Incidental Mutation 'R6154:Clcn4'
| ID |
489445 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clcn4
|
| Ensembl Gene |
ENSMUSG00000000605 |
| Gene Name |
chloride channel, voltage-sensitive 4 |
| Synonyms |
Clc4-2, Clcn4-2 |
| MMRRC Submission |
044301-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6154 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
7285308-7303837 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 7294481 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 367
(T367A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147562
(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: T427A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000000619
Gene: ENSMUSG00000000605
AA Change: T427A
| 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
AA Change: T396A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210318
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210362
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210444
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210594
AA Change: T367A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211551
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211574
|
| Meta Mutation Damage Score |
0.1978 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.8%
|
| Validation Efficiency |
97% (70/72) |
| 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 |
|---|
| Acss3 |
T |
G |
10: 106,959,210 (GRCm39) |
I79L |
probably benign |
Het |
| Adam6a |
C |
T |
12: 113,509,292 (GRCm39) |
T555I |
probably benign |
Het |
| Adap1 |
A |
G |
5: 139,293,531 (GRCm39) |
V60A |
possibly damaging |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Angpt1 |
T |
C |
15: 42,387,051 (GRCm39) |
E101G |
probably damaging |
Het |
| Asxl2 |
T |
C |
12: 3,546,593 (GRCm39) |
V459A |
possibly damaging |
Het |
| Cabs1 |
C |
T |
5: 88,127,613 (GRCm39) |
T88I |
possibly damaging |
Het |
| Camta2 |
G |
A |
11: 70,569,211 (GRCm39) |
A578V |
probably damaging |
Het |
| Cdc16 |
A |
G |
8: 13,818,609 (GRCm39) |
N316D |
possibly damaging |
Het |
| Chrm3 |
T |
A |
13: 9,928,476 (GRCm39) |
M187L |
possibly damaging |
Het |
| Clcn7 |
T |
C |
17: 25,376,928 (GRCm39) |
S654P |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,701,387 (GRCm39) |
T2510S |
unknown |
Het |
| Crisp4 |
T |
C |
1: 18,193,012 (GRCm39) |
E192G |
possibly damaging |
Het |
| Dmbt1 |
T |
A |
7: 130,711,370 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
T |
G |
15: 28,204,177 (GRCm39) |
L18R |
probably benign |
Het |
| Dnah9 |
T |
G |
11: 65,746,164 (GRCm39) |
D3983A |
probably benign |
Het |
| Dock5 |
C |
A |
14: 68,097,361 (GRCm39) |
V71L |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,584,427 (GRCm39) |
V610A |
probably damaging |
Het |
| Dynlrb2 |
A |
G |
8: 117,242,428 (GRCm39) |
Y86C |
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,903,799 (GRCm39) |
I267V |
probably damaging |
Het |
| Gaa |
A |
G |
11: 119,169,178 (GRCm39) |
Y575C |
probably damaging |
Het |
| Gm8094 |
T |
A |
14: 42,934,020 (GRCm39) |
D24V |
probably benign |
Het |
| Grina |
T |
C |
15: 76,133,087 (GRCm39) |
I244T |
possibly damaging |
Het |
| Haus6 |
A |
G |
4: 86,501,993 (GRCm39) |
L626P |
possibly damaging |
Het |
| Hexd |
A |
T |
11: 121,112,097 (GRCm39) |
H439L |
probably benign |
Het |
| Ifna12 |
A |
T |
4: 88,521,531 (GRCm39) |
C5* |
probably null |
Het |
| Igf2bp2 |
G |
T |
16: 21,894,843 (GRCm39) |
S300* |
probably null |
Het |
| Ighv6-5 |
T |
C |
12: 114,380,362 (GRCm39) |
R71G |
probably benign |
Het |
| Lrrc37 |
A |
G |
11: 103,504,969 (GRCm39) |
