Incidental Mutation 'R9520:Usp48'
ID 718806
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 # R9520 (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: 99.7%
  • 20x: 99.1%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T C 5: 124,228,176 (GRCm39) T22A possibly damaging Het
Ackr3 T A 1: 90,141,971 (GRCm39) Y143* probably null Het
Actn1 A T 12: 80,240,417 (GRCm39) D223E probably damaging Het
Apcdd1 C T 18: 63,083,190 (GRCm39) T340I possibly damaging Het
B4galnt1 G A 10: 127,006,580 (GRCm39) E375K probably damaging Het
Cacna1b A T 2: 24,651,799 (GRCm39) S127T probably damaging Het
Cbr3 A G 16: 93,487,318 (GRCm39) D167G probably benign Het
Cdcp1 A T 9: 123,012,736 (GRCm39) N270K possibly damaging Het
Cep131 A G 11: 119,968,157 (GRCm39) V128A probably benign Het
Cfhr4 A G 1: 139,682,135 (GRCm39) S154P probably damaging Het
Chek1 T C 9: 36,625,121 (GRCm39) E320G probably benign Het
Cit T A 5: 116,079,954 (GRCm39) L755* probably null Het
Clstn2 A T 9: 97,414,763 (GRCm39) L377Q probably damaging Het
Cpne9 A T 6: 113,281,413 (GRCm39) D498V probably damaging Het
Csad A G 15: 102,097,102 (GRCm39) M1T probably null Het
Csmd3 A G 15: 47,561,608 (GRCm39) F1323L Het
Dennd2c A T 3: 103,044,484 (GRCm39) Q355L probably benign Het
Fbxw10 G A 11: 62,750,842 (GRCm39) S475N possibly damaging Het
Foxi3 A G 6: 70,937,676 (GRCm39) S303G probably damaging Het
Glra1 G C 11: 55,405,897 (GRCm39) F372L probably benign Het
Gm19410 A G 8: 36,262,637 (GRCm39) E858G probably benign Het
Gm7168 T A 17: 14,169,506 (GRCm39) V291D probably benign Het
Gpr15lg T A 14: 36,829,343 (GRCm39) T47S possibly damaging Het
Grin2b T C 6: 135,710,399 (GRCm39) Y1049C probably damaging Het
Grm2 A G 9: 106,525,230 (GRCm39) L24P Het
Guca1a T A 17: 47,711,335 (GRCm39) I4F probably benign Het
H6pd T C 4: 150,080,375 (GRCm39) I157V possibly damaging Het
Hectd3 T A 4: 116,857,882 (GRCm39) M605K probably damaging Het
Hsf2 T A 10: 57,371,996 (GRCm39) N32K probably damaging Het
Hspa1l T A 17: 35,196,972 (GRCm39) V337D probably damaging Het
Iigp1 A T 18: 60,523,451 (GRCm39) T190S probably benign Het
Iqgap1 T C 7: 80,393,869 (GRCm39) R622G probably benign Het
Lce1a1 A T 3: 92,554,109 (GRCm39) C122S unknown Het
Lrfn4 C T 19: 4,664,237 (GRCm39) R99H probably damaging Het
Lsm1 T A 8: 26,283,744 (GRCm39) V52E possibly damaging Het
Malrd1 G A 2: 16,079,631 (GRCm39) V1783I unknown Het
Mast4 T C 13: 102,925,532 (GRCm39) K464R probably damaging Het
Mpdz T C 4: 81,304,555 (GRCm39) D115G probably benign Het
Mtmr3 A T 11: 4,441,131 (GRCm39) H507Q probably damaging Het
Mycbp2 T A 14: 103,497,705 (GRCm39) M956L probably benign Het
Myo3b A G 2: 70,062,753 (GRCm39) T346A possibly damaging Het
Ndrg2 T C 14: 52,146,381 (GRCm39) I140V probably benign Het
Nsf A G 11: 103,804,709 (GRCm39) L144P probably damaging Het
Or2a25 T C 6: 42,889,051 (GRCm39) V198A probably damaging Het
Or8d2b C T 9: 38,789,039 (GRCm39) T189I probably benign Het
Pck1 G A 2: 172,997,854 (GRCm39) V308M probably damaging Het
Phip C T 9: 82,753,437 (GRCm39) R1769K possibly damaging Het
Plekhg1 T A 10: 3,906,822 (GRCm39) C635S Het
Ppp4r4 A G 12: 103,500,378 (GRCm39) I58V probably benign Het
Prkacb T C 3: 146,456,289 (GRCm39) Y170C probably damaging Het
Rnf145 A T 11: 44,452,336 (GRCm39) E438D possibly damaging Het
Rnf207 T C 4: 152,396,234 (GRCm39) Y510C probably damaging Het
Rph3a C T 5: 121,101,903 (GRCm39) C111Y probably damaging Het
Scaf8 C T 17: 3,248,285 (GRCm39) R1203W probably damaging Het
Sec23a T G 12: 59,031,974 (GRCm39) I448L probably benign Het
Slc22a27 T C 19: 7,843,227 (GRCm39) Y492C possibly damaging Het
Supv3l1 T C 10: 62,268,181 (GRCm39) K555E probably damaging Het
Tdrd3 T C 14: 87,724,696 (GRCm39) S372P probably damaging Het
Tgm1 A G 14: 55,942,296 (GRCm39) F685S probably damaging Het
Vmn2r11 T C 5: 109,201,455 (GRCm39) T350A probably benign Het
Vmn2r25 A T 6: 123,830,066 (GRCm39) Y28* probably null Het
Vmn2r85 T A 10: 130,254,993 (GRCm39) I564L probably benign Het
Wdr26 G T 1: 181,036,587 (GRCm39) T183K probably benign Het
Yjefn3 A T 8: 70,341,969 (GRCm39) Y97N probably damaging Het
Zbtb38 A T 9: 96,568,104 (GRCm39) D993E probably damaging Het
Zbtb45 T C 7: 12,742,012 (GRCm39) Q82R probably damaging Het
Zdhhc8 A G 16: 18,045,044 (GRCm39) V254A probably benign Het
Zfp648 A G 1: 154,081,221 (GRCm39) D460G probably benign Het
Zfp760 T G 17: 21,941,036 (GRCm39) N70K 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
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
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'- CATCATCCTGGGTGGCTCTTTG -3'
(R):5'- CCTCAATCCCTAGCTGTAGC -3'

Sequencing Primer
(F):5'- AGTGGTGGGGGTGCAACC -3'
(R):5'- GCTGTAGCTTCTTGCCCTC -3'
Posted On 2022-07-18