Incidental Mutation 'R9250:Usp3'
ID 701495
Institutional Source Beutler Lab
Gene Symbol Usp3
Ensembl Gene ENSMUSG00000032376
Gene Name ubiquitin specific peptidase 3
Synonyms
MMRRC Submission 068989-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.369) question?
Stock # R9250 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 66421919-66500424 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 66449793 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098613] [ENSMUST00000127569] [ENSMUST00000139547] [ENSMUST00000174387]
AlphaFold Q91W36
Predicted Effect probably benign
Transcript: ENSMUST00000098613
SMART Domains Protein: ENSMUSP00000096213
Gene: ENSMUSG00000032376

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 probably null
Transcript: ENSMUST00000127569
SMART Domains Protein: ENSMUSP00000122199
Gene: ENSMUSG00000032376

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 probably benign
Transcript: ENSMUST00000174387
SMART Domains Protein: ENSMUSP00000134472
Gene: ENSMUSG00000032376

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
Meta Mutation Damage Score 0.9498 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.0%
Validation Efficiency 98% (55/56)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C G 3: 137,772,389 (GRCm39) A526G probably damaging Het
AAdacl4fm3 A T 4: 144,442,011 (GRCm39) I80K probably benign Het
Ablim3 A G 18: 61,944,501 (GRCm39) L526P probably damaging Het
Aknad1 T C 3: 108,664,143 (GRCm39) S369P probably damaging Het
Aldh8a1 T C 10: 21,258,259 (GRCm39) S119P probably damaging Het
Brpf3 T C 17: 29,054,788 (GRCm39) I1110T probably damaging Het
Cdk12 T C 11: 98,101,398 (GRCm39) S419P probably benign Het
Cmklr1 G C 5: 113,752,043 (GRCm39) H319Q probably benign Het
Crim1 C T 17: 78,677,471 (GRCm39) H891Y probably benign Het
Dapp1 T C 3: 137,638,919 (GRCm39) E269G probably benign Het
Ddt T C 10: 75,609,063 (GRCm39) D32G probably benign Het
Dlg5 T C 14: 24,240,543 (GRCm39) D236G probably benign Het
Edem1 C A 6: 108,805,850 (GRCm39) D50E probably benign Het
Exoc5 A T 14: 49,256,915 (GRCm39) N490K probably damaging Het
Fam117a C A 11: 95,228,071 (GRCm39) D60E possibly damaging Het
Fam186a A G 15: 99,845,330 (GRCm39) S305P unknown Het
Fbxw21 A G 9: 108,972,846 (GRCm39) F363L probably benign Het
Fhl2 A G 1: 43,167,422 (GRCm39) C224R probably damaging Het
Gad1 T A 2: 70,409,543 (GRCm39) N211K probably damaging Het
Igdcc4 A G 9: 65,038,932 (GRCm39) T906A possibly damaging Het
Igkv3-5 T C 6: 70,640,758 (GRCm39) S80P probably benign Het
Igkv4-90 C A 6: 68,784,331 (GRCm39) G62* probably null Het
Il31ra A T 13: 112,669,508 (GRCm39) Y386N probably damaging Het
Kif13a G T 13: 46,928,909 (GRCm39) H1159N probably damaging Het
Kmt2a G A 9: 44,759,683 (GRCm39) S722F possibly damaging Het
Mipep T C 14: 61,028,358 (GRCm39) Y157H probably damaging Het
Mipol1 A G 12: 57,461,169 (GRCm39) E293G probably damaging Het
Mmp7 A T 9: 7,697,885 (GRCm39) probably benign Het
Mr1 A G 1: 155,013,325 (GRCm39) L84P probably damaging Het
Neb A G 2: 52,168,913 (GRCm39) V1874A possibly damaging Het
Nefm T C 14: 68,358,570 (GRCm39) probably benign Het
Nek1 T C 8: 61,465,151 (GRCm39) M80T probably damaging Het
Nubp2 A G 17: 25,103,373 (GRCm39) probably null Het
Or10ab4 C T 7: 107,655,014 (GRCm39) T275M probably damaging Het
Or5w11 T C 2: 87,459,278 (GRCm39) I41T probably benign Het
Or8b101 T A 9: 38,020,718 (GRCm39) C240* probably null Het
Ovch2 C A 7: 107,392,542 (GRCm39) R267L probably damaging Het
Pole A G 5: 110,447,687 (GRCm39) E741G possibly damaging Het
Ptprh T A 7: 4,576,289 (GRCm39) T324S probably benign Het
Pxk T A 14: 8,144,123 (GRCm38) H290Q probably damaging Het
Rab11fip3 G T 17: 26,237,219 (GRCm39) T5N unknown Het
Rp9 G A 9: 22,365,086 (GRCm39) Q124* probably null Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,121 (GRCm39) probably benign Het
Runx2 A G 17: 45,125,459 (GRCm39) L19P probably benign Het
Sf1 C T 19: 6,424,764 (GRCm39) P473L unknown Het
Slc9a2 C T 1: 40,806,987 (GRCm39) T758I probably benign Het
Spef1l C A 7: 139,556,395 (GRCm39) K197N probably benign Het
Tas2r105 T G 6: 131,663,951 (GRCm39) H159P probably benign Het
Tas2r120 T A 6: 132,633,954 (GRCm39) M12K probably benign Het
Thoc2l A G 5: 104,667,320 (GRCm39) Y614C probably benign Het
Trpv4 T C 5: 114,764,941 (GRCm39) Y691C probably damaging Het
Unc93a A G 17: 13,334,488 (GRCm39) V337A probably benign Het
Usp17le T G 7: 104,418,839 (GRCm39) Q101P probably damaging Het
Zfp445 T C 9: 122,681,092 (GRCm39) S950G possibly damaging Het
Zfp644 T G 5: 106,784,699 (GRCm39) D616A probably damaging Het
Zfp759 T G 13: 67,288,461 (GRCm39) C671G probably damaging Het
Zgrf1 G T 3: 127,379,797 (GRCm39) C1111F probably damaging Het
Zmym2 T A 14: 57,148,732 (GRCm39) S349T probably damaging 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
R5556:Usp3 UTSW 9 66,451,303 (GRCm39) missense possibly damaging 0.88
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
Predicted Primers PCR Primer
(F):5'- ATGCCTGCAAAGACTTGAGC -3'
(R):5'- TGTGTAATGAGACAAGTGACAGATC -3'

Sequencing Primer
(F):5'- CCTGCAAAGACTTGAGCAGTGC -3'
(R):5'- GTAACATTGAGCAGTTTTGC -3'
Posted On 2022-03-25