V2333A |
probably benign |
Het |
| Lrrn4cl |
T |
C |
19: 8,829,252 (GRCm39) |
S77P |
probably damaging |
Het |
| Mast4 |
A |
G |
13: 102,923,929 (GRCm39) |
L302P |
probably damaging |
Het |
| Mink1 |
T |
C |
11: 70,500,927 (GRCm39) |
V831A |
possibly damaging |
Het |
| Mme |
T |
A |
3: 63,207,674 (GRCm39) |
I40N |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,077,438 (GRCm39) |
T858A |
probably benign |
Het |
| Ncbp3 |
T |
A |
11: 72,940,700 (GRCm39) |
Y67N |
probably damaging |
Het |
| Nedd1 |
T |
A |
10: 92,534,104 (GRCm39) |
I349F |
possibly damaging |
Het |
| Nek11 |
A |
T |
9: 105,200,368 (GRCm39) |
*81K |
probably null |
Het |
| Nrip1 |
A |
G |
16: 76,090,718 (GRCm39) |
Y280H |
probably damaging |
Het |
| Obsl1 |
T |
C |
1: 75,476,788 (GRCm39) |
D722G |
probably benign |
Het |
| Or10ag55-ps1 |
T |
G |
2: 87,139,902 (GRCm39) |
S256R |
probably benign |
Het |
| Or2m12 |
A |
T |
16: 19,105,181 (GRCm39) |
I104K |
probably damaging |
Het |
| Or4c29 |
A |
G |
2: 88,740,734 (GRCm39) |
M1T |
probably null |
Het |
| Or5i1 |
A |
G |
2: 87,613,100 (GRCm39) |
D72G |
possibly damaging |
Het |
| Or6c7 |
C |
T |
10: 129,323,545 (GRCm39) |
T222I |
probably damaging |
Het |
| Pcdhb6 |
A |
G |
18: 37,467,966 (GRCm39) |
I296V |
probably benign |
Het |
| Pcnx2 |
G |
T |
8: 126,489,552 (GRCm39) |
L1681M |
probably damaging |
Het |
| Pdlim5 |
T |
C |
3: 141,983,674 (GRCm39) |
R360G |
possibly damaging |
Het |
| Peli2 |
C |
T |
14: 48,488,051 (GRCm39) |
Q81* |
probably null |
Het |
| Pitpnb |
C |
T |
5: 111,486,263 (GRCm39) |
Q56* |
probably null |
Het |
| Ppp1r3a |
A |
G |
6: 14,754,603 (GRCm39) |
S215P |
possibly damaging |
Het |
| Prrt3 |
A |
G |
6: 113,471,989 (GRCm39) |
Y728H |
probably damaging |
Het |
| Rsf1 |
A |
AAGGCGACGG |
7: 97,229,111 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Sbno1 |
T |
C |
5: 124,516,542 (GRCm39) |
H1277R |
possibly damaging |
Het |
| Siglecg |
C |
A |
7: 43,061,441 (GRCm39) |
N481K |
possibly damaging |
Het |
| Sirt6 |
C |
T |
10: 81,462,339 (GRCm39) |
G20D |
probably damaging |
Het |
| Sit1 |
C |
A |
4: 43,482,981 (GRCm39) |
R89S |
probably benign |
Het |
| Slc7a12 |
A |
G |
3: 14,546,094 (GRCm39) |
R80G |
probably damaging |
Het |
| Smok3c |
T |
A |
5: 138,062,747 (GRCm39) |
M78K |
probably benign |
Het |
| Stk10 |
T |
A |
11: 32,553,654 (GRCm39) |
|
probably null |
Het |
| Tada2b |
A |
G |
5: 36,634,008 (GRCm39) |
V190A |
probably damaging |
Het |
| Tnk1 |
C |
T |
11: 69,747,780 (GRCm39) |
V41I |
probably damaging |
Het |
| Tpr |
T |
A |
1: 150,299,567 (GRCm39) |
V1146E |
probably benign |
Het |
| Trappc9 |
T |
C |
15: 72,929,930 (GRCm39) |
D142G |
probably benign |
Het |
| Trpm3 |
T |
C |
19: 22,965,178 (GRCm39) |
Y1558H |
probably damaging |
Het |
| Unc5c |
C |
A |
3: 141,383,914 (GRCm39) |
S97R |
probably damaging |
Het |
| Vmn1r172 |
T |
C |
7: 23,359,583 (GRCm39) |
I156T |
probably damaging |
Het |
| Vmn2r51 |
A |
T |
7: 9,821,921 (GRCm39) |
M588K |
possibly damaging |
Het |
| Vps26a |
T |
G |
10: 62,304,119 (GRCm39) |
E117D |
probably damaging |
Het |
| Zfp451 |
A |
T |
1: 33,842,627 (GRCm39) |
|
probably benign |
Het |
| Zfp534 |
C |
A |
4: 147,759,145 (GRCm39) |
R508I |
probably benign |
Het |
| Zp3r |
C |
T |
1: 130,526,642 (GRCm39) |
C187Y |
probably 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 |
|
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'- AGCAGACTGTGTGGTCTAATAGG -3'
(R):5'- AGGTTATTGCGGTGACAGCC -3'
Sequencing Primer
(F):5'- GCTTTCAAGAAAGGTTAACGTTTC -3'
(R):5'- CCGTCACCGCCATCGTG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation