Incidental Mutation 'R1689:Usp48'
ID 189560
Institutional Source Beutler Lab
Gene Symbol Usp48
Ensembl Gene ENSMUSG00000043411
Gene Name ubiquitin specific peptidase 48
Synonyms Usp31, 2810449C13Rik, D330022K21Rik
MMRRC Submission 039722-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R1689 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 137321079-137385842 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 137383418 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000055131] [ENSMUST00000105840] [ENSMUST00000105840] [ENSMUST00000141628]
AlphaFold Q3V0C5
Predicted Effect probably null
Transcript: ENSMUST00000055131
SMART Domains Protein: ENSMUSP00000055016
Gene: ENSMUSG00000043411

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 null
Transcript: ENSMUST00000105840
SMART Domains Protein: ENSMUSP00000101466
Gene: ENSMUSG00000043411

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 null
Transcript: ENSMUST00000105840
SMART Domains Protein: ENSMUSP00000101466
Gene: ENSMUSG00000043411

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 noncoding transcript
Transcript: ENSMUST00000125151
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 probably benign
Transcript: ENSMUST00000151807
SMART Domains Protein: ENSMUSP00000115526
Gene: ENSMUSG00000043411

DomainStartEndE-ValueType
UBQ 29 97 4.78e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152985
Predicted Effect probably null
Transcript: ENSMUST00000157012
SMART Domains Protein: ENSMUSP00000118081
Gene: ENSMUSG00000043411

DomainStartEndE-ValueType
Blast:UBQ 2 42 5e-22 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000157012
SMART Domains Protein: ENSMUSP00000118081
Gene: ENSMUSG00000043411

DomainStartEndE-ValueType
Blast:UBQ 2 42 5e-22 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000153869
SMART Domains Protein: ENSMUSP00000117989
Gene: ENSMUSG00000043411

DomainStartEndE-ValueType
UBQ 1 69 9.53e-2 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 T C 7: 45,769,827 (GRCm39) K896R probably benign Het
Adcy9 A T 16: 4,115,426 (GRCm39) probably null Het
Adgre1 T C 17: 57,756,921 (GRCm39) F726S probably benign Het
Ahctf1 A T 1: 179,595,948 (GRCm39) S148T probably damaging Het
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Ammecr1l C A 18: 31,913,741 (GRCm39) A289D probably benign Het
Amotl1 T C 9: 14,504,518 (GRCm39) Y230C probably damaging Het
Armc6 A T 8: 70,682,187 (GRCm39) S65R probably benign Het
Atad2b T A 12: 5,084,575 (GRCm39) Y1440* probably null Het
Atf6b T A 17: 34,869,276 (GRCm39) D164E probably damaging Het
B4galt6 C T 18: 20,839,553 (GRCm39) S127N probably benign Het
Bcl11a A T 11: 24,113,167 (GRCm39) Y170F probably damaging Het
Bcl11a A T 11: 24,114,406 (GRCm39) D583V possibly damaging Het
Btnl1 T A 17: 34,600,182 (GRCm39) Y228* probably null Het
Cav2 A G 6: 17,281,421 (GRCm39) H21R probably benign Het
Celsr2 T A 3: 108,314,620 (GRCm39) D1135V possibly damaging Het
Cntnap1 A C 11: 101,079,699 (GRCm39) probably null Het
Cysltr2 T C 14: 73,267,470 (GRCm39) D80G possibly damaging Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Dgkh A T 14: 78,855,984 (GRCm39) M363K possibly damaging Het
Eml5 C T 12: 98,797,194 (GRCm39) V1112M probably damaging Het
Entpd7 A G 19: 43,713,915 (GRCm39) T425A probably damaging Het
Ephx2 T A 14: 66,324,475 (GRCm39) K373* probably null Het
F5 G C 1: 164,026,486 (GRCm39) R1686P probably damaging Het
Fbxw10 A T 11: 62,750,862 (GRCm39) I482L probably damaging Het
Fbxw8 T C 5: 118,215,682 (GRCm39) S443G probably damaging Het
Fdft1 T C 14: 63,394,138 (GRCm39) E191G probably benign Het
Fgd2 A G 17: 29,582,696 (GRCm39) E26G probably benign Het
Gabra4 T C 5: 71,790,885 (GRCm39) probably null Het
Gc A G 5: 89,589,059 (GRCm39) probably null Het
Heatr1 T A 13: 12,439,506 (GRCm39) D1361E probably benign Het
Hid1 A G 11: 115,251,183 (GRCm39) F118L probably damaging Het
Igsf8 G T 1: 172,146,504 (GRCm39) G564W probably damaging Het
Il12rb2 A G 6: 67,313,744 (GRCm39) V4A probably benign Het
Irak3 T C 10: 119,982,457 (GRCm39) E335G probably damaging Het
Itgb8 T G 12: 119,134,555 (GRCm39) Q504P probably benign Het
Kbtbd12 A T 6: 88,595,567 (GRCm39) Y88N probably damaging Het
Klk1b5 T C 7: 43,869,969 (GRCm39) I226T probably damaging Het
L3hypdh A T 12: 72,131,527 (GRCm39) I135N probably damaging Het
Lrp2 G T 2: 69,333,873 (GRCm39) T1456K probably benign Het
Mrgprd C A 7: 144,875,454 (GRCm39) Y108* probably null Het
Muc6 C T 7: 141,234,265 (GRCm39) G742D probably damaging Het
Nalcn T A 14: 123,522,666 (GRCm39) I1572F probably damaging Het
Nceh1 A G 3: 27,280,231 (GRCm39) Y126C probably damaging Het
Or14j1 T C 17: 38,146,495 (GRCm39) S202P possibly damaging Het
Or1ak2 A G 2: 36,827,989 (GRCm39) N286S probably damaging Het
Or7d11 A T 9: 19,966,422 (GRCm39) N112K possibly damaging Het
Pacs1 G T 19: 5,322,643 (GRCm39) probably benign Het
Pappa2 A G 1: 158,784,968 (GRCm39) L14P probably damaging Het
Pdlim2 C T 14: 70,408,688 (GRCm39) G176D probably damaging Het
Pramel17 T A 4: 101,694,376 (GRCm39) K169I possibly damaging Het
Ptpra T C 2: 130,345,412 (GRCm39) F5L probably benign Het
Qrfprl A G 6: 65,358,591 (GRCm39) N105S possibly damaging Het
Ralgapa1 A G 12: 55,723,552 (GRCm39) L2114P possibly damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Senp2 T A 16: 21,845,416 (GRCm39) Y217N probably damaging Het
Sned1 C T 1: 93,211,094 (GRCm39) R1061C probably damaging Het
Spag16 C T 1: 70,500,277 (GRCm39) T535I probably benign Het
Supt20 T A 3: 54,619,583 (GRCm39) L355* probably null Het
Tmem132b A G 5: 125,864,678 (GRCm39) H928R possibly damaging Het
Tpo A T 12: 30,148,245 (GRCm39) L552H probably damaging Het
Tsfm A T 10: 126,864,324 (GRCm39) N130K probably damaging Het
Vsig10 A G 5: 117,490,825 (GRCm39) D544G probably benign Het
Vsig10l C T 7: 43,114,792 (GRCm39) T433I possibly damaging Het
Wdr81 A G 11: 75,336,422 (GRCm39) F1655L probably damaging Het
Wfdc3 T A 2: 164,576,111 (GRCm39) D60V probably damaging 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
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
Posted On 2014-05-14