Incidental Mutation 'RF002:Usp48'
ID 602552
Institutional Source Beutler Lab
Gene Symbol Usp48
Ensembl Gene ENSMUSG00000043411
Gene Name ubiquitin specific peptidase 48
Synonyms Usp31, D330022K21Rik, 2810449C13Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.950) question?
Stock # RF002 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 137593755-137658537 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 137605795 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 100 (V100D)
Ref Sequence ENSEMBL: ENSMUSP00000055016 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055131] [ENSMUST00000105838] [ENSMUST00000105839] [ENSMUST00000105840] [ENSMUST00000153100]
AlphaFold Q3V0C5
Predicted Effect probably damaging
Transcript: ENSMUST00000055131
AA Change: V100D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055016
Gene: ENSMUSG00000043411
AA Change: V100D

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 probably damaging
Transcript: ENSMUST00000105839
AA Change: V100D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101465
Gene: ENSMUSG00000043411
AA Change: V100D

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 damaging
Transcript: ENSMUST00000105840
AA Change: V100D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101466
Gene: ENSMUSG00000043411
AA Change: V100D

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 damaging
Transcript: ENSMUST00000153100
AA Change: V128D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123154
Gene: ENSMUSG00000043411
AA Change: V128D

DomainStartEndE-ValueType
Blast:IG_like 74 129 7e-34 BLAST
PDB:4M5X|B 111 158 1e-7 PDB
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.7%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI837181 GGC GGCTGC 19: 5,425,235 (GRCm38) probably benign Het
AI837181 CGG CGGTGG 19: 5,425,234 (GRCm38) probably benign Het
Angptl1 A T 1: 156,857,224 (GRCm38) Q321L possibly damaging Het
AY358078 T TAGGATAATGC 14: 51,805,593 (GRCm38) probably null Het
Blm CCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTGCTCCTCCTCCTCCTCCTCCTCCT 7: 80,512,905 (GRCm38) probably benign Het
Blm CTC CTCATCCTCCTCATC 7: 80,512,927 (GRCm38) probably benign Het
Car13 T C 3: 14,654,914 (GRCm38) Y129H probably damaging Het
Cd109 TATTTAT TATTTATTTATTCATTTAT 9: 78,712,528 (GRCm38) probably benign Het
Cd109 TTATTTATTTAT TTATTTATTTATGTATTTATTTAT 9: 78,712,523 (GRCm38) probably benign Het
Cdh26 T C 2: 178,466,631 (GRCm38) C341R probably damaging Het
Chga GCA GCACCA 12: 102,561,421 (GRCm38) probably benign Het
Col11a1 A T 3: 114,217,001 (GRCm38) I1689L unknown Het
Dnah6 T G 6: 73,101,889 (GRCm38) S2364R probably benign Het
E4f1 CCG CCGACG 17: 24,455,186 (GRCm38) probably benign Het
Fah A C 7: 84,589,628 (GRCm38) N336K probably damaging Het
Fbxo11 A T 17: 87,996,053 (GRCm38) I664K Het
Fcgbp A G 7: 28,089,755 (GRCm38) D582G probably benign Het
Gabre C CCGGCTA X: 72,270,057 (GRCm38) probably null Het
Garin5a CCTGGGTCTGAGGGAGGA CCTGGGTCTGAGGGAGGAAGGCTGGATCCTGGATAACTGGGTCTGAGGGAGGA 7: 44,500,520 (GRCm38) probably null Het
Gm1110 A G 9: 26,920,640 (GRCm38) Y72H probably damaging Het
Inpp5e C T 2: 26,408,377 (GRCm38) A71T possibly damaging Het
Iqcm C T 8: 75,577,899 (GRCm38) T96I probably benign Het
Lce1m TGCCACCGCTGC TGCCACCGCTGCCGCCACCGCTGC 3: 93,018,283 (GRCm38) probably benign Het
Lce1m AC ACCGCCGCTGCCCC 3: 93,018,299 (GRCm38) probably benign Het
Lrch1 TTGGTGGTGCTGGTGG TTGGTGG 14: 74,947,574 (GRCm38) probably benign Het
Lyst A G 13: 13,634,363 (GRCm38) D206G probably benign Het
Map4k5 A T 12: 69,856,856 (GRCm38) D58E probably damaging Het
Mapkapk2 A G 1: 131,056,513 (GRCm38) S251P probably damaging Het
Mcph1 CCTG CCTGCTG 8: 18,652,529 (GRCm38) probably benign Het
Men1 T C 19: 6,340,116 (GRCm38) S600P probably damaging Het
Mllt1 C T 17: 56,896,300 (GRCm38) V394M probably benign Het
Mllt1 C A 17: 56,896,301 (GRCm38) M393I possibly damaging Het
Nacc1 T C 8: 84,676,219 (GRCm38) E315G possibly damaging Het
Nefh GGGGACTTGGCCTC GGGGACTTGGCCTCACCTAGGGACTTGGCCTC 11: 4,941,047 (GRCm38) probably benign Het
Nefh GACTTGGCCTC GACTTGGCCTCACCTGGGGACTTGGCCTC 11: 4,941,050 (GRCm38) probably benign Het
Nid2 TAACACCGCCA TA 14: 19,751,366 (GRCm38) probably benign Het
Or5b122 T A 19: 13,586,051 (GRCm38) I206N probably damaging Het
Parp2 A G 14: 50,817,386 (GRCm38) E262G probably damaging Het
Pdik1l TTT TTTGTTTTTGTGTT 4: 134,279,375 (GRCm38) probably null Het
Pop1 G A 15: 34,502,437 (GRCm38) G90D probably damaging Het
Ppp3cc T C 14: 70,267,339 (GRCm38) T73A possibly damaging Het
Prdm15 C T 16: 97,799,629 (GRCm38) D810N probably damaging Het
Prpf4b T A 13: 34,884,236 (GRCm38) S349R unknown Het
Rassf6 GTAGAGCAATGGGGATTC GTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCTTTAGAGCAATGGGGATTC 5: 90,608,925 (GRCm38) probably null Het
Rassf6 TCCTGTAGAGCAATGGGGATTC TCCTGTAGAGCAATGGGGATTCTGCCTCACTCATGGGCCTGTAGAGCAATGGGGATTC 5: 90,608,921 (GRCm38) probably benign Het
Sdk2 T C 11: 113,885,252 (GRCm38) E208G probably benign Het
Smurf2 G T 11: 106,852,587 (GRCm38) P211Q probably benign Het
Snx25 C A 8: 46,116,181 (GRCm38) probably null Het
Spata6 T A 4: 111,828,305 (GRCm38) M469K probably benign Het
Spta1 G T 1: 174,231,360 (GRCm38) A1954S possibly damaging Het
Sry CTGGTCGTGGAACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGGTGGTGGTCATGGAACTGCTG CTGGTCATGGAACTGCTG Y: 2,662,564 (GRCm38) probably benign Het
Stard8 GAG GAGTAG X: 99,066,515 (GRCm38) probably null Het
Tfeb AGC AGCGGC 17: 47,786,102 (GRCm38) probably benign Het
Tlcd1 T A 11: 78,180,194 (GRCm38) L203Q probably benign Het
Tlr11 T C 14: 50,361,225 (GRCm38) F223L possibly damaging Het
Vinac1 A G 2: 129,038,794 (GRCm38) F404S Het
Vmn2r56 G A 7: 12,694,830 (GRCm38) T503I probably benign Het
Vps18 T C 2: 119,297,390 (GRCm38) L898P probably damaging Het
Zfp384 GCCCAGGCCCAGGCCCAGGCCCAG GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG 6: 125,036,471 (GRCm38) probably benign Het
Zfp706 T A 15: 37,003,705 (GRCm38) Y39F probably benign Het
Zhx3 T A 2: 160,781,806 (GRCm38) N147I probably damaging Het
Other mutations in Usp48
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01691:Usp48 APN 4 137,623,272 (GRCm38) critical splice acceptor site probably null
IGL01864:Usp48 APN 4 137,639,227 (GRCm38) missense possibly damaging 0.87
IGL02386:Usp48 APN 4 137,604,523 (GRCm38) missense possibly damaging 0.93
IGL03112:Usp48 APN 4 137,608,064 (GRCm38) missense probably damaging 1.00
IGL03114:Usp48 APN 4 137,656,125 (GRCm38) missense probably damaging 1.00
IGL03406:Usp48 APN 4 137,639,295 (GRCm38) missense possibly damaging 0.90
balfour UTSW 4 137,633,455 (GRCm38) missense probably benign 0.00
burlap UTSW 4 137,625,276 (GRCm38) missense possibly damaging 0.77
fulfillment UTSW 4 137,638,233 (GRCm38) missense probably damaging 1.00
hayao UTSW 4 137,633,439 (GRCm38) nonsense probably null
Mei UTSW 4 137,606,693 (GRCm38) nonsense probably null
miyazaki UTSW 4 137,608,154 (GRCm38) missense probably damaging 1.00
promise UTSW 4 137,634,921 (GRCm38) missense probably damaging 1.00
satsuki UTSW 4 137,633,126 (GRCm38) missense possibly damaging 0.93
Totoro UTSW 4 137,594,483 (GRCm38) missense probably damaging 0.99
IGL02796:Usp48 UTSW 4 137,610,718 (GRCm38) missense probably damaging 1.00
R0050:Usp48 UTSW 4 137,613,803 (GRCm38) missense probably damaging 1.00
R0333:Usp48 UTSW 4 137,594,483 (GRCm38) missense probably damaging 0.99
R0382:Usp48 UTSW 4 137,621,218 (GRCm38) missense probably benign 0.00
R0423:Usp48 UTSW 4 137,616,411 (GRCm38) missense probably benign
R0570:Usp48 UTSW 4 137,633,126 (GRCm38) missense possibly damaging 0.93
R0855:Usp48 UTSW 4 137,608,154 (GRCm38) missense probably damaging 1.00
R0943:Usp48 UTSW 4 137,644,470 (GRCm38) missense possibly damaging 0.92
R1367:Usp48 UTSW 4 137,644,463 (GRCm38) missense probably damaging 1.00
R1367:Usp48 UTSW 4 137,639,295 (GRCm38) missense possibly damaging 0.90
R1689:Usp48 UTSW 4 137,656,107 (GRCm38) splice site probably null
R1725:Usp48 UTSW 4 137,633,422 (GRCm38) nonsense probably null
R2520:Usp48 UTSW 4 137,625,251 (GRCm38) missense probably benign 0.05
R2965:Usp48 UTSW 4 137,613,762 (GRCm38) missense probably damaging 1.00
R2966:Usp48 UTSW 4 137,613,762 (GRCm38) missense probably damaging 1.00
R3026:Usp48 UTSW 4 137,594,444 (GRCm38) missense probably benign 0.06
R3963:Usp48 UTSW 4 137,633,439 (GRCm38) nonsense probably null
R4087:Usp48 UTSW 4 137,623,340 (GRCm38) missense possibly damaging 0.95
R4633:Usp48 UTSW 4 137,634,900 (GRCm38) missense probably damaging 0.96
R4677:Usp48 UTSW 4 137,616,381 (GRCm38) missense probably benign 0.16
R4735:Usp48 UTSW 4 137,633,369 (GRCm38) nonsense probably null
R4932:Usp48 UTSW 4 137,615,834 (GRCm38) splice site probably null
R4932:Usp48 UTSW 4 137,615,833 (GRCm38) missense probably benign 0.00
R4935:Usp48 UTSW 4 137,650,358 (GRCm38) missense probably benign 0.42
R4952:Usp48 UTSW 4 137,606,693 (GRCm38) nonsense probably null
R5034:Usp48 UTSW 4 137,606,757 (GRCm38) nonsense probably null
R5153:Usp48 UTSW 4 137,616,362 (GRCm38) missense possibly damaging 0.68
R5443:Usp48 UTSW 4 137,621,221 (GRCm38) missense possibly damaging 0.78
R5591:Usp48 UTSW 4 137,652,652 (GRCm38) intron probably benign
R5825:Usp48 UTSW 4 137,623,378 (GRCm38) missense probably benign
R5889:Usp48 UTSW 4 137,616,412 (GRCm38) missense probably benign
R5955:Usp48 UTSW 4 137,615,818 (GRCm38) missense probably benign
R6089:Usp48 UTSW 4 137,605,818 (GRCm38) missense probably damaging 1.00
R6443:Usp48 UTSW 4 137,613,763 (GRCm38) missense probably damaging 1.00
R6473:Usp48 UTSW 4 137,609,108 (GRCm38) critical splice donor site probably null
R6482:Usp48 UTSW 4 137,634,921 (GRCm38) missense probably damaging 1.00
R6859:Usp48 UTSW 4 137,625,276 (GRCm38) missense possibly damaging 0.77
R6916:Usp48 UTSW 4 137,638,233 (GRCm38) missense probably damaging 1.00
R6977:Usp48 UTSW 4 137,650,360 (GRCm38) missense probably damaging 1.00
R7749:Usp48 UTSW 4 137,650,417 (GRCm38) missense probably damaging 1.00
R7759:Usp48 UTSW 4 137,594,452 (GRCm38) missense probably benign 0.25
R7767:Usp48 UTSW 4 137,604,645 (GRCm38) critical splice donor site probably null
R7850:Usp48 UTSW 4 137,605,749 (GRCm38) splice site probably null
R7881:Usp48 UTSW 4 137,633,455 (GRCm38) missense probably benign 0.00
R7897:Usp48 UTSW 4 137,644,428 (GRCm38) missense probably damaging 0.96
R8186:Usp48 UTSW 4 137,621,196 (GRCm38) missense possibly damaging 0.83
R8198:Usp48 UTSW 4 137,621,159 (GRCm38) unclassified probably benign
R8353:Usp48 UTSW 4 137,623,382 (GRCm38) missense probably benign 0.00
R8466:Usp48 UTSW 4 137,623,319 (GRCm38) missense probably null 1.00
R8506:Usp48 UTSW 4 137,610,718 (GRCm38) missense probably damaging 1.00
R8821:Usp48 UTSW 4 137,613,769 (GRCm38) missense probably damaging 1.00
R8831:Usp48 UTSW 4 137,613,769 (GRCm38) missense probably damaging 1.00
R8911:Usp48 UTSW 4 137,613,685 (GRCm38) missense probably benign 0.00
R9043:Usp48 UTSW 4 137,613,685 (GRCm38) missense probably benign 0.00
R9044:Usp48 UTSW 4 137,613,685 (GRCm38) missense probably benign 0.00
R9289:Usp48 UTSW 4 137,613,685 (GRCm38) missense probably benign 0.00
R9295:Usp48 UTSW 4 137,613,685 (GRCm38) missense probably benign 0.00
R9296:Usp48 UTSW 4 137,613,685 (GRCm38) missense probably benign 0.00
R9297:Usp48 UTSW 4 137,613,685 (GRCm38) missense probably benign 0.00
R9317:Usp48 UTSW 4 137,613,685 (GRCm38) missense probably benign 0.00
R9460:Usp48 UTSW 4 137,613,685 (GRCm38) missense probably benign 0.00
R9480:Usp48 UTSW 4 137,613,685 (GRCm38) missense probably benign 0.00
R9481:Usp48 UTSW 4 137,613,685 (GRCm38) missense probably benign 0.00
R9520:Usp48 UTSW 4 137,613,685 (GRCm38) missense probably benign 0.00
R9521:Usp48 UTSW 4 137,613,685 (GRCm38) missense probably benign 0.00
R9522:Usp48 UTSW 4 137,613,685 (GRCm38) missense probably benign 0.00
R9627:Usp48 UTSW 4 137,613,685 (GRCm38) missense probably benign 0.00
R9698:Usp48 UTSW 4 137,633,891 (GRCm38) missense possibly damaging 0.94
R9752:Usp48 UTSW 4 137,613,826 (GRCm38) missense probably damaging 1.00
R9784:Usp48 UTSW 4 137,594,501 (GRCm38) missense probably benign 0.06
Z1176:Usp48 UTSW 4 137,604,637 (GRCm38) frame shift probably null
Predicted Primers PCR Primer
(F):5'- TGGTGGTCAAACAGAAGGCC -3'
(R):5'- CATAAGAGAACTGGCTGGCAAC -3'

Sequencing Primer
(F):5'- GAAGGCCTCTATGAAAGTTCTGCC -3'
(R):5'- TGGCAACCCCCTCAGGAG -3'
Posted On 2019-12-04