Incidental Mutation 'IGL02386:Usp48'
ID 291545
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp48
Ensembl Gene ENSMUSG00000043411
Gene Name ubiquitin specific peptidase 48
Synonyms Usp31, 2810449C13Rik, D330022K21Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # IGL02386
Quality Score
Status
Chromosome 4
Chromosomal Location 137321079-137385842 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 137331834 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 73 (R73S)
Ref Sequence ENSEMBL: ENSMUSP00000123154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055131] [ENSMUST00000105838] [ENSMUST00000105839] [ENSMUST00000105840] [ENSMUST00000153100]
AlphaFold Q3V0C5
Predicted Effect possibly damaging
Transcript: ENSMUST00000055131
AA Change: R45S

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000055016
Gene: ENSMUSG00000043411
AA Change: R45S

DomainStartEndE-ValueType
Pfam:UCH 88 417 6.9e-44 PFAM
Pfam:UCH_1 89 374 1e-22 PFAM
Blast:DUSP 479 555 5e-39 BLAST
coiled coil region 622 643 N/A INTRINSIC
UBQ 954 1022 4.78e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105838
SMART Domains Protein: ENSMUSP00000101464
Gene: ENSMUSG00000043411

DomainStartEndE-ValueType
Blast:DUSP 1 30 3e-11 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000105839
AA Change: R45S

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101465
Gene: ENSMUSG00000043411
AA Change: R45S

DomainStartEndE-ValueType
Pfam:UCH 88 418 3.2e-47 PFAM
Pfam:UCH_1 89 374 1.1e-25 PFAM
Blast:DUSP 480 556 5e-40 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000105840
AA Change: R45S

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101466
Gene: ENSMUSG00000043411
AA Change: R45S

DomainStartEndE-ValueType
Pfam:UCH 88 418 6.4e-49 PFAM
Pfam:UCH_1 89 374 1.8e-27 PFAM
Blast:DUSP 480 556 4e-39 BLAST
coiled coil region 624 645 N/A INTRINSIC
Blast:DUSP 743 824 2e-7 BLAST
UBQ 938 1006 4.78e-1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000153100
AA Change: R73S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000123154
Gene: ENSMUSG00000043411
AA Change: R73S

