Mutagenetix > Incidental Mutation

Incidental Mutation 'R7611:Usp21'

588578

Institutional Source

Beutler Lab

Gene Symbol

Usp21

Ensembl Gene

ENSMUSG00000053483

Gene Name

ubiquitin specific peptidase 21

Synonyms

Usp23, W53272, ESTM28, Usp16

MMRRC Submission

045715-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7611 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

171109523-171115534 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 171113142 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 211 (H211Q)

Ref Sequence

ENSEMBL: ENSMUSP00000106938 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000065941
AA Change: H211Q

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000064002
Gene: ENSMUSG00000053483
AA Change: H211Q

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: H211Q

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000106936
Gene: ENSMUSG00000053483
AA Change: H211Q

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: H211Q

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000106938
Gene: ENSMUSG00000053483
AA Change: H211Q

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

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

probably benign
Transcript: ENSMUST00000149187
AA Change: H211Q

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000120161
Gene: ENSMUSG00000053483
AA Change: H211Q

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

SMART Domains

Protein: ENSMUSP00000133362
Gene: ENSMUSG00000053483
AA Change: H76Q

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	G	A	19: 34,229,931 (GRCm39)	T8I	probably benign	Het
Adcy8	C	T	15: 64,792,882 (GRCm39)	G25S	probably benign	Het
Ahnak2	G	T	12: 112,751,749 (GRCm39)	D35E		Het
Birc6	T	C	17: 74,969,713 (GRCm39)	M4261T	probably damaging	Het
Caln1	T	G	5: 130,534,918 (GRCm39)	F45V	probably damaging	Het
Camta2	A	T	11: 70,572,372 (GRCm39)	I313N	possibly damaging	Het
Capns1	T	A	7: 29,889,539 (GRCm39)	E220V	probably damaging	Het
Carmil1	C	A	13: 24,197,315 (GRCm39)	V1374L	probably benign	Het
Casp2	T	G	6: 42,250,972 (GRCm39)	L290R	possibly damaging	Het
Cdkn2b	C	A	4: 89,228,980 (GRCm39)	V19L	probably benign	Het
Ces1c	T	C	8: 93,851,139 (GRCm39)	N162D	probably benign	Het
Cfap96	A	G	8: 46,423,488 (GRCm39)	Y75H	probably damaging	Het
Chd9	T	C	8: 91,763,017 (GRCm39)	S2281P	probably damaging	Het
Chst13	T	C	6: 90,285,999 (GRCm39)	D321G	probably damaging	Het
Ckap2l	G	T	2: 129,127,600 (GRCm39)	P193T	possibly damaging	Het
Clca4b	T	A	3: 144,627,757 (GRCm39)	T405S	probably benign	Het
Cmah	T	C	13: 24,619,630 (GRCm39)	V265A	probably benign	Het
Cyp3a11	A	T	5: 145,797,191 (GRCm39)	M396K	probably benign	Het
Ddr2	A	T	1: 169,825,727 (GRCm39)	M291K	possibly damaging	Het
Ddx43	T	A	9: 78,309,635 (GRCm39)	I145N	probably benign	Het
Ephb2	T	A	4: 136,388,212 (GRCm39)		probably null	Het
Fgfr1	A	T	8: 26,048,221 (GRCm39)	K106*	probably null	Het
Gpr6	A	G	10: 40,946,875 (GRCm39)	F236L	probably benign	Het
Grin2c	A	G	11: 115,143,511 (GRCm39)	S750P	probably damaging	Het
Hecw2	A	G	1: 53,952,459 (GRCm39)	S925P	probably damaging	Het
Hivep3	CGG	CG	4: 119,955,108 (GRCm39)	1141	probably null	Het
Hmg20b	T	A	10: 81,185,432 (GRCm39)		probably benign	Het
Kcnk10	T	A	12: 98,484,899 (GRCm39)	Y79F	probably damaging	Het
Lrrc30	A	T	17: 67,939,424 (GRCm39)	F52Y	probably damaging	Het
Lrriq1	T	C	10: 103,036,432 (GRCm39)	K907R	possibly damaging	Het
Mbd3	T	C	10: 80,231,352 (GRCm39)	D63G	probably damaging	Het
Mettl21a	C	T	1: 64,654,266 (GRCm39)	A84T	probably benign	Het
Mmp19	A	G	10: 128,634,857 (GRCm39)	D491G	probably benign	Het
Mug1	A	T	6: 121,852,387 (GRCm39)		probably null	Het
Myh1	A	T	11: 67,101,243 (GRCm39)	H673L	possibly damaging	Het
Nlrc5	T	C	8: 95,239,276 (GRCm39)		probably null	Het
Nme9	T	A	9: 99,352,843 (GRCm39)	S264R	probably benign	Het
Nup153	T	C	13: 46,840,798 (GRCm39)	T937A	probably benign	Het
Obsl1	T	C	1: 75,482,024 (GRCm39)	E282G	probably damaging	Het
Or1o3	A	G	17: 37,573,745 (GRCm39)	V270A	probably benign	Het
Or2w2	A	G	13: 21,758,488 (GRCm39)	V46A	probably benign	Het
Or4l15	C	A	14: 50,198,368 (GRCm39)	A54S	probably benign	Het
Or5an10	T	A	19: 12,276,242 (GRCm39)	M85L	probably damaging	Het
Or5b99	T	A	19: 12,976,431 (GRCm39)	I27N	possibly damaging	Het
Or5m5	T	A	2: 85,814,407 (GRCm39)	C74*	probably null	Het
Or8k30	T	A	2: 86,339,397 (GRCm39)	I198K	possibly damaging	Het
Pcdhga12	T	C	18: 37,901,478 (GRCm39)	F770S	possibly damaging	Het
Pfkp	T	A	13: 6,655,119 (GRCm39)		probably null	Het
Prr29	C	G	11: 106,267,158 (GRCm39)	H58D	probably damaging	Het
Ptprz1	T	A	6: 23,001,219 (GRCm39)	M1103K	probably benign	Het
Rigi	T	C	4: 40,225,651 (GRCm39)	E250G	probably damaging	Het
Rsph4a	C	T	10: 33,781,473 (GRCm39)	P108S	probably benign	Het
Setd1b	A	C	5: 123,290,657 (GRCm39)	M875L	unknown	Het
Slc15a2	A	G	16: 36,576,673 (GRCm39)	S485P	probably benign	Het
Smoc1	A	G	12: 81,226,444 (GRCm39)	D423G	probably damaging	Het
Spast	T	A	17: 74,676,198 (GRCm39)	V337D	probably damaging	Het
Spesp1	T	C	9: 62,179,987 (GRCm39)	K307R	possibly damaging	Het
Sulf1	A	G	1: 12,906,467 (GRCm39)	E503G	probably benign	Het
Susd6	T	C	12: 80,921,341 (GRCm39)	Y313H	probably damaging	Het
Them4	A	T	3: 94,238,865 (GRCm39)	D224V	possibly damaging	Het
Tpsg1	G	T	17: 25,592,184 (GRCm39)	G86V	probably damaging	Het
Tspear	A	T	10: 77,717,049 (GRCm39)	T575S	probably benign	Het
Vmn1r189	T	C	13: 22,286,322 (GRCm39)	S172G	probably benign	Het
Vmn2r114	T	C	17: 23,515,944 (GRCm39)	S516G	probably damaging	Het
Vmn2r28	T	A	7: 5,484,255 (GRCm39)	R648S	probably benign	Het
Vmn2r6	C	A	3: 64,472,563 (GRCm39)	V53F	probably damaging	Het
Vmn2r76	A	G	7: 85,879,388 (GRCm39)	I304T	probably benign	Het
Vmn2r88	A	C	14: 51,651,454 (GRCm39)	Y256S		Het
Zfhx4	A	T	3: 5,468,831 (GRCm39)	K3021N	probably damaging	Het
Zfp647	T	C	15: 76,795,988 (GRCm39)	H224R	probably damaging	Het
Zfp865	A	G	7: 5,034,130 (GRCm39)	E705G	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- TAGCACGGCATTCAGGAAGC -3'
(R):5'- CAGCTGTGATGGGCTTACTACTC -3'

Sequencing Primer
(F):5'- TGGGGACACTGCTGTTACC -3'
(R):5'- GGCTTACTACTCATGACCAGTGAG -3'

Posted On

2019-10-24