change: N200S

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000119691
Gene: ENSMUSG00000043411
AA Change: N200S

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

Predicted Effect

unknown
Transcript: ENSMUST00000151807
AA Change: N43S

SMART Domains

Protein: ENSMUSP00000115526
Gene: ENSMUSG00000043411
AA Change: N43S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152985

Predicted Effect

unknown
Transcript: ENSMUST00000153869
AA Change: N15S

SMART Domains

Protein: ENSMUSP00000117989
Gene: ENSMUSG00000043411
AA Change: N15S

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

Meta Mutation Damage Score

0.0879

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.5%

Validation Efficiency

97% (36/37)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtpbp1	T	C	13: 59,648,416 (GRCm39)	N468S	probably benign	Het
Card6	A	G	15: 5,129,768 (GRCm39)	S543P	probably damaging	Het
Celsr1	T	G	15: 85,787,489 (GRCm39)	T2750P	probably damaging	Het
Csmd3	A	G	15: 47,539,135 (GRCm39)	M2341T	probably damaging	Het
Dym	A	G	18: 75,419,840 (GRCm39)	*670W	probably null	Het
Ehbp1	T	C	11: 22,045,883 (GRCm39)	D597G	probably benign	Het
Emx1	G	A	6: 85,180,901 (GRCm39)	W206*	probably null	Het
Esr1	A	G	10: 4,696,781 (GRCm39)	K210R	probably damaging	Het
Extl1	TGCGTTGCACCGATACCGGG	TG	4: 134,084,988 (GRCm39)		probably benign	Het
Fads2b	C	T	2: 85,319,109 (GRCm39)	D398N	probably damaging	Het
Fam72a	T	C	1: 131,456,517 (GRCm39)	S27P	possibly damaging	Het
Fanca	A	T	8: 124,000,925 (GRCm39)	C1152S	probably damaging	Het
Fras1	G	A	5: 96,874,402 (GRCm39)	V2276I	probably benign	Het
Hoxb13	A	G	11: 96,086,799 (GRCm39)	E202G	probably benign	Het
Lcmt1	T	G	7: 123,000,662 (GRCm39)		probably null	Het
Nars2	C	T	7: 96,605,138 (GRCm39)		probably benign	Het
Neil3	ATATTTATTTATTTATTTATTTATTTATTTATT	ATATTTATTTATTTATTTATTTATTTATTTATTTATT	8: 54,062,404 (GRCm39)		probably benign	Het
Nup153	T	C	13: 46,850,248 (GRCm39)		probably benign	Het
Or4c10b	T	C	2: 89,711,305 (GRCm39)	V45A	probably benign	Het
Or5b112	C	A	19: 13,319,157 (GRCm39)	H12N	probably benign	Het
Prkar2a	T	C	9: 108,610,475 (GRCm39)		probably benign	Het
Ptprc	T	C	1: 138,038,902 (GRCm39)	T209A	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnf26rt	T	C	6: 76,473,398 (GRCm39)	H406R	probably benign	Het
Rprd2	C	T	3: 95,691,559 (GRCm39)	V239I	possibly damaging	Het
Sgo2b	A	G	8: 64,384,369 (GRCm39)	F209S	possibly damaging	Het
Shfl	A	T	9: 20,784,258 (GRCm39)	H160L	possibly damaging	Het
Spry2	T	C	14: 106,131,021 (GRCm39)	Y55C	probably damaging	Het
Tbc1d32	A	T	10: 56,037,243 (GRCm39)	V667E	probably benign	Het
Tbrg4	A	G	11: 6,569,008 (GRCm39)	F388L	probably damaging	Het
Tmt1a	T	C	15: 100,202,839 (GRCm39)	Y20H	probably benign	Het
Tshz1	T	C	18: 84,033,356 (GRCm39)	T351A	probably benign	Het
Vmn2r108	A	T	17: 20,691,397 (GRCm39)	C375*	probably null	Het
Vps45	T	A	3: 95,964,336 (GRCm39)	I62F	probably benign	Het
Xab2	A	G	8: 3,663,667 (GRCm39)	F388L	probably benign	Het
Zfp735	A	G	11: 73,602,909 (GRCm39)	T618A	probably benign	Het
Zswim2	T	A	2: 83,748,342 (GRCm39)	R279S	possibly 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
R1367:Usp48	UTSW	4	137,366,606 (GRCm39)	missense	possibly damaging	0.90
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'- TGCACTGTGCTTGATTCACAGGG -3'
(R):5'- TGCTGGAATGGATCTGAAACTACCAAC -3'

Sequencing Primer
(F):5'- TGTTTACTCAAAGAAGCTCCCG -3'
(R):5'- ccagcattcaggaggcaaag -3'

Posted On

2013-11-08