Incidental Mutation 'R4545:Clic6'
| ID |
333736 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clic6
|
| Ensembl Gene |
ENSMUSG00000022949 |
| Gene Name |
chloride intracellular channel 6 |
| Synonyms |
CLIC1L, 5730466J16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.111)
|
| Stock # |
R4545 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
92485736-92541243 bp(+) (GRCm38) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to T
at 92492157 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124498
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000162181]
|
| AlphaFold |
Q8BHB9 |
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
98% (41/42) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c20 |
A |
C |
13: 4,507,844 (GRCm38) |
V201G |
probably damaging |
Het |
| Atf7 |
A |
G |
15: 102,534,327 (GRCm38) |
V449A |
probably benign |
Het |
| Ccr1 |
G |
A |
9: 123,964,400 (GRCm38) |
A31V |
probably benign |
Het |
| Chrna6 |
A |
T |
8: 27,406,683 (GRCm38) |
S389T |
probably benign |
Het |
| Cmya5 |
G |
A |
13: 93,091,918 (GRCm38) |
R2221* |
probably null |
Het |
| Coq8b |
G |
T |
7: 27,233,505 (GRCm38) |
C13F |
probably benign |
Het |
| Cspg4 |
T |
A |
9: 56,888,629 (GRCm38) |
L1216Q |
possibly damaging |
Het |
| Decr1 |
C |
A |
4: 15,930,979 (GRCm38) |
V118F |
probably damaging |
Het |
| Dlec1 |
A |
T |
9: 119,128,078 (GRCm38) |
I796F |
probably damaging |
Het |
| Dnajc11 |
T |
A |
4: 151,979,941 (GRCm38) |
D516E |
probably damaging |
Het |
| Dock8 |
G |
A |
19: 25,188,358 (GRCm38) |
V1869M |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,188,738 (GRCm38) |
D1982G |
probably damaging |
Het |
| Gnptab |
G |
A |
10: 88,414,595 (GRCm38) |
D190N |
probably benign |
Het |
| Golga4 |
A |
G |
9: 118,556,845 (GRCm38) |
K22E |
probably damaging |
Het |
| Hecw2 |
T |
C |
1: 53,813,222 (GRCm38) |
*1579W |
probably null |
Het |
| Ica1l |
A |
G |
1: 60,013,818 (GRCm38) |
|
probably null |
Het |
| Ift122 |
T |
A |
6: 115,890,588 (GRCm38) |
L433Q |
probably damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,762,567 (GRCm38) |
|
probably null |
Het |
| Klra13-ps |
T |
C |
6: 130,291,269 (GRCm38) |
|
noncoding transcript |
Het |
| Mndal |
A |
T |
1: 173,875,664 (GRCm38) |
Y58* |
probably null |
Het |
| Mvb12b |
G |
C |
2: 33,827,700 (GRCm38) |
P172R |
possibly damaging |
Het |
| Ncapg |
T |
C |
5: 45,671,212 (GRCm38) |
F102L |
probably damaging |
Het |
| Or1e30 |
T |
C |
11: 73,787,166 (GRCm38) |
V76A |
probably damaging |
Het |
| Or5an11 |
T |
C |
19: 12,268,824 (GRCm38) |
V198A |
possibly damaging |
Het |
| Or5b97 |
T |
A |
19: 12,901,268 (GRCm38) |
K171* |
probably null |
Het |
| Pde8a |
A |
T |
7: 81,328,099 (GRCm38) |
R713S |
probably damaging |
Het |
| Rbks |
T |
C |
5: 31,624,568 (GRCm38) |
N296S |
probably benign |
Het |
| Sema3c |
G |
A |
5: 17,694,772 (GRCm38) |
V421I |
probably benign |
Het |
| Tm9sf1 |
A |
G |
14: 55,638,108 (GRCm38) |
V393A |
possibly damaging |
Het |
| Tubgcp2 |
G |
A |
7: 139,996,071 (GRCm38) |
P893L |
possibly damaging |
Het |
| Uba52rt |
C |
T |
4: 3,973,244 (GRCm38) |
R106H |
probably benign |
Het |
| Vnn3 |
G |
A |
10: 23,856,326 (GRCm38) |
R158H |
probably benign |
Het |
| Zfa-ps |
G |
T |
10: 52,544,936 (GRCm38) |
|
noncoding transcript |
Het |
| Zfp414 |
T |
C |
17: 33,631,648 (GRCm38) |
