Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01915:Usp21'

179907

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Usp21

Ensembl Gene

ENSMUSG00000053483

Gene Name

ubiquitin specific peptidase 21

Synonyms

Usp23, W53272, ESTM28, Usp16

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01915

Quality Score

Status

Chromosome

Chromosomal Location

171109523-171115534 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 171110307 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 489 (Q489L)

Ref Sequence

ENSEMBL: ENSMUSP00000106938 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065941] [ENSMUST00000073120] [ENSMUST00000111305] [ENSMUST00000111306] [ENSMUST00000149187] [ENSMUST00000192956]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065941
AA Change: Q486L

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000064002
Gene: ENSMUSG00000053483
AA Change: Q486L

Domain	Start	End	E-Value	Type
low complexity region	49	63	N/A	INTRINSIC
low complexity region	68	83	N/A	INTRINSIC
low complexity region	87	104	N/A	INTRINSIC
low complexity region	150	160	N/A	INTRINSIC
Pfam:UCH	211	556	9.4e-66	PFAM
Pfam:UCH_1	212	538	9.6e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000073120

SMART Domains

Protein: ENSMUSP00000072863
Gene: ENSMUSG00000062729

Domain	Start	End	E-Value	Type
Pfam:NAD_binding_8	7	74	1.3e-9	PFAM
Pfam:Amino_oxidase	12	471	1.7e-64	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111305
AA Change: Q486L

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106936
Gene: ENSMUSG00000053483
AA Change: Q486L

Domain	Start	End	E-Value	Type
low complexity region	49	63	N/A	INTRINSIC
low complexity region	68	83	N/A	INTRINSIC
low complexity region	87	104	N/A	INTRINSIC
low complexity region	150	160	N/A	INTRINSIC
Pfam:UCH	211	556	9.4e-66	PFAM
Pfam:UCH_1	212	538	9.6e-24	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111306
AA Change: Q489L

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106938
Gene: ENSMUSG00000053483
AA Change: Q489L

Domain	Start	End	E-Value	Type
low complexity region	49	63	N/A	INTRINSIC
low complexity region	68	83	N/A	INTRINSIC
low complexity region	87	104	N/A	INTRINSIC
low complexity region	150	160	N/A	INTRINSIC
Pfam:UCH	211	559	4.1e-60	PFAM
Pfam:UCH_1	215	541	3.6e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126557

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126729

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126765

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147176

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145019

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151442

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127101

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155083

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133050

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153164

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144393

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152689

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142656

Predicted Effect

probably benign
Transcript: ENSMUST00000149187

SMART Domains

Protein: ENSMUSP00000120161
Gene: ENSMUSG00000053483

Domain	Start	End	E-Value	Type
low complexity region	49	63	N/A	INTRINSIC
low complexity region	68	83	N/A	INTRINSIC
low complexity region	87	104	N/A	INTRINSIC
low complexity region	150	160	N/A	INTRINSIC
Pfam:UCH	211	438	1e-36	PFAM
Pfam:UCH_1	212	436	2.1e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000192956

SMART Domains

Protein: ENSMUSP00000141835
Gene: ENSMUSG00000062729

Domain	Start	End	E-Value	Type
Pfam:NAD_binding_8	7	72	1.6e-7	PFAM
Pfam:Amino_oxidase	12	389	4.7e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174720

SMART Domains

Protein: ENSMUSP00000133362
Gene: ENSMUSG00000053483

Domain	Start	End	E-Value	Type
low complexity region	1	12	N/A	INTRINSIC
low complexity region	21	36	N/A	INTRINSIC
low complexity region	40	57	N/A	INTRINSIC
Pfam:UCH	77	162	4.6e-18	PFAM

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 member of the C19 peptidase family, also known as family 2 of ubiquitin carboxy-terminal hydrolases. The encoded protein cleaves ubiquitin from ubiquitinated proteins for recycling in intracellular protein degradation. The encoded protein is also able to release NEDD8, a ubiquitin-like protein, from NEDD8-conjugated proteins. This gene has been referred to as USP16 and USP23 but is now known as USP21. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a null allele are viable and fertile but develop splenomegaly, show an increased percentage of macrophages and neutrophils in spleen, and are more resistant to vesicular stomatitis virus (VSV) infection with elevated interferon production. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abt1	T	C	13: 23,607,938 (GRCm39)	E22G	unknown	Het
Aoc1l2	T	A	6: 48,908,582 (GRCm39)	D527E	probably damaging	Het
Atp11b	T	G	3: 35,885,612 (GRCm39)	H668Q	probably damaging	Het
Birc6	T	A	17: 74,938,715 (GRCm39)	V2687D	probably benign	Het
Cadm3	T	C	1: 173,168,675 (GRCm39)	T298A	possibly damaging	Het
Car12	G	A	9: 66,670,552 (GRCm39)	A174T	possibly damaging	Het
Ccdc180	T	C	4: 45,904,544 (GRCm39)	L380P	probably damaging	Het
Col7a1	A	T	9: 108,784,813 (GRCm39)	R214W	unknown	Het
Cyp2d26	T	G	15: 82,674,450 (GRCm39)	R477S	probably benign	Het
Dgkd	T	C	1: 87,853,780 (GRCm39)	V541A	possibly damaging	Het
Dip2b	T	A	15: 100,076,392 (GRCm39)	F797I	probably damaging	Het
Dot1l	A	T	10: 80,616,728 (GRCm39)	N63I	probably damaging	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Ints5	T	C	19: 8,874,357 (GRCm39)	I772T	probably benign	Het
Nosip	T	A	7: 44,726,283 (GRCm39)	I230N	probably damaging	Het
Or2r3	A	T	6: 42,448,223 (GRCm39)	D296E	probably benign	Het
Or4d11	A	T	19: 12,013,461 (GRCm39)	L215Q	probably damaging	Het
Or5ac22	T	A	16: 59,135,473 (GRCm39)	Q99L	probably damaging	Het
Or6c210	G	A	10: 129,496,519 (GRCm39)	M281I	probably benign	Het
Orc5	A	T	5: 22,727,381 (GRCm39)		probably benign	Het
Parp1	A	G	1: 180,425,907 (GRCm39)	I879M	probably damaging	Het
Pcdh18	A	G	3: 49,699,370 (GRCm39)	S1031P	probably benign	Het
Pdzd2	A	G	15: 12,371,725 (GRCm39)	S2557P	probably damaging	Het
Rccd1	T	C	7: 79,969,966 (GRCm39)		probably benign	Het
Rsad1	A	G	11: 94,439,803 (GRCm39)		probably null	Het
Samd9l	A	T	6: 3,373,864 (GRCm39)	C1132*	probably null	Het
Sema6d	A	G	2: 124,500,491 (GRCm39)		probably benign	Het
Slc10a5	T	C	3: 10,400,580 (GRCm39)	N27D	probably damaging	Het
Slco1a5	C	T	6: 142,189,599 (GRCm39)	M462I	probably benign	Het
Tyw5	T	C	1: 57,440,628 (GRCm39)	T45A	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r20	A	G	6: 123,370,924 (GRCm39)	S519P	possibly damaging	Het

Other mutations in Usp21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01700:Usp21	APN	1	171,110,975 (GRCm39)	missense	probably damaging	0.96
IGL01726:Usp21	APN	1	171,111,574 (GRCm39)	missense	probably damaging	1.00
IGL02504:Usp21	APN	1	171,112,596 (GRCm39)	missense	probably benign	0.39
IGL02646:Usp21	APN	1	171,110,669 (GRCm39)	unclassified	probably benign
R0513:Usp21	UTSW	1	171,110,588 (GRCm39)	unclassified	probably benign
R0513:Usp21	UTSW	1	171,110,586 (GRCm39)	unclassified	probably benign
R0570:Usp21	UTSW	1	171,111,319 (GRCm39)	unclassified	probably benign
R1582:Usp21	UTSW	1	171,110,655 (GRCm39)	missense	probably damaging	1.00
R1700:Usp21	UTSW	1	171,111,295 (GRCm39)	missense	probably damaging	1.00
R4061:Usp21	UTSW	1	171,112,974 (GRCm39)	unclassified	probably benign
R4073:Usp21	UTSW	1	171,109,746 (GRCm39)	unclassified	probably benign
R5914:Usp21	UTSW	1	171,109,745 (GRCm39)	unclassified	probably benign
R6879:Usp21	UTSW	1	171,110,077 (GRCm39)	missense	probably damaging	1.00
R7611:Usp21	UTSW	1	171,113,142 (GRCm39)	missense	probably benign	0.00
R7857:Usp21	UTSW	1	171,114,335 (GRCm39)	missense	probably benign	0.27
R8356:Usp21	UTSW	1	171,112,290 (GRCm39)	missense	probably damaging	1.00
R8456:Usp21	UTSW	1	171,112,290 (GRCm39)	missense	probably damaging	1.00
R8539:Usp21	UTSW	1	171,111,246 (GRCm39)	missense	probably damaging	0.99
R9514:Usp21	UTSW	1	171,112,503 (GRCm39)	missense	probably damaging	1.00
R9534:Usp21	UTSW	1	171,110,942 (GRCm39)	missense	probably benign	0.32

Posted On

2014-05-07