Incidental Mutation 'R4633:Usp48'
ID 397134
Institutional Source Beutler Lab
Gene Symbol Usp48
Ensembl Gene ENSMUSG00000043411
Gene Name ubiquitin specific peptidase 48
Synonyms Usp31, 2810449C13Rik, D330022K21Rik
MMRRC Submission 041898-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R4633 (G1)
Quality Score 184
Status Validated
Chromosome 4
Chromosomal Location 137321079-137385842 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 137362211 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 32 (K32R)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055131] [ENSMUST00000105840] [ENSMUST00000141628]
AlphaFold Q3V0C5
Predicted Effect probably benign
Transcript: ENSMUST00000055131
AA Change: K758R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000055016
Gene: ENSMUSG00000043411
AA Change: K758R

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: ENSMUST00000105840
AA Change: K760R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101466
Gene: ENSMUSG00000043411
AA Change: K760R

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 benign
Transcript: ENSMUST00000128065
SMART Domains Protein: ENSMUSP00000115533
Gene: ENSMUSG00000043411

DomainStartEndE-ValueType
Blast:DUSP 9 111 2e-13 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000131755
AA Change: K32R

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000141426
SMART Domains Protein: ENSMUSP00000118084
Gene: ENSMUSG00000043411

DomainStartEndE-ValueType
UBQ 63 131 4.78e-1 SMART
Predicted Effect unknown
Transcript: ENSMUST00000141628
AA Change: S9G
SMART Domains Protein: ENSMUSP00000119691
Gene: ENSMUSG00000043411
AA Change: S9G

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
UBQ 185 253 4.78e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152985
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154395
Meta Mutation Damage Score 0.0790 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 95% (73/77)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,606,503 (GRCm39) L786Q probably null Het
Abcb6 A T 1: 75,154,426 (GRCm39) probably benign Het
Alg10b T C 15: 90,112,497 (GRCm39) V447A probably benign Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
B4galt7 A G 13: 55,756,563 (GRCm39) H203R probably damaging Het
Cd44 T G 2: 102,683,392 (GRCm39) D214A possibly damaging Het
Ces1c T C 8: 93,845,014 (GRCm39) D275G probably benign Het
Cnot11 G T 1: 39,575,299 (GRCm39) W127L probably benign Het
Csmd1 A G 8: 16,052,620 (GRCm39) I2168T probably damaging Het
Cyp3a59 T C 5: 146,031,248 (GRCm39) F137S probably damaging Het
Dst T A 1: 34,209,515 (GRCm39) L1234Q probably damaging Het
Erbb2 T A 11: 98,323,814 (GRCm39) I676N possibly damaging Het
Erlin1 G A 19: 44,029,204 (GRCm39) R243C probably damaging Het
Fanci T C 7: 79,076,990 (GRCm39) L576P probably damaging Het
Fzd1 A T 5: 4,805,865 (GRCm39) Y572* probably null Het
Glg1 C T 8: 111,904,276 (GRCm39) probably null Het
Gpr139 A T 7: 118,743,628 (GRCm39) I319N probably damaging Het
Hectd4 C A 5: 121,487,279 (GRCm39) H3425N probably benign Het
Itga10 A G 3: 96,555,020 (GRCm39) D118G possibly damaging Het
Klra13-ps T G 6: 130,268,136 (GRCm39) noncoding transcript Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Krt5 T A 15: 101,620,042 (GRCm39) D225V probably damaging Het
Krtap4-9 G T 11: 99,676,380 (GRCm39) probably benign Het
Lama1 C A 17: 68,105,579 (GRCm39) A2029E probably damaging Het
Lrp2 T A 2: 69,291,761 (GRCm39) T3473S probably benign Het
Lrrc37 A T 11: 103,509,957 (GRCm39) probably benign Het
Lrriq1 G A 10: 103,036,424 (GRCm39) R910* probably null Het
Map1b C T 13: 99,571,450 (GRCm39) V424M probably damaging Het
Mrtfb T C 16: 13,197,737 (GRCm39) I85T possibly damaging Het
Mylk2 T C 2: 152,759,335 (GRCm39) S369P probably benign Het
Myom3 T G 4: 135,503,010 (GRCm39) F362L probably benign Het
Nomo1 A G 7: 45,699,684 (GRCm39) probably benign Het
Or10s1 T A 9: 39,985,630 (GRCm39) V13E probably damaging Het
Or1p1 T G 11: 74,180,120 (GRCm39) M216R probably benign Het
Or2l13b C T 16: 19,349,034 (GRCm39) G212D possibly damaging Het
Or2w4 A G 13: 21,795,398 (GRCm39) V247A probably damaging Het
Parp4 C T 14: 56,885,048 (GRCm39) L1376F unknown Het
Phykpl C A 11: 51,484,435 (GRCm39) A208E probably damaging Het
Pla2g15 T C 8: 106,886,887 (GRCm39) F126S probably damaging Het
Polq T G 16: 36,868,904 (GRCm39) M479R probably damaging Het
Prpf4b A G 13: 35,084,425 (GRCm39) T938A probably damaging Het
Psma1 A G 7: 113,870,369 (GRCm39) M63T probably damaging Het
Rbpms2 T C 9: 65,558,918 (GRCm39) S174P probably benign Het
Rcc1 G T 4: 132,063,080 (GRCm39) S162R probably damaging Het
Rev3l T G 10: 39,722,182 (GRCm39) L2520R probably damaging Het
Rhobtb1 T A 10: 69,085,443 (GRCm39) probably null Het
Rps19 G T 7: 24,588,595 (GRCm39) probably benign Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Selenof C T 3: 144,302,622 (GRCm39) R116* probably null Het
Slc16a11 T C 11: 70,107,205 (GRCm39) probably null Het
Stk3 A G 15: 34,959,074 (GRCm39) V296A probably damaging Het
Taar8b C A 10: 23,968,150 (GRCm39) E15* probably null Het
Tas2r102 T A 6: 132,739,642 (GRCm39) N183K possibly damaging Het
Tet2 T A 3: 133,191,310 (GRCm39) E1041D probably benign Het
Tm9sf1 A G 14: 55,878,660 (GRCm39) V244A probably damaging Het
Trgc4 G T 13: 19,536,457 (GRCm39) V172F probably benign Het
Trim24 T A 6: 37,933,371 (GRCm39) I650K probably damaging Het
Trim59 G T 3: 68,944,747 (GRCm39) Q198K probably benign Het
Ttc28 C T 5: 111,371,867 (GRCm39) T772I probably damaging Het
Tvp23a C T 16: 10,244,909 (GRCm39) V146M probably benign Het
Usp17la A T 7: 104,509,428 (GRCm39) D11V possibly damaging Het
Uspl1 A G 5: 149,151,202 (GRCm39) K801E probably damaging Het
Utp20 T C 10: 88,588,814 (GRCm39) I2452V probably benign Het
Vps18 T C 2: 119,123,757 (GRCm39) L228P probably damaging Het
Yju2b T C 8: 84,987,024 (GRCm39) T158A probably benign Het
Zfp410 A T 12: 84,372,510 (GRCm39) D112V probably damaging Het
Zfp872 G T 9: 22,108,490 (GRCm39) probably null Het
Zswim8 A G 14: 20,768,891 (GRCm39) E1110G 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
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
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 PCR Primer
(F):5'- TGAACATGCATGCACATACTCC -3'
(R):5'- AGTGAGCGCATTCCTAATGG -3'

Sequencing Primer
(F):5'- TGTGGTGGCAAACAAATCCC -3'
(R):5'- TCCTAATGGAAATCCCCTGGC -3'
Posted On 2016-06-24