Incidental Mutation 'R6112:Usp4'
ID 484912
Institutional Source Beutler Lab
Gene Symbol Usp4
Ensembl Gene ENSMUSG00000032612
Gene Name ubiquitin specific peptidase 4 (proto-oncogene)
Synonyms Unp, F730026I20Rik
MMRRC Submission 044261-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.139) question?
Stock # R6112 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 108225052-108269744 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108233703 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 108 (Y108C)
Ref Sequence ENSEMBL: ENSMUSP00000141368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035237] [ENSMUST00000194224] [ENSMUST00000194959]
AlphaFold P35123
Predicted Effect probably damaging
Transcript: ENSMUST00000035237
AA Change: Y108C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035237
Gene: ENSMUSG00000032612
AA Change: Y108C

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 probably damaging
Transcript: ENSMUST00000194224
AA Change: Y108C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141321
Gene: ENSMUSG00000032612
AA Change: Y108C

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 damaging
Transcript: ENSMUST00000194959
AA Change: Y108C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141368
Gene: ENSMUSG00000032612
AA Change: Y108C

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
Meta Mutation Damage Score 0.9670 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.1%
Validation Efficiency 98% (54/55)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 A G 16: 14,278,780 (GRCm39) Y1030C probably damaging Het
Adh5 G T 3: 138,157,029 (GRCm39) V197F probably damaging Het
Ankmy1 A T 1: 92,798,684 (GRCm39) F936I probably damaging Het
Aoc1 A T 6: 48,885,625 (GRCm39) D710V probably damaging Het
Aplp1 T C 7: 30,134,902 (GRCm39) E622G probably damaging Het
Arhgap20 T C 9: 51,740,684 (GRCm39) Y219H probably damaging Het
Bag3 A G 7: 128,143,556 (GRCm39) D184G probably damaging Het
Cacna1g C T 11: 94,300,072 (GRCm39) A2216T probably damaging Het
Cbarp T C 10: 79,971,205 (GRCm39) probably null Het
Cep250 C A 2: 155,836,503 (GRCm39) L2211I possibly damaging Het
Cfap65 A G 1: 74,942,298 (GRCm39) I1752T probably benign Het
Col4a4 A G 1: 82,431,604 (GRCm39) V1560A unknown Het
Dapk3 A T 10: 81,019,864 (GRCm39) Q6L probably benign Het
Dctn5 A G 7: 121,732,460 (GRCm39) probably benign Het
Eef1akmt1 A T 14: 57,787,330 (GRCm39) I182N possibly damaging Het
Eef1g T C 19: 8,954,955 (GRCm39) F346S probably damaging Het
Erap1 G T 13: 74,794,398 (GRCm39) W19L probably benign Het
Gm10801 A G 2: 98,494,409 (GRCm39) H162R probably benign Het
Gpm6a G A 8: 55,507,845 (GRCm39) A194T probably benign Het
Grip1 C A 10: 119,829,137 (GRCm39) N32K probably benign Het
Hmcn1 A G 1: 150,494,687 (GRCm39) I4134T probably damaging Het
Hspa14 G A 2: 3,499,105 (GRCm39) H230Y probably benign Het
Ift172 T C 5: 31,414,241 (GRCm39) T1435A probably benign Het
Igsf3 T A 3: 101,358,322 (GRCm39) Y738N probably damaging Het
Lcor T C 19: 41,547,520 (GRCm39) V368A possibly damaging Het
Lmna C A 3: 88,393,928 (GRCm39) E217* probably null Het
Lrp1b C T 2: 41,231,894 (GRCm39) G337E probably benign Het
Maf1 A G 15: 76,236,312 (GRCm39) probably benign Het
Magi1 T C 6: 93,722,571 (GRCm39) I436V probably damaging Het
Muc4 C T 16: 32,596,157 (GRCm39) T3123I possibly damaging Het
Muc5b T A 7: 141,417,042 (GRCm39) H3329Q probably benign Het
Noa1 C T 5: 77,457,593 (GRCm39) R104Q probably benign Het
Odc1 T G 12: 17,599,473 (GRCm39) S267A probably benign Het
Or5p60 T A 7: 107,724,369 (GRCm39) I34F probably benign Het
Pam A G 1: 97,762,193 (GRCm39) Y691H probably damaging Het
Pamr1 T C 2: 102,441,953 (GRCm39) Y181H probably damaging Het
Pcdhga2 T A 18: 37,802,612 (GRCm39) I152N probably damaging Het
Pigt C T 2: 164,348,365 (GRCm39) Q437* probably null Het
Prx T C 7: 27,215,973 (GRCm39) L158P probably damaging Het
Ptprh T A 7: 4,600,922 (GRCm39) T152S probably benign Het
Pum1 G A 4: 130,457,591 (GRCm39) R201H probably damaging Het
Rad51ap2 T C 12: 11,507,290 (GRCm39) I404T probably benign Het
Radil C T 5: 142,529,399 (GRCm39) R99H probably damaging Het
Rc3h2 C T 2: 37,268,899 (GRCm39) V856I possibly damaging Het
Slx4ip T A 2: 136,888,664 (GRCm39) V115E probably damaging Het
Snx3 C A 10: 42,402,042 (GRCm39) S85R probably benign Het
Sppl2c A T 11: 104,077,963 (GRCm39) E254D probably benign Het
Srms C A 2: 180,849,780 (GRCm39) E237* probably null Het
Tenm1 C T X: 41,916,072 (GRCm39) G404E probably damaging Het
Trank1 T C 9: 111,220,805 (GRCm39) L2514P probably damaging Het
Trib1 C T 15: 59,523,487 (GRCm39) R174* probably null Het
Vmn2r60 A T 7: 41,844,847 (GRCm39) I737F probably damaging Het
Zfp600 A T 4: 146,131,701 (GRCm39) H123L probably benign Het
Zfp646 G T 7: 127,478,190 (GRCm39) R122S possibly damaging Het
Znfx1 A G 2: 166,880,126 (GRCm39) Y553H probably benign 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
R6025:Usp4 UTSW 9 108,237,322 (GRCm39) missense possibly damaging 0.70
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'- AGCCAGTGACAGTGTTTTGG -3'
(R):5'- AACATTACAAAGTCTCACCTGCTTC -3'

Sequencing Primer
(F):5'- CCAGTGACAGTGTTTTGGAATATTG -3'
(R):5'- GCTTCATTTTCAACCATGTAACCG -3'
Posted On 2017-08-16