Incidental Mutation 'R0035:Clic5'
| ID |
15254 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clic5
|
| Ensembl Gene |
ENSMUSG00000023959 |
| Gene Name |
chloride intracellular channel 5 |
| Synonyms |
5730531E12Rik, nmf318 |
| MMRRC Submission |
038329-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0035 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
44445671-44591059 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44586200 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 230
(T230A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024755
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024755]
|
| AlphaFold |
Q8BXK9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024755
AA Change: T230A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000024755
Gene: ENSMUSG00000023959
AA Change: T230A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_N_3
|
28 |
100 |
2.4e-10 |
PFAM |
|
Pfam:GST_C_2
|
90 |
220 |
1e-9 |
PFAM |
|
| Meta Mutation Damage Score |
0.8095 |
| Coding Region Coverage |
- 1x: 75.6%
- 3x: 61.5%
- 10x: 31.6%
- 20x: 15.2%
|
| Validation Efficiency |
94% (51/54) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the chloride intracellular channel (CLIC) family of chloride ion channels. The encoded protein associates with actin-based cytoskeletal structures and may play a role in multiple processes including hair cell stereocilia formation, myoblast proliferation and glomerular podocyte and endothelial cell maintenance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a spontaneous mutation exhibit head bobbing and circling behavior, inability to swim, and complete deafness by 7-8 months of age caused by dysmorphic stereocilia and progressive hair cell degeneration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110040N11Rik |
T |
C |
7: 81,438,297 (GRCm39) |
T20A |
probably benign |
Het |
| Acvr1c |
A |
G |
2: 58,205,791 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,393,581 (GRCm39) |
V1247A |
probably benign |
Het |
| Ap4b1 |
T |
C |
3: 103,727,980 (GRCm39) |
|
probably benign |
Het |
| Cfap53 |
A |
G |
18: 74,433,278 (GRCm39) |
E121G |
probably damaging |
Het |
| Clec4a3 |
T |
A |
6: 122,944,508 (GRCm39) |
Y185N |
probably damaging |
Het |
| Clspn |
G |
T |
4: 126,458,796 (GRCm39) |
|
probably null |
Het |
| Deup1 |
T |
C |
9: 15,511,117 (GRCm39) |
R221G |
possibly damaging |
Het |
| Dnah8 |
A |
T |
17: 30,902,595 (GRCm39) |
|
probably benign |
Het |
| Dnase1l2 |
A |
G |
17: 24,660,049 (GRCm39) |
V273A |
probably damaging |
Het |
| Gm5134 |
T |
A |
10: 75,829,698 (GRCm39) |
F328Y |
probably benign |
Het |
| Il23r |
A |
G |
6: 67,450,772 (GRCm39) |
|
probably benign |
Het |
| Il36b |
A |
T |
2: 24,049,890 (GRCm39) |
H167L |
probably benign |
Het |
| Ktn1 |
A |
G |
14: 47,967,836 (GRCm39) |
N1167D |
probably benign |
Het |
| Map6 |
C |
T |
7: 98,966,815 (GRCm39) |
T345I |
probably damaging |
Het |
| Mark2 |
A |
T |
19: 7,262,017 (GRCm39) |
|
probably benign |
Het |
| Nr1h5 |
T |
A |
3: 102,856,889 (GRCm39) |
K208* |
probably null |
Het |
| Obp2b |
T |
C |
2: 25,628,645 (GRCm39) |
L133P |
probably damaging |
Het |
| Ptafr |
C |
A |
4: 132,306,864 (GRCm39) |
L85I |
probably benign |
Het |
| Ptprk |
T |
A |
10: 28,139,504 (GRCm39) |
Y76* |
probably null |
Het |
| Rad50 |
A |
G |
11: 53,545,854 (GRCm39) |
|
probably benign |
Het |
| Rasef |
G |
T |
4: 73,681,091 (GRCm39) |
|
probably benign |
Het |
| Tbc1d17 |
T |
C |
7: 44,490,832 (GRCm39) |
N587D |
probably benign |
Het |
| Zc3h12c |
A |
T |
9: 52,055,047 (GRCm39) |
M235K |
probably benign |
Het |
| Zfp619 |
G |
A |
7: 39,186,706 (GRCm39) |
G912D |
probably damaging |
Het |
| Zfp982 |
A |
C |
4: 147,597,149 (GRCm39) |
K169Q |
probably benign |
Het |
|
| Other mutations in Clic5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01606:Clic5
|
APN |
17 |
44,559,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03196:Clic5
|
APN |
17 |
44,552,960 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL03394:Clic5
|
APN |
17 |
44,548,105 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0035:Clic5
|
UTSW |
17 |
44,586,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0375:Clic5
|
UTSW |
17 |
44,581,510 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2909:Clic5
|
UTSW |
17 |
44,586,146 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4541:Clic5
|
UTSW |
17 |
44,552,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7101:Clic5
|
UTSW |
17 |
44,586,179 (GRCm39) |
missense |
probably benign |
|
|
R8215:Clic5
|
UTSW |
17 |
44,586,228 (GRCm39) |
nonsense |
probably null |
|
|
R8904:Clic5
|
UTSW |
17 |
44,552,992 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8947:Clic5
|
UTSW |
17 |
44,553,148 (GRCm39) |
intron |
probably benign |
|
|
| Posted On |
2012-12-17 |
Incidental Mutation