Incidental Mutation 'R9333:Clcn4'
| ID |
711163 |
| 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 # |
R9333 (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 A
at 7292192 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 540
(M540L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000619
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000619]
[ENSMUST00000210061]
[ENSMUST00000210362]
[ENSMUST00000210594]
[ENSMUST00000211574]
|
| AlphaFold |
Q61418 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000619
AA Change: M540L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000000619
Gene: ENSMUSG00000000605
AA Change: M540L
| 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 damaging
Transcript: ENSMUST00000210061
AA Change: M509L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210362
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210594
AA Change: M480L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211574
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
G |
T |
4: 123,754,416 (GRCm39) |
G110V |
probably benign |
Het |
| Abraxas1 |
T |
C |
5: 100,959,939 (GRCm39) |
S138G |
probably damaging |
Het |
| Aldoart1 |
C |
T |
4: 72,770,367 (GRCm39) |
R147H |
probably benign |
Het |
| Arfgef1 |
C |
A |
1: 10,222,037 (GRCm39) |
E1556* |
probably null |
Het |
| Arhgap39 |
C |
T |
15: 76,619,325 (GRCm39) |
R753H |
probably damaging |
Het |
| Asb2 |
G |
A |
12: 103,311,955 (GRCm39) |
Q56* |
probably null |
Het |
| Atp8b3 |
T |
C |
10: 80,360,180 (GRCm39) |
I964V |
probably benign |
Het |
| Baiap3 |
C |
A |
17: 25,467,676 (GRCm39) |
R338L |
possibly damaging |
Het |
| Crbn |
T |
C |
6: 106,776,984 (GRCm39) |
H12R |
probably benign |
Het |
| D6Wsu163e |
A |
G |
6: 126,952,096 (GRCm39) |
Y530C |
probably damaging |
Het |
| Dolpp1 |
T |
A |
2: 30,287,140 (GRCm39) |
F191I |
probably damaging |
Het |
| Fam217a |
T |
C |
13: 35,100,876 (GRCm39) |
T94A |
probably benign |
Het |
| Fanci |
T |
C |
7: 79,067,594 (GRCm39) |
W347R |
possibly damaging |
Het |
| Fbxo39 |
A |
T |
11: 72,208,349 (GRCm39) |
N234Y |
probably damaging |
Het |
| Fbxo4 |
A |
G |
15: 3,998,502 (GRCm39) |
S319P |
probably benign |
Het |
| Gm14403 |
A |
G |
2: 177,200,919 (GRCm39) |
N46S |
probably benign |
Het |
| Grm2 |
C |
A |
9: 106,525,416 (GRCm39) |
R433L |
possibly damaging |
Het |
| Gtf2i |
C |
T |
5: 134,271,840 (GRCm39) |
D855N |
probably benign |
Het |
| Hcn2 |
T |
A |
10: 79,561,991 (GRCm39) |
M329K |
possibly damaging |
Het |
| Hsd3b3 |
T |
C |
3: 98,649,216 (GRCm39) |
D369G |
probably benign |
Het |
| Kctd12 |
T |
C |
14: 103,219,054 (GRCm39) |
K275E |
probably damaging |
Het |
| Klra4 |
T |
A |
6: 130,021,080 (GRCm39) |
K238N |
probably damaging |
Het |
| Kremen2 |
T |
A |
17: 23,962,775 (GRCm39) |
T104S |
probably damaging |
Het |
| Lmf2 |
G |
A |
15: 89,239,577 (GRCm39) |
L26F |
probably damaging |
Het |
| Mageb3 |
A |
T |
2: 121,784,973 (GRCm39) |
V243E |
probably damaging |
Het |
| Mfsd10 |
A |
G |
5: 34,792,427 (GRCm39) |
V258A |
probably damaging |
Het |
| Myh10 |
A |
C |
11: 68,680,980 (GRCm39) |
Q1007P |
probably benign |
Het |
| Ndufaf5 |
A |
G |
2: 140,035,513 (GRCm39) |
E243G |
probably benign |
Het |
| Or2ag16 |
T |
C |
7: 106,351,782 (GRCm39) |
D271G |
probably damaging |
Het |
| Orm3 |
T |
C |
4: 63,274,528 (GRCm39) |
I31T |
probably damaging |
Het |
| Pgm2 |
C |
A |
5: 64,263,100 (GRCm39) |
T249K |
probably benign |
Het |
| Prcp |
T |
C |
7: 92,577,894 (GRCm39) |
Y388H |
probably damaging |
Het |
| Prmt3 |
T |
G |
7: 49,456,308 (GRCm39) |
I306M |
probably damaging |
Het |
| Rag2 |
A |
T |
2: 101,460,752 (GRCm39) |
D354V |
probably benign |
Het |
| Reep1 |
A |
G |
6: 71,772,198 (GRCm39) |
D162G |
probably damaging |
Het |
| Rnpep |
A |
T |
1: 135,191,862 (GRCm39) |
W575R |
probably damaging |
Het |
| Rpl28 |
T |
C |
7: 4,796,079 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
A |
C |
7: 28,774,214 (GRCm39) |
|
probably null |
Het |
| Spg11 |
G |
A |
2: 121,932,244 (GRCm39) |
R533C |
probably damaging |
Het |
| Tcf7l2 |
C |
A |
19: 55,919,928 (GRCm39) |
S487* |
probably null |
Het |
| Usp39 |
T |
C |
6: 72,314,710 (GRCm39) |
N232S |
probably benign |
Het |
| Vmn2r26 |
C |
T |
6: 124,003,009 (GRCm39) |
P140S |
probably benign |
Het |
| Vmn2r34 |
C |
T |
7: 7,675,367 (GRCm39) |
V674I |
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 |
|
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 |
|
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'- ATAATGGCGGTTCTCCCCTC -3'
(R):5'- ACATGGGACTGCCTCTTTG -3'
Sequencing Primer
(F):5'- ATTCAGATGGATGTGGGC -3'
(R):5'- AGTACCGAAAGTTCTCGTTAGAG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation