Incidental Mutation 'R6787:Clpb'
ID 532436
Institutional Source Beutler Lab
Gene Symbol Clpb
Ensembl Gene ENSMUSG00000001829
Gene Name ClpB caseinolytic peptidase B
Synonyms Skd3
MMRRC Submission 044901-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.910) question?
Stock # R6787 (G1)
Quality Score 102.008
Status Validated
Chromosome 7
Chromosomal Location 101312958-101444667 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 101312866 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148062 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001884] [ENSMUST00000106998] [ENSMUST00000123870] [ENSMUST00000209579]
AlphaFold Q60649
Predicted Effect probably benign
Transcript: ENSMUST00000001884
SMART Domains Protein: ENSMUSP00000001884
Gene: ENSMUSG00000001829

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 benign
Transcript: ENSMUST00000106998
SMART Domains Protein: ENSMUSP00000102611
Gene: ENSMUSG00000001829

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 probably benign
Transcript: ENSMUST00000123870
Predicted Effect probably benign
Transcript: ENSMUST00000209579
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
Validation Efficiency 96% (51/53)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik G A 12: 55,126,768 (GRCm39) T32I probably benign Het
4930486L24Rik T A 13: 61,000,922 (GRCm39) I205L probably benign Het
Aatk C T 11: 119,901,508 (GRCm39) V963M probably damaging Het
Adra1b C A 11: 43,726,242 (GRCm39) R225L probably damaging Het
Adrb1 T C 19: 56,711,021 (GRCm39) V73A probably damaging Het
Akt3 A T 1: 176,877,756 (GRCm39) Y337* probably null Het
BC035947 G T 1: 78,475,527 (GRCm39) P335Q possibly damaging Het
C2cd3 T C 7: 100,104,553 (GRCm39) F2189L probably benign Het
Capn9 A G 8: 125,342,924 (GRCm39) I635V probably benign Het
Cep55 T A 19: 38,046,374 (GRCm39) D42E probably benign Het
Cftr T A 6: 18,274,607 (GRCm39) Y878* probably null Het
Cpeb3 T C 19: 37,022,089 (GRCm39) I569V possibly damaging Het
Cpne6 A T 14: 55,752,701 (GRCm39) D297V probably damaging Het
Ddhd1 T C 14: 45,894,976 (GRCm39) T165A probably benign Het
Fam98b T C 2: 117,093,402 (GRCm39) probably null Het
Frem2 T C 3: 53,561,744 (GRCm39) N921S probably benign Het
Gbf1 T A 19: 46,260,211 (GRCm39) V1039E probably benign Het
Gmip A G 8: 70,266,436 (GRCm39) E212G probably damaging Het
Gpcpd1 C T 2: 132,379,758 (GRCm39) probably benign Het
Gtf2ird1 A T 5: 134,392,766 (GRCm39) N796K probably damaging Het
Hadhb T C 5: 30,360,247 (GRCm39) probably benign Het
Itga4 T A 2: 79,119,609 (GRCm39) S472T probably damaging Het
Kcna4 G A 2: 107,125,670 (GRCm39) E135K possibly damaging Het
Kmt2c G T 5: 25,480,737 (GRCm39) probably null Het
Lama1 T C 17: 68,091,020 (GRCm39) I1620T unknown Het
Lins1 A G 7: 66,363,902 (GRCm39) E594G probably benign Het
Lrrc38 T A 4: 143,096,364 (GRCm39) M225K probably benign Het
Mphosph9 A G 5: 124,399,090 (GRCm39) I975T probably damaging Het
Mrgprh T C 17: 13,095,874 (GRCm39) F38S probably benign Het
Myo1h G A 5: 114,458,714 (GRCm39) G150R probably damaging Het
Oas2 T G 5: 120,876,863 (GRCm39) I391L possibly damaging Het
Or4a70 T A 2: 89,324,378 (GRCm39) R93* probably null Het
Or5p72 T C 7: 108,021,889 (GRCm39) I37T possibly damaging Het
Or6c3b T A 10: 129,527,391 (GRCm39) D173V possibly damaging Het
Or7e178 T C 9: 20,247,221 (GRCm39) D14G probably benign Het
Pdcd5 T C 7: 35,342,063 (GRCm39) T182A probably damaging Het
Pdlim7 T C 13: 55,656,810 (GRCm39) D48G probably damaging Het
Polr3b A C 10: 84,464,489 (GRCm39) probably null Het
Psmd5 C T 2: 34,747,649 (GRCm39) probably null Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Homo
Sdhb T C 4: 140,703,501 (GRCm39) Y208H probably damaging Het
Serinc5 G A 13: 92,842,740 (GRCm39) V397I possibly damaging Het
Sik2 A T 9: 50,909,834 (GRCm39) M73K possibly damaging Het
Slc41a1 A G 1: 131,770,487 (GRCm39) probably null Het
Slco1a1 T C 6: 141,882,213 (GRCm39) I119V probably benign Het
Srd5a1 T C 13: 69,759,418 (GRCm39) probably benign Het
Stab2 T C 10: 86,754,948 (GRCm39) I1111V probably benign Het
Stxbp6 G T 12: 44,949,779 (GRCm39) probably null Het
Tbc1d19 A G 5: 53,992,591 (GRCm39) probably null Het
Tnxb A T 17: 34,929,710 (GRCm39) T2815S probably benign Het
Txnip T A 3: 96,467,623 (GRCm39) I363N probably damaging Het
Zfp442 A T 2: 150,251,499 (GRCm39) N134K possibly 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
IGL01374:Clpb APN 7 101,422,335 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TTCTGTGTTAATACAAATACGGGGC -3'
(R):5'- TTAACCCTAGGAAGAGCCGAG -3'

Sequencing Primer
(F):5'- TACAAATACGGGGCTCTGGAATCTTG -3'
(R):5'- GGCGTGGTTCTCCTCAACAC -3'
Posted On 2018-08-29