Incidental Mutation 'R0570:Usp48'
ID 46360
Institutional Source Beutler Lab
Gene Symbol Usp48
Ensembl Gene ENSMUSG00000043411
Gene Name ubiquitin specific peptidase 48
Synonyms Usp31, 2810449C13Rik, D330022K21Rik
MMRRC Submission 038761-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R0570 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 137321079-137385842 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 137360437 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 658 (I658K)
Ref Sequence ENSEMBL: ENSMUSP00000055016 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055131] [ENSMUST00000105840] [ENSMUST00000141628]
AlphaFold Q3V0C5
Predicted Effect possibly damaging
Transcript: ENSMUST00000055131
AA Change: I658K

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000055016
Gene: ENSMUSG00000043411
AA Change: I658K

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: ENSMUST00000105840
AA Change: I660K

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000101466
Gene: ENSMUSG00000043411
AA Change: I660K

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 unknown
Transcript: ENSMUST00000128065
AA Change: I77K
SMART Domains Protein: ENSMUSP00000115533
Gene: ENSMUSG00000043411
AA Change: I77K

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

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: ENSMUST00000154395
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152985
Meta Mutation Damage Score 0.2328 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.9%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 100% (85/85)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067K01Rik C A 8: 84,729,733 (GRCm39) probably benign Het
Aadacl3 C T 4: 144,190,130 (GRCm39) W57* probably null Het
Abca2 G T 2: 25,337,417 (GRCm39) probably null Het
Abca3 A G 17: 24,593,373 (GRCm39) I257V probably benign Het
Adamts2 A G 11: 50,666,963 (GRCm39) D420G probably damaging Het
Adamts5 A G 16: 85,696,135 (GRCm39) F341L probably damaging Het
Ahnak T A 19: 8,991,062 (GRCm39) D4115E probably damaging Het
Arhgap20 T C 9: 51,751,751 (GRCm39) S365P possibly damaging Het
Atrn G A 2: 130,822,054 (GRCm39) V916I probably benign Het
Blmh T C 11: 76,856,651 (GRCm39) V82A probably damaging Het
C1ra A T 6: 124,490,664 (GRCm39) Y19F probably benign Het
Cactin A G 10: 81,159,067 (GRCm39) E306G probably damaging Het
Celsr1 C T 15: 85,787,566 (GRCm39) R2724Q probably benign Het
Clca4b T C 3: 144,631,110 (GRCm39) E250G probably benign Het
Col17a1 A T 19: 47,654,317 (GRCm39) S647T possibly damaging Het
Cope T A 8: 70,759,181 (GRCm39) D74E probably damaging Het
Dsg1c T C 18: 20,403,435 (GRCm39) I198T probably damaging Het
Elfn2 T C 15: 78,557,434 (GRCm39) N371S probably damaging Het
Elmo2 G T 2: 165,146,839 (GRCm39) A246D probably benign Het
Ewsr1 A T 11: 5,035,935 (GRCm39) M187K possibly damaging Het
Faap100 A T 11: 120,265,114 (GRCm39) S587R possibly damaging Het
Fam234b C T 6: 135,186,247 (GRCm39) S85L probably benign Het
Fanca A T 8: 124,033,169 (GRCm39) S292R probably benign Het
Fanci G A 7: 79,093,711 (GRCm39) C1021Y probably damaging Het
Fhod3 T C 18: 25,245,640 (GRCm39) I1230T probably benign Het
Fmo5 T C 3: 97,536,456 (GRCm39) L27S probably damaging Het
Fmo9 A G 1: 166,502,031 (GRCm39) V147A probably null Het
Fnbp4 A G 2: 90,583,301 (GRCm39) Y309C probably damaging Het
Foxb1 T C 9: 69,666,844 (GRCm39) T229A probably benign Het
Gapvd1 A G 2: 34,618,552 (GRCm39) Y274H probably damaging Het
Gbp8 T C 5: 105,165,541 (GRCm39) probably null Het
Gcn1 T A 5: 115,730,480 (GRCm39) L888Q probably damaging Het
Gm17490 T C 2: 11,630,460 (GRCm39) probably benign Het
Gtf2ird2 T A 5: 134,237,785 (GRCm39) probably null Het
H2-Q1 A G 17: 35,540,373 (GRCm39) T153A possibly damaging Het
Ina A C 19: 47,011,938 (GRCm39) E452A probably benign Het
Kars1 A G 8: 112,721,494 (GRCm39) probably null Het
Kif1c A G 11: 70,595,291 (GRCm39) E124G probably damaging Het
Lpin3 T C 2: 160,745,944 (GRCm39) probably benign Het
Lrp1 A T 10: 127,390,878 (GRCm39) C3006* probably null Het
Lyst T C 13: 13,883,971 (GRCm39) L2953P probably benign Het
Mb21d2 G A 16: 28,748,324 (GRCm39) A31V probably benign Het
Melk T C 4: 44,308,906 (GRCm39) Y88H probably damaging Het
Myrf A G 19: 10,189,161 (GRCm39) S857P probably damaging Het
Nos2 A G 11: 78,826,187 (GRCm39) I153M possibly damaging Het
Or4n4 T G 14: 50,519,370 (GRCm39) L113F probably benign Het
Otof A G 5: 30,529,225 (GRCm39) probably benign Het
Patl2 A G 2: 121,955,789 (GRCm39) V249A probably damaging Het
Pcgf5 A G 19: 36,389,580 (GRCm39) Y19C probably benign Het
Pcnt A T 10: 76,247,941 (GRCm39) V951E probably damaging Het
Pcolce2 T C 9: 95,520,710 (GRCm39) V29A probably benign Het
Pdgfrb A T 18: 61,210,775 (GRCm39) M761L probably benign Het
Pi16 A T 17: 29,538,189 (GRCm39) M1L possibly damaging Het
Pkd2 T A 5: 104,603,471 (GRCm39) probably benign Het
Plcb2 A G 2: 118,547,806 (GRCm39) W474R probably benign Het
Psapl1 A G 5: 36,361,624 (GRCm39) D72G possibly damaging Het
Ptpn5 T A 7: 46,728,681 (GRCm39) probably benign Het
Ptprg A G 14: 12,215,896 (GRCm38) E1115G probably damaging Het
Rassf1 C T 9: 107,435,165 (GRCm39) T224I probably damaging Het
Rbpms2 T A 9: 65,566,476 (GRCm39) C168* probably null Het
Rhag A G 17: 41,139,804 (GRCm39) probably benign Het
Rhebl1 C T 15: 98,779,034 (GRCm39) V17I probably benign Het
Rnf130 A T 11: 49,986,703 (GRCm39) D349V possibly damaging Het
Rprd1a A G 18: 24,642,952 (GRCm39) L60P probably damaging Het
Rspry1 T C 8: 95,356,420 (GRCm39) I25T probably damaging Het
Ruvbl2 C T 7: 45,071,621 (GRCm39) V421M probably damaging Het
Sap30 T C 8: 57,936,000 (GRCm39) N209D possibly damaging Het
Sfswap T C 5: 129,581,042 (GRCm39) probably benign Het
Slc1a2 G A 2: 102,586,352 (GRCm39) V319M probably damaging Het
Smad2 T C 18: 76,422,250 (GRCm39) probably benign Het
Spdya T C 17: 71,869,585 (GRCm39) probably null Het
Stk39 G A 2: 68,240,392 (GRCm39) T113M probably damaging Het
Tanc1 A G 2: 59,626,382 (GRCm39) probably benign Het
Tas2r122 T C 6: 132,688,774 (GRCm39) K40E probably damaging Het
Tph2 G T 10: 115,010,039 (GRCm39) probably benign Het
Trip12 G A 1: 84,729,269 (GRCm39) S1083F probably damaging Het
Tsc2 A T 17: 24,845,701 (GRCm39) C206S probably damaging Het
Tsc22d4 A G 5: 137,760,681 (GRCm39) Q34R possibly damaging Het
Uroc1 G T 6: 90,315,546 (GRCm39) M142I possibly damaging Het
Uso1 T C 5: 92,347,682 (GRCm39) S766P probably benign Het
Usp21 G A 1: 171,111,319 (GRCm39) probably benign Het
Vmn1r206 T C 13: 22,804,583 (GRCm39) H208R probably damaging Het
Vmn2r109 C T 17: 20,760,937 (GRCm39) A807T probably damaging Het
Zfp329 A T 7: 12,544,379 (GRCm39) C382S probably damaging Het
Zfp341 A G 2: 154,487,988 (GRCm39) E817G probably benign 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
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
Predicted Primers PCR Primer
(F):5'- TAGGGTGGGTGGAACCTAACTACG -3'
(R):5'- GGCCAGTTACTGAGACATGGTCTG -3'

Sequencing Primer
(F):5'- gatgtagcctcagccacc -3'
(R):5'- GCTATCATCTTATGCAAGGCTTCG -3'
Posted On 2013-06-11