Incidental Mutation 'IGL03146:Clpx'
ID 410900
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clpx
Ensembl Gene ENSMUSG00000015357
Gene Name caseinolytic mitochondrial matrix peptidase chaperone subunit
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03146
Quality Score
Status
Chromosome 9
Chromosomal Location 65201542-65237940 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 65234112 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 572 (V572L)
Ref Sequence ENSEMBL: ENSMUSP00000109455 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015501] [ENSMUST00000113824]
AlphaFold Q9JHS4
Predicted Effect probably benign
Transcript: ENSMUST00000015501
AA Change: V586L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000015501
Gene: ENSMUSG00000015357
AA Change: V586L

DomainStartEndE-ValueType
low complexity region 4 24 N/A INTRINSIC
low complexity region 81 101 N/A INTRINSIC
low complexity region 165 172 N/A INTRINSIC
PDB:4I9K|B 173 209 6e-7 PDB
low complexity region 259 268 N/A INTRINSIC
AAA 286 437 1.64e-12 SMART
low complexity region 452 458 N/A INTRINSIC
ClpB_D2-small 510 604 1.16e-29 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113824
AA Change: V572L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000109455
Gene: ENSMUSG00000015357
AA Change: V572L

DomainStartEndE-ValueType
low complexity region 4 24 N/A INTRINSIC
low complexity region 81 101 N/A INTRINSIC
low complexity region 165 172 N/A INTRINSIC
low complexity region 245 254 N/A INTRINSIC
AAA 272 423 1.64e-12 SMART
low complexity region 438 444 N/A INTRINSIC
ClpB_D2-small 496 590 1.16e-29 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of a protease found in mitochondria. This protease is ATP-dependent and targets specific proteins for degradation. The protease consists of two heptameric rings of the CLPP catalytic subunit sandwiched between two hexameric rings of the chaperone subunit encoded by this gene. Targeted proteins are unwound by this protein and then passed on to the CLPP subunit for degradation. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Nov 2015]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 T C 8: 25,294,519 (GRCm39) D360G probably damaging Het
Adam6a A T 12: 113,509,144 (GRCm39) T506S probably damaging Het
Adamts15 A G 9: 30,832,863 (GRCm39) V224A probably damaging Het
Arhgef12 G T 9: 42,885,866 (GRCm39) D1251E possibly damaging Het
Ccdc180 G T 4: 45,903,840 (GRCm39) probably benign Het
Ccdc85c G A 12: 108,173,395 (GRCm39) R387* probably null Het
Cfap57 T A 4: 118,456,216 (GRCm39) I493F probably damaging Het
Chst9 A G 18: 15,586,035 (GRCm39) I176T probably damaging Het
Csmd3 T A 15: 47,744,873 (GRCm39) N1374I probably benign Het
Cyp2e1 T A 7: 140,350,134 (GRCm39) M273K probably benign Het
Ehbp1l1 T C 19: 5,770,061 (GRCm39) E414G probably benign Het
Ehd1 T C 19: 6,327,368 (GRCm39) F122L probably damaging Het
Fcho1 A G 8: 72,170,074 (GRCm39) probably benign Het
Fermt3 T C 19: 6,980,631 (GRCm39) E312G possibly damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
G3bp2 G A 5: 92,214,399 (GRCm39) R132C probably damaging Het
Inpp4b A T 8: 82,470,410 (GRCm39) I35F possibly damaging Het
Izumo3 T G 4: 92,033,276 (GRCm39) I107L probably damaging Het
Lama3 C A 18: 12,660,681 (GRCm39) Q484K possibly damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Mapkbp1 T C 2: 119,828,955 (GRCm39) probably benign Het
Mast4 T C 13: 102,874,163 (GRCm39) N1735S probably benign Het
Or14a257 T C 7: 86,138,402 (GRCm39) D119G probably damaging Het
Or4c100 T A 2: 88,356,488 (GRCm39) M187K possibly damaging Het
Oxct1 T C 15: 4,130,630 (GRCm39) L374P probably damaging Het
Parp14 G A 16: 35,678,823 (GRCm39) Q382* probably null Het
Pax2 A G 19: 44,821,714 (GRCm39) probably benign Het
Prkaa1 T C 15: 5,198,122 (GRCm39) V146A probably damaging Het
Ptprb C T 10: 116,164,032 (GRCm39) A900V probably benign Het
Rgs6 A T 12: 83,099,312 (GRCm39) D130V probably damaging Het
Ryr1 C A 7: 28,793,457 (GRCm39) R1344L probably benign Het
Scgb1b12 C A 7: 32,033,969 (GRCm39) D76E possibly damaging Het
Sel1l3 T A 5: 53,311,585 (GRCm39) E633D probably benign Het
Slc1a7 T A 4: 107,850,189 (GRCm39) I100N probably damaging Het
Slc25a35 A G 11: 68,859,678 (GRCm39) K64E possibly damaging Het
Spmip4 A T 6: 50,550,853 (GRCm39) V532E probably damaging Het
Stil C A 4: 114,881,612 (GRCm39) Q719K probably damaging Het
Stim1 T A 7: 102,070,562 (GRCm39) L265Q probably damaging Het
Tmem191 A G 16: 17,095,246 (GRCm39) E169G probably damaging Het
Tmem255b T C 8: 13,504,174 (GRCm39) L101P probably damaging Het
Trgv3 C A 13: 19,427,337 (GRCm39) Y73* probably null Het
Zfyve26 G A 12: 79,330,846 (GRCm39) Q458* probably null Het
Other mutations in Clpx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00955:Clpx APN 9 65,231,552 (GRCm39) missense probably damaging 1.00
IGL01394:Clpx APN 9 65,217,495 (GRCm39) missense probably damaging 1.00
IGL01395:Clpx APN 9 65,209,133 (GRCm39) missense probably benign 0.00
IGL01521:Clpx APN 9 65,226,026 (GRCm39) missense probably damaging 1.00
IGL02141:Clpx APN 9 65,219,400 (GRCm39) splice site probably null
IGL02512:Clpx APN 9 65,217,533 (GRCm39) missense probably benign
IGL03008:Clpx APN 9 65,230,057 (GRCm39) missense possibly damaging 0.76
IGL03152:Clpx APN 9 65,217,458 (GRCm39) missense possibly damaging 0.56
IGL03309:Clpx APN 9 65,229,974 (GRCm39) missense probably damaging 1.00
kneehigh UTSW 9 65,209,161 (GRCm39) nonsense probably null
locust UTSW 9 65,231,583 (GRCm39) critical splice donor site probably null
IGL02837:Clpx UTSW 9 65,231,541 (GRCm39) missense probably damaging 1.00
R0167:Clpx UTSW 9 65,224,019 (GRCm39) missense possibly damaging 0.53
R0399:Clpx UTSW 9 65,230,051 (GRCm39) missense probably benign 0.03
R0666:Clpx UTSW 9 65,217,507 (GRCm39) missense probably damaging 1.00
R1386:Clpx UTSW 9 65,234,170 (GRCm39) missense probably null 0.88
R1594:Clpx UTSW 9 65,231,552 (GRCm39) missense probably damaging 0.99
R2038:Clpx UTSW 9 65,224,775 (GRCm39) missense probably damaging 1.00
R4131:Clpx UTSW 9 65,223,937 (GRCm39) missense possibly damaging 0.64
R4715:Clpx UTSW 9 65,219,396 (GRCm39) missense possibly damaging 0.92
R5107:Clpx UTSW 9 65,215,821 (GRCm39) missense possibly damaging 0.93
R5248:Clpx UTSW 9 65,228,132 (GRCm39) missense probably damaging 1.00
R5520:Clpx UTSW 9 65,224,730 (GRCm39) nonsense probably null
R5639:Clpx UTSW 9 65,237,112 (GRCm39) missense probably benign 0.00
R5718:Clpx UTSW 9 65,207,246 (GRCm39) missense probably benign
R6109:Clpx UTSW 9 65,207,234 (GRCm39) missense probably benign 0.02
R6172:Clpx UTSW 9 65,209,161 (GRCm39) nonsense probably null
R6173:Clpx UTSW 9 65,209,161 (GRCm39) nonsense probably null
R6748:Clpx UTSW 9 65,217,441 (GRCm39) missense probably benign 0.00
R7287:Clpx UTSW 9 65,207,295 (GRCm39) nonsense probably null
R7409:Clpx UTSW 9 65,231,529 (GRCm39) missense possibly damaging 0.94
R7806:Clpx UTSW 9 65,207,213 (GRCm39) missense probably benign
R7814:Clpx UTSW 9 65,231,583 (GRCm39) critical splice donor site probably null
R8212:Clpx UTSW 9 65,228,173 (GRCm39) missense possibly damaging 0.46
R8753:Clpx UTSW 9 65,223,958 (GRCm39) missense probably damaging 1.00
R8939:Clpx UTSW 9 65,231,519 (GRCm39) missense probably benign 0.00
R9023:Clpx UTSW 9 65,234,115 (GRCm39) missense probably null 0.00
X0067:Clpx UTSW 9 65,223,977 (GRCm39) missense possibly damaging 0.86
Z1177:Clpx UTSW 9 65,207,279 (GRCm39) nonsense probably null
Posted On 2016-08-02