Incidental Mutation 'R8069:Clcn4'
| ID |
620165 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clcn4
|
| Ensembl Gene |
ENSMUSG00000000605 |
| Gene Name |
chloride channel, voltage-sensitive 4 |
| Synonyms |
Clc4-2, Clcn4-2 |
| MMRRC Submission |
067504-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8069 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
7285308-7303837 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 7299758 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 24
(R24G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000619
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000619]
[ENSMUST00000209916]
[ENSMUST00000210061]
[ENSMUST00000210362]
[ENSMUST00000210594]
[ENSMUST00000211574]
|
| AlphaFold |
Q61418 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000619
AA Change: R24G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000000619
Gene: ENSMUSG00000000605
AA Change: R24G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
57 |
79 |
N/A |
INTRINSIC |
|
Pfam:Voltage_CLC
|
149 |
552 |
2.7e-111 |
PFAM |
|
CBS
|
596 |
646 |
1.07e-1 |
SMART |
|
CBS
|
687 |
734 |
4.92e-10 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209916
AA Change: R24G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210061
AA Change: R24G
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210362
AA Change: R24G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210594
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211574
AA Change: R24G
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. Chloride channel 4 has an evolutionary conserved CpG island and is conserved in both mouse and hamster. This gene is mapped in close proximity to APXL (Apical protein Xenopus laevis-like) and OA1 (Ocular albinism type I), which are both located on the human X chromosome at band p22.3. The physiological role of chloride channel 4 remains unknown but may contribute to the pathogenesis of neuronal disorders. Alternate splicing results in two transcript variants that encode different proteins. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no obvious phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdhppt |
T |
A |
9: 4,296,823 (GRCm39) |
D261V |
probably benign |
Het |
| Abca8a |
T |
C |
11: 109,980,876 (GRCm39) |
Y54C |
probably damaging |
Het |
| Adad2 |
T |
C |
8: 120,342,746 (GRCm39) |
S431P |
probably benign |
Het |
| Adam18 |
A |
G |
8: 25,118,246 (GRCm39) |
Y557H |
possibly damaging |
Het |
| Adam5 |
C |
T |
8: 25,303,541 (GRCm39) |
E129K |
probably damaging |
Het |
| Adgra2 |
T |
C |
8: 27,609,251 (GRCm39) |
V824A |
probably benign |
Het |
| Armc12 |
A |
T |
17: 28,751,410 (GRCm39) |
K135* |
probably null |
Het |
| Aup1 |
C |
T |
6: 83,032,910 (GRCm39) |
Q215* |
probably null |
Het |
| AW146154 |
G |
A |
7: 41,129,935 (GRCm39) |
R394C |
probably benign |
Het |
| Canx |
T |
G |
11: 50,202,531 (GRCm39) |
D25A |
possibly damaging |
Het |
| Ccnf |
A |
G |
17: 24,443,989 (GRCm39) |
L593P |
probably damaging |
Het |
| Cd40 |
A |
T |
2: 164,898,695 (GRCm39) |
I41F |
unknown |
Het |
| Cdh1 |
C |
T |
8: 107,384,405 (GRCm39) |
A291V |
probably benign |
Het |
| Cdhr2 |
A |
T |
13: 54,878,883 (GRCm39) |
I963F |
probably damaging |
Het |
| Cenpe |
G |
A |
3: 134,949,479 (GRCm39) |
G88D |
probably damaging |
Het |
| Cep295 |
T |
A |
9: 15,233,882 (GRCm39) |
T2305S |
possibly damaging |
Het |
| Cimap1a |
A |
T |
7: 140,430,215 (GRCm39) |
T201S |
probably benign |
Het |
| Cnot7 |
T |
C |
8: 40,960,514 (GRCm39) |
N98S |
possibly damaging |
Het |
| Defa3 |
T |
G |
8: 21,778,288 (GRCm39) |
C91G |
probably damaging |
Het |
| Dennd2c |
T |
C |
3: 103,072,446 (GRCm39) |
F844L |
probably damaging |
Het |
| Dido1 |
T |
C |
2: 180,302,705 (GRCm39) |
D1733G |
probably benign |
Het |
| Dnah7b |
G |
A |
1: 46,263,866 (GRCm39) |
W2116* |
probably null |
Het |
| Dnaja3 |
T |
C |
16: 4,502,131 (GRCm39) |
V45A |
probably benign |
Het |
| Efcab7 |
T |
A |
4: 99,717,615 (GRCm39) |
S11T |
unknown |
Het |
| Enpp2 |
T |
A |
15: 54,710,697 (GRCm39) |
K744N |
probably damaging |
Het |
| Fam171b |
CCAGCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGCAGC |
2: 83,643,218 (GRCm39) |
|
probably benign |
Het |
| Fdxacb1 |
T |
G |
9: 50,680,135 (GRCm39) |
F107C |
probably damaging |
Het |
| Fnbp1 |
A |
T |
2: 30,926,606 (GRCm39) |
Y433N |
probably damaging |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Gm15446 |
T |
A |
5: 110,088,306 (GRCm39) |
Y6* |
probably null |
Het |
| Gm45140 |
T |
C |
6: 87,796,551 (GRCm39) |
H66R |
|
Het |
| Grin3b |
G |
A |
10: 79,812,868 (GRCm39) |
R981Q |
unknown |
Het |
| Ipp |
T |
G |
4: 116,368,053 (GRCm39) |
I95M |
probably benign |
Het |
| Iqca1 |
A |
G |
1: 89,973,466 (GRCm39) |
F769L |
probably damaging |
Het |
| Jkamp |
C |
T |
12: 72,136,832 (GRCm39) |
L67F |
probably damaging |
Het |
| Llgl2 |
T |
A |
11: 115,744,112 (GRCm39) |
M773K |
probably damaging |
Het |
| Man2b1 |
A |
G |
8: 85,823,674 (GRCm39) |
T973A |
probably benign |
Het |
| Mcm2 |
T |
C |
6: 88,869,039 (GRCm39) |
Y271C |
probably damaging |
Het |
| Msl2 |
T |
C |
9: 100,978,159 (GRCm39) |
S178P |
probably benign |
Het |
| Myo7a |
G |
T |
7: 97,732,833 (GRCm39) |
S648* |
probably null |
Het |
| Neurl1b |
G |
T |
17: 26,651,201 (GRCm39) |
V158F |
probably damaging |
Het |
| Nkain2 |
A |
G |
10: 32,766,034 (GRCm39) |
V142A |
unknown |
Het |
| Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
| Oma1 |
A |
T |
4: 103,176,232 (GRCm39) |
|
probably benign |
Het |
| Or10ag58 |
A |
T |
2: 87,265,364 (GRCm39) |
N178Y |
possibly damaging |
Het |
| Or5aq7 |
A |
G |
2: 86,938,411 (GRCm39) |
Y107H |
probably damaging |
Het |
| Plekhg6 |
T |
C |
6: 125,340,009 (GRCm39) |
T784A |
probably benign |
Het |
| Prtg |
T |
C |
9: 72,752,265 (GRCm39) |
I217T |
probably benign |
Het |
| Ptx4 |
T |
C |
17: 25,341,753 (GRCm39) |
F76S |
probably damaging |
Het |
| Rap1b |
A |
C |
10: 117,657,514 (GRCm39) |
I55S |
probably damaging |
Het |
| Sftpd |
T |
C |
14: 40,894,538 (GRCm39) |
T294A |
probably benign |
Het |
| Spg11 |
C |
T |
2: 121,943,637 (GRCm39) |
V172I |
probably benign |
Het |
| Srms |
T |
A |
2: 180,848,751 (GRCm39) |
H363L |
probably damaging |
Het |
| Tbc1d13 |
A |
T |
2: 30,037,415 (GRCm39) |
M266L |
probably damaging |
Het |
| Tbc1d2 |
A |
C |
4: 46,649,737 (GRCm39) |
C100G |
possibly damaging |
Het |
| Tdg |
A |
T |
10: 82,474,627 (GRCm39) |
Q39L |
probably benign |
Het |
| Tiam1 |
G |
A |
16: 89,586,146 (GRCm39) |
A1547V |
probably benign |
Het |
| Trpm1 |
A |
G |
7: 63,858,718 (GRCm39) |
E380G |
possibly damaging |
Het |
| Unc13b |
T |
G |
4: 43,177,597 (GRCm39) |
D2808E |
unknown |
Het |
| Usp25 |
A |
T |
16: 76,865,943 (GRCm39) |
D287V |
possibly damaging |
Het |
| Zfp648 |
A |
T |
1: 154,079,862 (GRCm39) |
Q7L |
probably benign |
Het |
| Zfp931 |
T |
C |
2: 177,709,709 (GRCm39) |
R226G |
probably benign |
Het |
| Zfyve9 |
T |
A |
4: 108,542,215 (GRCm39) |
E201D |
probably benign |
Het |
|
| Other mutations in Clcn4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00978:Clcn4
|
APN |
7 |
7,290,672 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01090:Clcn4
|
APN |
7 |
7,297,035 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01650:Clcn4
|
APN |
7 |
7,287,280 (GRCm39) |
splice site |
probably benign |
|
|
IGL02404:Clcn4
|
APN |
7 |
7,290,857 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02493:Clcn4
|
APN |
7 |
7,287,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02556:Clcn4
|
APN |
7 |
7,299,065 (GRCm39) |
missense |
probably benign |
|
|
IGL02661:Clcn4
|
APN |
7 |
7,294,730 (GRCm39) |
splice site |
probably null |
|
|
IGL02816:Clcn4
|
APN |
7 |
7,298,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02882:Clcn4
|
APN |
7 |
7,293,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03205:Clcn4
|
APN |
7 |
7,293,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03289:Clcn4
|
APN |
7 |
7,287,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Delipidated
|
UTSW |
7 |
7,296,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0183:Clcn4
|
UTSW |
7 |
7,298,090 (GRCm39) |
nonsense |
probably null |
|
|
R0379:Clcn4
|
UTSW |
7 |
7,299,791 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0555:Clcn4
|
UTSW |
7 |
7,293,503 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0890:Clcn4
|
UTSW |
7 |
7,291,964 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1463:Clcn4
|
UTSW |
7 |
7,299,763 (GRCm39) |
nonsense |
probably null |
|
|
R1549:Clcn4
|
UTSW |
7 |
7,294,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1563:Clcn4
|
UTSW |
7 |
7,296,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1966:Clcn4
|
UTSW |
7 |
7,287,184 (GRCm39) |
makesense |
probably null |
|
|
R2764:Clcn4
|
UTSW |
7 |
7,299,798 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2874:Clcn4
|
UTSW |
7 |
7,293,520 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4023:Clcn4
|
UTSW |
7 |
7,293,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4024:Clcn4
|
UTSW |
7 |
7,293,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4152:Clcn4
|
UTSW |
7 |
7,297,833 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4154:Clcn4
|
UTSW |
7 |
7,297,833 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4298:Clcn4
|
UTSW |
7 |
7,299,737 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4535:Clcn4
|
UTSW |
7 |
7,290,813 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4574:Clcn4
|
UTSW |
7 |
7,290,804 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4977:Clcn4
|
UTSW |
7 |
7,294,436 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5158:Clcn4
|
UTSW |
7 |
7,294,618 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5302:Clcn4
|
UTSW |
7 |
7,297,050 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5369:Clcn4
|
UTSW |
7 |
7,299,032 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5624:Clcn4
|
UTSW |
7 |
7,291,943 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5626:Clcn4
|
UTSW |
7 |
7,292,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5723:Clcn4
|
UTSW |
7 |
7,294,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6154:Clcn4
|
UTSW |
7 |
7,294,481 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6259:Clcn4
|
UTSW |
7 |
7,294,529 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6396:Clcn4
|
UTSW |
7 |
7,297,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6783:Clcn4
|
UTSW |
7 |
7,302,181 (GRCm39) |
unclassified |
probably benign |
|
|
R7320:Clcn4
|
UTSW |
7 |
7,294,827 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7562:Clcn4
|
UTSW |
7 |
7,298,081 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7586:Clcn4
|
UTSW |
7 |
7,296,958 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7752:Clcn4
|
UTSW |
7 |
7,296,936 (GRCm39) |
missense |
probably benign |
|
|
R7860:Clcn4
|
UTSW |
7 |
7,296,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7872:Clcn4
|
UTSW |
7 |
7,290,780 (GRCm39) |
missense |
probably benign |
|
|
R7895:Clcn4
|
UTSW |
7 |
7,298,167 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8083:Clcn4
|
UTSW |
7 |
7,294,427 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9185:Clcn4
|
UTSW |
7 |
7,287,197 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9281:Clcn4
|
UTSW |
7 |
7,294,813 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9333:Clcn4
|
UTSW |
7 |
7,292,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9682:Clcn4
|
UTSW |
7 |
7,299,797 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0019:Clcn4
|
UTSW |
7 |
7,294,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Clcn4
|
UTSW |
7 |
7,297,755 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1177:Clcn4
|
UTSW |
7 |
7,296,039 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCCAGGTATCTGCCATTGTC -3'
(R):5'- CTTAGTTTCTCGGTGGAGCC -3'
Sequencing Primer
(F):5'- AGGTATCTGCCATTGTCACTCTCAG -3'
(R):5'- GCGCTCTGCAGACACTC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation