Incidental Mutation 'R5153:Usp48'
ID 395504
Institutional Source Beutler Lab
Gene Symbol Usp48
Ensembl Gene ENSMUSG00000043411
Gene Name ubiquitin specific peptidase 48
Synonyms Usp31, 2810449C13Rik, D330022K21Rik
MMRRC Submission 042735-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R5153 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 137321079-137385842 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 137343673 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 434 (F434L)
Ref Sequence ENSEMBL: ENSMUSP00000055016 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055131] [ENSMUST00000105837] [ENSMUST00000105838] [ENSMUST00000105839] [ENSMUST00000105840]
AlphaFold Q3V0C5
Predicted Effect possibly damaging
Transcript: ENSMUST00000055131
AA Change: F434L

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000055016
Gene: ENSMUSG00000043411
AA Change: F434L

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: ENSMUST00000105837
SMART Domains Protein: ENSMUSP00000101463
Gene: ENSMUSG00000043411

DomainStartEndE-ValueType
Blast:DUSP 1 30 3e-11 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000105838
SMART Domains Protein: ENSMUSP00000101464
Gene: ENSMUSG00000043411

DomainStartEndE-ValueType
Blast:DUSP 1 30 3e-11 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000105839
AA Change: F435L

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000101465
Gene: ENSMUSG00000043411
AA Change: F435L

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 probably benign
Transcript: ENSMUST00000105840
AA Change: F435L

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000101466
Gene: ENSMUSG00000043411
AA Change: F435L

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 noncoding transcript
Transcript: ENSMUST00000138599
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154395
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik A T 11: 99,728,073 (GRCm39) C257S unknown Het
4930596D02Rik C A 14: 35,532,212 (GRCm39) R121L probably benign Het
Aadacl4fm1 T A 4: 144,248,837 (GRCm39) M68K probably benign Het
Acin1 A G 14: 54,883,070 (GRCm39) V194A probably benign Het
Acsm1 T C 7: 119,239,950 (GRCm39) I298T possibly damaging Het
Aoc1 A G 6: 48,885,681 (GRCm39) N729D probably benign Het
Apobr C T 7: 126,186,904 (GRCm39) T20I possibly damaging Het
Arsb A G 13: 94,077,106 (GRCm39) E491G probably benign Het
AW209491 C G 13: 14,811,764 (GRCm39) Q206E probably benign Het
Camsap1 A T 2: 25,823,630 (GRCm39) N1473K probably damaging Het
Casp8 A G 1: 58,884,004 (GRCm39) Q457R probably benign Het
Ccdc154 G A 17: 25,387,315 (GRCm39) A350T probably damaging Het
Cecr2 A G 6: 120,711,521 (GRCm39) E183G probably benign Het
Cep295 A T 9: 15,268,925 (GRCm39) S39T probably benign Het
Cep350 A T 1: 155,811,692 (GRCm39) I416K probably damaging Het
Cidea C T 18: 67,500,490 (GRCm39) T184M probably damaging Het
Cnot10 G A 9: 114,442,803 (GRCm39) A468V probably damaging Het
Cstdc1 A G 2: 148,625,360 (GRCm39) Q98R probably benign Het
Defb22 A T 2: 152,327,722 (GRCm39) N154K unknown Het
Dnah17 A T 11: 117,973,800 (GRCm39) C1915* probably null Het
Dnah2 T C 11: 69,411,759 (GRCm39) T288A possibly damaging Het
Dop1b T A 16: 93,570,891 (GRCm39) M1512K probably damaging Het
Dsp T G 13: 38,366,282 (GRCm39) I572S probably damaging Het
Eepd1 A G 9: 25,498,049 (GRCm39) H378R probably benign Het
Elapor1 A T 3: 108,380,063 (GRCm39) Y349N possibly damaging Het
Emilin2 A G 17: 71,580,497 (GRCm39) M743T possibly damaging Het
Ext1 C A 15: 52,939,213 (GRCm39) W612L probably damaging Het
F2rl2 A G 13: 95,833,620 (GRCm39) T17A probably benign Het
Fbxl8 T G 8: 105,993,739 (GRCm39) C32G probably damaging Het
Fbxw17 A G 13: 50,573,897 (GRCm39) T38A probably damaging Het
Flii A T 11: 60,607,512 (GRCm39) L882Q possibly damaging Het
Focad T G 4: 88,278,121 (GRCm39) S1197A unknown Het
H1f11-ps A G 19: 47,159,356 (GRCm39) V73A probably damaging Het
Heatr5b G A 17: 79,102,536 (GRCm39) R1281* probably null Het
Khdc3 A G 9: 73,010,720 (GRCm39) Q190R probably benign Het
Krt9 T A 11: 100,082,068 (GRCm39) D244V probably damaging Het
Ldhd T C 8: 112,353,724 (GRCm39) E463G probably benign Het
Lig4 A T 8: 10,023,003 (GRCm39) V259E possibly damaging Het
Luc7l3 A T 11: 94,186,806 (GRCm39) probably benign Het
Man1a2 T C 3: 100,563,579 (GRCm39) E22G probably damaging Het
Mmp23 T G 4: 155,735,797 (GRCm39) D258A probably damaging Het
Msantd2 C T 9: 37,434,509 (GRCm39) R250* probably null Het
Mynn T C 3: 30,665,738 (GRCm39) S457P probably benign Het
Nectin1 C T 9: 43,714,795 (GRCm39) H50Y probably damaging Het
Or10a3b T C 7: 108,444,906 (GRCm39) I104V probably benign Het
Or2d3c C T 7: 106,525,776 (GRCm39) V297M possibly damaging Het
Or4a47 G A 2: 89,665,578 (GRCm39) T237I possibly damaging Het
Or6c6c A G 10: 129,541,026 (GRCm39) N93S probably benign Het
Pfkfb2 G A 1: 130,629,527 (GRCm39) T303M probably damaging Het
Pkhd1l1 A G 15: 44,368,705 (GRCm39) D841G probably benign Het
Plxna4 A T 6: 32,201,094 (GRCm39) probably null Het
Podnl1 C T 8: 84,857,272 (GRCm39) H294Y probably benign Het
Ppig T A 2: 69,579,994 (GRCm39) D509E unknown Het
Ppp1r16a T A 15: 76,578,596 (GRCm39) Y433* probably null Het
Prdm1 A C 10: 44,326,221 (GRCm39) V134G possibly damaging Het
Prx T C 7: 27,217,901 (GRCm39) S940P probably damaging Het
Ptprd C T 4: 75,930,339 (GRCm39) V731I probably damaging Het
Qki A G 17: 10,457,820 (GRCm39) probably null Het
Rassf6 T C 5: 90,754,699 (GRCm39) K206R possibly damaging Het
Rdh16f2 G A 10: 127,712,124 (GRCm39) E194K possibly damaging Het
Rims1 C A 1: 22,522,328 (GRCm39) G457* probably null Het
Ripk1 T G 13: 34,197,279 (GRCm39) I123R probably damaging Het
Rnf111 A T 9: 70,383,422 (GRCm39) S170R probably benign Het
Shc3 A T 13: 51,615,413 (GRCm39) F181L probably damaging Het
Siglec1 A C 2: 130,927,497 (GRCm39) V103G probably damaging Het
Slc26a11 G T 11: 119,268,085 (GRCm39) A488S possibly damaging Het
Smoc2 A T 17: 14,556,841 (GRCm39) T97S probably damaging Het
Son T C 16: 91,451,910 (GRCm39) I219T possibly damaging Het
Sptbn1 A T 11: 30,071,510 (GRCm39) I1474N possibly damaging Het
Syt16 A T 12: 74,269,542 (GRCm39) D127V possibly damaging Het
Tet1 G T 10: 62,714,357 (GRCm39) N479K possibly damaging Het
Thsd7a G A 6: 12,338,654 (GRCm39) A1192V probably benign Het
Tmed3 G A 9: 89,581,825 (GRCm39) R213* probably null Het
Traj57 A G 14: 54,396,016 (GRCm39) probably benign Het
Trpv1 G T 11: 73,129,342 (GRCm39) R86S probably benign Het
Vmn2r59 A C 7: 41,691,834 (GRCm39) probably null Het
Vmn2r71 T A 7: 85,268,430 (GRCm39) I211N possibly damaging Het
Vps13b T A 15: 35,422,599 (GRCm39) D186E probably damaging Het
Vps33a A G 5: 123,696,691 (GRCm39) S321P probably damaging Het
Wdr12 A T 1: 60,133,670 (GRCm39) D19E probably benign Het
Zc3h12c A G 9: 52,037,947 (GRCm39) F278L probably damaging Het
Zpld1 T C 16: 55,067,007 (GRCm39) T183A probably damaging Het
Zswim2 G T 2: 83,770,010 (GRCm39) T68K 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
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
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
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'- GGCGGTCCCATTTGTTAGAG -3'
(R):5'- ATAGTGTCGTCCTGGAATATCTCAC -3'

Sequencing Primer
(F):5'- CGGTCCCATTTGTTAGAGCCATTTG -3'
(R):5'- GTCGTCCTGGAATATCTCACAGACC -3'
Posted On 2016-06-21