Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03112:Usp48'

419220

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Usp48

Ensembl Gene

ENSMUSG00000043411

Gene Name

ubiquitin specific peptidase 48

Synonyms

Usp31, 2810449C13Rik, D330022K21Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

IGL03112

Quality Score

Status

Chromosome

Chromosomal Location

137321079-137385842 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 137335375 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 183 (Q183K)

Ref Sequence

ENSEMBL: ENSMUSP00000101466 (fasta)

Gene Model

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

AlphaFold

Q3V0C5

Predicted Effect

probably damaging
Transcript: ENSMUST00000055131
AA Change: Q183K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000055016
Gene: ENSMUSG00000043411
AA Change: Q183K

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: Q183K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101465
Gene: ENSMUSG00000043411
AA Change: Q183K

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: Q183K

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

SMART Domains

Protein: ENSMUSP00000101466
Gene: ENSMUSG00000043411
AA Change: Q183K

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: ENSMUST00000153100

SMART Domains

Protein: ENSMUSP00000123154
Gene: ENSMUSG00000043411

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

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26b	T	C	8: 43,974,549 (GRCm39)	N151S	probably benign	Het
Adgre1	G	A	17: 57,755,029 (GRCm39)		probably null	Het
Apol11a	T	A	15: 77,401,509 (GRCm39)	L332Q	probably damaging	Het
B430306N03Rik	C	T	17: 48,623,834 (GRCm39)	S45L	probably benign	Het
Cend1	G	A	7: 141,007,640 (GRCm39)	T60M	probably benign	Het
Col6a3	C	A	1: 90,739,242 (GRCm39)	E329*	probably null	Het
Col9a3	A	G	2: 180,249,435 (GRCm39)	R266G	possibly damaging	Het
Defb48	C	T	14: 63,221,854 (GRCm39)		probably benign	Het
Eps8l2	T	G	7: 140,941,649 (GRCm39)	L640R	probably damaging	Het
Exoc2	T	A	13: 31,090,570 (GRCm39)		probably benign	Het
Fam149a	C	T	8: 45,801,580 (GRCm39)	V514M	possibly damaging	Het
Fbxo25	A	T	8: 13,971,034 (GRCm39)	D74V	probably benign	Het
Gm11733	A	G	11: 117,377,966 (GRCm39)	*126W	probably null	Het
Grm8	C	T	6: 27,363,262 (GRCm39)	C751Y	probably damaging	Het
Kctd16	A	T	18: 40,391,853 (GRCm39)	D147V	probably benign	Het
Lclat1	A	T	17: 73,546,742 (GRCm39)	T220S	probably damaging	Het
Lgi1	T	A	19: 38,272,478 (GRCm39)	H116Q	possibly damaging	Het
Lrrc40	G	A	3: 157,747,302 (GRCm39)		probably benign	Het
Lsm4	T	A	8: 71,130,656 (GRCm39)	I60N	probably damaging	Het
Morn1	T	A	4: 155,177,601 (GRCm39)	Y178N	probably damaging	Het
Mybl2	A	G	2: 162,904,456 (GRCm39)	E89G	probably damaging	Het
Myo18b	T	C	5: 113,021,856 (GRCm39)	E512G	probably benign	Het
Myrfl	A	T	10: 116,639,311 (GRCm39)	S583T	probably benign	Het
Nek6	A	G	2: 38,450,914 (GRCm39)	I106V	probably damaging	Het
Oas1a	A	T	5: 121,036,412 (GRCm39)	D338E	possibly damaging	Het
Or10ag52	T	A	2: 87,043,944 (GRCm39)	I236N	probably damaging	Het
Or4a76	G	A	2: 89,460,678 (GRCm39)	T188I	probably benign	Het
Or6c1	A	G	10: 129,517,792 (GRCm39)	V272A	probably benign	Het
Pitrm1	C	A	13: 6,615,044 (GRCm39)	Q508K	probably benign	Het
S100b	A	G	10: 76,095,808 (GRCm39)	D62G	probably damaging	Het
Sesn3	A	G	9: 14,221,557 (GRCm39)	H119R	probably damaging	Het
Sez6l	T	A	5: 112,621,333 (GRCm39)	E247V	probably damaging	Het
Shoc1	G	T	4: 59,049,355 (GRCm39)	Q1069K	probably benign	Het
Shq1	C	A	6: 100,550,574 (GRCm39)	E455*	probably null	Het
Slc9b1	T	A	3: 135,103,433 (GRCm39)	M521K	probably damaging	Het
Supt16	A	G	14: 52,413,855 (GRCm39)	F543L	probably damaging	Het
Tcf25	T	C	8: 124,109,258 (GRCm39)		probably benign	Het
Vmn1r178	G	A	7: 23,593,086 (GRCm39)	G45S	probably damaging	Het
Vmn1r237	T	A	17: 21,534,368 (GRCm39)	Y30*	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
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	137,366,606 (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

Posted On

2016-08-02