Incidental Mutation 'R5035:Clcnka'
| ID |
389493 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clcnka
|
| Ensembl Gene |
ENSMUSG00000033770 |
| Gene Name |
chloride channel, voltage-sensitive Ka |
| Synonyms |
CLC-K1, Clcnk1 |
| MMRRC Submission |
042626-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5035 (G1)
|
| Quality Score |
207 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
141111922-141126017 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 141122469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 179
(Y179*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122396
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042617]
[ENSMUST00000105790]
[ENSMUST00000133676]
|
| AlphaFold |
Q9WUB7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000042617
AA Change: Y179*
|
| SMART Domains |
Protein: ENSMUSP00000048520
Gene: ENSMUSG00000033770
AA Change: Y179*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
Pfam:Voltage_CLC
|
102 |
514 |
2.1e-69 |
PFAM |
|
CBS
|
554 |
604 |
6.54e-6 |
SMART |
|
Pfam:CBS
|
623 |
679 |
5.7e-9 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000105790
AA Change: Y179*
|
| SMART Domains |
Protein: ENSMUSP00000101416
Gene: ENSMUSG00000033770
AA Change: Y179*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
Pfam:Voltage_CLC
|
101 |
514 |
3.1e-75 |
PFAM |
|
CBS
|
554 |
604 |
6.54e-6 |
SMART |
|
Blast:CBS
|
629 |
678 |
1e-20 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000133676
AA Change: Y179*
|
| SMART Domains |
Protein: ENSMUSP00000122396
Gene: ENSMUSG00000033770
AA Change: Y179*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
Pfam:Voltage_CLC
|
101 |
191 |
1.6e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148320
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149247
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150334
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
98% (46/47) |
| 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 CLCNKB (geneID:1188). Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous mutation of this gene results in increased urine volume and decreased urine osmolarity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat1 |
T |
C |
9: 53,494,810 (GRCm39) |
I361V |
probably benign |
Het |
| Afp |
A |
G |
5: 90,655,764 (GRCm39) |
D583G |
probably benign |
Het |
| Bcas3 |
C |
T |
11: 85,434,771 (GRCm39) |
A552V |
probably damaging |
Het |
| Bfsp2 |
T |
G |
9: 103,357,065 (GRCm39) |
T121P |
probably benign |
Het |
| Bicra |
C |
T |
7: 15,713,349 (GRCm39) |
R951Q |
possibly damaging |
Het |
| Cdc40 |
G |
A |
10: 40,725,809 (GRCm39) |
T220I |
probably benign |
Het |
| Cdk5rap3 |
T |
C |
11: 96,806,911 (GRCm39) |
|
probably benign |
Het |
| Creb3l1 |
T |
A |
2: 91,817,431 (GRCm39) |
I361F |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,454,175 (GRCm39) |
Y3557C |
probably damaging |
Het |
| Dab2ip |
A |
G |
2: 35,599,953 (GRCm39) |
S190G |
probably benign |
Het |
| Dbx1 |
T |
C |
7: 49,282,284 (GRCm39) |
H307R |
unknown |
Het |
| Dock8 |
C |
A |
19: 25,063,571 (GRCm39) |
P258T |
probably damaging |
Het |
| Eml6 |
T |
C |
11: 29,804,187 (GRCm39) |
I305V |
probably benign |
Het |
| Frem3 |
T |
A |
8: 81,342,543 (GRCm39) |
F1612Y |
probably damaging |
Het |
| Fubp1 |
A |
G |
3: 151,920,488 (GRCm39) |
T76A |
probably benign |
Het |
| Glmp |
G |
C |
3: 88,233,951 (GRCm39) |
|
probably benign |
Het |
| Gm20918 |
A |
G |
Y: 5,045,992 (GRCm39) |
Q183R |
probably benign |
Het |
| Krt28 |
T |
C |
11: 99,257,650 (GRCm39) |
N397S |
probably benign |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Map3k13 |
T |
C |
16: 21,740,421 (GRCm39) |
Y583H |
probably benign |
Het |
| Mcm3 |
A |
T |
1: 20,873,642 (GRCm39) |
|
probably benign |
Het |
| Misp |
T |
C |
10: 79,663,790 (GRCm39) |
V588A |
probably benign |
Het |
| Or1j19 |
A |
G |
2: 36,676,903 (GRCm39) |
D122G |
probably damaging |
Het |
| Or2z9 |
T |
A |
8: 72,853,922 (GRCm39) |
L106H |
probably damaging |
Het |
| Or4c105 |
A |
T |
2: 88,648,443 (GRCm39) |
K309N |
probably benign |
Het |
| Or51a43 |
G |
A |
7: 103,717,614 (GRCm39) |
T208I |
possibly damaging |
Het |
| Or8g37 |
G |
A |
9: 39,731,390 (GRCm39) |
A152T |
possibly damaging |
Het |
| Osbpl9 |
A |
G |
4: 108,923,364 (GRCm39) |
F449L |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,431,720 (GRCm39) |
D3358G |
probably damaging |
Het |
| Prodh2 |
A |
T |
7: 30,205,904 (GRCm39) |
S247C |
possibly damaging |
Het |
| Prr23a3 |
G |
A |
9: 98,747,183 (GRCm39) |
E46K |
possibly damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,016,214 (GRCm39) |
I837V |
probably benign |
Het |
| Rabgap1l |
A |
C |
1: 160,551,606 (GRCm39) |
F263V |
probably damaging |
Het |
| Rnf4 |
A |
G |
5: 34,508,683 (GRCm39) |
K182E |
probably damaging |
Het |
| Slc24a2 |
G |
T |
4: 86,929,943 (GRCm39) |
R469S |
possibly damaging |
Het |
| Speer2 |
A |
G |
16: 69,654,829 (GRCm39) |
|
probably null |
Het |
| Tg |
C |
A |
15: 66,553,662 (GRCm39) |
|
probably null |
Het |
| Tns1 |
G |
A |
1: 73,992,979 (GRCm39) |
|
probably benign |
Het |
| Top2b |
G |
T |
14: 16,409,966 (GRCm38) |
A878S |
probably benign |
Het |
| Trgc4 |
G |
T |
13: 19,536,506 (GRCm39) |
R188L |
unknown |
Het |
| Ugt3a1 |
G |
A |
15: 9,361,704 (GRCm39) |
R160Q |
probably benign |
Het |
| Ush2a |
G |
T |
1: 188,643,005 (GRCm39) |
L4122F |
probably damaging |
Het |
|
| Other mutations in Clcnka |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00580:Clcnka
|
APN |
4 |
141,118,712 (GRCm39) |
nonsense |
probably null |
|
|
IGL01420:Clcnka
|
APN |
4 |
141,116,643 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01726:Clcnka
|
APN |
4 |
141,120,051 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02676:Clcnka
|
APN |
4 |
141,120,094 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02983:Clcnka
|
APN |
4 |
141,117,442 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03182:Clcnka
|
APN |
4 |
141,121,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
free_trade
|
UTSW |
4 |
141,122,469 (GRCm39) |
nonsense |
probably null |
|
|
R0646:Clcnka
|
UTSW |
4 |
141,123,917 (GRCm39) |
missense |
probably benign |
|
|
R1292:Clcnka
|
UTSW |
4 |
141,122,903 (GRCm39) |
splice site |
probably benign |
|
|
R1479:Clcnka
|
UTSW |
4 |
141,116,758 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1864:Clcnka
|
UTSW |
4 |
141,120,113 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3806:Clcnka
|
UTSW |
4 |
141,114,601 (GRCm39) |
missense |
probably null |
0.05 |
|
R5617:Clcnka
|
UTSW |
4 |
141,116,628 (GRCm39) |
missense |
probably null |
0.01 |
|
R5869:Clcnka
|
UTSW |
4 |
141,122,276 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6048:Clcnka
|
UTSW |
4 |
141,121,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7042:Clcnka
|
UTSW |
4 |
141,118,691 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7068:Clcnka
|
UTSW |
4 |
141,114,421 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8016:Clcnka
|
UTSW |
4 |
141,117,463 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8292:Clcnka
|
UTSW |
4 |
141,125,272 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGCTCTCACCACTGAAGG -3'
(R):5'- TCTTTACCCTGGGCCTTAAGG -3'
Sequencing Primer
(F):5'- GAAGACTGTGGCCACGC -3'
(R):5'- CCTTAAGGCGGAAGAGGAGG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation