Mutagenetix > Incidental Mutation

Incidental Mutation 'R5718:Clpx'

451289

Institutional Source

Beutler Lab

Gene Symbol

Clpx

Ensembl Gene

ENSMUSG00000015357

Gene Name

caseinolytic mitochondrial matrix peptidase chaperone subunit

Synonyms

MMRRC Submission

043338-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5718 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65201542-65237940 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65207246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 48 (Q48L)

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: Q48L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000015501
Gene: ENSMUSG00000015357
AA Change: Q48L

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: Q48L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109455
Gene: ENSMUSG00000015357
AA Change: Q48L

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra2	T	C	8: 27,603,514 (GRCm39)		probably null	Het
Ahctf1	G	T	1: 179,596,904 (GRCm39)	H81N	possibly damaging	Het
Alyref2	T	C	1: 171,331,678 (GRCm39)	S152P	possibly damaging	Het
Arhgef7	C	T	8: 11,835,774 (GRCm39)	T20I	probably damaging	Het
Armc3	T	G	2: 19,308,610 (GRCm39)	Y759*	probably null	Het
Atg5	A	G	10: 44,238,983 (GRCm39)	S255G	probably benign	Het
Atp11b	A	G	3: 35,891,665 (GRCm39)	I1026V	probably benign	Het
Atp1a2	C	A	1: 172,107,009 (GRCm39)	K770N	probably damaging	Het
Bptf	G	T	11: 107,002,260 (GRCm39)	A284E	probably damaging	Het
Celsr2	A	G	3: 108,300,674 (GRCm39)	S815P	probably benign	Het
Chrna5	A	G	9: 54,905,389 (GRCm39)	H67R	probably benign	Het
Cic	A	G	7: 24,972,203 (GRCm39)	I645V	probably benign	Het
Crhr2	G	A	6: 55,069,085 (GRCm39)	Q397*	probably null	Het
Cyp11a1	G	A	9: 57,925,508 (GRCm39)	V48I	probably benign	Het
Dchs1	C	T	7: 105,404,955 (GRCm39)	R2529H	probably benign	Het
Dnah7c	A	T	1: 46,787,826 (GRCm39)	H3293L	possibly damaging	Het
Dock6	G	T	9: 21,735,789 (GRCm39)	D986E	probably benign	Het
Efcab6	T	A	15: 83,788,439 (GRCm39)	N952Y	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Epg5	G	A	18: 78,029,618 (GRCm39)	C1327Y	probably damaging	Het
Fbxw18	T	C	9: 109,520,636 (GRCm39)	E241G	probably benign	Het
Fsd1	T	G	17: 56,297,542 (GRCm39)		probably benign	Het
Gcnt3	A	G	9: 69,941,552 (GRCm39)	S339P	probably benign	Het
Gldc	T	A	19: 30,088,172 (GRCm39)	K829*	probably null	Het
Gli3	G	A	13: 15,652,750 (GRCm39)		probably null	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Greb1l	G	A	18: 10,542,427 (GRCm39)	E1341K	probably damaging	Het
Hmcn1	A	T	1: 150,566,351 (GRCm39)	C2217*	probably null	Het
Hmcn1	A	T	1: 150,485,417 (GRCm39)	I4395N	probably damaging	Het
Hmgxb3	A	G	18: 61,273,909 (GRCm39)	M861T	probably benign	Het
Ift172	A	G	5: 31,412,621 (GRCm39)	S1545P	possibly damaging	Het
Jak3	C	A	8: 72,136,998 (GRCm39)	L725M	probably damaging	Het
Lrig2	A	T	3: 104,375,931 (GRCm39)	C90*	probably null	Het
Mcm7	C	T	5: 138,163,081 (GRCm39)	R357H	possibly damaging	Het
Mcoln2	T	C	3: 145,887,581 (GRCm39)	S333P	probably damaging	Het
Mrpl22	A	T	11: 58,068,109 (GRCm39)	I136L	probably benign	Het
Ncam2	A	T	16: 81,386,702 (GRCm39)		probably null	Het
Ncdn	G	A	4: 126,643,743 (GRCm39)	Q360*	probably null	Het
Nsun2	A	G	13: 69,771,403 (GRCm39)	K338E	probably benign	Het
Obscn	T	C	11: 58,927,634 (GRCm39)	T6105A	probably damaging	Het
Or2aj6	G	A	16: 19,443,139 (GRCm39)	S237F	probably benign	Het
Or8g36	A	T	9: 39,422,338 (GRCm39)	L226H	probably damaging	Het
Pcnx4	T	A	12: 72,613,968 (GRCm39)	F638I	possibly damaging	Het
Pfn3	T	C	13: 55,562,853 (GRCm39)	I43V	probably benign	Het
Pigm	C	A	1: 172,205,012 (GRCm39)		probably null	Het
Pkhd1l1	T	A	15: 44,408,813 (GRCm39)	S2433R	probably damaging	Het
Pomt1	C	A	2: 32,138,704 (GRCm39)	A440D	possibly damaging	Het
Ptprj	T	C	2: 90,288,613 (GRCm39)	D691G	probably benign	Het
Qrich1	T	A	9: 108,406,022 (GRCm39)	S72T	probably damaging	Het
Ralgapa2	T	A	2: 146,295,326 (GRCm39)		probably null	Het
Rarg	A	C	15: 102,149,502 (GRCm39)	S156A	probably damaging	Het
Rasl11a	A	G	5: 146,783,954 (GRCm39)	K133R	probably benign	Het
Rcor1	A	G	12: 111,068,069 (GRCm39)	D158G	probably benign	Het
Rpn2	C	T	2: 157,163,747 (GRCm39)	T613M	probably damaging	Het
Sipa1l2	T	A	8: 126,217,987 (GRCm39)	H450L	probably damaging	Het
Slc25a21	T	C	12: 56,764,941 (GRCm39)	I263V	probably benign	Het
Slc25a32	A	T	15: 38,960,957 (GRCm39)	V242E	probably benign	Het
Slc5a5	T	A	8: 71,340,399 (GRCm39)	T484S	probably benign	Het
Tdrd3	T	C	14: 87,743,876 (GRCm39)	V608A	probably benign	Het
Thnsl1	C	A	2: 21,216,811 (GRCm39)	H188Q	possibly damaging	Het
Tshz1	A	T	18: 84,032,649 (GRCm39)	H586Q	probably damaging	Het
Vmn2r27	C	T	6: 124,169,103 (GRCm39)	A676T	possibly damaging	Het
Wasf1	G	A	10: 40,802,570 (GRCm39)	R75Q	probably damaging	Het
Xbp1	T	A	11: 5,471,903 (GRCm39)	F10I	probably benign	Het
Zbtb1	G	A	12: 76,433,698 (GRCm39)	M561I	probably benign	Het
Zfp708	T	C	13: 67,218,522 (GRCm39)	K446E	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
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
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'- TCAACCTTTATTTACCAGGACTTTG -3'
(R):5'- TTGCAGGGCAGCCTAAGTC -3'

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

Posted On

2017-01-03