Incidental Mutation 'R2307:Clcnkb'
| ID |
244623 |
| 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 |
040306-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2307 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
141131664-141143325 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 141139640 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 121
(S121P)
|
| 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: S121P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000006378
Gene: ENSMUSG00000006216
AA Change: S121P
| 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: S121P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101414
Gene: ENSMUSG00000006216
AA Change: S121P
| 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 |
noncoding transcript
Transcript: ENSMUST00000145725
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148320
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149247
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.9%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot5 |
T |
C |
12: 84,122,375 (GRCm39) |
F320L |
possibly damaging |
Het |
| Alox12e |
T |
C |
11: 70,212,087 (GRCm39) |
K170R |
probably damaging |
Het |
| Ano2 |
T |
C |
6: 125,969,849 (GRCm39) |
S722P |
probably benign |
Het |
| Cep192 |
A |
G |
18: 67,946,970 (GRCm39) |
Y215C |
probably benign |
Het |
| Ces2g |
A |
G |
8: 105,695,044 (GRCm39) |
N555S |
probably benign |
Het |
| Cfap58 |
C |
T |
19: 47,950,925 (GRCm39) |
Q429* |
probably null |
Het |
| Cltb |
T |
A |
13: 54,746,564 (GRCm39) |
E67D |
probably damaging |
Het |
| Ddhd1 |
A |
T |
14: 45,846,447 (GRCm39) |
L581Q |
probably damaging |
Het |
| Dnajc3 |
T |
C |
14: 119,190,633 (GRCm39) |
|
probably null |
Het |
| Fgf14 |
T |
A |
14: 124,221,234 (GRCm39) |
N190I |
probably damaging |
Het |
| Galnt17 |
T |
G |
5: 130,929,460 (GRCm39) |
Y449S |
probably damaging |
Het |
| Grin3a |
C |
T |
4: 49,793,033 (GRCm39) |
|
probably null |
Het |
| Gxylt2 |
A |
G |
6: 100,764,173 (GRCm39) |
N286S |
probably damaging |
Het |
| H2-K2 |
A |
G |
17: 34,216,113 (GRCm39) |
V120A |
probably benign |
Het |
| Inpp5f |
T |
C |
7: 128,296,034 (GRCm39) |
V168A |
probably damaging |
Het |
| Kif1a |
G |
T |
1: 93,006,491 (GRCm39) |
H59N |
probably damaging |
Het |
| Krt24 |
T |
C |
11: 99,175,456 (GRCm39) |
Q193R |
possibly damaging |
Het |
| Krtap5-4 |
C |
A |
7: 141,857,351 (GRCm39) |
S7* |
probably null |
Het |
| Ltn1 |
A |
G |
16: 87,229,312 (GRCm39) |
|
probably null |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Mep1b |
A |
T |
18: 21,221,632 (GRCm39) |
D194V |
probably damaging |
Het |
| Mettl25b |
A |
T |
3: 87,834,162 (GRCm39) |
M171K |
possibly damaging |
Het |
| Orc3 |
C |
T |
4: 34,586,503 (GRCm39) |
V382M |
probably damaging |
Het |
| Pclo |
T |
A |
5: 14,728,665 (GRCm39) |
|
probably benign |
Het |
| Pcolce |
T |
C |
5: 137,607,356 (GRCm39) |
H45R |
probably damaging |
Het |
| Prf1 |
T |
C |
10: 61,138,942 (GRCm39) |
V300A |
possibly damaging |
Het |
| Prorp |
T |
C |
12: 55,351,101 (GRCm39) |
F137L |
probably damaging |
Het |
| Prss53 |
T |
C |
7: 127,490,037 (GRCm39) |
I18V |
probably benign |
Het |
| Rnase2b |
A |
G |
14: 51,400,188 (GRCm39) |
T90A |
probably benign |
Het |
| Rpap1 |
G |
A |
2: 119,614,247 (GRCm39) |
P50L |
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sec16b |
G |
A |
1: 157,363,062 (GRCm39) |
V298I |
probably damaging |
Het |
| Smarcd3 |
C |
T |
5: 24,800,746 (GRCm39) |
R156Q |
probably damaging |
Het |
| St6galnac2 |
C |
T |
11: 116,572,731 (GRCm39) |
A242T |
probably damaging |
Het |
| Syce1l |
T |
C |
8: 114,369,937 (GRCm39) |
|
probably null |
Het |
| Tcam1 |
T |
C |
11: 106,174,940 (GRCm39) |
C132R |
probably damaging |
Het |
| Trpa1 |
T |
C |
1: 14,982,605 (GRCm39) |
I84V |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,717,342 (GRCm39) |
R455* |
probably null |
Het |
| Ubl5 |
T |
A |
9: 20,557,876 (GRCm39) |
|
probably benign |
Het |
| Ubr2 |
T |
A |
17: 47,277,141 (GRCm39) |
K779* |
probably null |
Het |
| Ugt1a10 |
A |
G |
1: 87,983,669 (GRCm39) |
I156V |
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,239,854 (GRCm39) |
T3513A |
probably damaging |
Het |
| Vmn1r20 |
C |
T |
6: 57,409,121 (GRCm39) |
T149I |
probably benign |
Het |
| Zfp804a |
T |
A |
2: 82,087,201 (GRCm39) |
D343E |
probably benign |
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 |
|
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 |
|
|
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'- GACCTGGATGTGTTTCCCTG -3'
(R):5'- TCCTGAGCGCTGGGATTAAAG -3'
Sequencing Primer
(F):5'- TGAGACTGGGCTTCCAAGG -3'
(R):5'- TTAAAGGGGTGCGCCAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation