Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03008:Clpx'

407665

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 #

IGL03008

Quality Score

Status

Chromosome

Chromosomal Location

65201542-65237940 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 65230057 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 502 (V502I)

Ref Sequence

ENSEMBL: ENSMUSP00000109455 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015501] [ENSMUST00000113824] [ENSMUST00000147279]

AlphaFold

Q9JHS4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000015501
AA Change: V516I

PolyPhen 2 Score 0.636 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000015501
Gene: ENSMUSG00000015357
AA Change: V516I

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

possibly damaging
Transcript: ENSMUST00000113824
AA Change: V502I

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000109455
Gene: ENSMUSG00000015357
AA Change: V502I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000147279

SMART Domains

Protein: ENSMUSP00000116377
Gene: ENSMUSG00000015357

Domain	Start	End	E-Value	Type
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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aga	T	C	8: 53,964,861 (GRCm39)	S8P	probably benign	Het
Ankrd34c	C	T	9: 89,612,337 (GRCm39)	M1I	probably null	Het
Ankrd44	T	C	1: 54,805,968 (GRCm39)	H146R	probably damaging	Het
Bst1	A	G	5: 43,983,604 (GRCm39)		probably null	Het
Btbd8	T	G	5: 107,639,464 (GRCm39)		probably null	Het
Cdh12	A	T	15: 21,480,416 (GRCm39)	I211F	probably damaging	Het
Cenpj	G	T	14: 56,764,406 (GRCm39)	D1335E	probably benign	Het
Cntnap4	T	C	8: 113,500,222 (GRCm39)	S505P	probably benign	Het
Cog2	T	C	8: 125,262,131 (GRCm39)		probably benign	Het
Cped1	A	G	6: 22,233,601 (GRCm39)	Q819R	probably benign	Het
Cspg4	A	G	9: 56,805,759 (GRCm39)	E2190G	possibly damaging	Het
Ctsa	G	A	2: 164,679,368 (GRCm39)	R359Q	probably damaging	Het
Cul9	A	G	17: 46,813,623 (GRCm39)		probably benign	Het
Dab1	G	T	4: 104,584,777 (GRCm39)	V306F	probably damaging	Het
Dysf	A	G	6: 84,050,876 (GRCm39)	I438V	probably benign	Het
Eif4g3	G	T	4: 137,847,699 (GRCm39)	G380W	probably damaging	Het
Exd1	T	A	2: 119,350,862 (GRCm39)	K466N	probably benign	Het
Eya3	A	C	4: 132,434,294 (GRCm39)	D325A	probably damaging	Het
Fmn1	A	G	2: 113,195,445 (GRCm39)	T382A	unknown	Het
Fry	T	A	5: 150,269,021 (GRCm39)	D106E	possibly damaging	Het
Gm21957	T	A	7: 124,818,733 (GRCm39)		noncoding transcript	Het
Gm44511	A	G	6: 128,761,059 (GRCm39)		probably benign	Het
Itga4	A	G	2: 79,155,982 (GRCm39)	I983V	probably benign	Het
Lrpprc	A	T	17: 85,058,675 (GRCm39)	D5E	probably benign	Het
Lrrc37	T	C	11: 103,511,293 (GRCm39)	E225G	unknown	Het
Ltbp4	G	T	7: 27,023,789 (GRCm39)	N747K	probably damaging	Het
Minar1	A	G	9: 89,478,731 (GRCm39)	Y772H	probably damaging	Het
Mlh3	T	C	12: 85,287,625 (GRCm39)	Q1308R	probably benign	Het
Mtfr2	T	A	10: 20,229,185 (GRCm39)	C63S	possibly damaging	Het
Myh11	T	A	16: 14,022,617 (GRCm39)	M1661L	probably benign	Het
Myo1c	T	C	11: 75,549,240 (GRCm39)	M137T	probably benign	Het
Myocd	A	C	11: 65,078,392 (GRCm39)	L340V	probably damaging	Het
Napsa	A	T	7: 44,235,220 (GRCm39)	Q335L	possibly damaging	Het
Nlrp4b	C	A	7: 10,448,516 (GRCm39)	Q240K	probably benign	Het
Npepps	A	C	11: 97,128,984 (GRCm39)	F400C	probably damaging	Het
Nxpe4	A	T	9: 48,304,738 (GRCm39)	E275V	probably benign	Het
Ofd1	T	C	X: 165,192,530 (GRCm39)	D501G	probably benign	Het
Or13a19	T	C	7: 139,903,445 (GRCm39)	Y278H	probably damaging	Het
Or4f6	A	G	2: 111,838,868 (GRCm39)	I221T	possibly damaging	Het
Or5p79	T	G	7: 108,221,490 (GRCm39)	L157R	probably damaging	Het
Or8k41	A	T	2: 86,313,678 (GRCm39)	M136K	probably damaging	Het
P2ry1	A	T	3: 60,910,947 (GRCm39)	T29S	probably benign	Het
Papss1	T	C	3: 131,290,860 (GRCm39)	V201A	possibly damaging	Het
Paxip1	A	G	5: 27,957,764 (GRCm39)	V864A	probably benign	Het
Pcdhgc5	T	A	18: 37,954,887 (GRCm39)	H720Q	probably benign	Het
Pdxdc1	T	C	16: 13,694,023 (GRCm39)	N133S	possibly damaging	Het
Prkar1a	T	C	11: 109,544,690 (GRCm39)	I27T	probably damaging	Het
Rnf10	G	T	5: 115,389,355 (GRCm39)	H271N	possibly damaging	Het
Scn9a	A	G	2: 66,392,855 (GRCm39)	S246P	probably damaging	Het
Sertad2	G	T	11: 20,597,798 (GRCm39)		probably benign	Het
Slc22a27	A	G	19: 7,887,067 (GRCm39)	I274T	possibly damaging	Het
Slc22a5	A	T	11: 53,782,058 (GRCm39)	V103E	probably damaging	Het
Slc5a9	A	T	4: 111,748,138 (GRCm39)	F225I	probably benign	Het
Slc6a3	G	A	13: 73,706,404 (GRCm39)		probably null	Het
Smcr8	A	G	11: 60,669,287 (GRCm39)	E145G	probably damaging	Het
Spen	A	T	4: 141,203,448 (GRCm39)	D1726E	possibly damaging	Het
Sphkap	A	T	1: 83,254,552 (GRCm39)	S779T	probably damaging	Het
Stag1	A	T	9: 100,658,844 (GRCm39)	N144Y	probably damaging	Het
Strada	T	C	11: 106,061,783 (GRCm39)	H156R	probably damaging	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tas2r138	A	C	6: 40,590,116 (GRCm39)	D43E	probably damaging	Het
Tdpoz3	A	T	3: 93,733,642 (GRCm39)	K106*	probably null	Het
Trbv13-1	A	G	6: 41,093,229 (GRCm39)	D54G	probably damaging	Het
Ttc39b	A	G	4: 83,165,932 (GRCm39)	V218A	probably benign	Het
Ttn	G	A	2: 76,611,203 (GRCm39)	T15697I	probably damaging	Het
Ugt2b38	G	A	5: 87,560,282 (GRCm39)	T344I	probably benign	Het
Vmn2r94	T	C	17: 18,477,908 (GRCm39)	M168V	probably benign	Het
Wdr11	T	C	7: 129,208,715 (GRCm39)		probably benign	Het
Wipf2	T	C	11: 98,783,554 (GRCm39)		probably benign	Het
Zranb2	T	A	3: 157,252,302 (GRCm39)		probably null	Het

Other mutations in Clpx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

2016-08-02