Mutagenetix > Incidental Mutation

Incidental Mutation 'R0399:Clpx'

38060

Institutional Source

Beutler Lab

Gene Symbol

Clpx

Ensembl Gene

ENSMUSG00000015357

Gene Name

caseinolytic mitochondrial matrix peptidase chaperone subunit

Synonyms

MMRRC Submission

038604-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0399 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65201542-65237940 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65230051 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 514 (T514A)

Ref Sequence

ENSEMBL: ENSMUSP00000015501 (fasta)

Gene Model

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

AlphaFold

Q9JHS4

Predicted Effect

probably benign
Transcript: ENSMUST00000015501
AA Change: T514A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000015501
Gene: ENSMUSG00000015357
AA Change: T514A

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: T500A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000109455
Gene: ENSMUSG00000015357
AA Change: T500A

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

Meta Mutation Damage Score

0.0791

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.4%

Validation Efficiency

99% (71/72)

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
6030452D12Rik	T	C	8: 107,231,174 (GRCm39)	M120T	unknown	Het
Actr1a	A	T	19: 46,373,450 (GRCm39)		probably null	Het
Anapc5	A	T	5: 122,929,816 (GRCm39)	V555D	probably damaging	Het
Aox1	A	G	1: 58,108,008 (GRCm39)		probably null	Het
Arhgap30	A	G	1: 171,232,384 (GRCm39)	E343G	probably damaging	Het
Asap2	C	T	12: 21,267,998 (GRCm39)	T291I	possibly damaging	Het
Atp5f1a	T	A	18: 77,869,536 (GRCm39)	Y439*	probably null	Het
Auts2	A	T	5: 131,469,362 (GRCm39)	S428T	probably benign	Het
B3gnt7	T	A	1: 86,233,433 (GRCm39)	C109*	probably null	Het
C4b	C	A	17: 34,947,843 (GRCm39)	Q1657H	probably damaging	Het
Cadm2	A	T	16: 66,544,225 (GRCm39)	L268*	probably null	Het
Cep290	G	A	10: 100,390,262 (GRCm39)		probably benign	Het
Cep68	T	G	11: 20,180,571 (GRCm39)	I687L	probably benign	Het
Chd6	T	A	2: 160,894,608 (GRCm39)	D84V	probably damaging	Het
Cox18	A	T	5: 90,362,887 (GRCm39)	C324S	probably benign	Het
Cryzl2	T	C	1: 157,289,586 (GRCm39)	Y75H	probably damaging	Het
Cxcr6	C	T	9: 123,640,016 (GRCm39)	A339V	possibly damaging	Het
Dock1	T	C	7: 134,765,171 (GRCm39)	L1721P	probably benign	Het
Dstyk	T	C	1: 132,380,818 (GRCm39)		probably benign	Het
Ecpas	T	C	4: 58,827,047 (GRCm39)	T1029A	possibly damaging	Het
Ehf	A	G	2: 103,097,215 (GRCm39)	Y246H	probably damaging	Het
Epas1	T	C	17: 87,112,621 (GRCm39)	V73A	probably benign	Het
Filip1	A	G	9: 79,725,592 (GRCm39)	I1009T	possibly damaging	Het
Glis3	A	T	19: 28,276,168 (GRCm39)		probably benign	Het
Gm17333	A	T	16: 77,649,678 (GRCm39)		noncoding transcript	Het
Gpc1	G	A	1: 92,785,031 (GRCm39)	R358H	possibly damaging	Het
Gpr155	A	T	2: 73,200,346 (GRCm39)	I387N	possibly damaging	Het
Gria1	A	G	11: 57,076,853 (GRCm39)	D83G	probably damaging	Het
Grid2	A	G	6: 64,643,036 (GRCm39)	I933V	probably benign	Het
Hhatl	C	T	9: 121,617,828 (GRCm39)	A254T	probably benign	Het
Hook2	A	G	8: 85,720,196 (GRCm39)		probably benign	Het
Ift140	T	A	17: 25,269,314 (GRCm39)	S656R	possibly damaging	Het
Il11ra1	A	T	4: 41,766,185 (GRCm39)	T241S	probably benign	Het
Kank1	A	G	19: 25,388,606 (GRCm39)	I760V	probably benign	Het
Kansl1	T	C	11: 104,314,958 (GRCm39)	E360G	possibly damaging	Het
Klf9	A	T	19: 23,119,446 (GRCm39)	S110C	probably damaging	Het
Klhl31	A	G	9: 77,557,935 (GRCm39)	N217S	probably benign	Het
Lct	T	C	1: 128,228,262 (GRCm39)	Y1077C	probably damaging	Het
Lrrc49	A	T	9: 60,517,529 (GRCm39)		probably benign	Het
Lrrn1	T	A	6: 107,546,081 (GRCm39)	H626Q	probably benign	Het
Mmp28	A	T	11: 83,342,558 (GRCm39)	L40Q	probably damaging	Het
Mroh1	C	T	15: 76,336,299 (GRCm39)	A1530V	probably benign	Het
Myo1e	A	G	9: 70,209,075 (GRCm39)		probably benign	Het
Naa25	A	T	5: 121,573,553 (GRCm39)	M761L	probably benign	Het
Ncln	G	A	10: 81,324,131 (GRCm39)	A465V	probably damaging	Het
Nktr	A	G	9: 121,560,550 (GRCm39)	N98S	probably damaging	Het
Or52h9	T	A	7: 104,202,576 (GRCm39)	V150E	probably benign	Het
Or5a1	G	C	19: 12,097,734 (GRCm39)	A114G	possibly damaging	Het
Or6d15	C	A	6: 116,559,742 (GRCm39)	S55I	probably benign	Het
Or8b4	G	T	9: 37,830,849 (GRCm39)	A304S	possibly damaging	Het
Or9g3	T	C	2: 85,590,248 (GRCm39)	I157M	possibly damaging	Het
Pacsin2	T	C	15: 83,270,983 (GRCm39)	Y222C	probably damaging	Het
Pcdhb15	C	T	18: 37,607,221 (GRCm39)	T151M	possibly damaging	Het
Plcz1	C	A	6: 139,968,956 (GRCm39)	V161L	possibly damaging	Het
Ppp6c	G	A	2: 39,090,136 (GRCm39)		probably benign	Het
Relch	A	G	1: 105,678,684 (GRCm39)		probably benign	Het
Rhbdf2	T	A	11: 116,494,818 (GRCm39)	Y286F	probably benign	Het
Rtn3	A	T	19: 7,435,241 (GRCm39)	D231E	probably damaging	Het
Slc35c2	A	C	2: 165,122,815 (GRCm39)	Y156*	probably null	Het
Spata46	A	G	1: 170,139,106 (GRCm39)	D35G	probably damaging	Het
Tmed3	A	G	9: 89,584,926 (GRCm39)	F110L	possibly damaging	Het
Tmem104	T	G	11: 115,092,134 (GRCm39)		probably benign	Het
Tpbg	T	A	9: 85,726,991 (GRCm39)	V320E	possibly damaging	Het
Trib2	T	C	12: 15,843,664 (GRCm39)	D190G	probably damaging	Het
Tspan2	A	G	3: 102,666,701 (GRCm39)	T26A	probably damaging	Het
Usp17lb	A	C	7: 104,490,358 (GRCm39)	Y190D	possibly damaging	Het
Utp18	C	T	11: 93,770,973 (GRCm39)		probably benign	Het
Utp20	A	T	10: 88,656,841 (GRCm39)	D121E	probably damaging	Het
Vmn1r80	T	A	7: 11,927,244 (GRCm39)	M118K	possibly damaging	Het
Vmn1r84	T	C	7: 12,095,794 (GRCm39)	S300G	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- GGACAGTATCTCGGCTTTGGAACAC -3'
(R):5'- AGTATTCCAGGTAGACGGGGTTCTC -3'

Sequencing Primer
(F):5'- TTTGGAACACCATCTAACCTGG -3'
(R):5'- GGGTTCTCTTAATACATGGGCTAAC -3'

Posted On

2013-05-23