Incidental Mutation 'R4637:Clic6'
| ID |
381215 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clic6
|
| Ensembl Gene |
ENSMUSG00000022949 |
| Gene Name |
chloride intracellular channel 6 |
| Synonyms |
CLIC1L, 5730466J16Rik |
| MMRRC Submission |
042010-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
R4637 (G1)
|
| Quality Score |
60 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
92295035-92338129 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 92293949 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124498
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023670]
[ENSMUST00000162181]
|
| AlphaFold |
Q8BHB9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023670
|
| SMART Domains |
Protein: ENSMUSP00000023670
Gene: ENSMUSG00000022949
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
96% (27/28) |
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Art1 |
T |
A |
7: 101,755,544 (GRCm39) |
V12E |
probably damaging |
Het |
| Ccdc121 |
G |
A |
5: 31,645,435 (GRCm39) |
R396Q |
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,914,443 (GRCm39) |
S653G |
probably benign |
Het |
| Fras1 |
T |
A |
5: 96,925,947 (GRCm39) |
L3717Q |
probably damaging |
Het |
| Gpat3 |
C |
T |
5: 101,005,039 (GRCm39) |
P58L |
probably benign |
Het |
| Gtf2f1 |
G |
T |
17: 57,311,534 (GRCm39) |
P292H |
probably benign |
Het |
| Hcn1 |
A |
T |
13: 118,112,249 (GRCm39) |
T738S |
unknown |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hmbs |
A |
G |
9: 44,250,834 (GRCm39) |
S130P |
probably damaging |
Het |
| Kif1b |
A |
T |
4: 149,283,768 (GRCm39) |
I1299N |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Muc17 |
A |
T |
5: 137,175,502 (GRCm39) |
L56Q |
probably damaging |
Het |
| Myd88 |
G |
A |
9: 119,167,175 (GRCm39) |
|
probably null |
Het |
| Nol6 |
G |
A |
4: 41,121,788 (GRCm39) |
R249W |
probably damaging |
Het |
| Or4g17 |
C |
T |
2: 111,209,927 (GRCm39) |
T194I |
probably benign |
Het |
| Pcdhb1 |
T |
C |
18: 37,398,802 (GRCm39) |
V251A |
possibly damaging |
Het |
| Prkcd |
A |
G |
14: 30,320,722 (GRCm39) |
S633P |
probably benign |
Het |
| Rarb |
T |
C |
14: 16,574,875 (GRCm38) |
H47R |
possibly damaging |
Het |
| Slc16a14 |
A |
G |
1: 84,885,003 (GRCm39) |
V512A |
possibly damaging |
Het |
| Slc34a3 |
C |
T |
2: 25,119,473 (GRCm39) |
V466M |
possibly damaging |
Het |
| Stat3 |
A |
G |
11: 100,784,056 (GRCm39) |
S623P |
probably damaging |
Het |
| Vmn2r16 |
T |
G |
5: 109,478,280 (GRCm39) |
S12A |
probably benign |
Het |
| Zfhx4 |
C |
G |
3: 5,468,464 (GRCm39) |
P2874R |
probably damaging |
Het |
| Zfp3 |
T |
C |
11: 70,662,181 (GRCm39) |
S47P |
probably benign |
Het |
| Zfp791 |
T |
C |
8: 85,836,514 (GRCm39) |
E450G |
possibly 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTCCATCATTCTTAGGCAAC -3'
(R):5'- AACTGGGCCAGGAGTCCC -3'
Sequencing Primer
(F):5'- CCAGCATTTTATCGAGACGTGACG -3'
(R):5'- AACTGTGAGGCCAGCATTTC -3'
|
| Posted On |
2016-04-19 |
Incidental Mutation