Incidental Mutation 'IGL01542:Clpb'
ID90195
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clpb
Ensembl Gene ENSMUSG00000001829
Gene NameClpB caseinolytic peptidase B
SynonymsSkd3
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.912) question?
Stock #IGL01542
Quality Score
Status
Chromosome7
Chromosomal Location101663633-101795506 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 101787505 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 596 (V596I)
Ref Sequence ENSEMBL: ENSMUSP00000148062 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001884] [ENSMUST00000106998] [ENSMUST00000209579]
Predicted Effect probably damaging
Transcript: ENSMUST00000001884
AA Change: V596I

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000001884
Gene: ENSMUSG00000001829
AA Change: V596I

DomainStartEndE-ValueType
ANK 133 162 2.03e-1 SMART
ANK 166 195 1.96e-3 SMART
ANK 235 264 6.65e-6 SMART
low complexity region 294 306 N/A INTRINSIC
AAA 343 497 6.36e-10 SMART
ClpB_D2-small 541 630 6.83e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106998
AA Change: V626I

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102611
Gene: ENSMUSG00000001829
AA Change: V626I

DomainStartEndE-ValueType
ANK 133 162 2.03e-1 SMART
ANK 166 195 1.96e-3 SMART
ANK 265 294 6.65e-6 SMART
low complexity region 324 336 N/A INTRINSIC
AAA 373 527 6.36e-10 SMART
ClpB_D2-small 571 660 6.83e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150355
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150832
Predicted Effect probably damaging
Transcript: ENSMUST00000209579
AA Change: V596I

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210465
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the ATP-ases associated with diverse cellular activities (AAA+) superfamily. Members of this superfamily form ring-shaped homo-hexamers and have highly conserved ATPase domains that are involved in various processes including DNA replication, protein degradation and reactivation of misfolded proteins. All members of this family hydrolyze ATP through their AAA+ domains and use the energy generated through ATP hydrolysis to exert mechanical force on their substrates. In addition to an AAA+ domain, the protein encoded by this gene contains a C-terminal D2 domain, which is characteristic of the AAA+ subfamily of Caseinolytic peptidases to which this protein belongs. It cooperates with Hsp70 in the disaggregation of protein aggregates. Allelic variants of this gene are associated with 3-methylglutaconic aciduria, which causes cataracts and neutropenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016C15Rik A G 1: 177,743,384 T95A possibly damaging Het
Arap3 G A 18: 37,990,836 R377C probably damaging Het
Arhgap20 A G 9: 51,838,887 M316V probably benign Het
Chd7 T G 4: 8,859,285 N2458K possibly damaging Het
Clock T C 5: 76,231,475 E538G possibly damaging Het
Col9a3 T C 2: 180,609,316 probably benign Het
D130043K22Rik G A 13: 24,876,037 probably null Het
Drd4 T C 7: 141,293,831 probably benign Het
Fam228b A T 12: 4,763,055 I105N probably damaging Het
Gm20939 A T 17: 94,874,293 probably benign Het
Gm4952 A G 19: 12,618,407 T54A possibly damaging Het
Hbs1l T C 10: 21,307,756 V132A probably benign Het
Kpna2 T A 11: 106,991,201 E266D probably benign Het
Lars T C 18: 42,214,827 E977G probably benign Het
Lrrn4 T C 2: 132,879,472 T142A probably benign Het
Myo19 T C 11: 84,909,546 L919P probably damaging Het
Nhlrc1 A T 13: 47,014,131 F217I probably damaging Het
Olfr1495 T C 19: 13,768,537 F65S probably damaging Het
Plch1 T C 3: 63,731,649 I468V probably damaging Het
Rergl T A 6: 139,493,498 probably null Het
Sctr A G 1: 120,044,769 probably benign Het
Sdhb T C 4: 140,972,967 V126A probably benign Het
Smad3 C T 9: 63,655,586 R214Q probably damaging Het
Tdrd9 T C 12: 112,046,989 M1219T possibly damaging Het
Tmem167b A T 3: 108,558,906 N75K possibly damaging Het
Vmn2r83 T C 10: 79,479,012 S365P probably benign Het
Vps16 T C 2: 130,438,394 F153L probably damaging Het
Other mutations in Clpb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Clpb APN 7 101787745 missense probably benign
IGL00778:Clpb APN 7 101778608 nonsense probably null
IGL00780:Clpb APN 7 101778608 nonsense probably null
IGL00951:Clpb APN 7 101751260 missense probably benign 0.00
IGL01374:Clpb APN 7 101773128 missense probably damaging 1.00
IGL02203:Clpb APN 7 101779337 missense probably damaging 1.00
IGL02989:Clpb APN 7 101779220 missense probably damaging 1.00
IGL03088:Clpb APN 7 101785449 nonsense probably null
Surfeit UTSW 7 101711465 missense probably damaging 1.00
PIT1430001:Clpb UTSW 7 101786719 missense possibly damaging 0.95
PIT4486001:Clpb UTSW 7 101663932 missense probably benign 0.17
R0611:Clpb UTSW 7 101787749 missense possibly damaging 0.71
R1565:Clpb UTSW 7 101785461 missense probably benign 0.00
R1760:Clpb UTSW 7 101786698 missense possibly damaging 0.92
R1879:Clpb UTSW 7 101706483 missense probably benign 0.23
R1933:Clpb UTSW 7 101779211 missense probably damaging 0.96
R1938:Clpb UTSW 7 101763656 missense probably damaging 1.00
R2922:Clpb UTSW 7 101722828 missense probably benign 0.02
R2923:Clpb UTSW 7 101722828 missense probably benign 0.02
R2995:Clpb UTSW 7 101779324 missense probably damaging 1.00
R4492:Clpb UTSW 7 101787722 missense probably damaging 1.00
R5384:Clpb UTSW 7 101779341 missense probably damaging 1.00
R5973:Clpb UTSW 7 101663997 missense probably benign 0.02
R6787:Clpb UTSW 7 101663659 unclassified probably benign
R7158:Clpb UTSW 7 101663832 missense probably benign 0.45
R7225:Clpb UTSW 7 101711465 missense probably damaging 1.00
R7239:Clpb UTSW 7 101711455 missense probably damaging 0.96
R7482:Clpb UTSW 7 101786719 missense possibly damaging 0.95
R7499:Clpb UTSW 7 101722728 missense possibly damaging 0.92
R7547:Clpb UTSW 7 101664296 splice site probably null
R7769:Clpb UTSW 7 101722717 missense probably damaging 0.96
R8279:Clpb UTSW 7 101706488 missense possibly damaging 0.79
Posted On2013-12-03