Incidental Mutation 'IGL02646:Usp21'
ID301970
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp21
Ensembl Gene ENSMUSG00000053483
Gene Nameubiquitin specific peptidase 21
SynonymsUsp23, W53272, ESTM28, Usp16
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02646
Quality Score
Status
Chromosome1
Chromosomal Location171281945-171287991 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 171283095 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141835 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065941] [ENSMUST00000073120] [ENSMUST00000111305] [ENSMUST00000111306] [ENSMUST00000149187] [ENSMUST00000192956]
Predicted Effect probably benign
Transcript: ENSMUST00000065941
SMART Domains Protein: ENSMUSP00000064002
Gene: ENSMUSG00000053483

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:NAD_binding_8 7 74 1.3e-9 PFAM
Pfam:Amino_oxidase 12 471 1.7e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111305
SMART Domains Protein: ENSMUSP00000106936
Gene: ENSMUSG00000053483

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000106938
Gene: ENSMUSG00000053483

DomainStartEndE-ValueType
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: ENSMUST00000127101
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133050
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142656
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144393
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145019
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147176
Predicted Effect probably benign
Transcript: ENSMUST00000149187
SMART Domains Protein: ENSMUSP00000120161
Gene: ENSMUSG00000053483

DomainStartEndE-ValueType
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: ENSMUST00000151442
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152689
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153164
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155083
Predicted Effect probably benign
Transcript: ENSMUST00000174720
SMART Domains Protein: ENSMUSP00000133362
Gene: ENSMUSG00000053483

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik T A 4: 137,454,790 Y85* probably null Het
Abcg2 A G 6: 58,685,696 I508V probably benign Het
Adgrb2 T C 4: 130,019,282 probably null Het
Api5 T A 2: 94,429,839 H24L possibly damaging Het
Apoh T C 11: 108,412,142 V311A probably benign Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Brca2 G T 5: 150,560,790 V2994L possibly damaging Het
Brd1 A T 15: 88,700,877 V918D probably damaging Het
Calr3 T G 8: 72,443,460 D43A possibly damaging Het
Cdh16 T C 8: 104,622,105 probably null Het
Cep192 T C 18: 67,862,477 S2033P probably damaging Het
Dnah7a G A 1: 53,525,035 T1955M probably damaging Het
Dock10 T A 1: 80,574,123 Y665F probably damaging Het
Dync1i1 A G 6: 5,767,034 D86G probably benign Het
Eri2 T C 7: 119,786,108 D390G possibly damaging Het
Fank1 C T 7: 133,880,029 probably benign Het
Hoxb7 A T 11: 96,286,744 Y6F possibly damaging Het
Hspg2 A C 4: 137,551,848 S3081R possibly damaging Het
Kcnt1 T A 2: 25,900,880 probably benign Het
Kdelc2 A G 9: 53,384,251 D51G probably benign Het
Med13 A G 11: 86,283,386 I1762T probably benign Het
Mia2 A G 12: 59,108,836 D445G probably damaging Het
Olfr1099 T C 2: 86,959,353 Y35C probably damaging Het
Plcg2 A T 8: 117,603,883 I827F possibly damaging Het
Rnls C A 19: 33,138,284 probably benign Het
Scn1a A T 2: 66,299,618 probably null Het
Sec22b T A 3: 97,921,245 V208E possibly damaging Het
Slc8a3 A T 12: 81,315,094 I317N probably damaging Het
Snx33 A G 9: 56,926,759 Y9H probably damaging Het
Stard9 C A 2: 120,698,992 T1910N probably damaging Het
Tas2r122 T A 6: 132,711,790 I47F probably damaging Het
Tedc1 T G 12: 113,157,301 L118V possibly damaging Het
Tln2 A T 9: 67,255,996 S1090T probably benign Het
Tpcn2 T C 7: 145,258,574 D511G probably benign Het
Vmn2r17 T A 5: 109,453,080 L748Q probably damaging Het
Zp2 T C 7: 120,135,341 D495G possibly damaging Het
Other mutations in Usp21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01700:Usp21 APN 1 171283402 missense probably damaging 0.96
IGL01726:Usp21 APN 1 171284001 missense probably damaging 1.00
IGL01915:Usp21 APN 1 171282733 missense possibly damaging 0.92
IGL02504:Usp21 APN 1 171285023 missense probably benign 0.39
R0513:Usp21 UTSW 1 171283012 unclassified probably benign
R0513:Usp21 UTSW 1 171283014 unclassified probably benign
R0570:Usp21 UTSW 1 171283746 unclassified probably benign
R1582:Usp21 UTSW 1 171283081 missense probably damaging 1.00
R1700:Usp21 UTSW 1 171283722 missense probably damaging 1.00
R4061:Usp21 UTSW 1 171285401 unclassified probably benign
R4073:Usp21 UTSW 1 171282172 unclassified probably benign
R5914:Usp21 UTSW 1 171282171 unclassified probably benign
R6879:Usp21 UTSW 1 171282503 missense probably damaging 1.00
R7611:Usp21 UTSW 1 171285569 missense probably benign 0.00
R7857:Usp21 UTSW 1 171286762 missense probably benign 0.27
R7940:Usp21 UTSW 1 171286762 missense probably benign 0.27
Posted On2015-04-16