Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02504:Usp21'

296204

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 #

IGL02504

Quality Score

Status

Chromosome

Chromosomal Location

171109523-171115534 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 171112596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 266 (I266T)

Ref Sequence

ENSEMBL: ENSMUSP00000106936 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065941] [ENSMUST00000073120] [ENSMUST00000080001] [ENSMUST00000111302] [ENSMUST00000111305] [ENSMUST00000111306] [ENSMUST00000149187] [ENSMUST00000144576] [ENSMUST00000192956]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000065941
AA Change: I266T

PolyPhen 2 Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000064002
Gene: ENSMUSG00000053483
AA Change: I266T

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

probably benign
Transcript: ENSMUST00000080001

SMART Domains

Protein: ENSMUSP00000078914
Gene: ENSMUSG00000062963

Domain	Start	End	E-Value	Type
Pfam:UFC1	4	164	1.3e-93	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111302

SMART Domains

Protein: ENSMUSP00000106933
Gene: ENSMUSG00000062963

Domain	Start	End	E-Value	Type
Pfam:UFC1	6	160	1.3e-88	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111305
AA Change: I266T

PolyPhen 2 Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106936
Gene: ENSMUSG00000053483
AA Change: I266T

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: ENSMUST00000111306
AA Change: I269T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000106938
Gene: ENSMUSG00000053483
AA Change: I269T

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

probably benign
Transcript: ENSMUST00000149187
AA Change: I266T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000120161
Gene: ENSMUSG00000053483
AA Change: I266T

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: ENSMUST00000147176

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153164

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151442

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126729

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133050

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144393

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152689

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142656

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152621

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127101

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145019

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138974

Predicted Effect

probably benign
Transcript: ENSMUST00000144576

SMART Domains

Protein: ENSMUSP00000137977
Gene: ENSMUSG00000062963

Domain	Start	End	E-Value	Type
Pfam:UFC1	4	91	2e-45	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000174720
AA Change: I131T

SMART Domains

Protein: ENSMUSP00000133362
Gene: ENSMUSG00000053483
AA Change: I131T

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

noncoding transcript
Transcript: ENSMUST00000155083

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago4	T	A	4: 126,411,232 (GRCm39)	N142I	probably benign	Het
Asf1b	A	G	8: 84,682,458 (GRCm39)	M1V	probably null	Het
Astn1	T	C	1: 158,329,978 (GRCm39)	C278R	probably damaging	Het
Ccdc162	A	T	10: 41,428,384 (GRCm39)	L692Q	probably damaging	Het
Cd207	T	A	6: 83,654,788 (GRCm39)		probably benign	Het
Chd5	T	A	4: 152,447,779 (GRCm39)	N548K	probably damaging	Het
Col7a1	G	A	9: 108,809,743 (GRCm39)	G2659D	unknown	Het
Cpa6	A	T	1: 10,559,144 (GRCm39)	Y75N	probably benign	Het
Cspg4	G	T	9: 56,793,056 (GRCm39)	V264L	probably benign	Het
Cyp3a25	T	A	5: 145,930,141 (GRCm39)	I155L	probably benign	Het
Dock6	A	G	9: 21,757,951 (GRCm39)	I51T	probably benign	Het
Dse	G	T	10: 34,028,796 (GRCm39)	Q765K	probably benign	Het
Fam219b	A	T	9: 57,445,351 (GRCm39)	M87L	probably benign	Het
Fat3	G	A	9: 15,871,094 (GRCm39)	R3766C	probably damaging	Het
Fcnb	A	C	2: 27,966,606 (GRCm39)	M309R	probably damaging	Het
Fnbp4	C	A	2: 90,598,887 (GRCm39)	N670K	probably damaging	Het
Fsip2	T	A	2: 82,809,199 (GRCm39)	N1839K	possibly damaging	Het
G6pc2	A	G	2: 69,056,939 (GRCm39)	H195R	probably damaging	Het
Gm14179	A	T	11: 99,634,003 (GRCm39)			Het
Grm5	A	G	7: 87,779,980 (GRCm39)	N1172S	probably benign	Het
Hsd17b14	A	G	7: 45,205,799 (GRCm39)	T64A	possibly damaging	Het
Hspb7	G	T	4: 141,149,131 (GRCm39)	E12D	probably benign	Het
Kdm2a	T	C	19: 4,406,799 (GRCm39)	N155D	possibly damaging	Het
Klhl24	A	T	16: 19,934,693 (GRCm39)	R389*	probably null	Het
Kmt2b	A	G	7: 30,285,968 (GRCm39)		probably benign	Het
Krt4	T	A	15: 101,827,727 (GRCm39)	I469F	unknown	Het
Mto1	A	T	9: 78,368,209 (GRCm39)	D451V	probably damaging	Het
Muc5b	A	T	7: 141,400,177 (GRCm39)	D477V	unknown	Het
Pcsk5	A	G	19: 17,455,236 (GRCm39)		probably null	Het
Ppil4	T	A	10: 7,696,748 (GRCm39)	Y420*	probably null	Het
Ppp2r5d	A	T	17: 47,011,019 (GRCm39)	D27E	probably benign	Het
Prkd2	T	C	7: 16,591,757 (GRCm39)	L596P	probably damaging	Het
Prr30	T	C	14: 101,436,056 (GRCm39)	I169V	probably benign	Het
Rtl9	A	T	X: 141,885,287 (GRCm39)	T900S	probably benign	Het
Sash1	A	G	10: 8,605,676 (GRCm39)	S905P	probably benign	Het
Scn2a	G	A	2: 65,514,228 (GRCm39)	G304D	probably benign	Het
Scp2d1	T	C	2: 144,665,877 (GRCm39)	L72P	probably damaging	Het
Septin2	T	A	1: 93,428,203 (GRCm39)	H166Q	probably benign	Het
Sgcb	A	G	5: 73,801,718 (GRCm39)	I49T	probably damaging	Het
Smyd4	T	A	11: 75,281,507 (GRCm39)	W327R	probably damaging	Het
Sptbn1	C	T	11: 30,092,293 (GRCm39)	E491K	probably damaging	Het
Tcaf1	A	T	6: 42,656,213 (GRCm39)	H254Q	probably benign	Het
Tll1	A	C	8: 64,523,271 (GRCm39)	D480E	possibly damaging	Het
Tlr3	G	A	8: 45,850,944 (GRCm39)	T127M	probably damaging	Het
Trio	A	T	15: 27,847,476 (GRCm39)	C929*	probably null	Het
Ttn	C	T	2: 76,628,494 (GRCm39)	W12809*	probably null	Het
Ugt2b35	T	A	5: 87,149,400 (GRCm39)	M217K	possibly damaging	Het
Unc13b	T	C	4: 43,263,031 (GRCm39)	V4261A	probably damaging	Het
Uqcrc2	T	C	7: 120,242,254 (GRCm39)	I82T	probably benign	Het
Veph1	A	T	3: 66,079,551 (GRCm39)	H321Q	probably damaging	Het
Vmn1r29	A	C	6: 58,284,655 (GRCm39)	Y125S	probably benign	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
IGL01915:Usp21	APN	1	171,110,307 (GRCm39)	missense	possibly damaging	0.92
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

2015-04-16