Incidental Mutation 'PIT4486001:Clpb'
| ID |
556102 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clpb
|
| Ensembl Gene |
ENSMUSG00000001829 |
| Gene Name |
ClpB caseinolytic peptidase B |
| Synonyms |
Skd3 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.910)
|
| Stock # |
PIT4486001 (G1)
|
| Quality Score |
140.008 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
101312958-101444667 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 101313139 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 41
(D41V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001884
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001884]
[ENSMUST00000106998]
[ENSMUST00000123870]
[ENSMUST00000209579]
|
| AlphaFold |
Q60649 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001884
AA Change: D41V
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000001884
Gene: ENSMUSG00000001829
AA Change: D41V
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
133 |
162 |
2.03e-1 |
SMART |
|
ANK
|
166 |
195 |
1.96e-3 |
SMART |
|
ANK
|
235 |
264 |
6.65e-6 |
SMART |
|
low complexity region
|
294 |
306 |
N/A |
INTRINSIC |
|
AAA
|
343 |
497 |
6.36e-10 |
SMART |
|
ClpB_D2-small
|
541 |
630 |
6.83e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106998
AA Change: D41V
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000102611
Gene: ENSMUSG00000001829
AA Change: D41V
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
133 |
162 |
2.03e-1 |
SMART |
|
ANK
|
166 |
195 |
1.96e-3 |
SMART |
|
ANK
|
265 |
294 |
6.65e-6 |
SMART |
|
low complexity region
|
324 |
336 |
N/A |
INTRINSIC |
|
AAA
|
373 |
527 |
6.36e-10 |
SMART |
|
ClpB_D2-small
|
571 |
660 |
6.83e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000123870
AA Change: D41V
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209579
AA Change: D41V
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
| Coding Region Coverage |
- 1x: 93.0%
- 3x: 90.5%
- 10x: 84.1%
- 20x: 70.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the ATP-ases associated with diverse cellular activities (AAA+) superfamily. Members of this superfamily form ring-shaped homo-hexamers and have highly conserved ATPase domains that are involved in various processes including DNA replication, protein degradation and reactivation of misfolded proteins. All members of this family hydrolyze ATP through their AAA+ domains and use the energy generated through ATP hydrolysis to exert mechanical force on their substrates. In addition to an AAA+ domain, the protein encoded by this gene contains a C-terminal D2 domain, which is characteristic of the AAA+ subfamily of Caseinolytic peptidases to which this protein belongs. It cooperates with Hsp70 in the disaggregation of protein aggregates. Allelic variants of this gene are associated with 3-methylglutaconic aciduria, which causes cataracts and neutropenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
T |
C |
5: 144,980,914 (GRCm39) |
S108P |
probably damaging |
Het |
| Abhd16b |
A |
T |
2: 181,135,752 (GRCm39) |
Q218L |
probably benign |
Het |
| Abhd3 |
T |
A |
18: 10,645,233 (GRCm39) |
I354F |
probably benign |
Het |
| Abt1 |
T |
C |
13: 23,607,851 (GRCm39) |
Y51C |
possibly damaging |
Het |
| Actl9 |
T |
A |
17: 33,653,172 (GRCm39) |
Y411N |
possibly damaging |
Het |
| Ano4 |
A |
G |
10: 88,828,891 (GRCm39) |
V516A |
probably damaging |
Het |
| Bptf |
A |
T |
11: 106,945,614 (GRCm39) |
S2542T |
probably damaging |
Het |
| Card11 |
C |
T |
5: 140,862,163 (GRCm39) |
V1045M |
probably damaging |
Het |
| Ccdc121 |
T |
A |
5: 31,645,087 (GRCm39) |
I280K |
probably damaging |
Het |
| Cd300ld2 |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
11: 114,903,257 (GRCm39) |
|
probably benign |
Het |
| Cdh3 |
A |
G |
8: 107,268,122 (GRCm39) |
K386E |
possibly damaging |
Het |
| Cks1b |
C |
A |
3: 89,323,621 (GRCm39) |
Q49H |
probably damaging |
Het |
| Cyp3a11 |
A |
T |
5: 145,797,302 (GRCm39) |
M359K |
probably damaging |
Het |
| Cyp3a13 |
A |
T |
5: 137,908,228 (GRCm39) |
I207N |
probably benign |
Het |
| Dennd4c |
T |
A |
4: 86,717,701 (GRCm39) |
L566* |
probably null |
Het |
| Dhtkd1 |
A |
T |
2: 5,904,806 (GRCm39) |
D859E |
probably benign |
Het |
| Efcab6 |
T |
C |
15: 83,857,514 (GRCm39) |
D295G |
probably benign |
Het |
| Fcgbp |
A |
G |
7: 27,774,698 (GRCm39) |
T91A |
possibly damaging |
Het |
| Gm11569 |
GCAGCTGGGCCTGCAGCAGCTGGAAATGCAGCAGCTAGGACGGCAACA |
GCA |
11: 99,689,491 (GRCm39) |
|
probably benign |
Het |
| Gsdma3 |
A |
G |
11: 98,528,880 (GRCm39) |
K454E |
unknown |
Het |
| Herc1 |
T |
A |
9: 66,279,671 (GRCm39) |
I193N |
probably damaging |
Het |
| Kdm5b |
T |
A |
1: 134,556,423 (GRCm39) |
L1370Q |
probably damaging |
Het |
| Lrrc37 |
A |
T |
11: 103,509,027 (GRCm39) |
H980Q |
unknown |
Het |
| Map4 |
T |
G |
9: 109,901,682 (GRCm39) |
V965G |
probably damaging |
Het |
| Mkrn2os |
T |
C |
6: 115,562,444 (GRCm39) |
D173G |
probably benign |
Het |
| Ndfip2 |
A |
G |
14: 105,532,300 (GRCm39) |
D232G |
probably damaging |
Het |
| Nipal2 |
C |
T |
15: 34,584,875 (GRCm39) |
G231D |
probably damaging |
Het |
| Notch3 |
A |
T |
17: 32,373,737 (GRCm39) |
N490K |
probably damaging |
Het |
| Or5p68 |
A |
G |
7: 107,945,529 (GRCm39) |
S220P |
possibly damaging |
Het |
| Or8g50 |
T |
A |
9: 39,648,535 (GRCm39) |
C141* |
probably null |
Het |
| Prkar2a |
T |
C |
9: 108,610,326 (GRCm39) |
L185S |
probably damaging |
Het |
| Ptpn9 |
T |
G |
9: 56,968,287 (GRCm39) |
N542K |
probably damaging |
Het |
| Pus10 |
G |
A |
11: 23,662,326 (GRCm39) |
|
probably null |
Het |
| Pyroxd2 |
A |
G |
19: 42,728,828 (GRCm39) |
S191P |
probably benign |
Het |
| Rab15 |
T |
A |
12: 76,848,716 (GRCm39) |
K122* |
probably null |
Het |
| Rara |
A |
G |
11: 98,864,321 (GRCm39) |
N416S |
possibly damaging |
Het |
| Rims2 |
T |
C |
15: 39,339,916 (GRCm39) |
V870A |
possibly damaging |
Het |
| Sec16a |
T |
C |
2: 26,315,785 (GRCm39) |
T293A |
|
Het |
| Slc26a3 |
G |
A |
12: 31,520,949 (GRCm39) |
D718N |
probably benign |
Het |
| Slc44a5 |
G |
A |
3: 153,964,659 (GRCm39) |
V520I |
possibly damaging |
Het |
| Spata31e2 |
G |
A |
1: 26,724,410 (GRCm39) |
P257S |
probably damaging |
Het |
| Tgfb2 |
A |
T |
1: 186,422,924 (GRCm39) |
Y142N |
probably benign |
Het |
| Tgfbi |
A |
T |
13: 56,777,607 (GRCm39) |
I364F |
probably damaging |
Het |
| Tmem144 |
A |
C |
3: 79,734,174 (GRCm39) |
D176E |
probably benign |
Het |
| Tns4 |
A |
T |
11: 98,962,161 (GRCm39) |
L612Q |
probably damaging |
Het |
| Toe1 |
A |
G |
4: 116,663,692 (GRCm39) |
L76S |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,219,175 (GRCm39) |
F1971L |
probably damaging |
Het |
| Tsen54 |
G |
T |
11: 115,713,422 (GRCm39) |
V481F |
probably damaging |
Het |
| Uimc1 |
A |
G |
13: 55,223,381 (GRCm39) |
L297P |
probably damaging |
Het |
| Wnt8a |
T |
C |
18: 34,680,636 (GRCm39) |
Y334H |
probably damaging |
Het |
| Zfp281 |
