Incidental Mutation 'R1725:Usp48'
ID 198057
Institutional Source Beutler Lab
Gene Symbol Usp48
Ensembl Gene ENSMUSG00000043411
Gene Name ubiquitin specific peptidase 48
Synonyms Usp31, 2810449C13Rik, D330022K21Rik
MMRRC Submission 039757-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R1725 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 137321079-137385842 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 137360733 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 20 (L20*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055131] [ENSMUST00000105840] [ENSMUST00000141628]
AlphaFold Q3V0C5
Predicted Effect probably null
Transcript: ENSMUST00000055131
AA Change: L722*
SMART Domains Protein: ENSMUSP00000055016
Gene: ENSMUSG00000043411
AA Change: L722*

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 null
Transcript: ENSMUST00000105840
AA Change: L724*
SMART Domains Protein: ENSMUSP00000101466
Gene: ENSMUSG00000043411
AA Change: L724*

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 probably null
Transcript: ENSMUST00000128065
AA Change: L141*
SMART Domains Protein: ENSMUSP00000115533
Gene: ENSMUSG00000043411
AA Change: L141*

DomainStartEndE-ValueType
Blast:DUSP 9 111 2e-13 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000131755
Predicted Effect probably null
Transcript: ENSMUST00000141426
AA Change: L20*
SMART Domains Protein: ENSMUSP00000118084
Gene: ENSMUSG00000043411
AA Change: L20*

DomainStartEndE-ValueType
UBQ 63 131 4.78e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000141628
SMART Domains Protein: ENSMUSP00000119691
Gene: ENSMUSG00000043411

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
UBQ 185 253 4.78e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152985
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154395
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.5%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310079G19Rik A T 16: 88,424,163 (GRCm39) F109L probably benign Het
Aacs T C 5: 125,559,999 (GRCm39) probably null Het
Abcc6 C A 7: 45,641,781 (GRCm39) D866Y possibly damaging Het
Acox3 T C 5: 35,749,516 (GRCm39) Y214H probably benign Het
Acss2 A G 2: 155,398,764 (GRCm39) T404A possibly damaging Het
Adgrb3 T A 1: 25,865,381 (GRCm39) E154V probably damaging Het
Akap12 G A 10: 4,303,942 (GRCm39) V251M probably damaging Het
Ambp A T 4: 63,062,513 (GRCm39) M242K possibly damaging Het
Angptl7 T G 4: 148,584,469 (GRCm39) Y93S probably damaging Het
Apof A G 10: 128,105,680 (GRCm39) probably benign Het
Arv1 T C 8: 125,455,191 (GRCm39) F135L probably damaging Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Cacna1s C T 1: 136,026,361 (GRCm39) T1116I probably damaging Het
Ccdc91 A G 6: 147,493,541 (GRCm39) E311G unknown Het
Cenpf T C 1: 189,412,676 (GRCm39) T196A probably damaging Het
Chd8 A T 14: 52,470,030 (GRCm39) S527T probably benign Het
Csmd3 A C 15: 47,460,203 (GRCm39) N3529K probably damaging Het
Csnk2a1 T C 2: 152,099,892 (GRCm39) V116A probably damaging Het
Dhx36 T G 3: 62,414,360 (GRCm39) M1L probably benign Het
Diaph3 A G 14: 87,203,759 (GRCm39) probably null Het
Ephb2 G A 4: 136,387,089 (GRCm39) Q714* probably null Het
Eprs1 T A 1: 185,139,189 (GRCm39) L858Q probably damaging Het
Espl1 G T 15: 102,221,656 (GRCm39) V982L probably benign Het
Eya2 A G 2: 165,566,605 (GRCm39) T219A probably benign Het
Fam83f T G 15: 80,576,468 (GRCm39) V373G possibly damaging Het
Fbxl18 C T 5: 142,872,458 (GRCm39) R259H probably damaging Het
Gcc2 G A 10: 58,139,937 (GRCm39) R1629H possibly damaging Het
Gje1 G A 10: 14,592,168 (GRCm39) R205* probably null Het
Gm10277 TC T 11: 77,676,828 (GRCm39) probably null Het
Kmt2d T C 15: 98,743,115 (GRCm39) probably benign Het
Krt6a A T 15: 101,600,992 (GRCm39) M268K probably damaging Het
Loxhd1 T A 18: 77,380,937 (GRCm39) S85T probably benign Het
Loxl3 G A 6: 83,012,574 (GRCm39) V38I probably benign Het
Mill2 A G 7: 18,573,993 (GRCm39) D26G probably benign Het
Muc15 T C 2: 110,561,591 (GRCm39) L9S probably damaging Het
Nat8f4 G A 6: 85,878,080 (GRCm39) R148* probably null Het
Nav3 A T 10: 109,659,451 (GRCm39) V722E probably damaging Het
Nfkb1 C A 3: 135,373,519 (GRCm39) G10W probably damaging Het
Or10j5 C T 1: 172,784,908 (GRCm39) P182L possibly damaging Het
Or2ag1 A T 7: 106,313,265 (GRCm39) F208I probably benign Het
Or2t1 T G 14: 14,328,977 (GRCm38) Y289D probably damaging Het
Or5b120 T C 19: 13,479,883 (GRCm39) Y59H probably damaging Het
Pcdhb22 T A 18: 37,653,241 (GRCm39) C313S probably benign Het
Plin4 A G 17: 56,413,473 (GRCm39) L384P probably damaging Het
Pm20d1 T C 1: 131,743,796 (GRCm39) I487T probably damaging Het
Prex1 A T 2: 166,443,656 (GRCm39) D334E probably damaging Het
Psg28 A T 7: 18,161,936 (GRCm39) I189N possibly damaging Het
Ptk2 A G 15: 73,114,255 (GRCm39) V701A possibly damaging Het
Rae1 A G 2: 172,848,754 (GRCm39) I123M possibly damaging Het
Sh3glb2 C A 2: 30,240,679 (GRCm39) E129* probably null Het
Simc1 T C 13: 54,674,219 (GRCm39) S856P probably damaging Het
Slc19a1 T A 10: 76,877,672 (GRCm39) M69K probably benign Het
Slc30a8 A T 15: 52,197,000 (GRCm39) I304F possibly damaging Het
Snx1 A G 9: 66,005,611 (GRCm39) probably null Het
Spmip5 T G 19: 58,781,194 (GRCm39) K10T probably benign Het
Stx18 G A 5: 38,292,599 (GRCm39) V234M probably damaging Het
Sulf2 T C 2: 165,923,281 (GRCm39) T615A probably damaging Het
Sult3a2 T A 10: 33,655,705 (GRCm39) K91N probably benign Het
Tet1 A G 10: 62,650,256 (GRCm39) S22P probably damaging Het
Tmc3 T C 7: 83,253,940 (GRCm39) V362A probably damaging Het
Trim16 A C 11: 62,711,331 (GRCm39) M1L possibly damaging Het
Trp53bp1 C T 2: 121,082,481 (GRCm39) V10I possibly damaging Het
Ttc12 T G 9: 49,369,415 (GRCm39) D235A probably benign Het
Ttn T C 2: 76,692,727 (GRCm39) R452G possibly damaging Het
Ugt2b38 A T 5: 87,559,730 (GRCm39) H387Q probably damaging Het
Utrn T C 10: 12,539,263 (GRCm39) D1918G probably damaging Het
Vmn1r158 A G 7: 22,490,072 (GRCm39) S46P probably benign Het
Vmn2r97 T A 17: 19,149,397 (GRCm39) W262R probably benign Het
Vps13d A T 4: 144,869,830 (GRCm39) S1917T possibly damaging Het
Vsx1 T C 2: 150,528,120 (GRCm39) N158D probably benign Het
Vwf G A 6: 125,623,245 (GRCm39) V1781I probably benign Het
Wrap73 T C 4: 154,233,209 (GRCm39) Y128H possibly damaging Het
Zfp472 A G 17: 33,196,311 (GRCm39) K129E possibly damaging Het
Zscan18 A T 7: 12,504,784 (GRCm39) L611Q probably 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
IGL02386:Usp48 APN 4 137,331,834 (GRCm39) missense possibly damaging 0.93
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 4 137,371,774 (GRCm39) missense probably damaging 1.00
R1367:Usp48 UTSW 4 137,366,606 (GRCm39) missense possibly damaging 0.90
R1689:Usp48 UTSW 4 137,383,418 (GRCm39) splice site 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
Predicted Primers PCR Primer
(F):5'- CCAAGTTACAGAGAGTGCTGCTCG -3'
(R):5'- AGAATGTTAGCTTCAAGCCACTCCC -3'

Sequencing Primer
(F):5'- CAAGGTGCGTAGCTCTAATGTC -3'
(R):5'- ccacccacaccacccag -3'
Posted On 2014-05-23