Incidental Mutation 'R6961:Clcn7'
| ID |
541779 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clcn7
|
| Ensembl Gene |
ENSMUSG00000036636 |
| Gene Name |
chloride channel, voltage-sensitive 7 |
| Synonyms |
ClC-7 |
| MMRRC Submission |
045071-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6961 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
25352365-25381078 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 25376188 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 560
(P560S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124194
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040729]
[ENSMUST00000160961]
|
| AlphaFold |
O70496 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040729
AA Change: P580S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035964
Gene: ENSMUSG00000036636
AA Change: P580S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
60 |
74 |
N/A |
INTRINSIC |
|
Pfam:Voltage_CLC
|
183 |
594 |
1.5e-96 |
PFAM |
|
CBS
|
632 |
687 |
8.38e-4 |
SMART |
|
CBS
|
742 |
790 |
1.77e-11 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160961
AA Change: P560S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124194
Gene: ENSMUSG00000036636
AA Change: P560S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
40 |
54 |
N/A |
INTRINSIC |
|
Pfam:Voltage_CLC
|
163 |
574 |
1.5e-93 |
PFAM |
|
CBS
|
612 |
667 |
8.38e-4 |
SMART |
|
CBS
|
722 |
770 |
1.77e-11 |
SMART |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000124527
Gene: ENSMUSG00000036636
AA Change: P292S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Voltage_CLC
|
5 |
307 |
1.3e-48 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.8%
|
| Validation Efficiency |
100% (51/51) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal lethality, abnormal bone formation, including osteopetrosis, and retinal degeneration. Mice homozygous for a conditional allele exhibit lysosomal defects with neuronal degeneration and accumulationof giant lysosomes in renal tubule cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
G |
5: 77,024,148 (GRCm39) |
L168P |
probably damaging |
Het |
| Atp6v0d1 |
A |
G |
8: 106,255,849 (GRCm39) |
L173P |
probably damaging |
Het |
| Baiap2l2 |
A |
G |
15: 79,168,835 (GRCm39) |
F23L |
probably damaging |
Het |
| Cd200l1 |
T |
A |
16: 45,264,366 (GRCm39) |
Y64F |
probably benign |
Het |
| Cdh23 |
G |
C |
10: 60,485,893 (GRCm39) |
L41V |
probably benign |
Het |
| Cep120 |
C |
A |
18: 53,836,277 (GRCm39) |
E803* |
probably null |
Het |
| Cldn12 |
A |
T |
5: 5,557,707 (GRCm39) |
V240D |
probably damaging |
Het |
| Clec1a |
C |
T |
6: 129,406,946 (GRCm39) |
E190K |
probably benign |
Het |
| Cntnap5b |
A |
G |
1: 100,202,197 (GRCm39) |
E348G |
probably benign |
Het |
| Crispld1 |
T |
A |
1: 17,832,365 (GRCm39) |
H450Q |
probably damaging |
Het |
| Dsc2 |
A |
T |
18: 20,171,279 (GRCm39) |
N573K |
probably damaging |
Het |
| Fam186a |
T |
A |
15: 99,838,082 (GRCm39) |
I2721F |
probably benign |
Het |
| Fbxl13 |
A |
G |
5: 21,748,740 (GRCm39) |
F393S |
probably damaging |
Het |
| Fut1 |
A |
T |
7: 45,268,963 (GRCm39) |
I306F |
probably damaging |
Het |
| Gas2l3 |
T |
C |
10: 89,249,153 (GRCm39) |
D655G |
probably benign |
Het |
| Gm29106 |
A |
T |
1: 118,128,128 (GRCm39) |
K607* |
probably null |
Het |
| Gm57858 |
T |
A |
3: 36,104,766 (GRCm39) |
I32F |
possibly damaging |
Het |
| Hmg20a |
T |
C |
9: 56,396,012 (GRCm39) |
V268A |
probably benign |
Het |
| Il2rb |
T |
A |
15: 78,370,024 (GRCm39) |
Y205F |
probably damaging |
Het |
| Ints4 |
A |
G |
7: 97,190,397 (GRCm39) |
*965W |
probably null |
Het |
| Itsn2 |
T |
A |
12: 4,723,420 (GRCm39) |
C1118* |
probably null |
Het |
| Jakmip1 |
T |
C |
5: 37,330,697 (GRCm39) |
L459P |
probably damaging |
Het |
| Klhl8 |
T |
C |
5: 104,018,435 (GRCm39) |
T323A |
possibly damaging |
Het |
| Mindy3 |
C |
A |
2: 12,400,989 (GRCm39) |
|
probably null |
Het |
| Myo3a |
A |
G |
2: 22,250,369 (GRCm39) |
T79A |
probably benign |
Het |
| Myom2 |
G |
A |
8: 15,167,741 (GRCm39) |
A1109T |
probably null |
Het |
| Napa |
C |
T |
7: 15,843,034 (GRCm39) |
R53* |
probably null |
Het |
| Nudt21 |
A |
C |
8: 94,755,508 (GRCm39) |
D133E |
probably benign |
Het |
| Or2y3 |
T |
A |
17: 38,393,096 (GRCm39) |
I258F |
probably damaging |
Het |
| Or4c115 |
T |
A |
2: 88,928,149 (GRCm39) |
M41L |
probably benign |
Het |
| Or52b1 |
A |
T |
7: 104,978,913 (GRCm39) |
I162K |
probably damaging |
Het |
| Or52s19 |
A |
G |
7: 103,007,789 (GRCm39) |
V204A |
possibly damaging |
Het |
| Or56a41 |
A |
T |
7: 104,741,978 (GRCm39) |
M16K |
probably benign |
Het |
| Or6c7 |
T |
C |
10: 129,323,331 (GRCm39) |
F151L |
probably damaging |
Het |
| Pate13 |
G |
A |
9: 35,819,740 (GRCm39) |
M1I |
probably null |
Het |
| Pira13 |
T |
C |
7: 3,828,124 (GRCm39) |
Y61C |
probably damaging |
Het |
| Pla2g4e |
G |
T |
2: 120,004,851 (GRCm39) |
|
probably null |
Het |
| Ptbp1 |
T |
C |
10: 79,695,111 (GRCm39) |
|
probably null |
Het |
| Scfd2 |
A |
C |
5: 74,680,202 (GRCm39) |
V317G |
possibly damaging |
Het |
| Slc45a1 |
T |
C |
4: 150,714,110 (GRCm39) |
M712V |
probably damaging |
Het |
| Smg7 |
A |
T |
1: 152,717,334 (GRCm39) |
L919* |
probably null |
Het |
| Sspo |
T |
A |
6: 48,440,811 (GRCm39) |
S1758T |
probably benign |
Het |
| Tgfb2 |
A |
T |
1: 186,382,032 (GRCm39) |
M165K |
possibly damaging |
Het |
| Tie1 |
C |
T |
4: 118,343,402 (GRCm39) |
V154M |
probably damaging |
Het |
| Timm17a |
A |
G |
1: 135,238,816 (GRCm39) |
|
probably benign |
Het |
| Tlr5 |
C |
T |
1: 182,801,076 (GRCm39) |
R127* |
probably null |
Het |
| Ttc29 |
A |
C |
8: 79,003,545 (GRCm39) |
I254L |
possibly damaging |
Het |
| Unc79 |
T |
C |
12: 103,079,174 (GRCm39) |
S1780P |
probably damaging |
Het |
| Vmn2r106 |
A |
T |
17: 20,488,646 (GRCm39) |
Y584* |
probably null |
Het |
| Zbtb24 |
A |
G |
10: 41,331,171 (GRCm39) |
E366G |
probably damaging |
Het |
|
| Other mutations in Clcn7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00486:Clcn7
|
APN |
17 |
25,370,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01735:Clcn7
|
APN |
17 |
25,370,090 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01912:Clcn7
|
APN |
17 |
25,371,983 (GRCm39) |
splice site |
probably benign |
|
|
IGL01936:Clcn7
|
APN |
17 |
25,374,350 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02084:Clcn7
|
APN |
17 |
25,376,899 (GRCm39) |
missense |
probably benign |
|
|
IGL02121:Clcn7
|
APN |
17 |
25,372,058 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02160:Clcn7
|
APN |
17 |
25,368,004 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02335:Clcn7
|
APN |
17 |
25,365,821 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02507:Clcn7
|
APN |
17 |
25,363,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02605:Clcn7
|
APN |
17 |
25,365,792 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL03160:Clcn7
|
APN |
17 |
25,365,427 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03192:Clcn7
|
APN |
17 |
25,352,575 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03194:Clcn7
|
APN |
17 |
25,369,522 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03409:Clcn7
|
APN |
17 |
25,374,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0140:Clcn7
|
UTSW |
17 |
25,372,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0153:Clcn7
|
UTSW |
17 |
25,368,176 (GRCm39) |
unclassified |
probably benign |
|
|
R0970:Clcn7
|
UTSW |
17 |
25,370,208 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1644:Clcn7
|
UTSW |
17 |
25,378,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1856:Clcn7
|
UTSW |
17 |
25,379,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2145:Clcn7
|
UTSW |
17 |
25,363,425 (GRCm39) |
missense |
probably benign |
|
|
R2173:Clcn7
|
UTSW |
17 |
25,364,583 (GRCm39) |
missense |
probably benign |
|
|
R2401:Clcn7
|
UTSW |
17 |
25,372,114 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2511:Clcn7
|
UTSW |
17 |
25,374,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3683:Clcn7
|
UTSW |
17 |
25,369,567 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R3684:Clcn7
|
UTSW |
17 |
25,369,567 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R3694:Clcn7
|
UTSW |
17 |
25,378,681 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4424:Clcn7
|
UTSW |
17 |
25,379,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4681:Clcn7
|
UTSW |
17 |
25,376,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4870:Clcn7
|
UTSW |
17 |
25,372,539 (GRCm39) |
intron |
probably benign |
|
|
R5372:Clcn7
|
UTSW |
17 |
25,376,153 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5820:Clcn7
|
UTSW |
17 |
25,368,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6154:Clcn7
|
UTSW |
17 |
25,376,928 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6181:Clcn7
|
UTSW |
17 |
25,370,702 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6306:Clcn7
|
UTSW |
17 |
25,376,502 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6798:Clcn7
|
UTSW |
17 |
25,378,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7020:Clcn7
|
UTSW |
17 |
25,365,325 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7089:Clcn7
|
UTSW |
17 |
25,372,667 (GRCm39) |
missense |
|
|
|
R7757:Clcn7
|
UTSW |
17 |
25,375,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8057:Clcn7
|
UTSW |
17 |
25,368,233 (GRCm39) |
nonsense |
probably null |
|
|
R8670:Clcn7
|
UTSW |
17 |
25,378,588 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9031:Clcn7
|
UTSW |
17 |
25,376,497 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9720:Clcn7
|
UTSW |
17 |
25,374,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0020:Clcn7
|
UTSW |
17 |
25,369,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Clcn7
|
UTSW |
17 |
25,371,989 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGTCATCAGGTCCATAGCAC -3'
(R):5'- TGACTCAATGGGCTCCCTTC -3'
Sequencing Primer
(F):5'- GTAGGGCTCAGCAGTTAGC -3'
(R):5'- AATGGGCTCCCTTCCTTCTG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation