Incidental Mutation 'R5624:Clcn4'
ID |
441730 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clcn4
|
Ensembl Gene |
ENSMUSG00000000605 |
Gene Name |
chloride channel, voltage-sensitive 4 |
Synonyms |
Clc4-2, Clcn4-2 |
MMRRC Submission |
043163-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5624 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
7285308-7303837 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 7291943 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 623
(V623L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000000619
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000619]
[ENSMUST00000210061]
[ENSMUST00000210594]
[ENSMUST00000211574]
|
AlphaFold |
Q61418 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000000619
AA Change: V623L
PolyPhen 2
Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000000619 Gene: ENSMUSG00000000605 AA Change: V623L
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 benign
Transcript: ENSMUST00000210061
AA Change: V592L
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210444
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210594
AA Change: V563L
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211574
|
Meta Mutation Damage Score |
0.6939 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
98% (47/48) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adad2 |
T |
A |
8: 120,341,844 (GRCm39) |
|
probably null |
Het |
Aoah |
A |
T |
13: 21,179,649 (GRCm39) |
N372I |
probably damaging |
Het |
Ash1l |
T |
A |
3: 88,892,916 (GRCm39) |
D1598E |
probably damaging |
Het |
Bcas2 |
T |
C |
3: 103,080,577 (GRCm39) |
C72R |
probably benign |
Het |
Car9 |
T |
A |
4: 43,509,146 (GRCm39) |
F238Y |
probably benign |
Het |
Ccnd1 |
T |
C |
7: 144,491,749 (GRCm39) |
S97G |
probably benign |
Het |
Cfap52 |
C |
G |
11: 67,818,184 (GRCm39) |
C509S |
possibly damaging |
Het |
Dnajc11 |
T |
C |
4: 152,063,967 (GRCm39) |
V483A |
probably benign |
Het |
E2f8 |
G |
T |
7: 48,527,709 (GRCm39) |
D144E |
probably damaging |
Het |
Epb41l1 |
G |
A |
2: 156,375,691 (GRCm39) |
|
probably benign |
Het |
Fam186a |
A |
C |
15: 99,839,628 (GRCm39) |
H2205Q |
possibly damaging |
Het |
Fhit |
A |
G |
14: 10,421,534 (GRCm38) |
S85P |
probably damaging |
Het |
Fzd8 |
G |
A |
18: 9,213,268 (GRCm39) |
G117S |
unknown |
Het |
Gsdmc4 |
A |
G |
15: 63,764,503 (GRCm39) |
M379T |
possibly damaging |
Het |
Hemk1 |
T |
C |
9: 107,208,727 (GRCm39) |
R157G |
probably benign |
Het |
Il10 |
A |
G |
1: 130,951,940 (GRCm39) |
M158V |
probably benign |
Het |
Jmjd1c |
G |
A |
10: 67,069,193 (GRCm39) |
M1656I |
probably damaging |
Het |
Kit |
A |
T |
5: 75,770,054 (GRCm39) |
K155N |
probably benign |
Het |
Lmtk3 |
C |
A |
7: 45,436,286 (GRCm39) |
A114E |
probably damaging |
Het |
Lztr1 |
A |
G |
16: 17,329,993 (GRCm39) |
|
probably benign |
Het |
Mras |
A |
G |
9: 99,293,538 (GRCm39) |
F34S |
probably damaging |
Het |
Myo1c |
A |
G |
11: 75,553,461 (GRCm39) |
T516A |
probably damaging |
Het |
Nme8 |
A |
C |
13: 19,862,038 (GRCm39) |
V197G |
possibly damaging |
Het |
Or13p5 |
T |
A |
4: 118,592,568 (GRCm39) |
Y281N |
probably damaging |
Het |
Or8k39 |
T |
C |
2: 86,563,149 (GRCm39) |
D269G |
probably benign |
Het |
Pcdhb9 |
A |
T |
18: 37,534,459 (GRCm39) |
Y151F |
probably benign |
Het |
Pcnx2 |
C |
T |
8: 126,488,262 (GRCm39) |
|
probably null |
Het |
Plekhg4 |
T |
C |
8: 106,107,382 (GRCm39) |
F892S |
probably damaging |
Het |
Prmt3 |
T |
A |
7: 49,430,082 (GRCm39) |
F62I |
probably damaging |
Het |
Ralgapa1 |
T |
C |
12: 55,659,523 (GRCm39) |
Y1999C |
probably damaging |
Het |
Rims2 |
A |
T |
15: 39,208,809 (GRCm39) |
Q204L |
possibly damaging |
Het |
Slc6a16 |
T |
G |
7: 44,910,532 (GRCm39) |
H352Q |
probably benign |
Het |
Snx9 |
T |
A |
17: 5,942,084 (GRCm39) |
C70* |
probably null |
Het |
Srprb |
A |
G |
9: 103,074,800 (GRCm39) |
I114T |
probably damaging |
Het |
Tas2r119 |
A |
T |
15: 32,178,114 (GRCm39) |
I227F |
probably damaging |
Het |
Tasor2 |
A |
G |
13: 3,634,996 (GRCm39) |
S604P |
possibly damaging |
Het |
Tg |
A |
T |
15: 66,709,906 (GRCm39) |
Y163F |
probably benign |
Het |
Tm2d2 |
A |
G |
8: 25,512,784 (GRCm39) |
T211A |
probably damaging |
Het |
Tmem132b |
A |
G |
5: 125,699,710 (GRCm39) |
S83G |
probably benign |
Het |
Trav9-4 |
T |
C |
14: 53,913,886 (GRCm39) |
S47P |
probably benign |
Het |
Vmn2r8 |
T |
A |
5: 108,950,325 (GRCm39) |
H174L |
probably damaging |
Het |
Xrcc1 |
A |
G |
7: 24,259,270 (GRCm39) |
D85G |
possibly damaging |
Het |
Zfp106 |
C |
G |
2: 120,362,438 (GRCm39) |
A34P |
probably damaging |
Het |
Zfp608 |
A |
T |
18: 55,031,344 (GRCm39) |
N865K |
probably damaging |
Het |
Zscan5b |
A |
G |
7: 6,233,518 (GRCm39) |
D114G |
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 |
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 |
R8069:Clcn4
|
UTSW |
7 |
7,299,758 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- GGAAGTCCTCAACTCAAGGAAC -3'
(R):5'- GCTGATGCCTTTGGGAAAGAAG -3'
Sequencing Primer
(F):5'- AGGAACTCCCTGGAACTCATGTG -3'
(R):5'- GGATTTATGAAGCCCACATCCATCTG -3'
|
Posted On |
2016-11-08 |