Incidental Mutation 'R6025:Usp4'
ID 479981
Institutional Source Beutler Lab
Gene Symbol Usp4
Ensembl Gene ENSMUSG00000032612
Gene Name ubiquitin specific peptidase 4 (proto-oncogene)
Synonyms Unp, F730026I20Rik
MMRRC Submission 044197-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.139) question?
Stock # R6025 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 108225052-108269744 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108237322 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 130 (H130R)
Ref Sequence ENSEMBL: ENSMUSP00000141368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035237] [ENSMUST00000194224] [ENSMUST00000194959]
AlphaFold P35123
Predicted Effect probably benign
Transcript: ENSMUST00000035237
AA Change: H130R

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000035237
Gene: ENSMUSG00000032612
AA Change: H130R

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 noncoding transcript
Transcript: ENSMUST00000192750
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193093
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194034
Predicted Effect possibly damaging
Transcript: ENSMUST00000194224
AA Change: H130R

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141321
Gene: ENSMUSG00000032612
AA Change: H130R

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: H130R

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141368
Gene: ENSMUSG00000032612
AA Change: H130R

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195283
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 92.0%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310033P09Rik GC G 11: 59,101,139 (GRCm39) probably null Het
Acvr1b C A 15: 101,092,856 (GRCm39) D166E probably benign Het
Adgra2 T C 8: 27,604,491 (GRCm39) I522T probably damaging Het
Adgre4 C T 17: 56,099,013 (GRCm39) S173L probably benign Het
Akap9 A T 5: 4,082,801 (GRCm39) Q1975L probably damaging Het
Ap3d1 T A 10: 80,546,298 (GRCm39) M965L probably benign Het
Brca2 CATA CA 5: 150,465,040 (GRCm39) probably null Het
Chd6 T C 2: 160,807,502 (GRCm39) N1904S probably benign Het
Clstn3 A T 6: 124,408,623 (GRCm39) S896R possibly damaging Het
Col6a3 T A 1: 90,755,824 (GRCm39) D155V probably damaging Het
Dct T C 14: 118,273,876 (GRCm39) T344A possibly damaging Het
Dctn1 T A 6: 83,170,673 (GRCm39) probably null Het
Dgkz T C 2: 91,776,255 (GRCm39) T3A possibly damaging Het
Duoxa2 T C 2: 122,132,332 (GRCm39) S249P possibly damaging Het
Ehbp1 A T 11: 22,189,156 (GRCm39) V82E probably damaging Het
Fcho1 A T 8: 72,165,217 (GRCm39) probably null Het
Garin5b T A 7: 4,761,143 (GRCm39) D523V probably benign Het
Ifi213 T A 1: 173,422,800 (GRCm39) N22Y probably damaging Het
Kcnq1 T A 7: 142,660,170 (GRCm39) probably benign Het
Kif7 T A 7: 79,354,388 (GRCm39) Q799L probably benign Het
Lmnb1 T A 18: 56,862,456 (GRCm39) L206* probably null Het
Lonp2 G T 8: 87,440,001 (GRCm39) G247V probably damaging Het
Ly75 T C 2: 60,206,306 (GRCm39) Y121C probably damaging Het
Mboat1 C A 13: 30,408,509 (GRCm39) T224K probably benign Het
Mcm9 T C 10: 53,492,073 (GRCm39) E416G possibly damaging Het
Mtnr1b A T 9: 15,774,093 (GRCm39) I322N probably damaging Het
Nanog G A 6: 122,690,350 (GRCm39) G227R possibly damaging Het
Nbn T C 4: 15,981,347 (GRCm39) S480P probably damaging Het
Nek10 C A 14: 14,865,633 (GRCm38) L638M probably benign Het
Nelfcd T C 2: 174,268,611 (GRCm39) V538A probably damaging Het
Or1e33 A T 11: 73,738,745 (GRCm39) S69T probably benign Het
Or2b4 T G 17: 38,116,312 (GRCm39) I92S probably damaging Het
Or52a5b T C 7: 103,417,416 (GRCm39) I63V probably benign Het
Or5b97 T A 19: 12,879,034 (GRCm39) T37S probably benign Het
Phf24 G A 4: 42,938,780 (GRCm39) probably null Het
Pigz T C 16: 31,764,528 (GRCm39) S529P probably damaging Het
Pik3r5 A G 11: 68,383,144 (GRCm39) E321G probably damaging Het
Plcb3 G A 19: 6,933,547 (GRCm39) T926I probably benign Het
Pm20d2 G A 4: 33,181,833 (GRCm39) P257S probably damaging Het
Pon2 A G 6: 5,289,057 (GRCm39) V34A probably benign Het
Prkar2b A G 12: 32,110,855 (GRCm39) F76S possibly damaging Het
Prpf31 G A 7: 3,642,668 (GRCm39) E414K probably benign Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Setbp1 A T 18: 78,902,455 (GRCm39) L404Q probably damaging Het
Slc26a11 C T 11: 119,265,654 (GRCm39) A389V probably damaging Het
Slc2a1 A T 4: 118,993,539 (GRCm39) T459S possibly damaging Het
Spi1 T C 2: 90,944,685 (GRCm39) L135P probably benign Het
Sspo T C 6: 48,463,720 (GRCm39) L3844P possibly damaging Het
Stxbp5 T A 10: 9,675,772 (GRCm39) T616S probably benign Het
Syde2 A G 3: 145,712,896 (GRCm39) probably null Het
Synm G T 7: 67,384,686 (GRCm39) A550D possibly damaging Het
Tanc2 T C 11: 105,787,373 (GRCm39) V891A possibly damaging Het
Tanc2 G A 11: 105,758,543 (GRCm39) R768Q probably damaging Het
Tlx1 A T 19: 45,144,413 (GRCm39) Q45L probably damaging Het
Tmem104 C A 11: 115,096,349 (GRCm39) Y191* probably null Het
Tmem17 A C 11: 22,468,659 (GRCm39) *199C probably null Het
Tns3 A T 11: 8,442,578 (GRCm39) M595K possibly damaging Het
Tyk2 A G 9: 21,027,256 (GRCm39) V538A probably benign Het
Unc80 A G 1: 66,734,727 (GRCm39) D3250G possibly damaging Het
Zfhx2 T C 14: 55,302,665 (GRCm39) Q1773R probably benign Het
Zfp790 A G 7: 29,528,970 (GRCm39) K552E possibly damaging Het
Zswim5 G A 4: 116,808,106 (GRCm39) R230Q probably 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
R1752:Usp4 UTSW 9 108,251,441 (GRCm39) missense probably damaging 1.00
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
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'- GGTTCCCTGAAGATATACTTGGTTC -3'
(R):5'- TCAGGACTGAAGACCACAGATG -3'

Sequencing Primer
(F):5'- TCAAAGGTGTGTGCCATCAC -3'
(R):5'- ACTGAAGACCACAGATGAGTAAC -3'
Posted On 2017-06-26