Incidental Mutation 'R4335:Clic4'
| ID |
323730 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4335 (G1)
|
| Quality Score |
208 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
134941280-135000071 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 134945916 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 167
(S167N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041453
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037099]
|
| AlphaFold |
Q9QYB1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037099
AA Change: S167N
PolyPhen 2
Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000041453
Gene: ENSMUSG00000037242
AA Change: S167N
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143370
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
G |
A |
11: 110,042,843 (GRCm39) |
T402M |
probably damaging |
Het |
| Apbb1ip |
G |
A |
2: 22,761,574 (GRCm39) |
|
probably null |
Het |
| Armh1 |
A |
T |
4: 117,071,660 (GRCm39) |
I308N |
probably damaging |
Het |
| Ceacam5 |
G |
A |
7: 17,486,054 (GRCm39) |
R517Q |
probably benign |
Het |
| Ehbp1l1 |
A |
T |
19: 5,758,797 (GRCm39) |
L1644Q |
probably damaging |
Het |
| Erh |
A |
G |
12: 80,689,615 (GRCm39) |
L3P |
probably benign |
Het |
| Fbxw7 |
T |
C |
3: 84,879,802 (GRCm39) |
C375R |
probably damaging |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Fsd2 |
A |
T |
7: 81,191,813 (GRCm39) |
S521R |
probably damaging |
Het |
| Garin2 |
T |
C |
12: 78,759,006 (GRCm39) |
S109P |
possibly damaging |
Het |
| Hace1 |
A |
G |
10: 45,586,057 (GRCm39) |
Y865C |
probably damaging |
Het |
| Iqca1l |
A |
G |
5: 24,749,368 (GRCm39) |
L710P |
probably damaging |
Het |
| Iqcf1 |
G |
A |
9: 106,379,072 (GRCm39) |
R62H |
possibly damaging |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Leng8 |
T |
C |
7: 4,150,037 (GRCm39) |
Y781H |
probably damaging |
Het |
| Med8 |
G |
T |
4: 118,266,567 (GRCm39) |
|
probably null |
Het |
| Myo19 |
G |
A |
11: 84,799,114 (GRCm39) |
A816T |
probably benign |
Het |
| Nat8f2 |
A |
G |
6: 85,845,233 (GRCm39) |
L43P |
probably damaging |
Het |
| Omd |
A |
C |
13: 49,743,712 (GRCm39) |
D254A |
probably benign |
Het |
| Psd2 |
G |
T |
18: 36,140,583 (GRCm39) |
A622S |
probably damaging |
Het |
| Rnf207 |
G |
A |
4: 152,400,062 (GRCm39) |
|
probably benign |
Het |
| Rsbn1l |
T |
C |
5: 21,113,191 (GRCm39) |
I444V |
probably null |
Het |
| Rxfp1 |
A |
G |
3: 79,594,105 (GRCm39) |
|
probably null |
Het |
| Selenot |
C |
A |
3: 58,492,722 (GRCm39) |
R70S |
possibly damaging |
Het |
| Sox6 |
A |
G |
7: 115,111,959 (GRCm39) |
S557P |
probably benign |
Het |
| Sp9 |
G |
A |
2: 73,104,633 (GRCm39) |
V396M |
probably damaging |
Het |
| Ston1 |
T |
C |
17: 88,943,125 (GRCm39) |
F177S |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,074,866 (GRCm39) |
E4602G |
probably damaging |
Het |
| Tbc1d19 |
A |
G |
5: 54,029,619 (GRCm39) |
T327A |
possibly damaging |
Het |
| Tsga13 |
T |
C |
6: 30,876,980 (GRCm39) |
D179G |
probably damaging |
Het |
| Wdr27 |
T |
A |
17: 15,141,018 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Clic4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01564:Clic4
|
APN |
4 |
134,944,504 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACTGAGCTGACTCTGGCTG -3'
(R):5'- GTTGGTTGGCAGGATAGACC -3'
Sequencing Primer
(F):5'- CTCTGGCTGGGGTAGAGAAC -3'
(R):5'- AGCATGCAGGCAAGCTC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation