Incidental Mutation 'IGL01564:Clic4'
ID |
90924 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Clic4
|
Ensembl Gene |
ENSMUSG00000037242 |
Gene Name |
chloride intracellular channel 4 |
Synonyms |
mc3s5, mtCLIC, D0Jmb3 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01564
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
134941280-135000071 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 134944504 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 224
(A224T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041453
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037099]
|
AlphaFold |
Q9QYB1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037099
AA Change: A224T
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000041453 Gene: ENSMUSG00000037242 AA Change: A224T
Domain | Start | End | E-Value | Type |
Pfam:GST_N_3
|
31 |
103 |
7.3e-9 |
PFAM |
Pfam:GST_C_2
|
134 |
223 |
2.7e-10 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. Chloride intracellular channel 4 (CLIC4) protein, encoded by the CLIC4 gene, is a member of the p64 family; the gene is expressed in many tissues and exhibits a intracellular vesicular pattern in Panc-1 cells (pancreatic cancer cells). [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for null mutations may display decreased survival, body weight and female fertility, impaired angiogenesis, increased suscpetibility to Listeria infection, increased resistance to LPS treatment, skin erosions and/or delayed wound healing. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adat3 |
T |
A |
10: 80,442,693 (GRCm39) |
M177K |
probably damaging |
Het |
Ankrd28 |
G |
T |
14: 31,477,724 (GRCm39) |
T48K |
probably damaging |
Het |
Capn3 |
T |
C |
2: 120,311,189 (GRCm39) |
I112T |
probably damaging |
Het |
Clec3a |
T |
A |
8: 115,152,282 (GRCm39) |
I96N |
probably damaging |
Het |
Eif2b3 |
T |
C |
4: 116,885,739 (GRCm39) |
Y94H |
probably benign |
Het |
Ep300 |
A |
T |
15: 81,516,665 (GRCm39) |
|
probably benign |
Het |
Errfi1 |
C |
A |
4: 150,951,487 (GRCm39) |
T305N |
probably damaging |
Het |
Fam131c |
T |
A |
4: 141,106,984 (GRCm39) |
|
probably null |
Het |
Fbxo11 |
G |
A |
17: 88,310,324 (GRCm39) |
T494I |
probably benign |
Het |
Homer2 |
T |
C |
7: 81,268,320 (GRCm39) |
|
probably null |
Het |
Hpf1 |
C |
A |
8: 61,343,513 (GRCm39) |
|
probably benign |
Het |
Hspa1b |
T |
C |
17: 35,176,525 (GRCm39) |
N487D |
probably benign |
Het |
Ikbke |
C |
A |
1: 131,185,658 (GRCm39) |
A617S |
probably benign |
Het |
Jade1 |
G |
T |
3: 41,551,084 (GRCm39) |
R174S |
possibly damaging |
Het |
Lcmt1 |
T |
C |
7: 123,003,663 (GRCm39) |
F139S |
probably benign |
Het |
Lipo2 |
T |
C |
19: 33,698,424 (GRCm39) |
T318A |
probably benign |
Het |
Lrp1b |
C |
T |
2: 40,567,498 (GRCm39) |
|
probably benign |
Het |
Lsm14a |
T |
C |
7: 34,088,780 (GRCm39) |
|
probably benign |
Het |
Mpp2 |
T |
C |
11: 101,952,345 (GRCm39) |
D393G |
probably benign |
Het |
Nfyb |
T |
C |
10: 82,588,260 (GRCm39) |
Y137C |
probably damaging |
Het |
Or10g1 |
T |
C |
14: 52,648,299 (GRCm39) |
D10G |
probably benign |
Het |
Or5d35 |
A |
T |
2: 87,855,648 (GRCm39) |
H194L |
probably benign |
Het |
Or5p55 |
T |
C |
7: 107,567,198 (GRCm39) |
I198T |
probably benign |
Het |
Scn3a |
A |
C |
2: 65,291,790 (GRCm39) |
I1652S |
probably damaging |
Het |
Slc33a1 |
C |
T |
3: 63,850,768 (GRCm39) |
V519I |
probably benign |
Het |
Strada |
G |
T |
11: 106,064,118 (GRCm39) |
N66K |
probably damaging |
Het |
Thoc2l |
A |
T |
5: 104,668,529 (GRCm39) |
Y1017F |
probably benign |
Het |
Tlr1 |
T |
A |
5: 65,083,189 (GRCm39) |
I463F |
probably damaging |
Het |
Tnfrsf19 |
G |
T |
14: 61,212,058 (GRCm39) |
F197L |
possibly damaging |
Het |
Tph1 |
T |
A |
7: 46,300,305 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
T |
2: 76,646,922 (GRCm39) |
L3287H |
probably damaging |
Het |
Vmn2r18 |
A |
T |
5: 151,508,633 (GRCm39) |
S164T |
possibly damaging |
Het |
Zan |
C |
T |
5: 137,444,995 (GRCm39) |
V1755I |
unknown |
Het |
Zmym4 |
T |
C |
4: 126,805,073 (GRCm39) |
I396V |
possibly damaging |
Het |
|
Other mutations in Clic4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01674:Clic4
|
APN |
4 |
134,966,204 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03343:Clic4
|
APN |
4 |
134,945,889 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL03372:Clic4
|
APN |
4 |
134,945,925 (GRCm39) |
missense |
probably damaging |
0.99 |
R1643:Clic4
|
UTSW |
4 |
134,966,206 (GRCm39) |
missense |
possibly damaging |
0.69 |
R2201:Clic4
|
UTSW |
4 |
134,950,850 (GRCm39) |
missense |
probably damaging |
1.00 |
R4181:Clic4
|
UTSW |
4 |
134,953,350 (GRCm39) |
missense |
probably benign |
0.00 |
R4302:Clic4
|
UTSW |
4 |
134,953,350 (GRCm39) |
missense |
probably benign |
0.00 |
R4335:Clic4
|
UTSW |
4 |
134,945,916 (GRCm39) |
missense |
probably benign |
0.15 |
R4600:Clic4
|
UTSW |
4 |
134,966,300 (GRCm39) |
splice site |
probably null |
|
R4939:Clic4
|
UTSW |
4 |
134,950,852 (GRCm39) |
missense |
probably benign |
0.16 |
R5359:Clic4
|
UTSW |
4 |
134,944,446 (GRCm39) |
missense |
probably benign |
0.00 |
R5437:Clic4
|
UTSW |
4 |
134,944,557 (GRCm39) |
missense |
probably damaging |
1.00 |
R5902:Clic4
|
UTSW |
4 |
134,999,869 (GRCm39) |
missense |
probably benign |
|
R7670:Clic4
|
UTSW |
4 |
134,944,516 (GRCm39) |
missense |
probably damaging |
1.00 |
R9630:Clic4
|
UTSW |
4 |
134,944,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-12-09 |