Incidental Mutation 'R1594:Clpx'
| ID |
175571 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clpx
|
| Ensembl Gene |
ENSMUSG00000015357 |
| Gene Name |
caseinolytic mitochondrial matrix peptidase chaperone subunit |
| Synonyms |
|
| MMRRC Submission |
039631-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1594 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
65201542-65237940 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65231552 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 546
(T546A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109455
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015501]
[ENSMUST00000113824]
|
| AlphaFold |
Q9JHS4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000015501
AA Change: T560A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000015501
Gene: ENSMUSG00000015357
AA Change: T560A
| 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: T546A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109455
Gene: ENSMUSG00000015357
AA Change: T546A
| 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 |
|
| Meta Mutation Damage Score |
0.5850 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.7%
|
| Validation Efficiency |
100% (55/55) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
G |
A |
16: 30,946,205 (GRCm39) |
A264V |
probably benign |
Het |
| Adam17 |
A |
G |
12: 21,390,471 (GRCm39) |
|
probably null |
Het |
| Adcy10 |
A |
G |
1: 165,352,602 (GRCm39) |
N479D |
probably benign |
Het |
| C2cd2l |
A |
G |
9: 44,228,070 (GRCm39) |
S84P |
probably damaging |
Het |
| Capn13 |
A |
G |
17: 73,658,474 (GRCm39) |
V198A |
probably benign |
Het |
| Cblc |
G |
A |
7: 19,526,471 (GRCm39) |
S206F |
probably damaging |
Het |
| Ccdc7b |
A |
T |
8: 129,904,838 (GRCm39) |
T159S |
possibly damaging |
Het |
| Col18a1 |
A |
G |
10: 76,948,870 (GRCm39) |
V214A |
possibly damaging |
Het |
| Csgalnact1 |
A |
T |
8: 68,811,284 (GRCm39) |
V462E |
probably damaging |
Het |
| Cts6 |
G |
A |
13: 61,346,181 (GRCm39) |
T202I |
probably damaging |
Het |
| Cwf19l2 |
A |
G |
9: 3,430,973 (GRCm39) |
Y435C |
probably benign |
Het |
| D630003M21Rik |
T |
A |
2: 158,053,550 (GRCm39) |
Q646L |
probably damaging |
Het |
| E2f2 |
A |
G |
4: 135,914,141 (GRCm39) |
Q297R |
possibly damaging |
Het |
| Eef1d |
T |
C |
15: 75,768,195 (GRCm39) |
E189G |
probably damaging |
Het |
| Fam114a2 |
A |
C |
11: 57,404,066 (GRCm39) |
|
probably null |
Het |
| Fam24b |
A |
C |
7: 130,928,025 (GRCm39) |
Y55D |
probably benign |
Het |
| Gimap6 |
T |
C |
6: 48,679,125 (GRCm39) |
T304A |
probably benign |
Het |
| Gm11232 |
T |
C |
4: 71,675,572 (GRCm39) |
E63G |
possibly damaging |
Het |
| Hbs1l |
A |
G |
10: 21,227,922 (GRCm39) |
M152V |
probably benign |
Het |
| Herc3 |
C |
A |
6: 58,864,569 (GRCm39) |
|
probably benign |
Het |
| Hmx2 |
A |
G |
7: 131,157,231 (GRCm39) |
D115G |
probably benign |
Het |
| Igsf3 |
C |
A |
3: 101,358,393 (GRCm39) |
Y761* |
probably null |
Het |
| Kbtbd13 |
A |
G |
9: 65,298,901 (GRCm39) |
W12R |
probably benign |
Het |
| Kif2c |
C |
A |
4: 117,035,385 (GRCm39) |
R21L |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,519,876 (GRCm39) |
N2078S |
probably benign |
Het |
| Mgst3 |
T |
A |
1: 167,201,379 (GRCm39) |
Y102F |
probably damaging |
Het |
| Mov10 |
G |
T |
3: 104,702,727 (GRCm39) |
T946N |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,344,450 (GRCm39) |
I2317N |
possibly damaging |
Het |
| Nid2 |
T |
A |
14: 19,831,329 (GRCm39) |
I741N |
probably benign |
Het |
| Nlrp9a |
G |
A |
7: 26,269,932 (GRCm39) |
W786* |
probably null |
Het |
| Or8g20 |
A |
C |
9: 39,396,042 (GRCm39) |
I166S |
probably benign |
Het |
| Or9a7 |
T |
C |
6: 40,521,281 (GRCm39) |
I211V |
probably benign |
Het |
| Pi4ka |
G |
T |
16: 17,191,283 (GRCm39) |
|
probably benign |
Het |
| Plcb4 |
A |
G |
2: 135,812,310 (GRCm39) |
|
probably benign |
Het |
| Psg16 |
A |
G |
7: 16,827,748 (GRCm39) |
T144A |
probably damaging |
Het |
| Sec24b |
A |
G |
3: 129,785,000 (GRCm39) |
V1002A |
probably benign |
Het |
| Shank1 |
A |
T |
7: 43,976,647 (GRCm39) |
K582* |
probably null |
Het |
| Slc22a7 |
T |
C |
17: 46,748,957 (GRCm39) |
D120G |
possibly damaging |
Het |
| Slco6c1 |
T |
A |
1: 96,990,163 (GRCm39) |
T676S |
probably benign |
Het |
| Sulf2 |
A |
G |
2: 165,926,367 (GRCm39) |
|
probably benign |
Het |
| Tgm1 |
T |
C |
14: 55,946,976 (GRCm39) |
D344G |
probably damaging |
Het |
| Tle4 |
C |
T |
19: 14,430,970 (GRCm39) |
W604* |
probably null |
Het |
| Tmco3 |
T |
C |
8: 13,342,052 (GRCm39) |
S109P |
probably damaging |
Het |
| Unc13d |
T |
G |
11: 115,959,538 (GRCm39) |
D647A |
probably benign |
Het |
| Usp19 |
T |
C |
9: 108,375,721 (GRCm39) |
V887A |
probably damaging |
Het |
| Vmn2r49 |
A |
T |
7: 9,710,550 (GRCm39) |
D727E |
probably damaging |
Het |
| Ypel1 |
A |
G |
16: 16,899,985 (GRCm39) |
H72R |
probably damaging |
Het |
| Zfp407 |
A |
G |
18: 84,227,456 (GRCm39) |
V2051A |
probably benign |
Het |
| Zfp438 |
A |
G |
18: 5,213,515 (GRCm39) |
L481P |
possibly damaging |
Het |
| Zfp850 |
C |
A |
7: 27,688,816 (GRCm39) |
R464L |
probably benign |
Het |
| Zfp985 |
T |
C |
4: 147,667,537 (GRCm39) |
V135A |
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 |
|
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'- GCAGTCACCTCACCACTGAGCC -3'
(R):5'- TGCATGTGAGCAAACATACAGACACAA -3'
Sequencing Primer
(F):5'- accacgcccggctTATATTC -3'
(R):5'- TACAGACACAAACGTAGGTATGCTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation