Incidental Mutation 'IGL02750:Clcnkb'
| ID |
306271 |
| 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 # |
IGL02750
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
141131664-141143325 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 141132673 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101414
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006378]
[ENSMUST00000105788]
|
| AlphaFold |
Q9WUB6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000006378
|
| SMART Domains |
Protein: ENSMUSP00000006378
Gene: ENSMUSG00000006216
| 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 null
Transcript: ENSMUST00000105788
|
| SMART Domains |
Protein: ENSMUSP00000101414
Gene: ENSMUSG00000006216
| 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: 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amotl1 |
T |
C |
9: 14,460,087 (GRCm39) |
K884R |
probably benign |
Het |
| Ano3 |
T |
A |
2: 110,496,329 (GRCm39) |
|
probably benign |
Het |
| Baz2b |
C |
A |
2: 59,799,002 (GRCm39) |
S374I |
possibly damaging |
Het |
| Brd4 |
G |
A |
17: 32,417,353 (GRCm39) |
|
probably benign |
Het |
| Cd3g |
C |
A |
9: 44,882,608 (GRCm39) |
|
probably benign |
Het |
| Ckmt1 |
C |
T |
2: 121,194,096 (GRCm39) |
|
probably benign |
Het |
| Dkkl1 |
C |
T |
7: 44,859,536 (GRCm39) |
|
probably null |
Het |
| Ehmt1 |
G |
A |
2: 24,753,881 (GRCm39) |
T161I |
probably damaging |
Het |
| Ern2 |
A |
G |
7: 121,780,629 (GRCm39) |
|
probably benign |
Het |
| Fmnl2 |
T |
C |
2: 52,993,709 (GRCm39) |
I368T |
possibly damaging |
Het |
| Gabra5 |
G |
T |
7: 57,157,739 (GRCm39) |
S25Y |
probably benign |
Het |
| Gemin7 |
C |
T |
7: 19,299,344 (GRCm39) |
V84M |
probably null |
Het |
| Gm17654 |
A |
G |
14: 43,815,656 (GRCm39) |
|
probably benign |
Het |
| Grk6 |
T |
C |
13: 55,599,356 (GRCm39) |
F186S |
probably damaging |
Het |
| Gtf2ird2 |
A |
G |
5: 134,245,731 (GRCm39) |
H663R |
probably damaging |
Het |
| Gtf3c1 |
T |
A |
7: 125,275,684 (GRCm39) |
I581F |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,854,127 (GRCm39) |
|
probably benign |
Het |
| Hook3 |
A |
T |
8: 26,585,782 (GRCm39) |
|
probably benign |
Het |
| Ints4 |
T |
A |
7: 97,166,964 (GRCm39) |
|
probably null |
Het |
| Kpna6 |
T |
C |
4: 129,555,170 (GRCm39) |
N20D |
probably damaging |
Het |
| Krtap29-1 |
T |
C |
11: 99,869,510 (GRCm39) |
S124G |
probably benign |
Het |
| Krtap4-16 |
C |
A |
11: 99,742,106 (GRCm39) |
R98L |
possibly damaging |
Het |
| Lrrc28 |
T |
C |
7: 67,181,431 (GRCm39) |
D268G |
probably damaging |
Het |
| Mcm6 |
T |
A |
1: 128,271,209 (GRCm39) |
Q470L |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,181,067 (GRCm39) |
H1180R |
probably benign |
Het |
| Nxpe3 |
C |
A |
16: 55,680,738 (GRCm39) |
V285L |
probably benign |
Het |
| Or10al2 |
T |
A |
17: 37,983,500 (GRCm39) |
C195* |
probably null |
Het |
| Or14a260 |
T |
A |
7: 85,984,752 (GRCm39) |
N284I |
probably damaging |
Het |
| Or4k37 |
A |
G |
2: 111,159,633 (GRCm39) |
R290G |
probably damaging |
Het |
| Pdcd1 |
A |
G |
1: 93,967,269 (GRCm39) |
|
probably benign |
Het |
| Pnkp |
A |
G |
7: 44,509,611 (GRCm39) |
|
probably benign |
Het |
| Pou4f2 |
A |
T |
8: 79,161,692 (GRCm39) |
F304I |
probably damaging |
Het |
| Rita1 |
G |
A |
5: 120,747,716 (GRCm39) |
T194M |
possibly damaging |
Het |
| Rnpc3 |
T |
C |
3: 113,415,588 (GRCm39) |
T150A |
possibly damaging |
Het |
| Sema3b |
T |
C |
9: 107,480,363 (GRCm39) |
T168A |
probably benign |
Het |
| Skint5 |
T |
A |
4: 113,396,559 (GRCm39) |
M1205L |
unknown |
Het |
| Sox13 |
A |
C |
1: 133,311,534 (GRCm39) |
I566S |
probably benign |
Het |
| Tbc1d32 |
T |
C |
10: 56,074,587 (GRCm39) |
T209A |
possibly damaging |
Het |
| Tonsl |
G |
T |
15: 76,517,589 (GRCm39) |
P710Q |
probably damaging |
Het |
| Trpm5 |
T |
C |
7: 142,628,221 (GRCm39) |
H1018R |
possibly damaging |
Het |
| Ubr2 |
A |
T |
17: 47,280,208 (GRCm39) |
M647K |
probably benign |
Het |
| Ubr7 |
A |
T |
12: 102,737,537 (GRCm39) |
T395S |
possibly damaging |
Het |
| Uri1 |
G |
A |
7: 37,666,906 (GRCm39) |
R176* |
probably null |
Het |
| Vmn1r188 |
A |
T |
13: 22,272,900 (GRCm39) |
I285F |
probably damaging |
Het |
| Vmn2r116 |
T |
A |
17: 23,616,608 (GRCm39) |
|
probably benign |
Het |
| Vmn2r2 |
C |
A |
3: 64,024,823 (GRCm39) |
C586F |
probably damaging |
Het |
| Vmn2r96 |
T |
A |
17: 18,802,851 (GRCm39) |
W62R |
probably benign |
Het |
| Zfp24 |
A |
T |
18: 24,150,410 (GRCm39) |
S167T |
possibly damaging |
Het |
| Zfp462 |
A |
G |
4: 55,060,236 (GRCm39) |
K1254R |
probably null |
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 |
|
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