Incidental Mutation 'IGL03309:Clpx'
ID416481
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clpx
Ensembl Gene ENSMUSG00000015357
Gene Namecaseinolytic mitochondrial matrix peptidase chaperone subunit
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03309
Quality Score
Status
Chromosome9
Chromosomal Location65294260-65330658 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 65322692 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Arginine at position 474 (L474R)
Ref Sequence ENSEMBL: ENSMUSP00000109455 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015501] [ENSMUST00000113824] [ENSMUST00000147279]
Predicted Effect probably damaging
Transcript: ENSMUST00000015501
AA Change: L488R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000015501
Gene: ENSMUSG00000015357
AA Change: L488R

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 damaging
Transcript: ENSMUST00000113824
AA Change: L474R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109455
Gene: ENSMUSG00000015357
AA Change: L474R

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
Predicted Effect probably benign
Transcript: ENSMUST00000147279
SMART Domains Protein: ENSMUSP00000116377
Gene: ENSMUSG00000015357

DomainStartEndE-ValueType
low complexity region 73 82 N/A INTRINSIC
AAA 100 192 1.89e-3 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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac A G 3: 60,039,882 T334A possibly damaging Het
Armc9 A G 1: 86,274,433 E771G possibly damaging Het
Cd207 G T 6: 83,677,753 T16K possibly damaging Het
Cd44 C T 2: 102,814,177 E421K probably damaging Het
Cfap221 A G 1: 119,934,601 Y584H probably damaging Het
Clock A G 5: 76,231,394 probably null Het
Cntd1 T C 11: 101,284,764 V143A probably damaging Het
Cttnbp2 A G 6: 18,381,036 V877A probably damaging Het
Dlx6 G T 6: 6,867,289 M158I possibly damaging Het
Fank1 A G 7: 133,862,173 T33A probably damaging Het
Fbf1 A G 11: 116,147,811 L828P probably damaging Het
Fh1 A T 1: 175,604,043 S426T probably benign Het
Gabrg3 G T 7: 56,982,685 Q172K probably damaging Het
Glipr1l1 A G 10: 112,072,236 probably benign Het
Hypk T A 2: 121,458,192 L113* probably null Het
Hypk G T 2: 121,458,193 L113F probably damaging Het
Ipo5 G A 14: 120,920,004 V85I probably benign Het
Kif1a A T 1: 93,058,857 Y575* probably null Het
Morf4l1 T A 9: 90,103,745 E60V probably benign Het
Olfr655 A G 7: 104,597,041 F47L probably benign Het
Olfr782 A T 10: 129,351,309 T249S probably benign Het
Parp4 A T 14: 56,587,808 T130S probably benign Het
Prkd1 A G 12: 50,388,424 Y507H probably damaging Het
Psme2b A C 11: 48,945,799 probably null Het
Rbm44 T C 1: 91,168,840 probably null Het
Rngtt C A 4: 33,339,091 R299S probably damaging Het
Ros1 A G 10: 52,118,261 S1308P possibly damaging Het
Rpl3l A G 17: 24,736,024 K398E possibly damaging Het
Scube3 C T 17: 28,164,357 R374* probably null Het
Srcap A G 7: 127,530,793 T616A probably damaging Het
Stk3 G A 15: 35,099,551 probably benign Het
Tas2r124 A T 6: 132,754,935 D69V probably benign Het
Zbtb41 T A 1: 139,432,078 probably null Het
Other mutations in Clpx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00955:Clpx APN 9 65324270 missense probably damaging 1.00
IGL01394:Clpx APN 9 65310213 missense probably damaging 1.00
IGL01395:Clpx APN 9 65301851 missense probably benign 0.00
IGL01521:Clpx APN 9 65318744 missense probably damaging 1.00
IGL02141:Clpx APN 9 65312118 splice site probably null
IGL02512:Clpx APN 9 65310251 missense probably benign
IGL03008:Clpx APN 9 65322775 missense possibly damaging 0.76
IGL03146:Clpx APN 9 65326830 missense probably benign 0.01
IGL03152:Clpx APN 9 65310176 missense possibly damaging 0.56
kneehigh UTSW 9 65301879 nonsense probably null
locust UTSW 9 65324301 critical splice donor site probably null
IGL02837:Clpx UTSW 9 65324259 missense probably damaging 1.00
R0167:Clpx UTSW 9 65316737 missense possibly damaging 0.53
R0399:Clpx UTSW 9 65322769 missense probably benign 0.03
R0666:Clpx UTSW 9 65310225 missense probably damaging 1.00
R1386:Clpx UTSW 9 65326888 missense probably null 0.88
R1594:Clpx UTSW 9 65324270 missense probably damaging 0.99
R2038:Clpx UTSW 9 65317493 missense probably damaging 1.00
R4131:Clpx UTSW 9 65316655 missense possibly damaging 0.64
R4715:Clpx UTSW 9 65312114 missense possibly damaging 0.92
R5107:Clpx UTSW 9 65308539 missense possibly damaging 0.93
R5248:Clpx UTSW 9 65320850 missense probably damaging 1.00
R5520:Clpx UTSW 9 65317448 nonsense probably null
R5639:Clpx UTSW 9 65329830 missense probably benign 0.00
R5718:Clpx UTSW 9 65299964 missense probably benign
R6109:Clpx UTSW 9 65299952 missense probably benign 0.02
R6172:Clpx UTSW 9 65301879 nonsense probably null
R6173:Clpx UTSW 9 65301879 nonsense probably null
R6748:Clpx UTSW 9 65310159 missense probably benign 0.00
R7287:Clpx UTSW 9 65300013 nonsense probably null
R7409:Clpx UTSW 9 65324247 missense possibly damaging 0.94
R7806:Clpx UTSW 9 65299931 missense probably benign
R7814:Clpx UTSW 9 65324301 critical splice donor site probably null
R8212:Clpx UTSW 9 65320891 missense possibly damaging 0.46
R8753:Clpx UTSW 9 65316676 missense probably damaging 1.00
X0067:Clpx UTSW 9 65316695 missense possibly damaging 0.86
Z1177:Clpx UTSW 9 65299997 nonsense probably null
Posted On2016-08-02