Incidental Mutation 'R9295:Usp48'
ID 704535
Institutional Source Beutler Lab
Gene Symbol Usp48
Ensembl Gene ENSMUSG00000043411
Gene Name ubiquitin specific peptidase 48
Synonyms Usp31, 2810449C13Rik, D330022K21Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R9295 (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: 98.7%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410002F23Rik T A 7: 43,900,116 (GRCm39) V7E probably benign Het
Adam17 A G 12: 21,399,938 (GRCm39) V156A probably benign Het
Ankrd6 A T 4: 32,822,160 (GRCm39) V236E probably damaging Het
Apcdd1 C T 18: 63,055,731 (GRCm39) probably benign Het
C2cd3 C A 7: 100,081,734 (GRCm39) D1125E Het
Cacna2d2 A G 9: 107,386,419 (GRCm39) E182G probably benign Het
Cct3 A G 3: 88,212,430 (GRCm39) K139E probably benign Het
Cd96 G T 16: 45,938,244 (GRCm39) Q74K probably benign Het
Cdk5rap1 A T 2: 154,194,186 (GRCm39) I373N probably damaging Het
Cep350 A T 1: 155,738,051 (GRCm39) Y2597* probably null Het
Chst13 G A 6: 90,286,506 (GRCm39) P152L probably damaging Het
Clcn1 G A 6: 42,290,883 (GRCm39) G919E probably benign Het
Col6a4 G A 9: 105,957,734 (GRCm39) A30V probably damaging Het
Copa T C 1: 171,939,823 (GRCm39) C655R probably damaging Het
Cpt1a T A 19: 3,428,441 (GRCm39) V605E probably damaging Het
Ddx46 T C 13: 55,811,599 (GRCm39) I600T possibly damaging Het
Dhx9 C A 1: 153,340,673 (GRCm39) V656L probably damaging Het
Dnhd1 T A 7: 105,363,348 (GRCm39) M3970K probably benign Het
Ercc5 G T 1: 44,198,017 (GRCm39) V145F probably damaging Het
Erv3 T C 2: 131,697,979 (GRCm39) T127A possibly damaging Het
Fcer1a T C 1: 173,050,174 (GRCm39) Y172C probably damaging Het
Gabra1 A G 11: 42,044,217 (GRCm39) M167T probably damaging Het
Ggt1 A G 10: 75,421,743 (GRCm39) H530R probably benign Het
Gli2 C A 1: 118,764,996 (GRCm39) V1052L probably damaging Het
Gm4491 A C 14: 57,351,140 (GRCm39) F84C unknown Het
Irf2bp1 C T 7: 18,739,740 (GRCm39) T460I probably benign Het
Klf3 A G 5: 64,980,240 (GRCm39) Y187C possibly damaging Het
Krt80 T C 15: 101,249,652 (GRCm39) E287G probably benign Het
Lama4 G T 10: 38,948,747 (GRCm39) V837F probably damaging Het
Lrig3 G T 10: 125,850,722 (GRCm39) C1096F probably benign Het
Mtrr T C 13: 68,719,258 (GRCm39) R328G possibly damaging Het
Nln TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC 13: 104,186,924 (GRCm39) probably null Het
Obsl1 A T 1: 75,476,721 (GRCm39) D744E probably damaging Het
Or2n1d A T 17: 38,646,320 (GRCm39) T91S possibly damaging Het
Or4x13 G A 2: 90,231,441 (GRCm39) M145I probably benign Het
Pde4b A G 4: 102,112,478 (GRCm39) T21A probably damaging Het
Phf20l1 G A 15: 66,513,752 (GRCm39) G1003D probably damaging Het
Phtf1 A G 3: 103,904,893 (GRCm39) T514A probably benign Het
Phykpl A G 11: 51,482,231 (GRCm39) E115G possibly damaging Het
Pramel20 A G 4: 143,298,704 (GRCm39) T216A possibly damaging Het
Pxmp2 C A 5: 110,433,944 (GRCm39) probably benign Het
Reln A G 5: 22,209,209 (GRCm39) L1123P possibly damaging Het
Rusc2 T C 4: 43,416,382 (GRCm39) S563P probably damaging Het
Secisbp2 T G 13: 51,808,483 (GRCm39) S83A probably damaging Het
Sema3c T A 5: 17,932,495 (GRCm39) M666K probably benign Het
Serbp1 G T 6: 67,248,208 (GRCm39) D114Y probably damaging Het
Sh3d21 T A 4: 126,045,276 (GRCm39) T468S possibly damaging Het
Shroom3 T A 5: 93,098,478 (GRCm39) D1319E probably benign Het
Skida1 T C 2: 18,051,386 (GRCm39) R502G unknown Het
Slc25a12 C A 2: 71,128,986 (GRCm39) G314C possibly damaging Het
Smg8 A G 11: 86,968,789 (GRCm39) V989A probably benign Het
Spon2 G A 5: 33,373,844 (GRCm39) P156S probably damaging Het
Stx1a A G 5: 135,066,370 (GRCm39) N50S probably benign Het
Tmem151b C A 17: 45,857,806 (GRCm39) V147L probably benign Het
Trim12c C T 7: 103,990,391 (GRCm39) G362D unknown Het
Tsr1 T C 11: 74,799,135 (GRCm39) V772A probably damaging Het
Tti2 A T 8: 31,643,550 (GRCm39) K222* probably null Het
Vmn1r60 A G 7: 5,547,218 (GRCm39) M294T probably null Het
Vmn2r6 T C 3: 64,463,484 (GRCm39) E450G probably benign Het
Vmn2r60 T A 7: 41,785,955 (GRCm39) F253I probably benign Het
Wnk4 A T 11: 101,160,078 (GRCm39) D649V probably damaging Het
Zfhx4 T C 3: 5,394,525 (GRCm39) S1040P probably benign Het
Zfp112 C T 7: 23,824,805 (GRCm39) R262C probably benign Het
Zfp287 T A 11: 62,606,115 (GRCm39) D264V probably benign Het
Zfp46 T C 4: 136,017,876 (GRCm39) C237R probably damaging Het
Zfp773 C T 7: 7,135,694 (GRCm39) E301K probably benign Het
Zswim2 A C 2: 83,748,304 (GRCm39) V292G 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
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'- CATCATCCTGGGTGGCTCTTTG -3'
(R):5'- CCTCAATCCCTAGCTGTAGC -3'

Sequencing Primer
(F):5'- AGTGGTGGGGGTGCAACC -3'
(R):5'- GCTGTAGCTTCTTGCCCTC -3'
Posted On 2022-03-25