Incidental Mutation 'R9281:Clcn4'
| ID |
703623 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clcn4
|
| Ensembl Gene |
ENSMUSG00000000605 |
| Gene Name |
chloride channel, voltage-sensitive 4 |
| Synonyms |
Clc4-2, Clcn4-2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9281 (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 T
at 7294813 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 316
(M316K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000619
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000619]
[ENSMUST00000209916]
[ENSMUST00000210061]
[ENSMUST00000210362]
[ENSMUST00000210594]
[ENSMUST00000211574]
|
| AlphaFold |
Q61418 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000619
AA Change: M316K
PolyPhen 2
Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000000619
Gene: ENSMUSG00000000605
AA Change: M316K
| 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 |
probably benign
Transcript: ENSMUST00000210061
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210362
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210594
AA Change: M256K
PolyPhen 2
Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211574
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
A |
G |
7: 41,274,184 (GRCm39) |
I102M |
possibly damaging |
Het |
| 2700049A03Rik |
G |
A |
12: 71,205,687 (GRCm39) |
V444I |
possibly damaging |
Het |
| Afdn |
T |
A |
17: 14,024,270 (GRCm39) |
C59S |
probably damaging |
Het |
| Ano1 |
A |
T |
7: 144,149,318 (GRCm39) |
Y848N |
probably damaging |
Het |
| Arap2 |
C |
T |
5: 62,906,848 (GRCm39) |
R57H |
probably damaging |
Het |
| Atp10b |
C |
T |
11: 43,116,458 (GRCm39) |
T935I |
probably benign |
Het |
| Bcl11b |
A |
G |
12: 107,882,257 (GRCm39) |
L686P |
possibly damaging |
Het |
| Bmp5 |
T |
C |
9: 75,683,856 (GRCm39) |
V161A |
probably benign |
Het |
| C1qtnf3 |
A |
G |
15: 10,978,607 (GRCm39) |
E196G |
probably benign |
Het |
| Cacng8 |
T |
A |
7: 3,460,608 (GRCm39) |
F130L |
probably damaging |
Het |
| Cap1 |
A |
G |
4: 122,766,226 (GRCm39) |
M4T |
probably benign |
Het |
| Ccdc57 |
T |
C |
11: 120,751,413 (GRCm39) |
K886E |
probably benign |
Het |
| Cdhr2 |
A |
C |
13: 54,881,703 (GRCm39) |
T1112P |
possibly damaging |
Het |
| Col22a1 |
A |
T |
15: 71,732,920 (GRCm39) |
D1099E |
unknown |
Het |
| Csmd3 |
A |
C |
15: 47,460,272 (GRCm39) |
N2595K |
|
Het |
| Ctdspl2 |
A |
G |
2: 121,841,063 (GRCm39) |
H451R |
probably benign |
Het |
| Cybrd1 |
A |
T |
2: 70,968,735 (GRCm39) |
T203S |
probably benign |
Het |
| Dhx29 |
A |
G |
13: 113,078,240 (GRCm39) |
N312S |
possibly damaging |
Het |
| Dhx30 |
A |
T |
9: 109,929,983 (GRCm39) |
S38T |
probably benign |
Het |
| Dync2i1 |
G |
A |
12: 116,211,677 (GRCm39) |
R277* |
probably null |
Het |
| Ercc8 |
G |
T |
13: 108,320,364 (GRCm39) |
A317S |
probably benign |
Het |
| Fndc3a |
T |
C |
14: 72,799,097 (GRCm39) |
T629A |
probably benign |
Het |
| Frmpd1 |
G |
T |
4: 45,284,127 (GRCm39) |
A983S |
probably benign |
Het |
| Gm14325 |
T |
A |
2: 177,473,597 (GRCm39) |
Y495F |
probably damaging |
Het |
| Gm5773 |
A |
T |
3: 93,680,891 (GRCm39) |
T188S |
probably benign |
Het |
| Gpsm1 |
C |
A |
2: 26,214,488 (GRCm39) |
N243K |
probably damaging |
Het |
| Inpp4a |
C |
G |
1: 37,410,850 (GRCm39) |
H339Q |
probably damaging |
Het |
| Kat2b |
A |
G |
17: 53,931,425 (GRCm39) |
D141G |
probably benign |
Het |
| Kdm4a |
A |
G |
4: 117,995,728 (GRCm39) |
V1003A |
probably damaging |
Het |
| Lrrc25 |
T |
A |
8: 71,073,246 (GRCm39) |
M276K |
probably benign |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Mcmdc2 |
G |
A |
1: 9,994,425 (GRCm39) |
G406D |
probably damaging |
Het |
| Mfhas1 |
G |
T |
8: 36,057,951 (GRCm39) |
A809S |
probably benign |
Het |
| Mier2 |
A |
T |
10: 79,378,294 (GRCm39) |
D376E |
probably benign |
Het |
| Mllt3 |
A |
C |
4: 87,707,566 (GRCm39) |
H464Q |
probably benign |
Het |
| Mtrex |
A |
T |
13: 113,046,443 (GRCm39) |
C302* |
probably null |
Het |
| Myo6 |
T |
A |
9: 80,162,164 (GRCm39) |
Y300* |
probably null |
Het |
| Myzap |
T |
C |
9: 71,493,482 (GRCm39) |
D31G |
unknown |
Het |
| Nfatc1 |
T |
C |
18: 80,741,190 (GRCm39) |
Y270C |
probably damaging |
Het |
| Nsd3 |
T |
C |
8: 26,152,961 (GRCm39) |
S434P |
probably benign |
Het |
| Or13p3 |
A |
G |
4: 118,566,592 (GRCm39) |
|
probably benign |
Het |
| Or1e26 |
T |
A |
11: 73,480,133 (GRCm39) |
M144L |
probably benign |
Het |
| Osbp2 |
T |
A |
11: 3,813,375 (GRCm39) |
T165S |
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,300,313 (GRCm39) |
V1590A |
probably damaging |
Het |
| Pramel7 |
A |
G |
2: 87,321,495 (GRCm39) |
L180P |
probably damaging |
Het |
| Prkd1 |
C |
T |
12: 50,536,758 (GRCm39) |
D109N |
probably benign |
Het |
| Ptger3 |
A |
G |
3: 157,273,090 (GRCm39) |
M146V |
probably benign |
Het |
| Pts |
A |
G |
9: 50,433,853 (GRCm39) |
V96A |
probably damaging |
Het |
| Rab11fip5 |
T |
C |
6: 85,318,834 (GRCm39) |
E685G |
probably benign |
Het |
| Rab27a |
C |
T |
9: 72,992,278 (GRCm39) |
T102I |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,153,545 (GRCm39) |
L2253P |
probably damaging |
Het |
| Rock1 |
C |
T |
18: 10,080,479 (GRCm39) |
A1022T |
probably benign |
Het |
| Rspry1 |
T |
A |
8: 95,363,259 (GRCm39) |
N259K |
probably damaging |
Het |
| Sdha |
A |
T |
13: 74,472,056 (GRCm39) |
Y604* |
probably null |
Het |
| Slc12a6 |
A |
G |
2: 112,164,754 (GRCm39) |
N151S |
probably benign |
Het |
| Slc26a5 |
T |
A |
5: 22,019,051 (GRCm39) |
D596V |
probably benign |
Het |
| Snrpa |
A |
G |
7: 26,891,051 (GRCm39) |
V140A |
probably benign |
Het |
| Spta1 |
T |
G |
1: 174,047,444 (GRCm39) |
V1696G |
probably damaging |
Het |
| St13 |
A |
T |
15: 81,261,927 (GRCm39) |
D179E |
probably damaging |
Het |
| Stpg4 |
T |
C |
17: 87,702,671 (GRCm39) |
D182G |
probably benign |
Het |
| Synm |
A |
T |
7: 67,386,048 (GRCm39) |
L538* |
probably null |
Het |
| Tigar |
A |
T |
6: 127,068,157 (GRCm39) |
L87H |
probably damaging |
Het |
| Tmem67 |
C |
A |
4: 12,079,962 (GRCm39) |
V110F |
possibly damaging |
Het |
| Trav6n-5 |
T |
A |
14: 53,342,744 (GRCm39) |
L94* |
probably null |
Het |
| Ttf1 |
A |
G |
2: 28,955,902 (GRCm39) |
H422R |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,619,926 (GRCm39) |
V15914A |
probably damaging |
Het |
| Vmn2r13 |
C |
A |
5: 109,303,953 (GRCm39) |
C826F |
probably damaging |
Het |
| Wwc1 |
C |
G |
11: 35,780,211 (GRCm39) |
G248A |
probably benign |
Het |
| Zfp120 |
G |
A |
2: 149,959,615 (GRCm39) |
H258Y |
probably damaging |
Het |
| Zfp142 |
A |
G |
1: 74,607,731 (GRCm39) |
Y1681H |
probably damaging |
Het |
| Zkscan3 |
A |
G |
13: 21,579,045 (GRCm39) |
L150P |
possibly damaging |
Het |
| Zscan4-ps1 |
G |
T |
7: 10,799,589 (GRCm39) |
F433L |
possibly damaging |
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 |
|
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 |
|
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'- AGAGATGAGCTCACTGGTGC -3'
(R):5'- CCAAGGGAAAGGCTCTAAGC -3'
Sequencing Primer
(F):5'- AGCTCACTGGTGCTCTGG -3'
(R):5'- AGGTCATTCTTTGCAGCC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation