Incidental Mutation 'R7872:Clcn4'
| ID |
608178 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clcn4
|
| Ensembl Gene |
ENSMUSG00000000605 |
| Gene Name |
chloride channel, voltage-sensitive 4 |
| Synonyms |
Clc4-2, Clcn4-2 |
| MMRRC Submission |
045924-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7872 (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 7290780 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 673
(N673S)
|
| 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: N673S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000000619
Gene: ENSMUSG00000000605
AA Change: N673S
| 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: N642S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210594
AA Change: N613S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211574
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acta2 |
C |
T |
19: 34,220,839 (GRCm39) |
D290N |
probably damaging |
Het |
| Adam18 |
T |
C |
8: 25,101,116 (GRCm39) |
D682G |
probably benign |
Het |
| Ankrd46 |
A |
G |
15: 36,485,989 (GRCm39) |
V88A |
possibly damaging |
Het |
| Ankub1 |
T |
A |
3: 57,572,807 (GRCm39) |
K305I |
probably damaging |
Het |
| Atrn |
T |
A |
2: 130,812,147 (GRCm39) |
|
probably null |
Het |
| Bambi |
A |
T |
18: 3,511,406 (GRCm39) |
T76S |
probably benign |
Het |
| Cacna1a |
T |
A |
8: 85,310,283 (GRCm39) |
V1447E |
probably damaging |
Het |
| Calcoco2 |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,808 (GRCm39) |
|
probably benign |
Het |
| Clcn2 |
A |
G |
16: 20,527,210 (GRCm39) |
M629T |
probably damaging |
Het |
| Col20a1 |
T |
C |
2: 180,628,371 (GRCm39) |
F15S |
probably benign |
Het |
| Col2a1 |
G |
A |
15: 97,898,458 (GRCm39) |
Q39* |
probably null |
Het |
| Creb3 |
A |
G |
4: 43,563,332 (GRCm39) |
E119G |
probably benign |
Het |
| Dnah5 |
A |
C |
15: 28,245,830 (GRCm39) |
D556A |
probably damaging |
Het |
| Edar |
C |
T |
10: 58,446,348 (GRCm39) |
M192I |
possibly damaging |
Het |
| Fam91a1 |
A |
G |
15: 58,320,209 (GRCm39) |
M634V |
probably benign |
Het |
| Fbxo10 |
C |
T |
4: 45,051,699 (GRCm39) |
V471I |
not run |
Het |
| Fer1l5 |
T |
C |
1: 36,460,967 (GRCm39) |
F2032L |
probably benign |
Het |
| Gm5150 |
A |
C |
3: 16,060,485 (GRCm39) |
M1R |
probably null |
Het |
| Grin1 |
T |
C |
2: 25,188,202 (GRCm39) |
E509G |
probably benign |
Het |
| Igkv10-94 |
C |
T |
6: 68,681,913 (GRCm39) |
|
probably benign |
Het |
| Il18bp |
A |
G |
7: 101,666,002 (GRCm39) |
Y59H |
possibly damaging |
Het |
| Ints8 |
A |
T |
4: 11,254,062 (GRCm39) |
C17S |
probably benign |
Het |
| Kcnmb1 |
T |
C |
11: 33,916,275 (GRCm39) |
Y74H |
probably damaging |
Het |
| Kpna1 |
T |
C |
16: 35,843,565 (GRCm39) |
V313A |
probably benign |
Het |
| Lrp4 |
C |
T |
2: 91,321,061 (GRCm39) |
T1029I |
possibly damaging |
Het |
| Lrrc7 |
A |
T |
3: 158,059,099 (GRCm39) |
C3S |
probably damaging |
Het |
| Lyst |
C |
A |
13: 13,810,450 (GRCm39) |
H707N |
probably benign |
Het |
| Map3k20 |
A |
G |
2: 72,202,098 (GRCm39) |
K148R |
probably damaging |
Het |
| Mcidas |
G |
A |
13: 113,135,521 (GRCm39) |
G315S |
probably damaging |
Het |
| Miip |
C |
T |
4: 147,947,375 (GRCm39) |
G236S |
probably benign |
Het |
| Mocs1 |
T |
A |
17: 49,746,561 (GRCm39) |
I177N |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,399,850 (GRCm39) |
D441G |
unknown |
Het |
| Ncoa1 |
T |
C |
12: 4,328,186 (GRCm39) |
N884S |
probably benign |
Het |
| Or12j4 |
A |
G |
7: 140,046,696 (GRCm39) |
N194S |
probably damaging |
Het |
| Or51a39 |
A |
G |
7: 102,363,389 (GRCm39) |
V77A |
probably benign |
Het |
| Padi6 |
A |
T |
4: 140,455,073 (GRCm39) |
F621L |
probably damaging |
Het |
| Pde8b |
C |
A |
13: 95,223,347 (GRCm39) |
M197I |
possibly damaging |
Het |
| Pear1 |
T |
A |
3: 87,659,522 (GRCm39) |
I771L |
probably benign |
Het |
| Poli |
A |
G |
18: 70,655,891 (GRCm39) |
L281P |
probably damaging |
Het |
| Prdm12 |
T |
C |
2: 31,530,231 (GRCm39) |
W41R |
probably damaging |
Het |
| Prkdc |
T |
G |
16: 15,532,870 (GRCm39) |
S1500A |
probably benign |
Het |
| Prune2 |
T |
A |
19: 17,096,798 (GRCm39) |
H767Q |
probably benign |
Het |
| Rasgef1b |
G |
A |
5: 99,382,403 (GRCm39) |
Q196* |
probably null |
Het |
| Rnpc3 |
A |
T |
3: 113,416,096 (GRCm39) |
L121* |
probably null |
Het |
| Rpp14 |
A |
G |
14: 8,083,724 (GRCm38) |
M1V |
probably null |
Het |
| Ryr2 |
T |
A |
13: 11,610,610 (GRCm39) |
D4072V |
probably damaging |
Het |
| Sgms1 |
T |
C |
19: 32,102,765 (GRCm39) |
H314R |
probably damaging |
Het |
| Six4 |
CT |
C |
12: 73,151,013 (GRCm39) |
|
probably benign |
Het |
| Slc37a3 |
A |
T |
6: 39,324,244 (GRCm39) |
Y335N |
probably damaging |
Het |
| Tcp11l1 |
A |
T |
2: 104,536,837 (GRCm39) |
H9Q |
probably benign |
Het |
| Tnrc6a |
T |
A |
7: 122,779,057 (GRCm39) |
M1256K |
probably damaging |
Het |
| Trpc6 |
A |
G |
9: 8,609,910 (GRCm39) |
N126S |
probably damaging |
Het |
| Tut4 |
T |
G |
4: 108,374,715 (GRCm39) |
C933G |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,120,373 (GRCm39) |
F266S |
possibly damaging |
Het |
| Uimc1 |
A |
G |
13: 55,217,550 (GRCm39) |
V424A |
possibly damaging |
Het |
| Utrn |
T |
C |
10: 12,573,873 (GRCm39) |
I1066V |
probably benign |
Het |
| Vmn1r204 |
A |
G |
13: 22,740,404 (GRCm39) |
T12A |
probably benign |
Het |
| Vmn1r57 |
T |
A |
7: 5,223,613 (GRCm39) |
I46N |
possibly damaging |
Het |
| Vmn1r91 |
T |
C |
7: 19,835,839 (GRCm39) |
Y253H |
probably benign |
Het |
| Vmn2r14 |
T |
A |
5: 109,369,219 (GRCm39) |
H118L |
probably benign |
Het |
| Zfp775 |
A |
G |
6: 48,597,404 (GRCm39) |
K426R |
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 |
|
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'- AAGCTGGCCGCACTATGTAC -3'
(R):5'- TAAAGTGCTTGTTATGACTGTGCC -3'
Sequencing Primer
(F):5'- GGCCGCACTATGTACTCAATC -3'
(R):5'- CCAAACTCCTTTTTGAGATTCTGAG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation