Incidental Mutation 'IGL02617:Clic6'
| ID |
300715 |
| 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 # |
IGL02617
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
92295035-92338129 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 92296206 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 289
(K289E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023670
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023670]
[ENSMUST00000162181]
|
| AlphaFold |
Q8BHB9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023670
AA Change: K289E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000023670
Gene: ENSMUSG00000022949
AA Change: K289E
| 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 |
noncoding transcript
Transcript: ENSMUST00000160494
|
| SMART Domains |
Protein: ENSMUSP00000123968
Gene: ENSMUSG00000051297
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
22 |
N/A |
INTRINSIC |
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
C |
T |
16: 56,394,807 (GRCm39) |
Q172* |
probably null |
Het |
| Adgrg5 |
A |
G |
8: 95,660,610 (GRCm39) |
D79G |
probably benign |
Het |
| Aga |
G |
A |
8: 53,973,348 (GRCm39) |
D249N |
possibly damaging |
Het |
| Aifm3 |
A |
G |
16: 17,318,397 (GRCm39) |
Q170R |
probably null |
Het |
| Cdh2 |
T |
A |
18: 16,760,661 (GRCm39) |
N512Y |
probably damaging |
Het |
| Chd8 |
A |
G |
14: 52,472,648 (GRCm39) |
I385T |
probably benign |
Het |
| Ctcf |
G |
T |
8: 106,403,842 (GRCm39) |
|
probably benign |
Het |
| Fat1 |
T |
C |
8: 45,488,628 (GRCm39) |
Y3447H |
probably benign |
Het |
| Fhip1a |
A |
T |
3: 85,580,344 (GRCm39) |
D620E |
probably benign |
Het |
| Fmo2 |
T |
A |
1: 162,704,490 (GRCm39) |
Q472L |
probably damaging |
Het |
| Gcnt3 |
C |
A |
9: 69,941,444 (GRCm39) |
G375W |
probably damaging |
Het |
| Golga3 |
T |
A |
5: 110,336,612 (GRCm39) |
V417E |
probably benign |
Het |
| Hivep3 |
T |
C |
4: 119,952,641 (GRCm39) |
L319P |
probably benign |
Het |
| Kctd13 |
A |
G |
7: 126,541,504 (GRCm39) |
K248R |
possibly damaging |
Het |
| Magel2 |
G |
A |
7: 62,029,946 (GRCm39) |
R950H |
unknown |
Het |
| Niban1 |
T |
A |
1: 151,447,296 (GRCm39) |
S6T |
probably benign |
Het |
| Nmt2 |
A |
G |
2: 3,315,750 (GRCm39) |
I247V |
probably benign |
Het |
| Or14a256 |
T |
G |
7: 86,264,872 (GRCm39) |
H327P |
probably benign |
Het |
| Or1e30 |
T |
A |
11: 73,678,560 (GRCm39) |
N265K |
probably benign |
Het |
| Pcdhb12 |
T |
C |
18: 37,570,099 (GRCm39) |
V415A |
probably benign |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Prr27 |
T |
A |
5: 87,990,518 (GRCm39) |
N43K |
probably benign |
Het |
| Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
| Sec24a |
A |
T |
11: 51,603,014 (GRCm39) |
|
probably null |
Het |
| Srek1ip1 |
C |
A |
13: 104,973,984 (GRCm39) |
H130Q |
possibly damaging |
Het |
| Trio |
C |
T |
15: 27,841,935 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,608,614 (GRCm39) |
|
probably benign |
Het |
| Vmn2r65 |
C |
A |
7: 84,589,549 (GRCm39) |
S789I |
probably damaging |
Het |
| Zbtb17 |
A |
G |
4: 141,192,399 (GRCm39) |
Q448R |
probably damaging |
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 |
|
IGL02387:Clic6
|
APN |
16 |
92,326,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02437:Clic6
|
APN |
16 |
92,327,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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