Mutagenetix > Incidental Mutation

Incidental Mutation 'R8753:Clpx'

663984

Institutional Source

Beutler Lab

Gene Symbol

Clpx

Ensembl Gene

ENSMUSG00000015357

Gene Name

caseinolytic mitochondrial matrix peptidase chaperone subunit

Synonyms

MMRRC Submission

068619-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8753 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65294260-65330658 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 65316676 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 251 (G251S)

Ref Sequence

ENSEMBL: ENSMUSP00000015501 (fasta)

Gene Model

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

AlphaFold

Q9JHS4

Predicted Effect

probably damaging
Transcript: ENSMUST00000015501
AA Change: G251S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000015501
Gene: ENSMUSG00000015357
AA Change: G251S

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: G237S

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000109455
Gene: ENSMUSG00000015357
AA Change: G237S

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

possibly damaging
Transcript: ENSMUST00000147279
AA Change: G65S

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000116377
Gene: ENSMUSG00000015357
AA Change: G65S

Domain	Start	End	E-Value	Type
low complexity region	73	82	N/A	INTRINSIC
AAA	100	192	1.89e-3	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

95% (59/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	C	2: 25,442,694 (GRCm38)	Y1496H	probably damaging	Het
Acan	G	A	7: 79,098,768 (GRCm38)	E1096K	possibly damaging	Het
Adprhl1	T	C	8: 13,222,118 (GRCm38)	K1547E	possibly damaging	Het
Ampd2	C	A	3: 108,080,116 (GRCm38)	V134L	probably benign	Het
Arf4	T	A	14: 26,652,959 (GRCm38)		probably benign	Het
Boc	A	T	16: 44,500,412 (GRCm38)	M295K		Het
C2cd3	T	A	7: 100,399,817 (GRCm38)		probably null	Het
Calcrl	C	G	2: 84,348,315 (GRCm38)	G223A	probably benign	Het
Calcrl	C	A	2: 84,348,317 (GRCm38)	M222I	probably benign	Het
Ccdc88b	T	C	19: 6,855,845 (GRCm38)	E278G	probably damaging	Het
Ccz1	A	G	5: 143,988,232 (GRCm38)	C469R	probably benign	Het
Cdc40	C	T	10: 40,841,484 (GRCm38)	D404N	probably damaging	Het
Col6a3	C	G	1: 90,767,606 (GRCm38)		probably benign	Het
Cpox	T	A	16: 58,678,028 (GRCm38)	M408K	probably damaging	Het
Crybb3	A	G	5: 113,078,381 (GRCm38)		probably null	Het
Cubn	A	T	2: 13,308,566 (GRCm38)	C3064*	probably null	Het
Cxcl3	CCTGCTGCTGCTGCTG	CCTGCTGCTGCTG	5: 90,786,212 (GRCm38)		probably benign	Het
Cyp4a31	A	T	4: 115,574,961 (GRCm38)	S432C	probably benign	Het
Ddias	A	T	7: 92,859,460 (GRCm38)	F416I	probably damaging	Het
Dlat	G	T	9: 50,649,667 (GRCm38)	A360E	probably damaging	Het
Dnttip2	A	G	3: 122,280,749 (GRCm38)	T612A	probably damaging	Het
Fnip1	A	G	11: 54,510,041 (GRCm38)	T1089A	probably damaging	Het
Gm12117	A	T	11: 33,275,953 (GRCm38)	L128M	probably benign	Het
Gtf2h5	C	CA	17: 6,084,558 (GRCm38)		probably null	Het
H2afy2	T	C	10: 61,749,334 (GRCm38)	D177G	possibly damaging	Het
Ibtk	T	C	9: 85,728,766 (GRCm38)	T285A	probably benign	Het
Ifi206	A	T	1: 173,473,657 (GRCm38)	N818K	unknown	Het
Itga10	T	G	3: 96,651,155 (GRCm38)	L305R	probably damaging	Het
Khnyn	T	C	14: 55,887,766 (GRCm38)	Y461H	possibly damaging	Het
Mbtps1	T	C	8: 119,508,862 (GRCm38)	S1026G	possibly damaging	Het
Msantd4	A	G	9: 4,385,013 (GRCm38)	E246G	probably damaging	Het
N4bp1	T	C	8: 86,848,457 (GRCm38)	I737V	probably damaging	Het
Nav2	T	G	7: 49,452,572 (GRCm38)	S373A	probably benign	Het
Nbea	T	C	3: 55,626,908 (GRCm38)	Y2936C	probably damaging	Het
Nbeal1	A	T	1: 60,268,383 (GRCm38)	I1685F	probably damaging	Het
Nt5c3	C	G	6: 56,883,692 (GRCm38)	G293R	probably damaging	Het
Olfr1315-ps1	A	T	2: 112,110,457 (GRCm38)	V265E	probably benign	Het
Olfr67	T	A	7: 103,787,360 (GRCm38)	I306F	probably benign	Het
Pcnx2	A	T	8: 125,887,260 (GRCm38)	V484E	probably benign	Het
Pcsk5	C	T	19: 17,469,044 (GRCm38)	R1195Q	probably benign	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,218,068 (GRCm38)		probably benign	Het
Pitpnm3	A	G	11: 72,051,878 (GRCm38)	V861A	probably benign	Het
Pkd1	A	G	17: 24,574,202 (GRCm38)	Y1621C	probably damaging	Het
Polr3a	C	A	14: 24,463,634 (GRCm38)	E846*	probably null	Het
Polr3e	T	C	7: 120,940,317 (GRCm38)	V455A	possibly damaging	Het
Prr5l	C	T	2: 101,741,378 (GRCm38)	G118D	probably damaging	Het
Pygl	G	T	12: 70,195,626 (GRCm38)	N685K	probably damaging	Het
Rfx8	A	G	1: 39,718,440 (GRCm38)	V56A	probably damaging	Het
Sbf1	T	C	15: 89,295,459 (GRCm38)	D1341G	probably benign	Het
Selenon	T	C	4: 134,548,019 (GRCm38)	T123A	probably benign	Het
Slc23a1	T	G	18: 35,619,578 (GRCm38)	K549Q	probably benign	Het
Slc7a13	T	C	4: 19,841,443 (GRCm38)	F430S	probably damaging	Het
Smarcc2	G	A	10: 128,483,201 (GRCm38)	V707M	probably damaging	Het
St18	A	G	1: 6,845,791 (GRCm38)	S887G	probably damaging	Het
T2	T	C	17: 8,396,645 (GRCm38)		probably benign	Het
Tbc1d16	A	G	11: 119,210,666 (GRCm38)	L6P	probably damaging	Het
Tcf7l2	T	C	19: 55,931,763 (GRCm38)	L576P	possibly damaging	Het
Tnr	A	G	1: 159,850,366 (GRCm38)	D107G	probably benign	Het
Trpv1	G	T	11: 73,244,256 (GRCm38)	K426N	probably damaging	Het
Vmn1r15	A	T	6: 57,258,910 (GRCm38)	L254F	probably benign	Het
Vmn1r219	A	T	13: 23,163,021 (GRCm38)	I127F	probably damaging	Het
Zc3h14	A	T	12: 98,758,572 (GRCm38)	E164D	probably benign	Het

Other mutations in Clpx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00955:Clpx	APN	9	65,324,270 (GRCm38)	missense	probably damaging	1.00
IGL01394:Clpx	APN	9	65,310,213 (GRCm38)	missense	probably damaging	1.00
IGL01395:Clpx	APN	9	65,301,851 (GRCm38)	missense	probably benign	0.00
IGL01521:Clpx	APN	9	65,318,744 (GRCm38)	missense	probably damaging	1.00
IGL02141:Clpx	APN	9	65,312,118 (GRCm38)	splice site	probably null
IGL02512:Clpx	APN	9	65,310,251 (GRCm38)	missense	probably benign
IGL03008:Clpx	APN	9	65,322,775 (GRCm38)	missense	possibly damaging	0.76
IGL03146:Clpx	APN	9	65,326,830 (GRCm38)	missense	probably benign	0.01
IGL03152:Clpx	APN	9	65,310,176 (GRCm38)	missense	possibly damaging	0.56
IGL03309:Clpx	APN	9	65,322,692 (GRCm38)	missense	probably damaging	1.00
kneehigh	UTSW	9	65,301,879 (GRCm38)	nonsense	probably null
locust	UTSW	9	65,324,301 (GRCm38)	critical splice donor site	probably null
IGL02837:Clpx	UTSW	9	65,324,259 (GRCm38)	missense	probably damaging	1.00
R0167:Clpx	UTSW	9	65,316,737 (GRCm38)	missense	possibly damaging	0.53
R0399:Clpx	UTSW	9	65,322,769 (GRCm38)	missense	probably benign	0.03
R0666:Clpx	UTSW	9	65,310,225 (GRCm38)	missense	probably damaging	1.00
R1386:Clpx	UTSW	9	65,326,888 (GRCm38)	missense	probably null	0.88
R1594:Clpx	UTSW	9	65,324,270 (GRCm38)	missense	probably damaging	0.99
R2038:Clpx	UTSW	9	65,317,493 (GRCm38)	missense	probably damaging	1.00
R4131:Clpx	UTSW	9	65,316,655 (GRCm38)	missense	possibly damaging	0.64
R4715:Clpx	UTSW	9	65,312,114 (GRCm38)	missense	possibly damaging	0.92
R5107:Clpx	UTSW	9	65,308,539 (GRCm38)	missense	possibly damaging	0.93
R5248:Clpx	UTSW	9	65,320,850 (GRCm38)	missense	probably damaging	1.00
R5520:Clpx	UTSW	9	65,317,448 (GRCm38)	nonsense	probably null
R5639:Clpx	UTSW	9	65,329,830 (GRCm38)	missense	probably benign	0.00
R5718:Clpx	UTSW	9	65,299,964 (GRCm38)	missense	probably benign
R6109:Clpx	UTSW	9	65,299,952 (GRCm38)	missense	probably benign	0.02
R6172:Clpx	UTSW	9	65,301,879 (GRCm38)	nonsense	probably null
R6173:Clpx	UTSW	9	65,301,879 (GRCm38)	nonsense	probably null
R6748:Clpx	UTSW	9	65,310,159 (GRCm38)	missense	probably benign	0.00
R7287:Clpx	UTSW	9	65,300,013 (GRCm38)	nonsense	probably null
R7409:Clpx	UTSW	9	65,324,247 (GRCm38)	missense	possibly damaging	0.94
R7806:Clpx	UTSW	9	65,299,931 (GRCm38)	missense	probably benign
R7814:Clpx	UTSW	9	65,324,301 (GRCm38)	critical splice donor site	probably null
R8212:Clpx	UTSW	9	65,320,891 (GRCm38)	missense	possibly damaging	0.46
R8939:Clpx	UTSW	9	65,324,237 (GRCm38)	missense	probably benign	0.00
R9023:Clpx	UTSW	9	65,326,833 (GRCm38)	missense	probably null	0.00
X0067:Clpx	UTSW	9	65,316,695 (GRCm38)	missense	possibly damaging	0.86
Z1177:Clpx	UTSW	9	65,299,997 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACACTGATGTAACTATGGACGAGAG -3'
(R):5'- GCCAGAATCCACTATTATTACAAGG -3'

Sequencing Primer
(F):5'- ACGAGAGTTCTCTTCTAGTTCCG -3'
(R):5'- TTTACCTGACCCAGTTGG -3'

Posted On

2021-03-08