Incidental Mutation 'R3963:Usp48'
ID 312171
Institutional Source Beutler Lab
Gene Symbol Usp48
Ensembl Gene ENSMUSG00000043411
Gene Name ubiquitin specific peptidase 48
Synonyms Usp31, 2810449C13Rik, D330022K21Rik
MMRRC Submission 040932-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R3963 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 137321079-137385842 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 137360750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 26 (R26*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055131] [ENSMUST00000105840] [ENSMUST00000141628]
AlphaFold Q3V0C5
Predicted Effect probably null
Transcript: ENSMUST00000055131
AA Change: R728*
SMART Domains Protein: ENSMUSP00000055016
Gene: ENSMUSG00000043411
AA Change: R728*

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
AA Change: R730*
SMART Domains Protein: ENSMUSP00000101466
Gene: ENSMUSG00000043411
AA Change: R730*

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: ENSMUST00000128065
AA Change: R147*
SMART Domains Protein: ENSMUSP00000115533
Gene: ENSMUSG00000043411
AA Change: R147*

DomainStartEndE-ValueType
Blast:DUSP 9 111 2e-13 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000131755
AA Change: R2*
Predicted Effect probably null
Transcript: ENSMUST00000141426
AA Change: R26*
SMART Domains Protein: ENSMUSP00000118084
Gene: ENSMUSG00000043411
AA Change: R26*

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 noncoding transcript
Transcript: ENSMUST00000152985
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154395
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (61/61)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 T C 8: 114,504,443 (GRCm39) D59G probably benign Het
Ank2 A T 3: 126,728,245 (GRCm39) S783T probably benign Het
Arfgef3 T C 10: 18,468,025 (GRCm39) D1725G probably damaging Het
B3gnt5 A G 16: 19,587,798 (GRCm39) S6G probably benign Het
Btbd8 G A 5: 107,655,222 (GRCm39) C1007Y probably damaging Het
Ccdc82 C A 9: 13,252,011 (GRCm39) T101K possibly damaging Het
Ccdc85a A C 11: 28,526,396 (GRCm39) M376R probably benign Het
Cd200r1 T A 16: 44,613,158 (GRCm39) C255S probably benign Het
Cdc23 T C 18: 34,779,972 (GRCm39) M119V probably benign Het
Cers3 G T 7: 66,435,823 (GRCm39) A261S probably benign Het
Clptm1 C T 7: 19,372,121 (GRCm39) W238* probably null Het
Cr2 A G 1: 194,842,047 (GRCm39) V302A probably damaging Het
Cyp4a31 A G 4: 115,431,969 (GRCm39) probably benign Het
Dennd4a T A 9: 64,769,613 (GRCm39) I440N probably damaging Het
Dsc2 C T 18: 20,184,284 (GRCm39) V35I probably damaging Het
Dyrk1a T A 16: 94,464,605 (GRCm39) M71K probably benign Het
Exoc3l2 G A 7: 19,229,181 (GRCm39) G200S probably benign Het
Fhip2a T C 19: 57,361,442 (GRCm39) L122P possibly damaging Het
Fkbp15 A T 4: 62,258,914 (GRCm39) I114N probably damaging Het
Fpr-rs6 G A 17: 20,402,479 (GRCm39) P294L probably damaging Het
Frmd6 A G 12: 70,940,638 (GRCm39) T428A probably benign Het
G6pd2 T A 5: 61,966,228 (GRCm39) M1K probably null Het
Gdf3 C T 6: 122,583,717 (GRCm39) V217I probably benign Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Gtf3c1 T C 7: 125,292,397 (GRCm39) probably null Het
Hrg G A 16: 22,774,825 (GRCm39) V152I possibly damaging Het
Itpkc T C 7: 26,926,934 (GRCm39) T327A probably damaging Het
Jade1 T C 3: 41,555,845 (GRCm39) V304A probably damaging Het
Leo1 C A 9: 75,357,762 (GRCm39) probably benign Het
Lrrc7 A T 3: 157,866,042 (GRCm39) L1233Q probably damaging Het
Ltbp3 G A 19: 5,804,050 (GRCm39) R854Q probably benign Het
Matn2 C A 15: 34,388,937 (GRCm39) Y342* probably null Het
Minar1 G A 9: 89,483,963 (GRCm39) T478I probably damaging Het
Mlh3 T C 12: 85,315,454 (GRCm39) H244R possibly damaging Het
Mmaa A T 8: 79,994,843 (GRCm39) V321E probably damaging Het
Ntng1 T A 3: 109,842,184 (GRCm39) L196F probably damaging Het
Oas1e A G 5: 120,932,205 (GRCm39) V146A probably damaging Het
Or52z1 G T 7: 103,437,241 (GRCm39) T81K probably benign Het
Plcxd2 T C 16: 45,800,864 (GRCm39) K120R probably damaging Het
Prex2 G T 1: 11,180,581 (GRCm39) C382F possibly damaging Het
Psg29 T A 7: 16,942,510 (GRCm39) H170Q probably benign Het
Ptprk A G 10: 28,427,661 (GRCm39) T747A probably damaging Het
Qki G A 17: 10,435,394 (GRCm39) probably benign Het
Rpusd2 A G 2: 118,869,085 (GRCm39) T503A probably benign Het
Rtn3 T C 19: 7,435,510 (GRCm39) S142G probably damaging Het
Slco1a5 C T 6: 142,194,370 (GRCm39) probably null Het
Snap91 A T 9: 86,657,665 (GRCm39) W509R probably damaging Het
Srsf3 C T 17: 29,255,430 (GRCm39) probably benign Het
Tmem267 A T 13: 119,629,175 (GRCm39) probably null Het
Tmem63a G A 1: 180,790,679 (GRCm39) D446N possibly damaging Het
Tnfaip8 C A 18: 50,223,653 (GRCm39) H154N possibly damaging Het
Trim35 T C 14: 66,541,503 (GRCm39) L209P probably damaging Het
Ttf1 A G 2: 28,954,816 (GRCm39) E60G possibly damaging Het
Ttf2 T C 3: 100,849,136 (GRCm39) probably benign Het
Tubg2 T C 11: 101,051,224 (GRCm39) probably null Het
Ubap1l C T 9: 65,276,477 (GRCm39) probably benign Het
Vmn1r222 A G 13: 23,417,102 (GRCm39) V37A probably benign Het
Vmn2r4 T A 3: 64,322,572 (GRCm39) N49I probably damaging Het
Zfp979 A T 4: 147,697,588 (GRCm39) C374S 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
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 PCR Primer
(F):5'- AAGTTACAGAGAGTGCTGCTC -3'
(R):5'- ACCCCTTGTTATATTCAGGTTGTG -3'

Sequencing Primer
(F):5'- CGTAGCTCTAATGTCTGAGGGAAG -3'
(R):5'- TCAGGTTGTGCAATAAAATGGAAC -3'
Genotyping

Genotyping is performed by amplifying the region containing the mutation using PCR, followed by sequencing of the amplified region to detect the single nucleotide transversion.
 

PCR Primers

R39630014_PCR_F: 5’- AAGTTACAGAGAGTGCTGCTC-3’

R39630014_PCR_R: 5’- ACCCCTTGTTATATTCAGGTTGTG-3’

Sequencing Primers

R39630014_SEQ_F: 5’- CGTAGCTCTAATGTCTGAGGGAAG-3’
 

R39630014_SEQ_R: 5’- TCAGGTTGTGCAATAAAATGGAAC-3’
 

PCR program

1) 94°C             2:00

2) 94°C             0:30

3) 55°C             0:30

4) 72°C             1:00

5) repeat steps (2-4) 40X

6) 72°C             10:00

7) 4°C               hold

The following sequence of 409 nucleotides is amplified (NCBI RefSeq: NC_000070, chromosome 4:137633208-137633616):

aagttacaga gagtgctgct cgcagtgcaa ggtgcgtagc tctaatgtct gagggaagga       

aaggtttgcc cctccctggg gtgggggggt gcctgtgacc agtgcgggtc ggctgacggc      

ttccatcttt ttcagatact agaacgagaa ggtgaagaaa acgaagcctt gcataagatg      

atagcaaacg agcagaagac ctcacttcca aacttgttcc aggacaaaaa cagaccatgt      

ctcagtaact ggccagaggt actgattgcc cgcagcttta aaggcctctg cagatttttg      

tgaggtcaac ctggccttct tctccttctt cctcacttcc ttctctcatc gggaggcaca      

ccagctcact agttccattt tattgcacaa cctgaatata acaaggggt

Primer binding sites are underlined and the sequencing primer is highlighted; the mutated nucleotide is shown in red text (Chr. + strand, A>T).

Posted On 2015-04-29