Incidental Mutation 'R5556:Usp3'
ID 435398
Institutional Source Beutler Lab
Gene Symbol Usp3
Ensembl Gene ENSMUSG00000032376
Gene Name ubiquitin specific peptidase 3
Synonyms
MMRRC Submission 043113-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.369) question?
Stock # R5556 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 66421919-66500424 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 66451303 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 153 (T153M)
Ref Sequence ENSEMBL: ENSMUSP00000096213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098613] [ENSMUST00000127569] [ENSMUST00000139547] [ENSMUST00000174387]
AlphaFold Q91W36
Predicted Effect noncoding transcript
Transcript: ENSMUST00000034940
Predicted Effect possibly damaging
Transcript: ENSMUST00000098613
AA Change: T153M

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000096213
Gene: ENSMUSG00000032376
AA Change: T153M

DomainStartEndE-ValueType
Pfam:zf-UBP 29 107 6.6e-23 PFAM
low complexity region 135 150 N/A INTRINSIC
Pfam:UCH 158 188 1.1e-8 PFAM
Pfam:UCH 178 470 4.2e-54 PFAM
Pfam:UCH_1 193 452 3.4e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124519
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124694
Predicted Effect possibly damaging
Transcript: ENSMUST00000127569
AA Change: T153M

PolyPhen 2 Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000122199
Gene: ENSMUSG00000032376
AA Change: T153M

DomainStartEndE-ValueType
Pfam:zf-UBP 29 107 1.2e-22 PFAM
low complexity region 135 150 N/A INTRINSIC
Pfam:UCH 158 508 2.5e-61 PFAM
Pfam:UCH_1 206 490 2e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139547
Predicted Effect possibly damaging
Transcript: ENSMUST00000174387
AA Change: T109M

PolyPhen 2 Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000134472
Gene: ENSMUSG00000032376
AA Change: T109M

DomainStartEndE-ValueType
Pfam:zf-UBP 29 142 1.6e-7 PFAM
Pfam:UCH 114 464 9.9e-69 PFAM
Pfam:UCH_1 115 446 2e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139952
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a chromatin-associated histone 2A and 2B deubiquitinating enzyme that negatively regulates the DNA damage response. Mice deficient for this enzyme have reduced hematopoietic stem cell reserves, demonstrating a requirement in hematopoietic stem cell homeostasis. In addition, knock down of protein levels results in spontaneous tumor development and shortened lifespan, consistent with a function in preserving chromosomal integrity. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T A 11: 72,066,026 (GRCm39) probably null Het
Abca13 A T 11: 9,208,546 (GRCm39) I240F possibly damaging Het
Accs A G 2: 93,666,428 (GRCm39) Y420H probably damaging Het
Aco2 T C 15: 81,773,520 (GRCm39) Y20H probably damaging Het
Adck2 T C 6: 39,560,869 (GRCm39) V419A probably benign Het
Bahd1 T A 2: 118,746,751 (GRCm39) N123K probably damaging Het
Cast A G 13: 74,844,008 (GRCm39) probably null Het
Cd164l2 T A 4: 132,951,016 (GRCm39) V157E probably damaging Het
Cdk11b C T 4: 155,718,604 (GRCm39) Q185* probably null Het
Ces2g T C 8: 105,694,074 (GRCm39) F470S probably benign Het
Cherp C G 8: 73,221,824 (GRCm39) Q313H probably damaging Het
Chrna4 A G 2: 180,675,773 (GRCm39) V110A possibly damaging Het
Cndp2 A G 18: 84,690,249 (GRCm39) V231A probably benign Het
Cst7 A T 2: 150,412,488 (GRCm39) H17L probably benign Het
Decr1 C T 4: 15,919,244 (GRCm39) D300N probably damaging Het
Dennd4b G A 3: 90,175,675 (GRCm39) R148Q probably damaging Het
Dgkb T G 12: 38,177,363 (GRCm39) V230G probably damaging Het
Dis3l2 T C 1: 86,901,126 (GRCm39) V439A possibly damaging Het
Disp3 C T 4: 148,342,614 (GRCm39) G612D probably benign Het
Dock7 T C 4: 98,832,972 (GRCm39) T1962A probably damaging Het
Entrep2 A G 7: 64,505,957 (GRCm39) F96S probably damaging Het
Fibp T A 19: 5,514,227 (GRCm39) V304E possibly damaging Het
Flt3 T A 5: 147,269,807 (GRCm39) probably null Het
Kifc3 G A 8: 95,835,087 (GRCm39) Q233* probably null Het
Klhl42 C A 6: 147,009,610 (GRCm39) S483Y probably benign Het
Map3k19 G A 1: 127,762,284 (GRCm39) R276* probably null Het
Mecom A G 3: 30,292,249 (GRCm39) S87P probably damaging Het
Med13 A G 11: 86,218,664 (GRCm39) V416A probably benign Het
Mepe G A 5: 104,486,078 (GRCm39) G406D probably damaging Het
Met T G 6: 17,534,175 (GRCm39) L673V probably benign Het
Mlh3 A T 12: 85,315,267 (GRCm39) Y306* probably null Het
Nrxn2 C A 19: 6,540,121 (GRCm39) A814E probably damaging Het
Nsmaf C T 4: 6,398,621 (GRCm39) V828I probably benign Het
Or2j3 T A 17: 38,615,964 (GRCm39) K129N possibly damaging Het
Or9r7 A T 10: 129,962,728 (GRCm39) L66H probably damaging Het
Panx1 A G 9: 14,918,929 (GRCm39) I310T possibly damaging Het
Pcare T C 17: 72,059,420 (GRCm39) K86E possibly damaging Het
Pcdhb6 T A 18: 37,467,442 (GRCm39) L121Q probably damaging Het
Plekha7 G A 7: 115,763,384 (GRCm39) T406I probably benign Het
Prtg T C 9: 72,758,986 (GRCm39) S447P probably damaging Het
Ptprr A G 10: 116,087,054 (GRCm39) Y267C probably damaging Het
Rbpjl A G 2: 164,249,982 (GRCm39) T134A probably benign Het
Relch C A 1: 105,620,892 (GRCm39) Q456K probably benign Het
Rpe C A 1: 66,745,625 (GRCm39) T55N probably damaging Het
Scn1a T C 2: 66,155,141 (GRCm39) D606G probably benign Het
Setd5 T A 6: 113,124,463 (GRCm39) N1105K probably benign Het
Sh3d21 T C 4: 126,056,029 (GRCm39) N126D possibly damaging Het
Shank1 A G 7: 43,993,739 (GRCm39) probably benign Het
Srgap3 T A 6: 112,716,039 (GRCm39) D627V probably damaging Het
Tacc2 T A 7: 130,276,336 (GRCm39) S1796T probably damaging Het
Tmco3 G A 8: 13,344,870 (GRCm39) V217I probably damaging Het
Trgc4 A T 13: 19,536,477 (GRCm39) R178S unknown Het
Tspan10 A T 11: 120,335,541 (GRCm39) Y217F possibly damaging Het
Xdh G T 17: 74,204,759 (GRCm39) T1067K probably benign Het
Zfp334 T C 2: 165,222,504 (GRCm39) D513G probably benign Het
Other mutations in Usp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01636:Usp3 APN 9 66,469,834 (GRCm39) critical splice donor site probably null
IGL02951:Usp3 APN 9 66,449,832 (GRCm39) nonsense probably null
IGL03283:Usp3 APN 9 66,469,831 (GRCm39) splice site probably null
R0148:Usp3 UTSW 9 66,447,449 (GRCm39) missense possibly damaging 0.80
R0152:Usp3 UTSW 9 66,447,432 (GRCm39) missense probably damaging 0.97
R0184:Usp3 UTSW 9 66,469,863 (GRCm39) missense probably damaging 0.99
R0628:Usp3 UTSW 9 66,425,726 (GRCm39) missense probably benign 0.05
R1036:Usp3 UTSW 9 66,437,513 (GRCm39) splice site probably benign
R2251:Usp3 UTSW 9 66,469,860 (GRCm39) missense probably damaging 0.99
R2437:Usp3 UTSW 9 66,453,024 (GRCm39) critical splice donor site probably null
R3957:Usp3 UTSW 9 66,469,873 (GRCm39) missense probably benign 0.04
R4320:Usp3 UTSW 9 66,437,530 (GRCm39) missense possibly damaging 0.80
R4439:Usp3 UTSW 9 66,425,776 (GRCm39) missense probably benign 0.00
R4562:Usp3 UTSW 9 66,428,047 (GRCm39) intron probably benign
R4659:Usp3 UTSW 9 66,434,352 (GRCm39) splice site probably null
R4742:Usp3 UTSW 9 66,427,959 (GRCm39) missense probably damaging 1.00
R5134:Usp3 UTSW 9 66,449,814 (GRCm39) missense possibly damaging 0.82
R5242:Usp3 UTSW 9 66,434,432 (GRCm39) missense probably damaging 1.00
R6949:Usp3 UTSW 9 66,427,972 (GRCm39) missense probably benign 0.37
R7440:Usp3 UTSW 9 66,437,537 (GRCm39) missense probably benign 0.03
R7452:Usp3 UTSW 9 66,474,180 (GRCm39) missense probably benign 0.11
R7547:Usp3 UTSW 9 66,449,906 (GRCm39) missense possibly damaging 0.46
R9250:Usp3 UTSW 9 66,449,793 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TCTCTAATGAGGACAAAGCACC -3'
(R):5'- TTCTCACAGTCACTAAAATATCCGTGC -3'

Sequencing Primer
(F):5'- CACCGAAGCTAGAGTTAGAGGC -3'
(R):5'- TGCCCTCACATAGCCTAGAAAATTTG -3'
Posted On 2016-10-24