Incidental Mutation 'R9627:Usp48'
ID 725206
Institutional Source Beutler Lab
Gene Symbol Usp48
Ensembl Gene ENSMUSG00000043411
Gene Name ubiquitin specific peptidase 48
Synonyms Usp31, 2810449C13Rik, D330022K21Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R9627 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 137321079-137385842 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 137340996 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 332 (G332E)
Ref Sequence ENSEMBL: ENSMUSP00000055016 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055131] [ENSMUST00000105837] [ENSMUST00000105838] [ENSMUST00000105839] [ENSMUST00000105840]
AlphaFold Q3V0C5
Predicted Effect probably benign
Transcript: ENSMUST00000055131
AA Change: G332E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000055016
Gene: ENSMUSG00000043411
AA Change: G332E

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: G332E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000101465
Gene: ENSMUSG00000043411
AA Change: G332E

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: G332E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000101466
Gene: ENSMUSG00000043411
AA Change: G332E

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
Meta Mutation Damage Score 0.0678 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A T 2: 68,487,834 (GRCm39) probably benign Het
Abca14 T C 7: 119,854,530 (GRCm39) V898A probably benign Het
Adamtsl1 A T 4: 86,306,762 (GRCm39) D1400V possibly damaging Het
Akap6 T A 12: 53,151,413 (GRCm39) M1159K Het
Atg13 C A 2: 91,509,098 (GRCm39) G446* probably null Het
Atp6v1g2 G T 17: 35,454,956 (GRCm39) probably null Het
Bmp2k C T 5: 97,201,028 (GRCm39) A316V possibly damaging Het
Ccdc34 AAGA AA 2: 109,871,010 (GRCm39) probably null Het
Cfap251 A G 5: 123,460,557 (GRCm39) D1173G probably benign Het
Cln6 T A 9: 62,754,303 (GRCm39) I115N probably damaging Het
Cma1 T C 14: 56,181,289 (GRCm39) T39A probably benign Het
Cpsf1 A T 15: 76,484,088 (GRCm39) M744K probably damaging Het
Csf1r A G 18: 61,260,972 (GRCm39) Y721C probably damaging Het
Dcaf12 A G 4: 41,293,976 (GRCm39) L387P probably benign Het
Ephb1 T C 9: 101,918,468 (GRCm39) E347G possibly damaging Het
Fig4 T A 10: 41,108,178 (GRCm39) H674L probably benign Het
Foxa3 T A 7: 18,748,458 (GRCm39) K223* probably null Het
Gimap7 T C 6: 48,700,600 (GRCm39) V62A probably damaging Het
Glrx3 T A 7: 137,046,755 (GRCm39) V49E probably benign Het
Greb1 T C 12: 16,756,167 (GRCm39) Y823C probably damaging Het
H3c7 G T 13: 23,728,793 (GRCm39) V47L possibly damaging Het
Hapln4 C A 8: 70,539,520 (GRCm39) R184S possibly damaging Het
Hmcn1 C T 1: 150,506,054 (GRCm39) C3824Y probably damaging Het
Hrnr T C 3: 93,233,235 (GRCm39) S1158P unknown Het
Itln1 A G 1: 171,360,985 (GRCm39) S36P probably benign Het
Kcnh5 A C 12: 75,160,990 (GRCm39) I306S probably damaging Het
Kctd19 T A 8: 106,113,997 (GRCm39) M559L probably benign Het
Kif2a A G 13: 107,158,558 (GRCm39) I9T possibly damaging Het
Klra5 G A 6: 129,883,701 (GRCm39) T142I probably benign Het
Ldlrad3 A G 2: 101,785,423 (GRCm39) V184A probably damaging Het
Lrrc27 T C 7: 138,808,582 (GRCm39) probably benign Het
Mark1 A G 1: 184,646,817 (GRCm39) V340A probably benign Het
Mrps31 T C 8: 22,901,558 (GRCm39) V26A probably benign Het
Mtrr G A 13: 68,725,756 (GRCm39) L118F probably damaging Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Nbas G T 12: 13,350,203 (GRCm39) V285F possibly damaging Het
Nfrkb T C 9: 31,321,189 (GRCm39) L675P possibly damaging Het
Or10v9 T A 19: 11,832,910 (GRCm39) I136F possibly damaging Het
Or1q1 T A 2: 36,887,665 (GRCm39) V281E Het
Or5k15 T A 16: 58,709,771 (GRCm39) I271L probably benign Het
Phkg1 C T 5: 129,893,376 (GRCm39) W358* probably null Het
Plekhj1 A C 10: 80,633,494 (GRCm39) I51S possibly damaging Het
Plxnd1 C T 6: 115,940,274 (GRCm39) R1370Q possibly damaging Het
Prkg2 T C 5: 99,079,869 (GRCm39) *763W probably null Het
Rhobtb2 A G 14: 70,034,349 (GRCm39) F292S probably damaging Het
Rlf A T 4: 121,007,002 (GRCm39) C769* probably null Het
Rmi1 C A 13: 58,557,366 (GRCm39) D538E possibly damaging Het
Scn4a C T 11: 106,212,839 (GRCm39) V1389I probably benign Het
Serpinc1 A T 1: 160,821,101 (GRCm39) K183* probably null Het
Setd4 A T 16: 93,380,562 (GRCm39) M399K possibly damaging Het
Setx T C 2: 29,034,661 (GRCm39) M382T probably damaging Het
Slc6a9 A G 4: 117,721,210 (GRCm39) Y208C probably damaging Het
Slfn2 A T 11: 82,960,367 (GRCm39) K115N Het
Snrk A T 9: 121,966,427 (GRCm39) K117* probably null Het
Spata31 A G 13: 65,065,409 (GRCm39) Y38C possibly damaging Het
Stab2 T C 10: 86,793,704 (GRCm39) T464A probably damaging Het
Tagap1 C T 17: 7,224,327 (GRCm39) G123D probably benign Het
Tas2r136 T C 6: 132,754,948 (GRCm39) K60E possibly damaging Het
Tasor T C 14: 27,194,123 (GRCm39) S1108P probably benign Het
Tmem200b A C 4: 131,649,437 (GRCm39) Y119S probably damaging Het
Wwp2 T G 8: 108,278,959 (GRCm39) L578W probably damaging Het
Zfp53 T A 17: 21,728,745 (GRCm39) C259* probably null 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
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
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'- TAAACATCATCCTGGGTGGC -3'
(R):5'- CCTCAATCCCTAGCTGTAGC -3'

Sequencing Primer
(F):5'- ACATCATCCTGGGTGGCTCTTTG -3'
(R):5'- GCTGTAGCTTCTTGCCCTC -3'
Posted On 2022-09-12