Incidental Mutation 'IGL02387:Clic6'
| ID |
291587 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Clic6
|
| Ensembl Gene |
ENSMUSG00000022949 |
| Gene Name |
chloride intracellular channel 6 |
| Synonyms |
CLIC1L, 5730466J16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
IGL02387
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
92295035-92338129 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 92326807 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 464
(D464G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023670
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023670]
[ENSMUST00000162181]
|
| AlphaFold |
Q8BHB9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023670
AA Change: D464G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023670
Gene: ENSMUSG00000022949
AA Change: D464G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
62 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
108 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
169 |
N/A |
INTRINSIC |
|
low complexity region
|
193 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
225 |
245 |
N/A |
INTRINSIC |
|
low complexity region
|
275 |
287 |
N/A |
INTRINSIC |
|
low complexity region
|
308 |
318 |
N/A |
INTRINSIC |
|
Pfam:GST_N_3
|
375 |
447 |
2e-9 |
PFAM |
|
Pfam:GST_C_2
|
478 |
567 |
1.4e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162181
|
| SMART Domains |
Protein: ENSMUSP00000124498
Gene: ENSMUSG00000022949
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_N_3
|
34 |
100 |
2.8e-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.] This gene encodes a member of the chloride intracellular channel family of proteins. The gene is part of a large triplicated region found on chromosomes 1, 6, and 21. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
G |
11: 109,969,641 (GRCm39) |
|
probably benign |
Het |
| Acap3 |
T |
G |
4: 155,986,617 (GRCm39) |
L311R |
probably damaging |
Het |
| Actr6 |
T |
A |
10: 89,550,846 (GRCm39) |
N316I |
probably damaging |
Het |
| Adarb2 |
T |
A |
13: 8,619,994 (GRCm39) |
V160E |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,391,066 (GRCm39) |
|
probably null |
Het |
| Atp2b4 |
T |
C |
1: 133,659,627 (GRCm39) |
N445S |
probably damaging |
Het |
| Clk2 |
C |
T |
3: 89,083,698 (GRCm39) |
|
probably benign |
Het |
| Cyp4f40 |
A |
C |
17: 32,886,984 (GRCm39) |
T152P |
probably damaging |
Het |
| Dpp8 |
A |
T |
9: 64,952,998 (GRCm39) |
I225F |
probably damaging |
Het |
| Dspp |
A |
G |
5: 104,323,490 (GRCm39) |
Q211R |
possibly damaging |
Het |
| Gja1 |
T |
A |
10: 56,263,902 (GRCm39) |
V87E |
possibly damaging |
Het |
| Gm8165 |
T |
C |
14: 43,913,696 (GRCm39) |
E56G |
possibly damaging |
Het |
| Gstp2 |
T |
A |
19: 4,091,094 (GRCm39) |
|
probably benign |
Het |
| Gucy2e |
A |
G |
11: 69,126,942 (GRCm39) |
V177A |
probably benign |
Het |
| Insrr |
G |
A |
3: 87,720,434 (GRCm39) |
R1024H |
probably damaging |
Het |
| Iqgap2 |
A |
G |
13: 95,826,209 (GRCm39) |
W538R |
probably benign |
Het |
| Lrrc71 |
T |
C |
3: 87,650,378 (GRCm39) |
I232V |
probably damaging |
Het |
| Mphosph8 |
T |
A |
14: 56,933,178 (GRCm39) |
N808K |
probably damaging |
Het |
| Or8h10 |
T |
A |
2: 86,808,193 (GRCm39) |
R316* |
probably null |
Het |
| Pak6 |
T |
C |
2: 118,523,714 (GRCm39) |
S290P |
probably benign |
Het |
| Ptpro |
C |
T |
6: 137,387,978 (GRCm39) |
A734V |
probably damaging |
Het |
| Reg1 |
A |
T |
6: 78,404,321 (GRCm39) |
N65I |
probably damaging |
Het |
| Rnf17 |
T |
G |
14: 56,738,044 (GRCm39) |
I1275S |
probably damaging |
Het |
| Sfrp5 |
C |
T |
19: 42,187,468 (GRCm39) |
V201I |
probably benign |
Het |
| Sgsm1 |
T |
A |
5: 113,400,929 (GRCm39) |
H987L |
possibly damaging |
Het |
| Shank1 |
A |
T |
7: 44,006,361 (GRCm39) |
Y2026F |
possibly damaging |
Het |
| Slc15a2 |
T |
C |
16: 36,572,137 (GRCm39) |
|
probably null |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Taar8a |
T |
A |
10: 23,953,260 (GRCm39) |
I288N |
possibly damaging |
Het |
| Tpbpb |
T |
G |
13: 61,049,668 (GRCm39) |
*121C |
probably null |
Het |
| Trim29 |
A |
T |
9: 43,236,149 (GRCm39) |
N460I |
probably benign |
Het |
| Trp53tg5 |
T |
A |
2: 164,313,376 (GRCm39) |
I100F |
possibly damaging |
Het |
| Ubr2 |
T |
C |
17: 47,274,076 (GRCm39) |
T871A |
probably benign |
Het |
| Vrk1 |
A |
G |
12: 106,036,803 (GRCm39) |
E363G |
probably damaging |
Het |
| Zfyve19 |
C |
T |
2: 119,046,907 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Clic6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00421:Clic6
|
APN |
16 |
92,296,196 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02104:Clic6
|
APN |
16 |
92,295,367 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02437:Clic6
|
APN |
16 |
92,327,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02617:Clic6
|
APN |
16 |
92,296,206 (GRCm39) |
missense |
probably benign |
0.00 |
|
unsweetened
|
UTSW |
16 |
92,327,697 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1544:Clic6
|
UTSW |
16 |
92,288,961 (GRCm39) |
intron |
probably benign |
|
|
R1677:Clic6
|
UTSW |
16 |
92,324,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2149:Clic6
|
UTSW |
16 |
92,296,095 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3965:Clic6
|
UTSW |
16 |
92,295,732 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4171:Clic6
|
UTSW |
16 |
92,293,949 (GRCm39) |
intron |
probably benign |
|
|
R4545:Clic6
|
UTSW |
16 |
92,289,045 (GRCm39) |
intron |
probably benign |
|
|
R4637:Clic6
|
UTSW |
16 |
92,293,949 (GRCm39) |
intron |
probably benign |
|
|
R4649:Clic6
|
UTSW |
16 |
92,327,827 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5159:Clic6
|
UTSW |
16 |
92,324,954 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5249:Clic6
|
UTSW |
16 |
92,336,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5486:Clic6
|
UTSW |
16 |
92,326,740 (GRCm39) |
splice site |
probably null |
|
|
R5582:Clic6
|
UTSW |
16 |
92,296,342 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6140:Clic6
|
UTSW |
16 |
92,336,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6234:Clic6
|
UTSW |
16 |
92,296,110 (GRCm39) |
missense |
probably benign |
|
|
R6379:Clic6
|
UTSW |
16 |
92,336,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6593:Clic6
|
UTSW |
16 |
92,325,005 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7890:Clic6
|
UTSW |
16 |
92,296,275 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8794:Clic6
|
UTSW |
16 |
92,324,987 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8937:Clic6
|
UTSW |
16 |
92,296,245 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9450:Clic6
|
UTSW |
16 |
92,327,644 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9502:Clic6
|
UTSW |
16 |
92,295,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF012:Clic6
|
UTSW |
16 |
92,327,697 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
X0058:Clic6
|
UTSW |
16 |
92,295,595 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Clic6
|
UTSW |
16 |
92,295,783 (GRCm39) |
missense |
probably benign |
0.26 |
|
Z1177:Clic6
|
UTSW |
16 |
92,296,027 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Posted On |
2015-04-16 |
Incidental Mutation