A |
G |
1: 136,554,741 (GRCm39) |
D573G |
possibly damaging |
Het |
|
| Other mutations in Clpb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00418:Clpb
|
APN |
7 |
101,436,952 (GRCm39) |
missense |
probably benign |
|
|
IGL00778:Clpb
|
APN |
7 |
101,427,815 (GRCm39) |
nonsense |
probably null |
|
|
IGL00780:Clpb
|
APN |
7 |
101,427,815 (GRCm39) |
nonsense |
probably null |
|
|
IGL00951:Clpb
|
APN |
7 |
101,400,467 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01374:Clpb
|
APN |
7 |
101,422,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01542:Clpb
|
APN |
7 |
101,436,712 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02203:Clpb
|
APN |
7 |
101,428,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02989:Clpb
|
APN |
7 |
101,428,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03088:Clpb
|
APN |
7 |
101,434,656 (GRCm39) |
nonsense |
probably null |
|
|
Surfeit
|
UTSW |
7 |
101,360,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT1430001:Clpb
|
UTSW |
7 |
101,435,926 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0611:Clpb
|
UTSW |
7 |
101,436,956 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1565:Clpb
|
UTSW |
7 |
101,434,668 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1760:Clpb
|
UTSW |
7 |
101,435,905 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1879:Clpb
|
UTSW |
7 |
101,355,690 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1933:Clpb
|
UTSW |
7 |
101,428,418 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1938:Clpb
|
UTSW |
7 |
101,412,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2922:Clpb
|
UTSW |
7 |
101,372,035 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2923:Clpb
|
UTSW |
7 |
101,372,035 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2995:Clpb
|
UTSW |
7 |
101,428,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4492:Clpb
|
UTSW |
7 |
101,436,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5384:Clpb
|
UTSW |
7 |
101,428,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5973:Clpb
|
UTSW |
7 |
101,313,204 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6787:Clpb
|
UTSW |
7 |
101,312,866 (GRCm39) |
unclassified |
probably benign |
|
|
R7158:Clpb
|
UTSW |
7 |
101,313,039 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7225:Clpb
|
UTSW |
7 |
101,360,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7239:Clpb
|
UTSW |
7 |
101,360,662 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7482:Clpb
|
UTSW |
7 |
101,435,926 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7499:Clpb
|
UTSW |
7 |
101,371,935 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7547:Clpb
|
UTSW |
7 |
101,313,503 (GRCm39) |
splice site |
probably null |
|
|
R7769:Clpb
|
UTSW |
7 |
101,371,924 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8279:Clpb
|
UTSW |
7 |
101,355,695 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9376:Clpb
|
UTSW |
7 |
101,360,625 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9501:Clpb
|
UTSW |
7 |
101,427,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9623:Clpb
|
UTSW |
7 |
101,313,399 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9631:Clpb
|
UTSW |
7 |
101,434,605 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGATCGTGGCTAGCACAGG -3'
(R):5'- TGTAGCACTGAACCACCAGC -3'
Sequencing Primer
(F):5'- CTAGCACAGGGGCCGGC -3'
(R):5'- ACATGCCCAGACCCGTCTTG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation