Incidental Mutation 'R1555:Clcnkb'
| ID |
170213 |
| 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 |
039594-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1555 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
141131664-141143325 bp(-) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 141139050 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101414
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006378]
[ENSMUST00000006378]
[ENSMUST00000105788]
[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: 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 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 |
noncoding transcript
Transcript: ENSMUST00000145725
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148320
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149247
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.0%
|
| Validation Efficiency |
96% (43/45) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
A |
G |
11: 105,865,727 (GRCm39) |
|
probably null |
Het |
| Adamts1 |
T |
A |
16: 85,594,776 (GRCm39) |
T358S |
probably benign |
Het |
| Ate1 |
A |
T |
7: 130,110,821 (GRCm39) |
F169I |
probably benign |
Het |
| Cdkl4 |
T |
A |
17: 80,851,043 (GRCm39) |
|
probably benign |
Het |
| Col6a4 |
C |
T |
9: 105,878,085 (GRCm39) |
R1964Q |
possibly damaging |
Het |
| Dcakd |
C |
T |
11: 102,891,039 (GRCm39) |
V17I |
probably damaging |
Het |
| Dcdc5 |
T |
G |
2: 106,214,480 (GRCm39) |
|
noncoding transcript |
Het |
| Erc2 |
T |
A |
14: 27,733,622 (GRCm39) |
D557E |
probably damaging |
Het |
| Grid2 |
A |
T |
6: 64,406,668 (GRCm39) |
D676V |
possibly damaging |
Het |
| Hebp2 |
G |
T |
10: 18,420,163 (GRCm39) |
T90K |
possibly damaging |
Het |
| Igkv10-96 |
C |
T |
6: 68,609,365 (GRCm39) |
|
probably benign |
Het |
| Mier3 |
T |
A |
13: 111,844,893 (GRCm39) |
N248K |
probably damaging |
Het |
| Myo5b |
A |
T |
18: 74,702,853 (GRCm39) |
I15F |
probably damaging |
Het |
| Neurl3 |
A |
G |
1: 36,305,613 (GRCm39) |
V198A |
probably benign |
Het |
| Notch2 |
C |
A |
3: 98,038,656 (GRCm39) |
N1266K |
possibly damaging |
Het |
| Nup107 |
A |
G |
10: 117,587,395 (GRCm39) |
|
probably benign |
Het |
| Or52e8b |
T |
C |
7: 104,673,729 (GRCm39) |
I153V |
probably benign |
Het |
| Or6d14 |
A |
T |
6: 116,533,787 (GRCm39) |
I134F |
probably damaging |
Het |
| Phf3 |
G |
T |
1: 30,844,958 (GRCm39) |
H1334N |
possibly damaging |
Het |
| Phyhd1 |
T |
A |
2: 30,164,718 (GRCm39) |
I100N |
probably damaging |
Het |
| Rad21l |
T |
A |
2: 151,500,348 (GRCm39) |
T224S |
probably benign |
Het |
| Rxra |
C |
T |
2: 27,638,690 (GRCm39) |
A231V |
probably benign |
Het |
| Sac3d1 |
T |
C |
19: 6,168,435 (GRCm39) |
D61G |
probably damaging |
Het |
| Sbf1 |
A |
G |
15: 89,189,279 (GRCm39) |
Y481H |
probably damaging |
Het |
| Spg11 |
T |
C |
2: 121,927,858 (GRCm39) |
E642G |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,006,315 (GRCm39) |
Y159C |
probably damaging |
Het |
| Sry |
C |
G |
Y: 2,662,975 (GRCm39) |
Q228H |
unknown |
Het |
| Tedc1 |
G |
T |
12: 113,120,117 (GRCm39) |
|
probably benign |
Het |
| Tmem200a |
A |
T |
10: 25,869,782 (GRCm39) |
D162E |
probably damaging |
Het |
| Tmprss11e |
T |
A |
5: 86,863,447 (GRCm39) |
Q206L |
probably damaging |
Het |
| Tpra1 |
A |
G |
6: 88,887,185 (GRCm39) |
N175S |
probably damaging |
Het |
| Ttll10 |
T |
C |
4: 156,119,596 (GRCm39) |
E601G |
probably benign |
Het |
| Ttll6 |
G |
T |
11: 96,036,408 (GRCm39) |
D346Y |
probably damaging |
Het |
| U2surp |
A |
G |
9: 95,348,630 (GRCm39) |
V874A |
probably damaging |
Het |
| Vwa5b1 |
T |
C |
4: 138,332,788 (GRCm39) |
K258R |
probably benign |
Het |
| Xkr6 |
A |
G |
14: 64,056,374 (GRCm39) |
Y95C |
unknown |
Het |
| Zfp180 |
T |
C |
7: 23,800,999 (GRCm39) |
|
probably benign |
Het |
| Zfp90 |
A |
G |
8: 107,150,727 (GRCm39) |
T147A |
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 |
|
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'- TGACCTCGATGCTGAACAGGACAC -3'
(R):5'- TTTGATGCTGGGCCATTCCTGC -3'
Sequencing Primer
(F):5'- GCGTCTCAGGAGGACTTCTATC -3'
(R):5'- ggggggaggggaagaag -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation