Incidental Mutation 'IGL01663:Usp4'
ID103228
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp4
Ensembl Gene ENSMUSG00000032612
Gene Nameubiquitin specific peptidase 4 (proto-oncogene)
SynonymsF730026I20Rik, Unp
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.150) question?
Stock #IGL01663
Quality Score
Status
Chromosome9
Chromosomal Location108347853-108392545 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 108365880 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Glutamic Acid at position 249 (A249E)
Ref Sequence ENSEMBL: ENSMUSP00000141321 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035237] [ENSMUST00000194224] [ENSMUST00000194959]
Predicted Effect possibly damaging
Transcript: ENSMUST00000035237
AA Change: A249E

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000035237
Gene: ENSMUSG00000032612
AA Change: A249E

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: ENSMUST00000194034
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194065
Predicted Effect possibly damaging
Transcript: ENSMUST00000194224
AA Change: A249E

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000141321
Gene: ENSMUSG00000032612
AA Change: A249E

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 probably benign
Transcript: ENSMUST00000194959
SMART Domains Protein: ENSMUSP00000141368
Gene: ENSMUSG00000032612

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
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A G 11: 84,277,802 I1085V possibly damaging Het
Adamts16 T C 13: 70,793,141 T376A probably benign Het
Aifm3 T A 16: 17,502,786 probably null Het
Ankrd16 A G 2: 11,778,662 E25G probably damaging Het
Ano6 T A 15: 95,967,614 probably null Het
Cdh18 T C 15: 23,445,991 I509T possibly damaging Het
Cdon A G 9: 35,483,214 T919A possibly damaging Het
Clca3a2 G A 3: 144,817,155 P148L probably damaging Het
Dnph1 G T 17: 46,498,482 R74L probably benign Het
Epha6 C T 16: 59,775,644 A895T probably damaging Het
Exoc3l4 T A 12: 111,429,411 probably benign Het
Fbll1 A G 11: 35,797,821 I205T probably damaging Het
Frem2 T A 3: 53,517,013 H3001L probably damaging Het
Galk2 A G 2: 125,983,179 N432D probably benign Het
Gm7535 A C 17: 17,911,357 probably benign Het
Il10 A G 1: 131,021,414 E104G probably benign Het
Il1a T C 2: 129,304,717 K152R probably benign Het
Kdm1b T A 13: 47,073,737 N568K probably damaging Het
Kmt2c A C 5: 25,310,670 L2725R probably damaging Het
Krba1 G T 6: 48,411,754 L527F probably damaging Het
Lrp2 A G 2: 69,428,706 S4547P probably benign Het
Nin G T 12: 70,043,665 A992E possibly damaging Het
Olfr510 T A 7: 108,667,891 H158Q probably benign Het
Olfr740 G A 14: 50,453,150 V33M probably benign Het
Pcdhb1 A G 18: 37,267,133 I712M possibly damaging Het
Prmt2 C T 10: 76,217,309 probably null Het
Rbm20 T G 19: 53,840,995 V608G probably damaging Het
Smarcc2 C T 10: 128,488,977 probably benign Het
Speer3 A T 5: 13,793,222 R48* probably null Het
Tlr1 A T 5: 64,925,073 N720K possibly damaging Het
Tnfrsf21 A T 17: 43,087,811 M603L probably benign Het
Ttc3 T A 16: 94,409,731 probably null Het
Wdr20 T A 12: 110,793,514 V278E probably damaging Het
Other mutations in Usp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01530:Usp4 APN 9 108362900 critical splice donor site probably null
IGL02105:Usp4 APN 9 108384932 missense probably damaging 1.00
IGL02486:Usp4 APN 9 108351029 missense probably damaging 1.00
R0148:Usp4 UTSW 9 108391671 splice site probably null
R0285:Usp4 UTSW 9 108378564 missense probably benign 0.33
R0591:Usp4 UTSW 9 108348029 splice site probably benign
R0594:Usp4 UTSW 9 108370881 intron probably null
R0616:Usp4 UTSW 9 108366804 missense probably benign
R1329:Usp4 UTSW 9 108372566 missense probably damaging 1.00
R1508:Usp4 UTSW 9 108372674 missense probably benign 0.14
R1752:Usp4 UTSW 9 108374242 missense probably damaging 1.00
R1824:Usp4 UTSW 9 108348008 missense probably damaging 1.00
R1846:Usp4 UTSW 9 108372736 missense probably benign
R2196:Usp4 UTSW 9 108373686 missense probably benign 0.07
R2925:Usp4 UTSW 9 108367856 missense probably damaging 1.00
R4126:Usp4 UTSW 9 108360117 missense probably benign 0.10
R4345:Usp4 UTSW 9 108368023 intron probably benign
R4965:Usp4 UTSW 9 108362620 missense probably damaging 1.00
R4981:Usp4 UTSW 9 108381418 missense probably benign 0.00
R5110:Usp4 UTSW 9 108362678 missense probably damaging 1.00
R5580:Usp4 UTSW 9 108365859 missense probably benign 0.09
R5586:Usp4 UTSW 9 108356462 missense possibly damaging 0.95
R5927:Usp4 UTSW 9 108391760 missense probably benign 0.09
R6025:Usp4 UTSW 9 108360123 missense possibly damaging 0.70
R6112:Usp4 UTSW 9 108356504 missense probably damaging 1.00
R6197:Usp4 UTSW 9 108370955 missense probably damaging 1.00
R6742:Usp4 UTSW 9 108374239 missense possibly damaging 0.74
R7320:Usp4 UTSW 9 108388306 missense probably benign 0.00
R7458:Usp4 UTSW 9 108367856 missense probably damaging 1.00
R7531:Usp4 UTSW 9 108372680 missense probably damaging 1.00
R7563:Usp4 UTSW 9 108379344 missense probably benign
R8022:Usp4 UTSW 9 108378471 missense probably damaging 0.99
X0026:Usp4 UTSW 9 108347870 unclassified probably benign
Posted On2014-01-21