Incidental Mutation 'IGL02430:Clcnkb'
| ID |
293101 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Clcnkb
|
| Ensembl Gene |
ENSMUSG00000006216 |
| Gene Name |
chloride channel, voltage-sensitive Kb |
| Synonyms |
Clcnk1l, ClC-K2, Clcnk2, Clck2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02430
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
141131664-141143325 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 141136701 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Leucine
at position 388
(W388L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101414
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006378]
[ENSMUST00000105788]
|
| AlphaFold |
Q9WUB6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006378
AA Change: W388L
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000006378
Gene: ENSMUSG00000006216
AA Change: W388L
| 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 |
possibly damaging
Transcript: ENSMUST00000105788
AA Change: W388L
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000101414
Gene: ENSMUSG00000006216
AA Change: W388L
| 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 |
probably benign
Transcript: ENSMUST00000135486
|
| SMART Domains |
Protein: ENSMUSP00000119059
Gene: ENSMUSG00000006216
| 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: ENSMUST00000145725
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148320
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149247
|
| Coding Region Coverage |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap33 |
T |
C |
7: 30,222,185 (GRCm39) |
E1249G |
probably benign |
Het |
| C8a |
G |
A |
4: 104,674,719 (GRCm39) |
T540I |
probably damaging |
Het |
| Cnbp |
A |
T |
6: 87,822,160 (GRCm39) |
Y114* |
probably null |
Het |
| Col13a1 |
A |
G |
10: 61,710,530 (GRCm39) |
V337A |
probably benign |
Het |
| Cyp2e1 |
A |
G |
7: 140,350,139 (GRCm39) |
K275E |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,421,178 (GRCm39) |
V414A |
probably benign |
Het |
| Ebf1 |
G |
A |
11: 44,815,403 (GRCm39) |
|
probably null |
Het |
| Gabbr1 |
C |
T |
17: 37,367,200 (GRCm39) |
R198* |
probably null |
Het |
| Gpaa1 |
T |
C |
15: 76,216,388 (GRCm39) |
S36P |
possibly damaging |
Het |
| Hipk1 |
A |
G |
3: 103,667,971 (GRCm39) |
V532A |
probably damaging |
Het |
| Klhl18 |
A |
T |
9: 110,266,469 (GRCm39) |
C217S |
probably benign |
Het |
| Lmntd1 |
T |
A |
6: 145,359,140 (GRCm39) |
T191S |
probably benign |
Het |
| Ltbp2 |
T |
A |
12: 84,846,175 (GRCm39) |
Y925F |
probably damaging |
Het |
| Lvrn |
A |
G |
18: 47,027,797 (GRCm39) |
I871V |
probably benign |
Het |
| Mrgprb1 |
A |
G |
7: 48,097,409 (GRCm39) |
S168P |
possibly damaging |
Het |
| Or11g24 |
A |
G |
14: 50,662,608 (GRCm39) |
I211V |
probably benign |
Het |
| Or5p70 |
A |
T |
7: 107,994,929 (GRCm39) |
I201F |
probably benign |
Het |
| Pcnx1 |
T |
A |
12: 81,966,096 (GRCm39) |
N754K |
possibly damaging |
Het |
| Plaa |
A |
T |
4: 94,470,810 (GRCm39) |
M442K |
probably benign |
Het |
| Pole3 |
T |
C |
4: 62,443,056 (GRCm39) |
N28S |
possibly damaging |
Het |
| Pramel18 |
A |
G |
4: 101,767,477 (GRCm39) |
Y242C |
probably benign |
Het |
| Prlr |
A |
G |
15: 10,325,477 (GRCm39) |
K4E |
probably damaging |
Het |
| Rp1l1 |
A |
T |
14: 64,266,735 (GRCm39) |
T774S |
probably benign |
Het |
| Selp |
C |
A |
1: 163,953,952 (GRCm39) |
P84Q |
probably damaging |
Het |
| Sh3bp4 |
T |
A |
1: 89,080,885 (GRCm39) |
W901R |
probably null |
Het |
| Slc6a20b |
A |
G |
9: 123,426,305 (GRCm39) |
Y527H |
probably damaging |
Het |
| Slit3 |
T |
A |
11: 35,068,601 (GRCm39) |
|
probably null |
Het |
| Spidr |
C |
T |
16: 15,932,774 (GRCm39) |
D169N |
probably damaging |
Het |
| Sstr2 |
T |
C |
11: 113,515,630 (GRCm39) |
L183P |
probably damaging |
Het |
| Tmem62 |
C |
T |
2: 120,817,143 (GRCm39) |
T233I |
probably damaging |
Het |
| Uba7 |
A |
G |
9: 107,856,667 (GRCm39) |
|
probably benign |
Het |
| Ubc |
A |
T |
5: 125,464,634 (GRCm39) |
I231N |
probably damaging |
Het |
| Ubl3 |
A |
T |
5: 148,488,766 (GRCm39) |
D8E |
probably benign |
Het |
| Unc5a |
A |
G |
13: 55,150,295 (GRCm39) |
I465M |
probably damaging |
Het |
| Vmn2r106 |
A |
G |
17: 20,499,158 (GRCm39) |
I251T |
probably benign |
Het |
| Vwa8 |
T |
C |
14: 79,172,085 (GRCm39) |
|
probably null |
Het |
| Washc5 |
A |
G |
15: 59,238,140 (GRCm39) |
Y195H |
probably damaging |
Het |
| Wdr27 |
A |
C |
17: 15,122,062 (GRCm39) |
S615A |
probably damaging |
Het |
| Zfp160 |
T |
A |
17: 21,245,792 (GRCm39) |
L114H |
possibly damaging |
Het |
| Zfp523 |
T |
C |
17: 28,414,113 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Clcnkb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R1427:Clcnkb
|
UTSW |
4 |
141,132,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation