Incidental Mutation 'R0014:Psma8'
ID7950
Institutional Source Beutler Lab
Gene Symbol Psma8
Ensembl Gene ENSMUSG00000036743
Gene Nameproteasome (prosome, macropain) subunit, alpha type, 8
Synonyms2410072D24Rik
MMRRC Submission 038309-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.169) question?
Stock #R0014 (G1)
Quality Score
Status Validated
Chromosome18
Chromosomal Location14706151-14762299 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 14726530 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 86 (I86V)
Ref Sequence ENSEMBL: ENSMUSP00000042590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040860]
Predicted Effect possibly damaging
Transcript: ENSMUST00000040860
AA Change: I86V

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000042590
Gene: ENSMUSG00000036743
AA Change: I86V

DomainStartEndE-ValueType
Proteasome_A_N 5 27 1.84e-9 SMART
Pfam:Proteasome 28 213 3.3e-66 PFAM
low complexity region 226 237 N/A INTRINSIC
Meta Mutation Damage Score 0.0957 question?
Coding Region Coverage
  • 1x: 75.1%
  • 3x: 61.1%
  • 10x: 30.7%
  • 20x: 14.1%
Validation Efficiency 90% (62/69)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130409I23Rik T C 1: 181,055,131 F153L possibly damaging Het
Adam17 C T 12: 21,336,644 E445K probably benign Het
Als2 A G 1: 59,211,388 V399A possibly damaging Het
Ankrd52 C A 10: 128,386,452 T583K probably benign Het
Ccr5 T C 9: 124,124,621 F87S probably damaging Het
Clcc1 T A 3: 108,661,396 C10* probably null Het
Cngb3 T C 4: 19,396,685 I346T probably benign Het
Dmbx1 G T 4: 115,918,024 T358K probably damaging Het
Dpyd T C 3: 119,141,935 S670P probably damaging Het
Epc2 A T 2: 49,522,525 K172* probably null Het
Exog T C 9: 119,452,278 I218T probably damaging Het
F2rl2 A T 13: 95,700,909 N154I probably damaging Het
Fbxo30 T A 10: 11,289,859 Y108* probably null Het
Fhad1 A T 4: 141,928,408 L795Q probably damaging Het
Fyttd1 G A 16: 32,905,554 R175Q probably damaging Het
Gbp5 T A 3: 142,506,735 C395S probably damaging Het
Gen1 T C 12: 11,241,641 N716D probably benign Het
Gucy1b1 T C 3: 82,039,861 D347G probably damaging Het
Helz2 A G 2: 181,240,511 L163P probably damaging Het
Hmox2 T A 16: 4,765,033 L210Q probably damaging Het
Khdrbs3 A G 15: 69,024,835 T115A probably benign Het
Lrrk2 T C 15: 91,802,045 probably benign Het
Ncoa6 A C 2: 155,438,043 S18A possibly damaging Het
Neb G A 2: 52,287,156 A1391V probably damaging Het
Nek6 T C 2: 38,558,844 probably benign Het
Pclo C T 5: 14,680,451 probably benign Het
Pex1 G A 5: 3,626,141 probably benign Het
Pi4kb T G 3: 94,998,897 I612S probably damaging Het
Pitx2 T G 3: 129,218,499 S193A possibly damaging Het
Slc7a2 T C 8: 40,911,028 L426P probably damaging Het
Tut1 T A 19: 8,962,447 L265Q possibly damaging Het
Wdr63 T C 3: 146,081,423 probably null Het
Zfp458 A G 13: 67,258,090 V95A possibly damaging Het
Other mutations in Psma8
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0014:Psma8 UTSW 18 14726530 missense possibly damaging 0.84
R1975:Psma8 UTSW 18 14730976 splice site probably null
R3971:Psma8 UTSW 18 14757387 missense possibly damaging 0.56
R4280:Psma8 UTSW 18 14721235 missense probably benign 0.00
R4424:Psma8 UTSW 18 14721190 missense probably damaging 0.99
R4466:Psma8 UTSW 18 14721174 missense possibly damaging 0.74
R6258:Psma8 UTSW 18 14721267 missense probably damaging 1.00
R6260:Psma8 UTSW 18 14721267 missense probably damaging 1.00
Posted On2012-11-20