Incidental Mutation 'R7562:Clcn4'
| ID |
585186 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clcn4
|
| Ensembl Gene |
ENSMUSG00000000605 |
| Gene Name |
chloride channel, voltage-sensitive 4 |
| Synonyms |
Clc4-2, Clcn4-2 |
| MMRRC Submission |
045627-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7562 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
7285308-7303837 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 7298081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 103
(W103R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000619
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000619]
[ENSMUST00000209916]
[ENSMUST00000210061]
[ENSMUST00000210362]
[ENSMUST00000210594]
[ENSMUST00000211574]
|
| AlphaFold |
Q61418 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000619
AA Change: W103R
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000000619
Gene: ENSMUSG00000000605
AA Change: W103R
| 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: ENSMUST00000209916
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210061
AA Change: W103R
PolyPhen 2
Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210362
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210594
AA Change: W43R
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211574
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim2 |
C |
T |
5: 36,030,563 (GRCm39) |
T544M |
probably benign |
Het |
| Adamts12 |
A |
G |
15: 11,270,697 (GRCm39) |
R651G |
probably benign |
Het |
| Adck1 |
G |
A |
12: 88,335,203 (GRCm39) |
D30N |
possibly damaging |
Het |
| Alcam |
T |
A |
16: 52,089,186 (GRCm39) |
I505F |
probably benign |
Het |
| Alms1 |
T |
C |
6: 85,597,394 (GRCm39) |
L740P |
probably damaging |
Het |
| Ankib1 |
C |
T |
5: 3,797,021 (GRCm39) |
D264N |
probably null |
Het |
| Arid2 |
T |
G |
15: 96,299,849 (GRCm39) |
H1787Q |
probably damaging |
Het |
| Asf1a |
C |
T |
10: 53,482,283 (GRCm39) |
R102* |
probably null |
Het |
| Atp2b1 |
C |
A |
10: 98,858,667 (GRCm39) |
|
probably null |
Het |
| Bdp1 |
T |
C |
13: 100,162,049 (GRCm39) |
D2291G |
probably benign |
Het |
| Bnip5 |
T |
C |
17: 29,128,778 (GRCm39) |
D45G |
probably benign |
Het |
| Brinp3 |
C |
G |
1: 146,777,748 (GRCm39) |
L732V |
possibly damaging |
Het |
| Catsperg2 |
A |
G |
7: 29,397,144 (GRCm39) |
F1120L |
probably benign |
Het |
| Ccdc80 |
C |
T |
16: 44,943,266 (GRCm39) |
A792V |
probably damaging |
Het |
| Cdcp3 |
T |
A |
7: 130,904,426 (GRCm39) |
D2381E |
unknown |
Het |
| Cenpe |
C |
T |
3: 134,954,395 (GRCm39) |
R1751W |
probably damaging |
Het |
| Cenpm |
T |
C |
15: 82,125,562 (GRCm39) |
I66V |
probably benign |
Het |
| Cntn2 |
T |
C |
1: 132,454,055 (GRCm39) |
D317G |
possibly damaging |
Het |
| Cwf19l1 |
G |
A |
19: 44,117,680 (GRCm39) |
T154M |
probably damaging |
Het |
| Cyp2a4 |
T |
A |
7: 26,012,321 (GRCm39) |
M368K |
possibly damaging |
Het |
| Dars1 |
A |
G |
1: 128,294,763 (GRCm39) |
S413P |
possibly damaging |
Het |
| Dscc1 |
A |
G |
15: 54,947,581 (GRCm39) |
Y200H |
probably benign |
Het |
| Dsn1 |
A |
T |
2: 156,842,792 (GRCm39) |
D183E |
probably damaging |
Het |
| Etfdh |
T |
C |
3: 79,530,886 (GRCm39) |
Y45C |
probably damaging |
Het |
| Fancc |
A |
T |
13: 63,550,867 (GRCm39) |
|
probably null |
Het |
| Fbxo34 |
T |
A |
14: 47,767,135 (GRCm39) |
M216K |
probably benign |
Het |
| Fer1l6 |
T |
G |
15: 58,432,331 (GRCm39) |
S293A |
probably benign |
Het |
| Foxn1 |
T |
A |
11: 78,261,958 (GRCm39) |
E137V |
probably damaging |
Het |
| Fshr |
A |
C |
17: 89,295,925 (GRCm39) |
F261V |
probably damaging |
Het |
| Gabrb3 |
C |
T |
7: 57,461,926 (GRCm39) |
R153* |
probably null |
Het |
| Garin1b |
T |
C |
6: 29,323,833 (GRCm39) |
V186A |
probably damaging |
Het |
| Gps2 |
C |
A |
11: 69,807,308 (GRCm39) |
N321K |
probably benign |
Het |
| Hdgf |
T |
C |
3: 87,813,993 (GRCm39) |
M20T |
possibly damaging |
Het |
| Igdcc4 |
G |
T |
9: 65,031,306 (GRCm39) |
A415S |
probably damaging |
Het |
| Kif26b |
A |
G |
1: 178,742,541 (GRCm39) |
E879G |
probably damaging |
Het |
| Krt13 |
T |
C |
11: 100,010,162 (GRCm39) |
Y273C |
probably damaging |
Het |
| Mab21l4 |
C |
A |
1: 93,087,689 (GRCm39) |
V55F |
probably damaging |
Het |
| Mag |
A |
G |
7: 30,608,559 (GRCm39) |
V185A |
possibly damaging |
Het |
| Map3k21 |
C |
T |
8: 126,665,539 (GRCm39) |
T576M |
probably damaging |
Het |
| Mtcl2 |
A |
C |
2: 156,895,509 (GRCm39) |
L332R |
probably damaging |
Het |
| Mtrr |
A |
G |
13: 68,714,336 (GRCm39) |
F468L |
probably damaging |
Het |
| Myb |
C |
T |
10: 21,017,653 (GRCm39) |
|
probably null |
Het |
| Naip5 |
T |
C |
13: 100,356,204 (GRCm39) |
Q1137R |
probably benign |
Het |
| Naip5 |
G |
T |
13: 100,356,205 (GRCm39) |
Q1137K |
not run |
Het |
| Nckap5l |
A |
T |
15: 99,321,166 (GRCm39) |
|
probably null |
Het |
| Nop9 |
C |
T |
14: 55,986,809 (GRCm39) |
R240W |
probably benign |
Het |
| Notch2 |
T |
C |
3: 98,020,430 (GRCm39) |
L775P |
probably damaging |
Het |
| Or13a27 |
T |
C |
7: 139,925,143 (GRCm39) |
Y253C |
probably damaging |
Het |
| Or4c116 |
C |
T |
2: 88,942,629 (GRCm39) |
V76I |
probably benign |
Het |
| Or55b10 |
T |
A |
7: 102,143,227 (GRCm39) |
I252F |
possibly damaging |
Het |
| Or7a40 |
T |
C |
16: 16,491,579 (GRCm39) |
N89D |
probably benign |
Het |
| Or8c9 |
A |
G |
9: 38,241,239 (GRCm39) |
T116A |
probably damaging |
Het |
| Oxa1l |
T |
A |
14: 54,600,934 (GRCm39) |
W136R |
probably damaging |
Het |
| Palm3 |
T |
A |
8: 84,748,136 (GRCm39) |
V7E |
possibly damaging |
Het |
| Pkhd1l1 |
C |
G |
15: 44,378,326 (GRCm39) |
R1027G |
possibly damaging |
Het |
| Prickle2 |
A |
T |
6: 92,352,929 (GRCm39) |
*902K |
probably null |
Het |
| Rassf7 |
C |
T |
7: 140,797,101 (GRCm39) |
R105* |
probably null |
Het |
| Septin9 |
T |
C |
11: 117,217,337 (GRCm39) |
|
probably null |
Het |
| Sorbs3 |
T |
C |
14: 70,444,976 (GRCm39) |
N34S |
probably benign |
Het |
| Sos2 |
T |
C |
12: 69,682,412 (GRCm39) |
T269A |
probably benign |
Het |
| Spata20 |
T |
G |
11: 94,373,379 (GRCm39) |
K497N |
probably benign |
Het |
| Speg |
A |
G |
1: 75,407,923 (GRCm39) |
D3206G |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,538,021 (GRCm39) |
T1865A |
probably damaging |
Het |
| Tmc5 |
A |
T |
7: 118,222,549 (GRCm39) |
Y83F |
probably benign |
Het |
| Tmem175 |
T |
A |
5: 108,789,715 (GRCm39) |
D103E |
probably damaging |
Het |
| Top2b |
A |
C |
14: 16,412,946 (GRCm38) |
M952L |
probably benign |
Het |
| Vmn2r6 |
T |
C |
3: 64,463,941 (GRCm39) |
I298V |
probably benign |
Het |
| Vmn2r69 |
T |
C |
7: 85,056,420 (GRCm39) |
I573V |
probably benign |
Het |
| Vmn2r93 |
A |
G |
17: 18,518,731 (GRCm39) |
I63M |
probably benign |
Het |
| Zfp568 |
G |
A |
7: 29,722,681 (GRCm39) |
R542H |
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 |
|
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'- AGTGACGAGCCATAGCAAACTTC -3'
(R):5'- TCGGGTTCAGTAGCAACGTC -3'
Sequencing Primer
(F):5'- TTCAACAGCGTCCCCAGG -3'
(R):5'- TCAGTAGCAACGTCATGTCATGG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation