Mutagenetix > Incidental Mutation

Incidental Mutation 'R6109:Clpx'

484725

Institutional Source

Beutler Lab

Gene Symbol

Clpx

Ensembl Gene

ENSMUSG00000015357

Gene Name

caseinolytic mitochondrial matrix peptidase chaperone subunit

Synonyms

MMRRC Submission

044259-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6109 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65201542-65237940 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 65207234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 44 (T44I)

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: T44I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000015501
Gene: ENSMUSG00000015357
AA Change: T44I

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: T44I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000109455
Gene: ENSMUSG00000015357
AA Change: T44I

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

noncoding transcript
Transcript: ENSMUST00000148632

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155424

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

100% (64/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	T	C	17: 46,621,303 (GRCm39)	Y950C	probably benign	Het
Acadm	A	G	3: 153,647,580 (GRCm39)	C20R	probably damaging	Het
Agtpbp1	G	T	13: 59,621,560 (GRCm39)	T984K	probably damaging	Het
Agxt2	C	T	15: 10,377,508 (GRCm39)	T136I	probably damaging	Het
Ankrd36	C	A	11: 5,578,941 (GRCm39)	N68K	probably damaging	Het
Ap3b2	T	A	7: 81,143,340 (GRCm39)	D10V	possibly damaging	Het
Apcdd1	A	T	18: 63,070,437 (GRCm39)	I235F	probably damaging	Het
Arhgap32	T	A	9: 32,171,407 (GRCm39)	W1396R	probably damaging	Het
Ascc3	A	G	10: 50,525,343 (GRCm39)	T513A	probably benign	Het
Aym1	C	T	5: 113,505,407 (GRCm39)	L9F	unknown	Het
Btnl10	C	A	11: 58,811,130 (GRCm39)	S151Y	probably damaging	Het
Camk2a	A	T	18: 61,076,306 (GRCm39)	K95*	probably null	Het
Ccdc40	T	C	11: 119,122,804 (GRCm39)	V202A	probably benign	Het
Cd200r3	T	A	16: 44,774,045 (GRCm39)	D152E	probably benign	Het
Cd2bp2	C	T	7: 126,793,987 (GRCm39)	D101N	probably damaging	Het
Cdh20	G	A	1: 104,921,739 (GRCm39)	D679N	probably damaging	Het
Cnnm4	T	G	1: 36,537,560 (GRCm39)	V541G	probably damaging	Het
Csmd1	T	C	8: 16,249,874 (GRCm39)	I1035V	possibly damaging	Het
Ctsw	T	C	19: 5,517,147 (GRCm39)	S62G	probably benign	Het
Dlk2	T	A	17: 46,612,623 (GRCm39)	Y109N	probably damaging	Het
Ebf3	C	T	7: 136,807,955 (GRCm39)	V363M	probably damaging	Het
Farsb	A	G	1: 78,439,907 (GRCm39)		probably null	Het
Fastkd3	C	T	13: 68,738,337 (GRCm39)	Q32*	probably null	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Foxl3	C	A	5: 138,805,850 (GRCm39)	Q6K	probably damaging	Het
Gk5	C	A	9: 96,022,663 (GRCm39)	F166L	probably benign	Het
Gm11271	G	T	13: 21,565,309 (GRCm39)		noncoding transcript	Het
Gnat2	T	A	3: 108,007,451 (GRCm39)	Y290N	probably damaging	Het
H2-D1	A	T	17: 35,482,913 (GRCm39)	I148F	probably damaging	Het
Hdac2	A	G	10: 36,862,385 (GRCm39)	D83G	probably null	Het
Kdm5d	T	C	Y: 921,501 (GRCm39)	W500R	probably damaging	Het
Kel	A	T	6: 41,665,796 (GRCm39)	F489I	probably benign	Het
Kmo	C	A	1: 175,465,474 (GRCm39)	A76E	possibly damaging	Het
Krt32	T	C	11: 99,978,791 (GRCm39)	T88A	probably benign	Het
Lce3b	A	G	3: 92,840,994 (GRCm39)	T30A	unknown	Het
Lcn11	A	G	2: 25,669,308 (GRCm39)	H155R	possibly damaging	Het
Lmln	T	A	16: 32,889,481 (GRCm39)	I129N	possibly damaging	Het
Meiob	A	G	17: 25,031,993 (GRCm39)	K3E	probably benign	Het
Mitf	C	T	6: 97,973,429 (GRCm39)	T229M	probably damaging	Het
Ms4a20	T	C	19: 11,079,276 (GRCm39)	M131V	possibly damaging	Het
Muc16	T	C	9: 18,566,655 (GRCm39)	I1955V	unknown	Het
Naip1	A	G	13: 100,563,690 (GRCm39)	C492R	probably damaging	Het
Ncor2	C	T	5: 125,132,910 (GRCm39)	A26T	probably damaging	Het
Ngfr	T	G	11: 95,468,883 (GRCm39)	D165A	probably damaging	Het
Nobox	A	T	6: 43,282,103 (GRCm39)	S323R	probably damaging	Het
Or51ac3	T	C	7: 103,214,346 (GRCm39)	I47V	probably benign	Het
Or6c215	G	A	10: 129,637,689 (GRCm39)	A235V	probably damaging	Het
Or6c215	C	A	10: 129,637,690 (GRCm39)	A235S	probably damaging	Het
Or8g23	A	G	9: 38,971,492 (GRCm39)	S157P	probably benign	Het
Pcdhb1	G	T	18: 37,398,306 (GRCm39)	V86F	possibly damaging	Het
Pdk1	A	G	2: 71,713,850 (GRCm39)	E165G	probably benign	Het
Peak1	C	T	9: 56,166,567 (GRCm39)	V454I	probably benign	Het
Rad9b	C	T	5: 122,482,360 (GRCm39)	G125D	probably damaging	Het
S100a16	T	C	3: 90,449,381 (GRCm39)	F19L	probably damaging	Het
Serpine2	T	C	1: 79,788,388 (GRCm39)	K190E	probably damaging	Het
Slf1	A	T	13: 77,274,799 (GRCm39)	M12K	probably damaging	Het
Tex101	T	C	7: 24,367,738 (GRCm39)	T205A	possibly damaging	Het
Tssk5	T	C	15: 76,257,916 (GRCm39)	E147G	probably damaging	Het
Ubr4	A	G	4: 139,144,675 (GRCm39)	T1495A	probably damaging	Het
Vav3	C	T	3: 109,571,681 (GRCm39)	T201M	probably damaging	Het
Wdr70	A	T	15: 8,108,638 (GRCm39)		probably null	Het
Zfp811	T	A	17: 33,016,348 (GRCm39)		probably null	Het
Zscan10	T	A	17: 23,826,103 (GRCm39)	F88L	probably damaging	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
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
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'- GTGTTCAACCTTTATTTACCAGGAC -3'
(R):5'- GATCAACTCAGACTCTTCAAATCAT -3'

Sequencing Primer
(F):5'- AACTGTGGTTGCTAGGACTCCAAC -3'
(R):5'- CGGAGCCATCCTTGTTT -3'

Posted On

2017-08-16