Incidental Mutation 'R6593:Clic6'
ID |
523486 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clic6
|
Ensembl Gene |
ENSMUSG00000022949 |
Gene Name |
chloride intracellular channel 6 |
Synonyms |
CLIC1L, 5730466J16Rik |
MMRRC Submission |
044717-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.147)
|
Stock # |
R6593 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
92295035-92338129 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 92325005 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 388
(I388V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023670
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023670]
[ENSMUST00000162181]
|
AlphaFold |
Q8BHB9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023670
AA Change: I388V
PolyPhen 2
Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000023670 Gene: ENSMUSG00000022949 AA Change: I388V
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 |
possibly damaging
Transcript: ENSMUST00000162181
AA Change: I47V
PolyPhen 2
Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000124498 Gene: ENSMUSG00000022949 AA Change: I47V
Domain | Start | End | E-Value | Type |
Pfam:GST_N_3
|
34 |
100 |
2.8e-10 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.2%
- 10x: 96.6%
- 20x: 89.6%
|
Validation Efficiency |
100% (37/37) |
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 |
Abcb1b |
C |
A |
5: 8,903,491 (GRCm39) |
N1047K |
probably benign |
Het |
AI597479 |
C |
A |
1: 43,150,408 (GRCm39) |
Q173K |
probably damaging |
Het |
Arhgef10 |
T |
C |
8: 15,012,522 (GRCm39) |
L282P |
probably damaging |
Het |
Arhgef10 |
T |
C |
8: 15,012,564 (GRCm39) |
I296T |
possibly damaging |
Het |
Atg2b |
A |
G |
12: 105,611,107 (GRCm39) |
S1275P |
probably damaging |
Het |
Cep290 |
T |
C |
10: 100,344,638 (GRCm39) |
M485T |
probably benign |
Het |
Clca3a2 |
A |
G |
3: 144,514,338 (GRCm39) |
|
probably null |
Het |
Clcn6 |
C |
T |
4: 148,095,226 (GRCm39) |
S731N |
probably benign |
Het |
Cpsf4l |
G |
T |
11: 113,600,192 (GRCm39) |
|
probably benign |
Het |
Dlg5 |
G |
A |
14: 24,200,720 (GRCm39) |
H1350Y |
probably benign |
Het |
Dnase2b |
T |
C |
3: 146,292,666 (GRCm39) |
Y169C |
probably damaging |
Het |
Elavl3 |
C |
T |
9: 21,929,843 (GRCm39) |
V354M |
possibly damaging |
Het |
Farp2 |
A |
C |
1: 93,497,662 (GRCm39) |
I231L |
possibly damaging |
Het |
Gcc2 |
T |
A |
10: 58,107,329 (GRCm39) |
M755K |
probably damaging |
Het |
Gpr88 |
T |
C |
3: 116,046,273 (GRCm39) |
T13A |
unknown |
Het |
Gstm3 |
T |
A |
3: 107,875,511 (GRCm39) |
N40Y |
probably benign |
Het |
Krtap5-2 |
A |
T |
7: 141,728,697 (GRCm39) |
C328S |
unknown |
Het |
Lpar1 |
A |
T |
4: 58,486,605 (GRCm39) |
V222E |
probably damaging |
Het |
Neto2 |
A |
G |
8: 86,396,175 (GRCm39) |
S192P |
probably damaging |
Het |
Odad1 |
T |
A |
7: 45,596,808 (GRCm39) |
D378E |
probably damaging |
Het |
Or52n3 |
C |
T |
7: 104,530,640 (GRCm39) |
T242I |
probably damaging |
Het |
Pcdhgb1 |
G |
T |
18: 37,815,134 (GRCm39) |
D542Y |
probably damaging |
Het |
Phldb2 |
G |
A |
16: 45,645,790 (GRCm39) |
Q264* |
probably null |
Het |
Ptgs2 |
G |
A |
1: 149,976,784 (GRCm39) |
D6N |
possibly damaging |
Het |
Rasef |
G |
T |
4: 73,663,327 (GRCm39) |
H167N |
probably damaging |
Het |
Rbbp4 |
A |
G |
4: 129,216,168 (GRCm39) |
L193S |
probably damaging |
Het |
Rigi |
T |
C |
4: 40,226,651 (GRCm39) |
I169V |
probably benign |
Het |
Sec24d |
T |
C |
3: 123,147,061 (GRCm39) |
F673S |
probably damaging |
Het |
Slc9b1 |
T |
C |
3: 135,063,219 (GRCm39) |
M1T |
probably null |
Het |
Stra6 |
A |
G |
9: 58,059,262 (GRCm39) |
T542A |
probably benign |
Het |
Stt3b |
T |
C |
9: 115,081,579 (GRCm39) |
Y569C |
probably damaging |
Het |
Traf3ip1 |
A |
G |
1: 91,455,417 (GRCm39) |
K626R |
possibly damaging |
Het |
Washc2 |
T |
A |
6: 116,236,210 (GRCm39) |
I1227N |
probably damaging |
Het |
Xpo7 |
G |
A |
14: 70,919,802 (GRCm39) |
A671V |
probably damaging |
Het |
Zfp799 |
A |
G |
17: 33,038,764 (GRCm39) |
Y501H |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAGTTAAATGGACTCAGAAGGTC -3'
(R):5'- CCTAGCAGTGTATGTGAGCATG -3'
Sequencing Primer
(F):5'- GACTCAGAAGGTCAAATACAGTAAC -3'
(R):5'- ATGTGAGCATGTTTGTGTGTGTACAC -3'
|
Posted On |
2018-06-22 |