Incidental Mutation 'R1752:Usp4'
ID 193629
Institutional Source Beutler Lab
Gene Symbol Usp4
Ensembl Gene ENSMUSG00000032612
Gene Name ubiquitin specific peptidase 4 (proto-oncogene)
Synonyms Unp, F730026I20Rik
MMRRC Submission 039784-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.139) question?
Stock # R1752 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 108225052-108269744 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108251441 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 539 (Y539H)
Ref Sequence ENSEMBL: ENSMUSP00000141321 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035237] [ENSMUST00000194224] [ENSMUST00000194959]
AlphaFold P35123
Predicted Effect possibly damaging
Transcript: ENSMUST00000035237
AA Change: Y539H

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000035237
Gene: ENSMUSG00000032612
AA Change: Y539H

DomainStartEndE-ValueType
DUSP 27 125 1.39e-46 SMART
Pfam:Ubiquitin_3 139 226 6.7e-34 PFAM
low complexity region 263 286 N/A INTRINSIC
Pfam:UCH 301 919 2.2e-84 PFAM
Pfam:UCH_1 302 507 2.8e-8 PFAM
Pfam:UCH_1 605 901 1.4e-15 PFAM
low complexity region 927 938 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000193288
AA Change: Y66H
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194065
Predicted Effect probably damaging
Transcript: ENSMUST00000194224
AA Change: Y539H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141321
Gene: ENSMUSG00000032612
AA Change: Y539H

DomainStartEndE-ValueType
DUSP 27 125 5.5e-49 SMART
Pfam:Ubiquitin_3 139 226 1.3e-30 PFAM
low complexity region 263 286 N/A INTRINSIC
Pfam:UCH 301 633 1.4e-50 PFAM
Pfam:UCH_1 302 520 2.3e-8 PFAM
low complexity region 657 673 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000194959
AA Change: Y492H

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000141368
Gene: ENSMUSG00000032612
AA Change: Y492H

DomainStartEndE-ValueType
DUSP 27 125 5.5e-49 SMART
Pfam:Ubiquitin_3 139 226 1.7e-30 PFAM
Pfam:UCH 254 872 7e-89 PFAM
Pfam:UCH_1 255 469 3.5e-8 PFAM
Pfam:UCH_1 566 854 2.5e-14 PFAM
low complexity region 880 891 N/A INTRINSIC
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a protease that deubiquitinates target proteins such as ADORA2A and TRIM21. The encoded protein shuttles between the nucleus and cytoplasm and is involved in maintaining operational fidelity in the endoplasmic reticulum. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased irradiation-induced apoptosis, slow cellular growth, resistance to oncogenic transformation, and early cellular replicative senescence. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,842,468 (GRCm39) V1134A probably benign Het
Accsl C T 2: 93,688,375 (GRCm39) G420S probably damaging Het
Adam29 A G 8: 56,325,309 (GRCm39) S382P probably damaging Het
Apob T C 12: 8,038,766 (GRCm39) L393P probably benign Het
Arhgef19 T G 4: 140,978,354 (GRCm39) S616A probably benign Het
Atp11a C T 8: 12,863,094 (GRCm39) T91I probably damaging Het
Ccdc88b C T 19: 6,830,690 (GRCm39) V751I probably benign Het
Ccni T C 5: 93,350,315 (GRCm39) probably benign Het
Cd2 G A 3: 101,183,511 (GRCm39) A266V probably benign Het
Cd33 T C 7: 43,181,722 (GRCm39) D146G probably benign Het
Cdh16 A G 8: 105,346,505 (GRCm39) probably null Het
Chd1 T C 17: 15,963,494 (GRCm39) probably null Het
Chd5 A T 4: 152,459,590 (GRCm39) I1109F probably damaging Het
Cir1 T C 2: 73,140,882 (GRCm39) E29G probably damaging Het
Clec5a T C 6: 40,559,187 (GRCm39) T66A probably damaging Het
Cpa2 A G 6: 30,552,023 (GRCm39) D250G probably damaging Het
Crybg2 T A 4: 133,800,961 (GRCm39) L707H probably damaging Het
Csmd3 T C 15: 47,523,669 (GRCm39) T2646A probably benign Het
Cul7 G A 17: 46,964,093 (GRCm39) R390Q probably benign Het
Cyp2c69 T A 19: 39,869,597 (GRCm39) I141F probably damaging Het
Dapk2 C G 9: 66,127,925 (GRCm39) R68G probably damaging Het
Dclk2 C T 3: 86,713,434 (GRCm39) V470I possibly damaging Het
Dixdc1 A G 9: 50,593,850 (GRCm39) V530A probably benign Het
Dock7 A G 4: 98,854,681 (GRCm39) F1528L probably damaging Het
Edn1 T A 13: 42,457,075 (GRCm39) V36E possibly damaging Het
Eng T C 2: 32,563,404 (GRCm39) V319A probably benign Het
Epb41l2 A G 10: 25,336,690 (GRCm39) K229E probably damaging Het
Fam184a T C 10: 53,550,666 (GRCm39) N698S probably benign Het
Fndc7 T C 3: 108,776,646 (GRCm39) N465S probably benign Het
Fstl4 T C 11: 53,077,622 (GRCm39) V793A probably benign Het
Gm9797 A T 10: 11,485,287 (GRCm39) noncoding transcript Het
Hsd17b4 T C 18: 50,303,834 (GRCm39) S436P probably benign Het
Itsn2 T G 12: 4,761,950 (GRCm39) probably null Het
Kank3 T C 17: 34,038,791 (GRCm39) V570A probably damaging Het
Kif13a A T 13: 46,951,885 (GRCm39) F733Y probably damaging Het
Kif16b G T 2: 142,532,586 (GRCm39) D1184E probably benign Het
Kif20a A G 18: 34,764,634 (GRCm39) D727G possibly damaging Het
Kif20b T A 19: 34,915,736 (GRCm39) S504R probably benign Het
Lrrc37 T C 11: 103,505,381 (GRCm39) T2196A possibly damaging Het
Ltbp3 C A 19: 5,795,685 (GRCm39) H180Q probably benign Het
Luzp2 T C 7: 54,914,088 (GRCm39) S306P possibly damaging Het
Macf1 T C 4: 123,377,465 (GRCm39) I1490V possibly damaging Het
Manba T A 3: 135,212,706 (GRCm39) W72R probably damaging Het
Mast1 A G 8: 85,651,965 (GRCm39) V339A probably benign Het
Mnx1 A G 5: 29,682,727 (GRCm39) S183P unknown Het
Muc5b T G 7: 141,421,488 (GRCm39) L4326R possibly damaging Het
Myb T C 10: 21,032,336 (GRCm39) D15G possibly damaging Het
Ncapg2 A T 12: 116,390,338 (GRCm39) D429V probably damaging Het
Neurod6 A G 6: 55,656,511 (GRCm39) V42A probably benign Het
Nfxl1 A T 5: 72,698,218 (GRCm39) C276S probably damaging Het
Nptx2 C A 5: 144,492,171 (GRCm39) T316N probably damaging Het
Nrp2 T A 1: 62,777,600 (GRCm39) F135Y probably damaging Het
Nxpe3 A T 16: 55,686,837 (GRCm39) F57Y probably benign Het
Or4c109 C A 2: 88,817,659 (GRCm39) A296S possibly damaging Het
Or51ag1 T A 7: 103,155,765 (GRCm39) R129S probably benign Het
Osbpl11 T C 16: 33,025,205 (GRCm39) Y144H probably damaging Het
Pax5 T C 4: 44,609,729 (GRCm39) Y233C probably damaging Het
Pck1 A G 2: 172,998,906 (GRCm39) N388S probably benign Het
Plcd3 T A 11: 102,971,085 (GRCm39) Q157L probably benign Het
Pnma2 A C 14: 67,153,785 (GRCm39) M70L probably benign Het
Pogk T C 1: 166,235,997 (GRCm39) K35E probably damaging Het
Ptprb T A 10: 116,176,895 (GRCm39) V1227E probably benign Het
Pygm T A 19: 6,441,064 (GRCm39) V450E probably damaging Het
Rb1 T A 14: 73,525,064 (GRCm39) I190F probably damaging Het
Setd2 T A 9: 110,423,673 (GRCm39) Y2243N probably damaging Het
Slc11a2 A T 15: 100,303,687 (GRCm39) L182Q probably damaging Het
Slc45a3 T C 1: 131,905,259 (GRCm39) L94P probably damaging Het
Slc9a4 T C 1: 40,668,421 (GRCm39) F688S probably benign Het
Slit3 A T 11: 35,455,480 (GRCm39) I196F probably damaging Het
Sprn G A 7: 139,733,408 (GRCm39) probably benign Het
Spsb2 A G 6: 124,787,292 (GRCm39) D242G probably benign Het
Srpk2 A G 5: 23,733,017 (GRCm39) I111T probably damaging Het
St8sia4 T A 1: 95,519,537 (GRCm39) Y317F probably benign Het
Stat5a T A 11: 100,774,884 (GRCm39) *798K probably null Het
Sult1c2 C T 17: 54,271,777 (GRCm39) V137M possibly damaging Het
Synj1 T C 16: 90,735,361 (GRCm39) T1531A probably benign Het
Tasor T A 14: 27,193,885 (GRCm39) Y1028* probably null Het
Tax1bp1 A G 6: 52,698,398 (GRCm39) T37A probably damaging Het
Tet1 T A 10: 62,648,768 (GRCm39) D1888V probably damaging Het
Tln1 T C 4: 43,536,311 (GRCm39) T1994A probably damaging Het
Tmco3 A C 8: 13,341,741 (GRCm39) D5A probably benign Het
Tnk1 T A 11: 69,747,532 (GRCm39) N74I possibly damaging Het
Ttc16 A T 2: 32,662,162 (GRCm39) S120T probably damaging Het
Ttn T A 2: 76,774,448 (GRCm39) T2153S probably damaging Het
Ttn A G 2: 76,594,606 (GRCm39) V20480A probably damaging Het
Zar1 A C 5: 72,734,715 (GRCm39) V168G probably damaging Het
Zcchc9 T C 13: 91,953,899 (GRCm39) K119E possibly damaging Het
Zfp251 T C 15: 76,737,863 (GRCm39) N410S possibly damaging Het
Zfp605 A T 5: 110,271,639 (GRCm39) D10V probably damaging Het
Zyg11a A T 4: 108,062,479 (GRCm39) N107K possibly damaging Het
Other mutations in Usp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01530:Usp4 APN 9 108,240,099 (GRCm39) critical splice donor site probably null
IGL01663:Usp4 APN 9 108,243,079 (GRCm39) missense possibly damaging 0.80
IGL02105:Usp4 APN 9 108,262,131 (GRCm39) missense probably damaging 1.00
IGL02486:Usp4 APN 9 108,228,228 (GRCm39) missense probably damaging 1.00
kleinesrot UTSW 9 108,233,661 (GRCm39) missense possibly damaging 0.95
R0148:Usp4 UTSW 9 108,268,870 (GRCm39) splice site probably null
R0285:Usp4 UTSW 9 108,255,763 (GRCm39) missense probably benign 0.33
R0591:Usp4 UTSW 9 108,225,228 (GRCm39) splice site probably benign
R0594:Usp4 UTSW 9 108,248,080 (GRCm39) splice site probably null
R0616:Usp4 UTSW 9 108,244,003 (GRCm39) missense probably benign
R1329:Usp4 UTSW 9 108,249,765 (GRCm39) missense probably damaging 1.00
R1508:Usp4 UTSW 9 108,249,873 (GRCm39) missense probably benign 0.14
R1824:Usp4 UTSW 9 108,225,207 (GRCm39) missense probably damaging 1.00
R1846:Usp4 UTSW 9 108,249,935 (GRCm39) missense probably benign
R2196:Usp4 UTSW 9 108,250,885 (GRCm39) missense probably benign 0.07
R2925:Usp4 UTSW 9 108,245,055 (GRCm39) missense probably damaging 1.00
R4126:Usp4 UTSW 9 108,237,316 (GRCm39) missense probably benign 0.10
R4345:Usp4 UTSW 9 108,245,222 (GRCm39) intron probably benign
R4965:Usp4 UTSW 9 108,239,819 (GRCm39) missense probably damaging 1.00
R4981:Usp4 UTSW 9 108,258,617 (GRCm39) missense probably benign 0.00
R5110:Usp4 UTSW 9 108,239,877 (GRCm39) missense probably damaging 1.00
R5580:Usp4 UTSW 9 108,243,058 (GRCm39) missense probably benign 0.09
R5586:Usp4 UTSW 9 108,233,661 (GRCm39) missense possibly damaging 0.95
R5927:Usp4 UTSW 9 108,268,959 (GRCm39) missense probably benign 0.09
R6025:Usp4 UTSW 9 108,237,322 (GRCm39) missense possibly damaging 0.70
R6112:Usp4 UTSW 9 108,233,703 (GRCm39) missense probably damaging 1.00
R6197:Usp4 UTSW 9 108,248,154 (GRCm39) missense probably damaging 1.00
R6742:Usp4 UTSW 9 108,251,438 (GRCm39) missense possibly damaging 0.74
R7320:Usp4 UTSW 9 108,265,505 (GRCm39) missense probably benign 0.00
R7458:Usp4 UTSW 9 108,245,055 (GRCm39) missense probably damaging 1.00
R7531:Usp4 UTSW 9 108,249,879 (GRCm39) missense probably damaging 1.00
R7563:Usp4 UTSW 9 108,256,543 (GRCm39) missense probably benign
R8022:Usp4 UTSW 9 108,255,670 (GRCm39) missense probably damaging 0.99
R8510:Usp4 UTSW 9 108,265,581 (GRCm39) critical splice donor site probably null
R8996:Usp4 UTSW 9 108,268,909 (GRCm39) missense probably damaging 1.00
R9151:Usp4 UTSW 9 108,244,011 (GRCm39) missense probably benign 0.00
R9775:Usp4 UTSW 9 108,239,780 (GRCm39) missense probably damaging 1.00
X0026:Usp4 UTSW 9 108,225,069 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- GAAGGCAATGTCATCAAACAGCCG -3'
(R):5'- ACAAGCACTGGGTCAGCTACTAGG -3'

Sequencing Primer
(F):5'- ATCAAACAGCCGTGCTGG -3'
(R):5'- GGGTCAGCTACTAGGACATATATAC -3'
Posted On 2014-05-23