Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03146:Clpx'

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

Chromosomal Location

65294260-65330658 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 65326830 bp (GRCm38)

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921507P07Rik	A	T	6: 50,573,873	V532E	probably damaging	Het
Adam5	T	C	8: 24,804,503	D360G	probably damaging	Het
Adam6a	A	T	12: 113,545,524	T506S	probably damaging	Het
Adamts15	A	G	9: 30,921,567	V224A	probably damaging	Het
Arhgef12	G	T	9: 42,974,570	D1251E	possibly damaging	Het
Ccdc180	G	T	4: 45,903,840		probably benign	Het
Ccdc85c	G	A	12: 108,207,136	R387*	probably null	Het
Cfap57	T	A	4: 118,599,019	I493F	probably damaging	Het
Chst9	A	G	18: 15,452,978	I176T	probably damaging	Het
Csmd3	T	A	15: 47,881,477	N1374I	probably benign	Het
Cyp2e1	T	A	7: 140,770,221	M273K	probably benign	Het
Ehbp1l1	T	C	19: 5,720,033	E414G	probably benign	Het
Ehd1	T	C	19: 6,277,338	F122L	probably damaging	Het
Fcho1	A	G	8: 71,717,430		probably benign	Het
Fermt3	T	C	19: 7,003,263	E312G	possibly damaging	Het
Fut2	C	T	7: 45,650,769	G193E	possibly damaging	Het
G3bp2	G	A	5: 92,066,540	R132C	probably damaging	Het
Inpp4b	A	T	8: 81,743,781	I35F	possibly damaging	Het
Izumo3	T	G	4: 92,145,039	I107L	probably damaging	Het
Lama3	C	A	18: 12,527,624	Q484K	possibly damaging	Het
Lyl1	C	T	8: 84,702,671	P3L	possibly damaging	Het
Mapkbp1	T	C	2: 119,998,474		probably benign	Het
Mast4	T	C	13: 102,737,655	N1735S	probably benign	Het
Olfr1186	T	A	2: 88,526,144	M187K	possibly damaging	Het
Olfr298	T	C	7: 86,489,194	D119G	probably damaging	Het
Oxct1	T	C	15: 4,101,148	L374P	probably damaging	Het
Parp14	G	A	16: 35,858,453	Q382*	probably null	Het
Pax2	A	G	19: 44,833,275		probably benign	Het
Prkaa1	T	C	15: 5,168,641	V146A	probably damaging	Het
Ptprb	C	T	10: 116,328,127	A900V	probably benign	Het
Rgs6	A	T	12: 83,052,538	D130V	probably damaging	Het
Ryr1	C	A	7: 29,094,032	R1344L	probably benign	Het
Scgb1b12	C	A	7: 32,334,544	D76E	possibly damaging	Het
Sel1l3	T	A	5: 53,154,243	E633D	probably benign	Het
Slc1a7	T	A	4: 107,992,992	I100N	probably damaging	Het
Slc25a35	A	G	11: 68,968,852	K64E	possibly damaging	Het
Stil	C	A	4: 115,024,415	Q719K	probably damaging	Het
Stim1	T	A	7: 102,421,355	L265Q	probably damaging	Het
Tcrg-V3	C	A	13: 19,243,167	Y73*	probably null	Het
Tmem191c	A	G	16: 17,277,382	E169G	probably damaging	Het
Tmem255b	T	C	8: 13,454,174	L101P	probably damaging	Het
Zfyve26	G	A	12: 79,284,072	Q458*	probably null	Het

Other mutations in Clpx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL03152:Clpx	APN	9	65310176	missense	possibly damaging	0.56
IGL03309:Clpx	APN	9	65322692	missense	probably damaging	1.00
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
R8939:Clpx	UTSW	9	65324237	missense	probably benign	0.00
R9023:Clpx	UTSW	9	65326833	missense	probably null	0.00
X0067:Clpx	UTSW	9	65316695	missense	possibly damaging	0.86
Z1177:Clpx	UTSW	9	65299997	nonsense	probably null

Posted On

2016-08-02