|
probably benign |
Het |
| Zfp810 |
G |
A |
9: 22,278,745 (GRCm38) |
T289I |
probably damaging |
Het |
| Zfp819 |
G |
T |
7: 43,617,785 (GRCm38) |
R488L |
probably damaging |
Het |
| Zfp942 |
C |
T |
17: 21,928,304 (GRCm38) |
G448D |
probably benign |
Het |
| Zscan12 |
A |
G |
13: 21,366,705 (GRCm38) |
K165E |
possibly damaging |
Het |
|
| Other mutations in Clic6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00421:Clic6
|
APN |
16 |
92,499,308 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02104:Clic6
|
APN |
16 |
92,498,479 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
IGL02387:Clic6
|
APN |
16 |
92,529,919 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02437:Clic6
|
APN |
16 |
92,530,929 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02617:Clic6
|
APN |
16 |
92,499,318 (GRCm38) |
missense |
probably benign |
0.00 |
|
unsweetened
|
UTSW |
16 |
92,530,809 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R1544:Clic6
|
UTSW |
16 |
92,492,073 (GRCm38) |
intron |
probably benign |
|
|
R1677:Clic6
|
UTSW |
16 |
92,528,084 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2149:Clic6
|
UTSW |
16 |
92,499,207 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3965:Clic6
|
UTSW |
16 |
92,498,844 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4171:Clic6
|
UTSW |
16 |
92,497,061 (GRCm38) |
intron |
probably benign |
|
|
R4637:Clic6
|
UTSW |
16 |
92,497,061 (GRCm38) |
intron |
probably benign |
|
|
R4649:Clic6
|
UTSW |
16 |
92,530,939 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5159:Clic6
|
UTSW |
16 |
92,528,066 (GRCm38) |
missense |
probably benign |
0.13 |
|
R5249:Clic6
|
UTSW |
16 |
92,539,451 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5486:Clic6
|
UTSW |
16 |
92,529,852 (GRCm38) |
splice site |
probably null |
|
|
R5582:Clic6
|
UTSW |
16 |
92,499,454 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R6140:Clic6
|
UTSW |
16 |
92,539,492 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6234:Clic6
|
UTSW |
16 |
92,499,222 (GRCm38) |
missense |
probably benign |
|
|
R6379:Clic6
|
UTSW |
16 |
92,539,535 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6593:Clic6
|
UTSW |
16 |
92,528,117 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R7890:Clic6
|
UTSW |
16 |
92,499,387 (GRCm38) |
missense |
probably benign |
0.41 |
|
R8794:Clic6
|
UTSW |
16 |
92,528,099 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R8937:Clic6
|
UTSW |
16 |
92,499,357 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9450:Clic6
|
UTSW |
16 |
92,530,756 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9502:Clic6
|
UTSW |
16 |
92,498,700 (GRCm38) |
missense |
probably damaging |
1.00 |
|
RF012:Clic6
|
UTSW |
16 |
92,530,809 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
X0058:Clic6
|
UTSW |
16 |
92,498,707 (GRCm38) |
missense |
probably benign |
|
|
Z1176:Clic6
|
UTSW |
16 |
92,498,895 (GRCm38) |
missense |
probably benign |
0.26 |
|
Z1177:Clic6
|
UTSW |
16 |
92,499,139 (GRCm38) |
missense |
probably benign |
0.08 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAAATATTCACAGGTGGAGGC -3'
(R):5'- GGTGATCTTGGACTCCTGTC -3'
Sequencing Primer
(F):5'- AGGCAGAAGGTTTACATCGAGTTTC -3'
(R):5'- GTGATCTTGGACTCCTGTCAAATCAG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation