Incidental Mutation 'IGL02141:Clpx'
ID 281558
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 # IGL02141
Quality Score
Status
Chromosome 9
Chromosomal Location 65201542-65237940 bp(+) (GRCm39)
Type of Mutation splice site (1807 bp from exon)
DNA Base Change (assembly) G to T at 65219400 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015501] [ENSMUST00000113824] [ENSMUST00000147279]
AlphaFold Q9JHS4
Predicted Effect probably null
Transcript: ENSMUST00000015501
AA Change: E233*
SMART Domains Protein: ENSMUSP00000015501
Gene: ENSMUSG00000015357
AA Change: E233*

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 null
Transcript: ENSMUST00000113824
SMART Domains Protein: ENSMUSP00000109455
Gene: ENSMUSG00000015357

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 null
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148632
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik C T 5: 146,120,275 (GRCm39) A188T probably benign Het
2310022B05Rik A T 8: 125,364,645 (GRCm39) probably benign Het
Atf6b C A 17: 34,872,251 (GRCm39) H539Q probably benign Het
Bmal2 T A 6: 146,729,593 (GRCm39) probably benign Het
Bpifb5 G T 2: 154,071,477 (GRCm39) probably null Het
Cep89 T A 7: 35,120,349 (GRCm39) M377K probably damaging Het
Cops5 T C 1: 10,105,342 (GRCm39) K47E probably damaging Het
Cryba2 T C 1: 74,931,943 (GRCm39) N35S probably benign Het
Ddx27 A G 2: 166,862,443 (GRCm39) K162E possibly damaging Het
Dhx36 A G 3: 62,401,310 (GRCm39) S319P probably benign Het
Dram2 A G 3: 106,479,012 (GRCm39) probably benign Het
Eci2 T A 13: 35,162,656 (GRCm39) T300S probably benign Het
Egf C A 3: 129,533,631 (GRCm39) G70* probably null Het
Eif5b T C 1: 38,071,403 (GRCm39) V444A probably benign Het
Elf3 T C 1: 135,185,445 (GRCm39) D23G possibly damaging Het
Epb41l4b A T 4: 57,103,422 (GRCm39) probably null Het
Fam167a T A 14: 63,689,708 (GRCm39) S2T probably benign Het
Flrt3 A G 2: 140,502,608 (GRCm39) V340A probably damaging Het
Gimap3 T C 6: 48,742,312 (GRCm39) E206G probably benign Het
Gp6 T C 7: 4,397,103 (GRCm39) probably benign Het
Gpr158 A T 2: 21,788,101 (GRCm39) M581L probably damaging Het
Hapln3 A G 7: 78,767,893 (GRCm39) V167A probably damaging Het
Hnrnpll G A 17: 80,358,142 (GRCm39) T203I probably benign Het
Ighv3-6 A G 12: 114,251,982 (GRCm39) I47T probably damaging Het
Iqgap1 G A 7: 80,387,869 (GRCm39) T926M probably damaging Het
Lonp1 A T 17: 56,922,086 (GRCm39) S765T probably benign Het
Lpp C T 16: 24,580,365 (GRCm39) S27F probably damaging Het
Lrit2 T C 14: 36,790,031 (GRCm39) probably benign Het
Luc7l C A 17: 26,472,054 (GRCm39) T17K probably damaging Het
Mmut A G 17: 41,249,708 (GRCm39) T228A possibly damaging Het
Mroh1 G T 15: 76,330,799 (GRCm39) S1161I possibly damaging Het
Muc5b T G 7: 141,407,104 (GRCm39) C1091G unknown Het
Nppb A T 4: 148,070,463 (GRCm39) I11F probably benign Het
Nsf A T 11: 103,719,351 (GRCm39) D650E probably benign Het
Ogdh A G 11: 6,305,015 (GRCm39) K907E probably damaging Het
Or1b1 G A 2: 36,995,437 (GRCm39) S75F probably benign Het
Or1j15 A G 2: 36,458,820 (GRCm39) D70G probably damaging Het
Or7a35 A G 10: 78,853,555 (GRCm39) Y133C probably damaging Het
Pcnx1 A T 12: 81,907,156 (GRCm39) Q4L possibly damaging Het
Pgc T A 17: 48,037,856 (GRCm39) L9H probably damaging Het
Pikfyve T A 1: 65,285,556 (GRCm39) S887T probably benign Het
Plec T C 15: 76,059,815 (GRCm39) D3239G probably damaging Het
Pole4 T C 6: 82,625,015 (GRCm39) T116A probably benign Het
Potegl T C 2: 23,120,212 (GRCm39) F203L probably damaging Het
Prpf8 A G 11: 75,381,498 (GRCm39) N300D possibly damaging Het
Rara T A 11: 98,858,907 (GRCm39) Y119N probably damaging Het
Rbck1 G T 2: 152,160,294 (GRCm39) R462S possibly damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Slfn2 C A 11: 82,960,670 (GRCm39) N216K probably benign Het
Suox A G 10: 128,507,967 (GRCm39) probably benign Het
Tars1 T A 15: 11,391,280 (GRCm39) Y283F probably damaging Het
Trpm4 A T 7: 44,967,603 (GRCm39) probably null Het
Ubtd2 A T 11: 32,449,262 (GRCm39) K36N probably benign Het
Unkl T C 17: 25,448,408 (GRCm39) L327P probably damaging Het
Vmn1r11 T A 6: 57,114,364 (GRCm39) Y9* probably null Het
Vps13b T C 15: 35,572,227 (GRCm39) V948A probably benign Het
Zbtb17 A G 4: 141,192,264 (GRCm39) H403R probably damaging 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
IGL02512:Clpx APN 9 65,217,533 (GRCm39) missense probably benign
IGL03008:Clpx APN 9 65,230,057 (GRCm39) missense possibly damaging 0.76
IGL03146:Clpx APN 9 65,234,112 (GRCm39) missense probably benign 0.01
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 2015-04-16