Incidental Mutation 'R1427:Clcnkb'
| ID |
161350 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clcnkb
|
| Ensembl Gene |
ENSMUSG00000006216 |
| Gene Name |
chloride channel, voltage-sensitive Kb |
| Synonyms |
Clcnk1l, ClC-K2, Clcnk2, Clck2 |
| MMRRC Submission |
039483-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1427 (G1)
|
| Quality Score |
149 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
141131664-141143325 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 141132620 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 603
(L603P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101414
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006378]
[ENSMUST00000105788]
|
| AlphaFold |
Q9WUB6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006378
AA Change: L603P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000006378
Gene: ENSMUSG00000006216
AA Change: L603P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Voltage_CLC
|
102 |
514 |
1.5e-77 |
PFAM |
|
CBS
|
554 |
604 |
1.77e-2 |
SMART |
|
Blast:CBS
|
629 |
678 |
1e-20 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105788
AA Change: L603P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101414
Gene: ENSMUSG00000006216
AA Change: L603P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Voltage_CLC
|
102 |
514 |
3.6e-72 |
PFAM |
|
CBS
|
554 |
604 |
1.77e-2 |
SMART |
|
Pfam:CBS
|
623 |
676 |
3.3e-5 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000135486
AA Change: L16P
|
| SMART Domains |
Protein: ENSMUSP00000119059
Gene: ENSMUSG00000006216
AA Change: L16P
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2PFI|B
|
2 |
73 |
2e-28 |
PDB |
|
Blast:CBS
|
28 |
64 |
8e-16 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148320
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149247
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 87.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene is a member of the CLC family of voltage-gated chloride channels. The gene is located adjacent to a highly similar chloride channel gene on chromosome 4. This gene is syntenic with human CLCNKA (geneID:1187). [provided by RefSeq, Sep 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
A |
G |
4: 144,349,610 (GRCm39) |
N289S |
probably damaging |
Het |
| Abhd12b |
A |
G |
12: 70,229,193 (GRCm39) |
D223G |
probably damaging |
Het |
| Agap3 |
A |
G |
5: 24,681,691 (GRCm39) |
T333A |
probably benign |
Het |
| Arhgap28 |
C |
A |
17: 68,164,459 (GRCm39) |
Q554H |
probably damaging |
Het |
| Dchs1 |
T |
C |
7: 105,415,398 (GRCm39) |
D626G |
probably benign |
Het |
| Eml3 |
T |
C |
19: 8,911,225 (GRCm39) |
Y285H |
probably damaging |
Het |
| Ganab |
A |
G |
19: 8,893,030 (GRCm39) |
T945A |
probably benign |
Het |
| Iars1 |
A |
T |
13: 49,857,745 (GRCm39) |
|
probably null |
Het |
| Kalrn |
A |
G |
16: 33,796,124 (GRCm39) |
F1217S |
probably damaging |
Het |
| Lipf |
T |
C |
19: 33,943,000 (GRCm39) |
F103L |
probably damaging |
Het |
| Lpar2 |
C |
A |
8: 70,276,700 (GRCm39) |
A163E |
possibly damaging |
Het |
| Myh1 |
T |
C |
11: 67,110,573 (GRCm39) |
Y1495H |
probably damaging |
Het |
| Or5p63 |
A |
G |
7: 107,811,301 (GRCm39) |
I145T |
probably benign |
Het |
| Ppp3ca |
T |
A |
3: 136,627,675 (GRCm39) |
L413H |
probably damaging |
Het |
| Ptpn7 |
T |
C |
1: 135,062,192 (GRCm39) |
V46A |
possibly damaging |
Het |
| Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
| Sec23ip |
C |
T |
7: 128,378,609 (GRCm39) |
R808C |
probably damaging |
Het |
| Slc25a26 |
T |
C |
6: 94,487,828 (GRCm39) |
S96P |
probably damaging |
Het |
| Stard13 |
G |
A |
5: 150,969,456 (GRCm39) |
R898W |
probably damaging |
Het |
| Tenm4 |
T |
C |
7: 96,492,255 (GRCm39) |
V1063A |
probably benign |
Het |
| Tm6sf2 |
T |
G |
8: 70,528,232 (GRCm39) |
M127R |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,583,448 (GRCm39) |
W22482R |
probably damaging |
Het |
| Zfp384 |
T |
C |
6: 125,001,847 (GRCm39) |
L109P |
probably damaging |
Het |
|
| Other mutations in Clcnkb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02430:Clcnkb
|
APN |
4 |
141,136,701 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02750:Clcnkb
|
APN |
4 |
141,132,673 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02894:Clcnkb
|
APN |
4 |
141,135,130 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0193:Clcnkb
|
UTSW |
4 |
141,139,627 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1555:Clcnkb
|
UTSW |
4 |
141,139,050 (GRCm39) |
splice site |
probably null |
|
|
R1572:Clcnkb
|
UTSW |
4 |
141,134,406 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1756:Clcnkb
|
UTSW |
4 |
141,142,525 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1776:Clcnkb
|
UTSW |
4 |
141,142,500 (GRCm39) |
splice site |
probably benign |
|
|
R1879:Clcnkb
|
UTSW |
4 |
141,135,130 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2149:Clcnkb
|
UTSW |
4 |
141,135,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2180:Clcnkb
|
UTSW |
4 |
141,136,819 (GRCm39) |
splice site |
probably null |
|
|
R2307:Clcnkb
|
UTSW |
4 |
141,139,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4393:Clcnkb
|
UTSW |
4 |
141,139,547 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4758:Clcnkb
|
UTSW |
4 |
141,135,160 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5416:Clcnkb
|
UTSW |
4 |
141,141,211 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5906:Clcnkb
|
UTSW |
4 |
141,139,610 (GRCm39) |
missense |
probably benign |
|
|
R6185:Clcnkb
|
UTSW |
4 |
141,141,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6299:Clcnkb
|
UTSW |
4 |
141,138,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6803:Clcnkb
|
UTSW |
4 |
141,132,639 (GRCm39) |
missense |
probably benign |
|
|
R6877:Clcnkb
|
UTSW |
4 |
141,132,143 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7205:Clcnkb
|
UTSW |
4 |
141,135,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7330:Clcnkb
|
UTSW |
4 |
141,137,923 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7332:Clcnkb
|
UTSW |
4 |
141,141,243 (GRCm39) |
missense |
probably null |
0.83 |
|
R7393:Clcnkb
|
UTSW |
4 |
141,136,756 (GRCm39) |
missense |
probably benign |
|
|
R7800:Clcnkb
|
UTSW |
4 |
141,141,833 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7889:Clcnkb
|
UTSW |
4 |
141,137,915 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8671:Clcnkb
|
UTSW |
4 |
141,139,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8903:Clcnkb
|
UTSW |
4 |
141,135,160 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
Z1177:Clcnkb
|
UTSW |
4 |
141,135,262 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAGCCATTAGCCAAGATATCCTG -3'
(R):5'- GACTCTCAAGATGCCCGGAAACTC -3'
Sequencing Primer
(F):5'- ATTAGCCAAGATATCCTGGAGAC -3'
(R):5'- cccaccagataaccagtttcc -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation