Incidental Mutation 'IGL01374:Clpb'
ID 78635
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clpb
Ensembl Gene ENSMUSG00000001829
Gene Name ClpB caseinolytic peptidase B
Synonyms Skd3
Accession Numbers
Essential gene? Probably essential (E-score: 0.910) question?
Stock # IGL01374
Quality Score
Status
Chromosome 7
Chromosomal Location 101312958-101444667 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101422335 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 346 (V346A)
Ref Sequence ENSEMBL: ENSMUSP00000148062 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001884] [ENSMUST00000106998] [ENSMUST00000209579]
AlphaFold Q60649
Predicted Effect probably damaging
Transcript: ENSMUST00000001884
AA Change: V346A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001884
Gene: ENSMUSG00000001829
AA Change: V346A

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: V376A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102611
Gene: ENSMUSG00000001829
AA Change: V376A

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: ENSMUST00000136193
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150355
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150832
Predicted Effect probably damaging
Transcript: ENSMUST00000209579
AA Change: V346A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T C 7: 130,747,830 (GRCm39) H54R probably benign Het
Acsl6 T C 11: 54,229,245 (GRCm39) V359A probably damaging Het
Aldh3a2 C T 11: 61,139,828 (GRCm39) V435I probably benign Het
Atm A T 9: 53,443,024 (GRCm39) S80T possibly damaging Het
Atp8b4 A T 2: 126,225,577 (GRCm39) probably benign Het
Atxn1 T C 13: 45,721,903 (GRCm39) probably benign Het
Chd3 T C 11: 69,250,806 (GRCm39) E641G probably damaging Het
Ctnnbl1 T A 2: 157,678,613 (GRCm39) probably null Het
Cyp2b19 C T 7: 26,458,504 (GRCm39) P73L probably benign Het
Dcc T C 18: 71,507,624 (GRCm39) Y916C probably damaging Het
Fat4 A G 3: 38,941,647 (GRCm39) N180S probably damaging Het
Foxi1 A C 11: 34,157,984 (GRCm39) C14G probably damaging Het
Fut4 G T 9: 14,662,786 (GRCm39) F169L probably benign Het
Grip1 T C 10: 119,885,273 (GRCm39) S748P probably benign Het
Hnrnpr T C 4: 136,054,729 (GRCm39) probably benign Het
Ifnz G A 4: 88,701,578 (GRCm39) probably benign Het
Krt28 A G 11: 99,262,294 (GRCm39) V232A probably benign Het
Lyar C A 5: 38,385,391 (GRCm39) probably null Het
Manba G A 3: 135,260,541 (GRCm39) W575* probably null Het
Morc3 T A 16: 93,641,101 (GRCm39) D44E probably damaging Het
Mrc2 T A 11: 105,238,469 (GRCm39) Y1205* probably null Het
Myh2 A T 11: 67,068,250 (GRCm39) T293S probably benign Het
Nlrp10 T A 7: 108,523,788 (GRCm39) K564I possibly damaging Het
Nuak1 A G 10: 84,210,532 (GRCm39) S519P probably damaging Het
Or12k5 T C 2: 36,894,942 (GRCm39) H228R probably benign Het
Or9m2 T C 2: 87,820,892 (GRCm39) F146L probably benign Het
Padi2 T A 4: 140,660,496 (GRCm39) N325K probably damaging Het
Pcdhb19 A T 18: 37,631,042 (GRCm39) Y279F probably damaging Het
Phldb1 A G 9: 44,607,464 (GRCm39) L1247P probably damaging Het
Rmdn3 A G 2: 118,984,428 (GRCm39) V108A probably damaging Het
Slc22a5 A G 11: 53,758,490 (GRCm39) F437L probably benign Het
Slc3a2 C T 19: 8,690,701 (GRCm39) probably null Het
Slc5a3 T A 16: 91,874,006 (GRCm39) M21K probably benign Het
Spink5 T A 18: 44,122,471 (GRCm39) F312Y possibly damaging Het
Stab1 T C 14: 30,869,032 (GRCm39) Y1531C probably damaging Het
Tln2 C A 9: 67,169,205 (GRCm39) A433S probably damaging Het
Usp24 C T 4: 106,237,296 (GRCm39) L1076F possibly damaging Het
Vmn2r117 T C 17: 23,697,356 (GRCm39) Y112C possibly damaging Het
Vmn2r16 C T 5: 109,478,283 (GRCm39) L13F probably benign Het
Vmn2r76 T C 7: 85,874,857 (GRCm39) M707V probably benign Het
Zmym4 A T 4: 126,762,750 (GRCm39) F1358I probably damaging Het
Other mutations in Clpb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Clpb APN 7 101,436,952 (GRCm39) missense probably benign
IGL00778:Clpb APN 7 101,427,815 (GRCm39) nonsense probably null
IGL00780:Clpb APN 7 101,427,815 (GRCm39) nonsense probably null
IGL00951:Clpb APN 7 101,400,467 (GRCm39) missense probably benign 0.00
IGL01542:Clpb APN 7 101,436,712 (GRCm39) missense probably damaging 0.98
IGL02203:Clpb APN 7 101,428,544 (GRCm39) missense probably damaging 1.00
IGL02989:Clpb APN 7 101,428,427 (GRCm39) missense probably damaging 1.00
IGL03088:Clpb APN 7 101,434,656 (GRCm39) nonsense probably null
Surfeit UTSW 7 101,360,672 (GRCm39) missense probably damaging 1.00
PIT1430001:Clpb UTSW 7 101,435,926 (GRCm39) missense possibly damaging 0.95
PIT4486001:Clpb UTSW 7 101,313,139 (GRCm39) missense probably benign 0.17
R0611:Clpb UTSW 7 101,436,956 (GRCm39) missense possibly damaging 0.71
R1565:Clpb UTSW 7 101,434,668 (GRCm39) missense probably benign 0.00
R1760:Clpb UTSW 7 101,435,905 (GRCm39) missense possibly damaging 0.92
R1879:Clpb UTSW 7 101,355,690 (GRCm39) missense probably benign 0.23
R1933:Clpb UTSW 7 101,428,418 (GRCm39) missense probably damaging 0.96
R1938:Clpb UTSW 7 101,412,863 (GRCm39) missense probably damaging 1.00
R2922:Clpb UTSW 7 101,372,035 (GRCm39) missense probably benign 0.02
R2923:Clpb UTSW 7 101,372,035 (GRCm39) missense probably benign 0.02
R2995:Clpb UTSW 7 101,428,531 (GRCm39) missense probably damaging 1.00
R4492:Clpb UTSW 7 101,436,929 (GRCm39) missense probably damaging 1.00
R5384:Clpb UTSW 7 101,428,548 (GRCm39) missense probably damaging 1.00
R5973:Clpb UTSW 7 101,313,204 (GRCm39) missense probably benign 0.02
R6787:Clpb UTSW 7 101,312,866 (GRCm39) unclassified probably benign
R7158:Clpb UTSW 7 101,313,039 (GRCm39) missense probably benign 0.45
R7225:Clpb UTSW 7 101,360,672 (GRCm39) missense probably damaging 1.00
R7239:Clpb UTSW 7 101,360,662 (GRCm39) missense probably damaging 0.96
R7482:Clpb UTSW 7 101,435,926 (GRCm39) missense possibly damaging 0.95
R7499:Clpb UTSW 7 101,371,935 (GRCm39) missense possibly damaging 0.92
R7547:Clpb UTSW 7 101,313,503 (GRCm39) splice site probably null
R7769:Clpb UTSW 7 101,371,924 (GRCm39) missense probably damaging 0.96
R8279:Clpb UTSW 7 101,355,695 (GRCm39) missense possibly damaging 0.79
R9376:Clpb UTSW 7 101,360,625 (GRCm39) missense probably benign 0.01
R9501:Clpb UTSW 7 101,427,780 (GRCm39) missense probably damaging 1.00
R9623:Clpb UTSW 7 101,313,399 (GRCm39) missense possibly damaging 0.72
R9631:Clpb UTSW 7 101,434,605 (GRCm39) missense possibly damaging 0.85
Posted On 2013-11-05