Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01700:Usp21'

104444

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 #

IGL01700

Quality Score

Status

Chromosome

Chromosomal Location

171109523-171115534 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 171110975 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 421 (F421I)

Ref Sequence

ENSEMBL: ENSMUSP00000120161 (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: F421I

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000064002
Gene: ENSMUSG00000053483
AA Change: F421I

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: F421I

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106936
Gene: ENSMUSG00000053483
AA Change: F421I

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: F424I

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106938
Gene: ENSMUSG00000053483
AA Change: F424I

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

probably damaging
Transcript: ENSMUST00000149187
AA Change: F421I

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000120161
Gene: ENSMUSG00000053483
AA Change: F421I

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

noncoding transcript
Transcript: ENSMUST00000152689

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142656

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151442

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144393

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127101

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155083

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153164

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133050

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145019

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147176

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

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

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,319,549 (GRCm39)	M1778L	probably benign	Het
Aldh6a1	C	T	12: 84,486,312 (GRCm39)	C202Y	probably damaging	Het
Ankrd36	A	G	11: 5,582,198 (GRCm39)	T276A	probably benign	Het
Ankrd55	T	C	13: 112,517,702 (GRCm39)	I556T	probably benign	Het
Aqp4	A	G	18: 15,532,922 (GRCm39)	I57T	probably benign	Het
Atp1a1	T	C	3: 101,501,574 (GRCm39)	D43G	possibly damaging	Het
Cyld	G	A	8: 89,433,727 (GRCm39)	R172H	probably damaging	Het
Ear2	A	T	14: 44,340,716 (GRCm39)	R125*	probably null	Het
Efcab9	T	C	11: 32,477,451 (GRCm39)	R24G	probably damaging	Het
F7	C	A	8: 13,078,685 (GRCm39)	Q39K	probably benign	Het
Galntl6	A	T	8: 58,411,494 (GRCm39)		probably benign	Het
Kcnj5	A	G	9: 32,233,925 (GRCm39)	V130A	probably damaging	Het
Magee2	A	G	X: 103,899,574 (GRCm39)	I359T	possibly damaging	Het
Myh1	T	G	11: 67,102,238 (GRCm39)	I843S	probably damaging	Het
Nfat5	T	A	8: 108,065,762 (GRCm39)	M98K	probably damaging	Het
Nrip3	T	A	7: 109,361,074 (GRCm39)	N200I	possibly damaging	Het
Or6c219	A	T	10: 129,781,810 (GRCm39)	N40K	probably damaging	Het
Phkb	A	T	8: 86,744,094 (GRCm39)	Q581L	probably benign	Het
Plxdc2	T	C	2: 16,516,926 (GRCm39)	V69A	probably benign	Het
Pou3f1	G	T	4: 124,552,650 (GRCm39)	W384L	probably damaging	Het
Prrc2a	G	A	17: 35,369,643 (GRCm39)	S1890L	possibly damaging	Het
Psmc1	C	A	12: 100,079,337 (GRCm39)	P27H	probably damaging	Het
Pvr	C	A	7: 19,643,157 (GRCm39)	A359S	probably benign	Het
Rasal1	A	T	5: 120,814,882 (GRCm39)	I711F	probably benign	Het
Ror1	C	T	4: 100,266,968 (GRCm39)	A223V	probably damaging	Het
Slc22a16	A	T	10: 40,479,904 (GRCm39)	I638L	unknown	Het
Slfn10-ps	C	T	11: 82,919,938 (GRCm39)		noncoding transcript	Het
Sptbn4	A	G	7: 27,103,693 (GRCm39)	L1176P	probably damaging	Het
Utp25	G	A	1: 192,800,573 (GRCm39)	P416S	probably damaging	Het
Vmn1r61	T	A	7: 5,614,202 (GRCm39)	R37S	possibly damaging	Het
Vps13a	G	A	19: 16,722,221 (GRCm39)	R364*	probably null	Het
Vps29	A	G	5: 122,500,930 (GRCm39)	Y165C	probably damaging	Het
Wdfy4	T	C	14: 32,742,195 (GRCm39)		probably benign	Het
Wdr24	A	G	17: 26,044,802 (GRCm39)	D219G	probably damaging	Het
Xpo1	T	C	11: 23,226,422 (GRCm39)		probably benign	Het
Zfp831	C	A	2: 174,486,711 (GRCm39)	T462K	possibly damaging	Het
Zswim5	T	C	4: 116,843,658 (GRCm39)		probably benign	Het

Other mutations in Usp21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01726:Usp21	APN	1	171,111,574 (GRCm39)	missense	probably damaging	1.00
IGL01915:Usp21	APN	1	171,110,307 (GRCm39)	missense	possibly damaging	0.92
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

2014-01-21