Incidental Mutation 'IGL00421:Clic6'
| ID |
3945 |
| 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 # |
IGL00421
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
92295035-92338129 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 92296196 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 285
(E285D)
|
| 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: E285D
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000023670
Gene: ENSMUSG00000022949
AA Change: E285D
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap8 |
T |
C |
17: 32,536,254 (GRCm39) |
Y53C |
probably damaging |
Het |
| Ampd3 |
C |
T |
7: 110,402,354 (GRCm39) |
R453C |
probably benign |
Het |
| Apob |
A |
C |
12: 8,060,197 (GRCm39) |
D2860A |
probably damaging |
Het |
| Arhgef1 |
C |
A |
7: 24,607,784 (GRCm39) |
R52S |
possibly damaging |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| Cacna1i |
A |
T |
15: 80,266,220 (GRCm39) |
D1569V |
probably damaging |
Het |
| Dok5 |
T |
G |
2: 170,671,876 (GRCm39) |
|
probably null |
Het |
| Gpr89 |
A |
G |
3: 96,805,839 (GRCm39) |
F24S |
probably damaging |
Het |
| Grsf1 |
T |
C |
5: 88,818,137 (GRCm39) |
D84G |
probably damaging |
Het |
| Kif27 |
T |
C |
13: 58,491,703 (GRCm39) |
K479E |
probably damaging |
Het |
| Mx2 |
A |
T |
16: 97,345,678 (GRCm39) |
N32I |
probably damaging |
Het |
| Myo16 |
G |
T |
8: 10,488,889 (GRCm39) |
V687F |
probably damaging |
Het |
| Nlrp3 |
A |
G |
11: 59,456,769 (GRCm39) |
D977G |
probably damaging |
Het |
| Nol6 |
A |
T |
4: 41,123,374 (GRCm39) |
V97E |
possibly damaging |
Het |
| Pcdh15 |
T |
A |
10: 74,021,177 (GRCm39) |
Y130* |
probably null |
Het |
| Pnpla7 |
T |
A |
2: 24,866,327 (GRCm39) |
|
probably null |
Het |
| Pramel51 |
A |
T |
12: 88,143,882 (GRCm39) |
D310E |
probably benign |
Het |
| Prcc |
A |
T |
3: 87,779,515 (GRCm39) |
|
probably null |
Het |
| Sbf2 |
A |
C |
7: 109,975,039 (GRCm39) |
|
probably benign |
Het |
| Secisbp2l |
C |
A |
2: 125,585,776 (GRCm39) |
V859F |
probably damaging |
Het |
| Sptbn2 |
C |
A |
19: 4,774,733 (GRCm39) |
Q129K |
possibly damaging |
Het |
| Srrm2 |
G |
A |
17: 24,031,452 (GRCm39) |
S295N |
probably benign |
Het |
| Tacr3 |
A |
C |
3: 134,560,582 (GRCm39) |
I174L |
probably benign |
Het |
| Tchp |
A |
C |
5: 114,846,794 (GRCm39) |
D27A |
probably benign |
Het |
| Usp31 |
A |
T |
7: 121,247,873 (GRCm39) |
V1190D |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,023,576 (GRCm39) |
T2122A |
probably benign |
Het |
|
| Other mutations in Clic6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-04-20 |
Incidental Mutation