Mutagenetix > Incidental Mutation

Incidental Mutation 'R0666:Clpx'

62020

Institutional Source

Beutler Lab

Gene Symbol

Clpx

Ensembl Gene

ENSMUSG00000015357

Gene Name

caseinolytic mitochondrial matrix peptidase chaperone subunit

Synonyms

MMRRC Submission

038851-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0666 (G1)

Quality Score

159

Status

Validated

Chromosome

Chromosomal Location

65201542-65237940 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65217507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 25 (N25S)

Ref Sequence

ENSEMBL: ENSMUSP00000116377 (fasta)

Gene Model

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

AlphaFold

Q9JHS4

Predicted Effect

probably damaging
Transcript: ENSMUST00000015501
AA Change: N197S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000015501
Gene: ENSMUSG00000015357
AA Change: N197S

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 damaging
Transcript: ENSMUST00000113824
AA Change: N197S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109455
Gene: ENSMUSG00000015357
AA Change: N197S

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 damaging
Transcript: ENSMUST00000147279
AA Change: N25S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116377
Gene: ENSMUSG00000015357
AA Change: N25S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148632

Meta Mutation Damage Score

0.7820

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.7%

Validation Efficiency

100% (89/89)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	T	A	12: 52,958,591 (GRCm39)	V782E	probably damaging	Het
Atg9a	A	G	1: 75,161,734 (GRCm39)	L604P	probably damaging	Het
Atp1a3	T	C	7: 24,689,974 (GRCm39)	I482V	probably benign	Het
Bltp2	T	G	11: 78,178,813 (GRCm39)	M2026R	probably damaging	Het
Bltp2	T	A	11: 78,168,038 (GRCm39)	L1491*	probably null	Het
Ccdc18	T	G	5: 108,311,530 (GRCm39)	V412G	probably benign	Het
Ccn6	T	C	10: 39,027,285 (GRCm39)	R316G	probably benign	Het
Cct6a	A	G	5: 129,871,449 (GRCm39)		noncoding transcript	Het
Cnpy2	T	A	10: 128,162,894 (GRCm39)	C171*	probably null	Het
Cntnap3	C	T	13: 64,905,211 (GRCm39)	D857N	probably damaging	Het
Col5a1	A	G	2: 27,922,697 (GRCm39)	Y255C	probably damaging	Het
Coro7	A	T	16: 4,449,775 (GRCm39)	F638Y	possibly damaging	Het
Cpd	A	G	11: 76,673,153 (GRCm39)	F1331L	probably damaging	Het
Csmd1	A	T	8: 16,119,063 (GRCm39)	I1842N	possibly damaging	Het
Dgkg	T	A	16: 22,381,480 (GRCm39)	D490V	probably damaging	Het
Dnah9	A	T	11: 65,976,284 (GRCm39)	M1255K	probably benign	Het
E2f1	A	G	2: 154,402,849 (GRCm39)	V306A	probably benign	Het
Entpd1	A	G	19: 40,648,350 (GRCm39)		probably benign	Het
Esrrb	T	A	12: 86,552,676 (GRCm39)	I222N	probably benign	Het
Flt4	G	T	11: 49,516,274 (GRCm39)	A126S	possibly damaging	Het
Galnt11	C	T	5: 25,457,145 (GRCm39)	T237I	possibly damaging	Het
Galnt2l	A	T	8: 122,997,727 (GRCm39)		probably benign	Het
Gbf1	A	G	19: 46,250,983 (GRCm39)		probably benign	Het
H2-T9	T	C	17: 36,438,726 (GRCm39)	T222A	possibly damaging	Het
Herc1	T	A	9: 66,392,170 (GRCm39)		probably benign	Het
Hsph1	T	C	5: 149,554,967 (GRCm39)	Y105C	probably damaging	Het
Il23r	T	C	6: 67,411,664 (GRCm39)	T358A	probably benign	Het
Il2ra	C	T	2: 11,647,884 (GRCm39)		probably benign	Het
Kbtbd4	G	T	2: 90,744,459 (GRCm39)		probably benign	Het
Kcnt1	A	G	2: 25,781,255 (GRCm39)		probably benign	Het
Kng2	A	G	16: 22,815,872 (GRCm39)		probably benign	Het
Lap3	C	T	5: 45,669,270 (GRCm39)	T473I	possibly damaging	Het
Lrrk2	T	C	15: 91,641,273 (GRCm39)		probably null	Het
Map1s	A	G	8: 71,366,696 (GRCm39)	N534D	possibly damaging	Het
Mtg1	G	A	7: 139,724,257 (GRCm39)	V122I	probably benign	Het
Myadm	T	A	7: 3,345,865 (GRCm39)	I209K	probably damaging	Het
Ntsr2	G	A	12: 16,703,981 (GRCm39)	V75I	probably benign	Het
Or4b1b	A	T	2: 90,112,212 (GRCm39)	S236T	probably damaging	Het
Or8u10	G	A	2: 85,915,557 (GRCm39)	A188V	probably benign	Het
Pfn1	T	C	11: 70,545,192 (GRCm39)	T39A	probably benign	Het
Pipox	T	A	11: 77,774,651 (GRCm39)	K144M	probably benign	Het
Plekhh1	G	A	12: 79,115,889 (GRCm39)	E811K	probably damaging	Het
Pnpla3	T	A	15: 84,063,506 (GRCm39)	W295R	probably benign	Het
Prkacb	T	A	3: 146,457,273 (GRCm39)	T136S	probably damaging	Het
Ralbp1	T	A	17: 66,161,124 (GRCm39)	N473I	probably benign	Het
Rbp4	G	A	19: 38,106,908 (GRCm39)	T127M	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rps3a1	G	A	3: 86,045,424 (GRCm39)		probably benign	Het
Scg3	G	T	9: 75,551,222 (GRCm39)	Y429*	probably null	Het
Shisal2b	G	T	13: 104,994,862 (GRCm39)	T95K	possibly damaging	Het
Spag5	T	C	11: 78,204,222 (GRCm39)	S492P	probably damaging	Het
St7	T	A	6: 17,934,238 (GRCm39)	M540K	probably damaging	Het
Stxbp3	C	A	3: 108,712,618 (GRCm39)	V281F	possibly damaging	Het
Sun5	A	G	2: 153,700,968 (GRCm39)	V242A	possibly damaging	Het
Susd5	G	T	9: 113,924,852 (GRCm39)	R245L	possibly damaging	Het
Syne2	A	G	12: 75,969,787 (GRCm39)	E954G	probably damaging	Het
Synpo2	A	T	3: 122,907,708 (GRCm39)	V536E	probably damaging	Het
Tas2r140	T	C	6: 133,032,405 (GRCm39)	I118V	probably benign	Het
Tbx18	C	A	9: 87,606,462 (GRCm39)	V228L	probably benign	Het
Tdrd9	T	A	12: 111,974,014 (GRCm39)		probably benign	Het
Tektl1	C	A	10: 78,586,381 (GRCm39)	L223F	probably benign	Het
Tg	T	C	15: 66,609,370 (GRCm39)	M310T	probably benign	Het
Ticam2	T	A	18: 46,693,718 (GRCm39)	D123V	probably damaging	Het
Timm23	A	G	14: 31,920,993 (GRCm39)		probably benign	Het
Tinag	C	T	9: 76,912,969 (GRCm39)	R280H	probably benign	Het
Topbp1	G	A	9: 103,186,011 (GRCm39)	R51K	probably benign	Het
Tor1b	A	G	2: 30,843,925 (GRCm39)	I121V	probably damaging	Het
Tpmt	C	A	13: 47,185,930 (GRCm39)	G148V	probably damaging	Het
Tubb1	A	G	2: 174,299,548 (GRCm39)	E410G	probably damaging	Het
Ubash3b	C	A	9: 40,958,360 (GRCm39)	V7L	possibly damaging	Het
Ube2o	C	T	11: 116,433,661 (GRCm39)	E686K	probably damaging	Het
Unc13d	T	A	11: 115,960,318 (GRCm39)		probably benign	Het
Vmn1r183	A	T	7: 23,754,601 (GRCm39)	M135L	probably benign	Het
Xkr8	T	C	4: 132,459,649 (GRCm39)	Y43C	probably damaging	Het
Zc3h4	T	A	7: 16,168,697 (GRCm39)	N935K	unknown	Het
Zc3h7a	G	A	16: 10,974,167 (GRCm39)		probably benign	Het
Zfp84	C	T	7: 29,476,276 (GRCm39)	H323Y	probably damaging	Het
Zfp873	G	T	10: 81,896,595 (GRCm39)	S442I	possibly damaging	Het
Zfp938	A	G	10: 82,061,606 (GRCm39)	L338P	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
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'- ctctccagccccAGACACTTCA -3'
(R):5'- GCTTCTCACACGCTTCCTAAAGAGAT -3'

Sequencing Primer
(F):5'- ccAGACACTTCATTTTTAATGGGAAC -3'
(R):5'- cacaaccatctgtaacaagacc -3'

Posted On

2013-07-30