DomainStartEndE-ValueType
Blast:IG_like 74 129 7e-34 BLAST
PDB:4M5X|B 111 158 1e-7 PDB
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 protein containing domains that associate it with the peptidase family C19, also known as family 2 of ubiquitin carboxyl-terminal hydrolases. Family members function as deubiquitinating enzymes, recognizing and hydrolyzing the peptide bond at the C-terminal glycine of ubiquitin. Enzymes in peptidase family C19 are involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930555F03Rik G A 8: 49,953,472 (GRCm39) noncoding transcript Het
Abhd17b T C 19: 21,658,263 (GRCm39) Y167H possibly damaging Het
Ablim1 T C 19: 57,123,086 (GRCm39) D167G probably damaging Het
Bpnt1 G T 1: 185,070,372 (GRCm39) K21N probably damaging Het
Cables2 A G 2: 179,903,431 (GRCm39) V251A probably benign Het
Cyp2b13 T C 7: 25,785,438 (GRCm39) L269P probably damaging Het
Dhodh A G 8: 110,321,396 (GRCm39) I330T probably damaging Het
Dnah5 T A 15: 28,340,527 (GRCm39) D2311E probably damaging Het
Dph1 T C 11: 75,074,428 (GRCm39) D128G probably benign Het
Dsg1c T A 18: 20,410,056 (GRCm39) I508N probably benign Het
Eftud2 T C 11: 102,742,580 (GRCm39) probably null Het
Fstl4 T A 11: 52,664,698 (GRCm39) H9Q probably benign Het
Glra3 A T 8: 56,542,063 (GRCm39) M269L probably benign Het
Gpatch8 C A 11: 102,398,983 (GRCm39) R83L unknown Het
Gss A G 2: 155,415,090 (GRCm39) V205A probably benign Het
Ifi30 A G 8: 71,217,405 (GRCm39) probably benign Het
Itch T A 2: 155,044,181 (GRCm39) Y495* probably null Het
Lilrb4a C T 10: 51,367,322 (GRCm39) Q22* probably null Het
Mest T C 6: 30,744,913 (GRCm39) F201S possibly damaging Het
Myh8 T A 11: 67,185,266 (GRCm39) I839N probably damaging Het
Myo7a C T 7: 97,724,319 (GRCm39) G1122E probably damaging Het
Ntan1 T A 16: 13,653,063 (GRCm39) M273K probably benign Het
Numa1 A G 7: 101,656,739 (GRCm39) K1548R probably benign Het
Obsl1 A G 1: 75,469,161 (GRCm39) V1260A probably damaging Het
Or4b12 T A 2: 90,096,295 (GRCm39) I160F probably damaging Het
Or4c10 T C 2: 89,760,888 (GRCm39) V245A probably damaging Het
Pde10a A G 17: 9,172,636 (GRCm39) S669G possibly damaging Het
Ppargc1b T C 18: 61,456,222 (GRCm39) D79G probably damaging Het
Rnf103 A G 6: 71,486,202 (GRCm39) T278A probably benign Het
Slc22a4 C A 11: 53,879,598 (GRCm39) probably benign Het
Snx25 A T 8: 46,494,386 (GRCm39) M833K possibly damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Susd2 A T 10: 75,475,929 (GRCm39) Y357N probably damaging Het
Syne4 C A 7: 30,015,659 (GRCm39) S91Y possibly damaging Het
Tgfbrap1 C A 1: 43,114,981 (GRCm39) G40C probably damaging Het
Tial1 A G 7: 128,050,069 (GRCm39) S94P probably damaging Het
Tle3 A G 9: 61,301,941 (GRCm39) T117A possibly damaging Het
Utrn G T 10: 12,297,352 (GRCm39) D685E possibly damaging Het
Other mutations in Usp48
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01691:Usp48 APN 4 137,350,583 (GRCm39) critical splice acceptor site probably null
IGL01864:Usp48 APN 4 137,366,538 (GRCm39) missense possibly damaging 0.87
IGL03112:Usp48 APN 4 137,335,375 (GRCm39) missense probably damaging 1.00
IGL03114:Usp48 APN 4 137,383,436 (GRCm39) missense probably damaging 1.00
IGL03406:Usp48 APN 4 137,366,606 (GRCm39) missense possibly damaging 0.90
balfour UTSW 4 137,360,766 (GRCm39) missense probably benign 0.00
burlap UTSW 4 137,352,587 (GRCm39) missense possibly damaging 0.77
fulfillment UTSW 4 137,365,544 (GRCm39) missense probably damaging 1.00
hayao UTSW 4 137,360,750 (GRCm39) nonsense probably null
Mei UTSW 4 137,334,004 (GRCm39) nonsense probably null
miyazaki UTSW 4 137,335,465 (GRCm39) missense probably damaging 1.00
promise UTSW 4 137,362,232 (GRCm39) missense probably damaging 1.00
satsuki UTSW 4 137,360,437 (GRCm39) missense possibly damaging 0.93
Totoro UTSW 4 137,321,794 (GRCm39) missense probably damaging 0.99
IGL02796:Usp48 UTSW 4 137,338,029 (GRCm39) missense probably damaging 1.00
R0050:Usp48 UTSW 4 137,341,114 (GRCm39) missense probably damaging 1.00
R0333:Usp48 UTSW 4 137,321,794 (GRCm39) missense probably damaging 0.99
R0382:Usp48 UTSW 4 137,348,529 (GRCm39) missense probably benign 0.00
R0423:Usp48 UTSW 4 137,343,722 (GRCm39) missense probably benign
R0570:Usp48 UTSW 4 137,360,437 (GRCm39) missense possibly damaging 0.93
R0855:Usp48 UTSW 4 137,335,465 (GRCm39) missense probably damaging 1.00
R0943:Usp48 UTSW 4 137,371,781 (GRCm39) missense possibly damaging 0.92
R1367:Usp48 UTSW 4 137,366,606 (GRCm39) missense possibly damaging 0.90
R1367:Usp48 UTSW 4 137,371,774 (GRCm39) missense probably damaging 1.00
R1689:Usp48 UTSW 4 137,383,418 (GRCm39) splice site probably null
R1725:Usp48 UTSW 4 137,360,733 (GRCm39) nonsense probably null
R2520:Usp48 UTSW 4 137,352,562 (GRCm39) missense probably benign 0.05
R2965:Usp48 UTSW 4 137,341,073 (GRCm39) missense probably damaging 1.00
R2966:Usp48 UTSW 4 137,341,073 (GRCm39) missense probably damaging 1.00
R3026:Usp48 UTSW 4 137,321,755 (GRCm39) missense probably benign 0.06
R3963:Usp48 UTSW 4 137,360,750 (GRCm39) nonsense probably null
R4087:Usp48 UTSW 4 137,350,651 (GRCm39) missense possibly damaging 0.95
R4633:Usp48 UTSW 4 137,362,211 (GRCm39) missense probably damaging 0.96
R4677:Usp48 UTSW 4 137,343,692 (GRCm39) missense probably benign 0.16
R4735:Usp48 UTSW 4 137,360,680 (GRCm39) nonsense probably null
R4932:Usp48 UTSW 4 137,343,145 (GRCm39) splice site probably null
R4932:Usp48 UTSW 4 137,343,144 (GRCm39) missense probably benign 0.00
R4935:Usp48 UTSW 4 137,377,669 (GRCm39) missense probably benign 0.42
R4952:Usp48 UTSW 4 137,334,004 (GRCm39) nonsense probably null
R5034:Usp48 UTSW 4 137,334,068 (GRCm39) nonsense probably null
R5153:Usp48 UTSW 4 137,343,673 (GRCm39) missense possibly damaging 0.68
R5443:Usp48 UTSW 4 137,348,532 (GRCm39) missense possibly damaging 0.78
R5591:Usp48 UTSW 4 137,379,963 (GRCm39) intron probably benign
R5825:Usp48 UTSW 4 137,350,689 (GRCm39) missense probably benign
R5889:Usp48 UTSW 4 137,343,723 (GRCm39) missense probably benign
R5955:Usp48 UTSW 4 137,343,129 (GRCm39) missense probably benign
R6089:Usp48 UTSW 4 137,333,129 (GRCm39) missense probably damaging 1.00
R6443:Usp48 UTSW 4 137,341,074 (GRCm39) missense probably damaging 1.00
R6473:Usp48 UTSW 4 137,336,419 (GRCm39) critical splice donor site probably null
R6482:Usp48 UTSW 4 137,362,232 (GRCm39) missense probably damaging 1.00
R6859:Usp48 UTSW 4 137,352,587 (GRCm39) missense possibly damaging 0.77
R6916:Usp48 UTSW 4 137,365,544 (GRCm39) missense probably damaging 1.00
R6977:Usp48 UTSW 4 137,377,671 (GRCm39) missense probably damaging 1.00
R7749:Usp48 UTSW 4 137,377,728 (GRCm39) missense probably damaging 1.00
R7759:Usp48 UTSW 4 137,321,763 (GRCm39) missense probably benign 0.25
R7767:Usp48 UTSW 4 137,331,956 (GRCm39) critical splice donor site probably null
R7850:Usp48 UTSW 4 137,333,060 (GRCm39) splice site probably null
R7881:Usp48 UTSW 4 137,360,766 (GRCm39) missense probably benign 0.00
R7897:Usp48 UTSW 4 137,371,739 (GRCm39) missense probably damaging 0.96
R8186:Usp48 UTSW 4 137,348,507 (GRCm39) missense possibly damaging 0.83
R8198:Usp48 UTSW 4 137,348,470 (GRCm39) unclassified probably benign
R8353:Usp48 UTSW 4 137,350,693 (GRCm39) missense probably benign 0.00
R8466:Usp48 UTSW 4 137,350,630 (GRCm39) missense probably null 1.00
R8506:Usp48 UTSW 4 137,338,029 (GRCm39) missense probably damaging 1.00
R8821:Usp48 UTSW 4 137,341,080 (GRCm39) missense probably damaging 1.00
R8831:Usp48 UTSW 4 137,341,080 (GRCm39) missense probably damaging 1.00
R8911:Usp48 UTSW 4 137,340,996 (GRCm39) missense probably benign 0.00
R9043:Usp48 UTSW 4 137,340,996 (GRCm39) missense probably benign 0.00
R9044:Usp48 UTSW 4 137,340,996 (GRCm39) missense probably benign 0.00
R9289:Usp48 UTSW 4 137,340,996 (GRCm39) missense probably benign 0.00
R9295:Usp48 UTSW 4 137,340,996 (GRCm39) missense probably benign 0.00
R9296:Usp48 UTSW 4 137,340,996 (GRCm39) missense probably benign 0.00
R9297:Usp48 UTSW 4 137,340,996 (GRCm39) missense probably benign 0.00
R9317:Usp48 UTSW 4 137,340,996 (GRCm39) missense probably benign 0.00
R9460:Usp48 UTSW 4 137,340,996 (GRCm39) missense probably benign 0.00
R9480:Usp48 UTSW 4 137,340,996 (GRCm39) missense probably benign 0.00
R9481:Usp48 UTSW 4 137,340,996 (GRCm39) missense probably benign 0.00
R9520:Usp48 UTSW 4 137,340,996 (GRCm39) missense probably benign 0.00
R9521:Usp48 UTSW 4 137,340,996 (GRCm39) missense probably benign 0.00
R9522:Usp48 UTSW 4 137,340,996 (GRCm39) missense probably benign 0.00
R9627:Usp48 UTSW 4 137,340,996 (GRCm39) missense probably benign 0.00
R9698:Usp48 UTSW 4 137,361,202 (GRCm39) missense possibly damaging 0.94
R9752:Usp48 UTSW 4 137,341,137 (GRCm39) missense probably damaging 1.00
R9784:Usp48 UTSW 4 137,321,812 (GRCm39) missense probably benign 0.06
RF002:Usp48 UTSW 4 137,333,106 (GRCm39) missense probably damaging 1.00
Z1176:Usp48 UTSW 4 137,331,948 (GRCm39) frame shift probably null
Posted On 2015-04-16