Incidental Mutation 'R3965:Clic6'
ID |
312327 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clic6
|
Ensembl Gene |
ENSMUSG00000022949 |
Gene Name |
chloride intracellular channel 6 |
Synonyms |
CLIC1L, 5730466J16Rik |
MMRRC Submission |
040934-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.147)
|
Stock # |
R3965 (G1)
|
Quality Score |
203 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
92295035-92338129 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 92295732 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 131
(S131P)
|
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: S131P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000023670 Gene: ENSMUSG00000022949 AA Change: S131P
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: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.0%
|
Validation Efficiency |
100% (49/49) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
C1galt1c1 |
A |
T |
X: 37,720,453 (GRCm39) |
V181E |
probably benign |
Het |
Ccdc121 |
T |
A |
5: 31,645,335 (GRCm39) |
C363S |
probably benign |
Het |
Cep70 |
T |
A |
9: 99,180,587 (GRCm39) |
F581I |
probably damaging |
Het |
Cfap74 |
T |
A |
4: 155,531,174 (GRCm39) |
M809K |
probably damaging |
Het |
Ctc1 |
T |
A |
11: 68,921,954 (GRCm39) |
V800D |
probably damaging |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dlec1 |
A |
G |
9: 118,957,649 (GRCm39) |
I878V |
probably benign |
Het |
Elapor1 |
T |
C |
3: 108,365,765 (GRCm39) |
D998G |
probably damaging |
Het |
Esyt3 |
T |
A |
9: 99,202,375 (GRCm39) |
D512V |
probably damaging |
Het |
Ewsr1 |
T |
C |
11: 5,033,476 (GRCm39) |
Y232C |
unknown |
Het |
Exoc2 |
G |
A |
13: 31,061,565 (GRCm39) |
S492L |
probably benign |
Het |
Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
Grin2c |
G |
A |
11: 115,151,820 (GRCm39) |
R47W |
probably damaging |
Het |
Igfn1 |
T |
C |
1: 135,895,557 (GRCm39) |
T1670A |
probably benign |
Het |
Med31 |
C |
T |
11: 72,102,755 (GRCm39) |
A118T |
probably benign |
Het |
Mia2 |
T |
A |
12: 59,223,158 (GRCm39) |
S489T |
probably damaging |
Het |
Mov10l1 |
A |
G |
15: 88,896,366 (GRCm39) |
I737V |
probably benign |
Het |
Muc2 |
G |
A |
7: 141,286,233 (GRCm39) |
R120H |
probably benign |
Het |
Nckap1l |
T |
A |
15: 103,373,016 (GRCm39) |
C276* |
probably null |
Het |
Nrap |
T |
C |
19: 56,330,576 (GRCm39) |
S1126G |
probably damaging |
Het |
Oas1c |
A |
G |
5: 120,946,783 (GRCm39) |
F16L |
probably damaging |
Het |
Or10g9 |
A |
T |
9: 39,911,767 (GRCm39) |
V252E |
possibly damaging |
Het |
Or1ab2 |
G |
A |
8: 72,864,108 (GRCm39) |
G233R |
probably damaging |
Het |
Or5b123 |
T |
C |
19: 13,596,565 (GRCm39) |
L13P |
probably damaging |
Het |
Or8b51 |
G |
A |
9: 38,569,023 (GRCm39) |
L222F |
probably benign |
Het |
Pik3c2g |
A |
G |
6: 139,801,018 (GRCm39) |
M388V |
possibly damaging |
Het |
Pls1 |
T |
C |
9: 95,667,665 (GRCm39) |
Q81R |
probably benign |
Het |
Pole |
A |
G |
5: 110,460,648 (GRCm39) |
K1143E |
probably damaging |
Het |
Ppp6r2 |
A |
G |
15: 89,143,317 (GRCm39) |
K155E |
probably benign |
Het |
Rxra |
T |
A |
2: 27,642,318 (GRCm39) |
|
probably benign |
Het |
Susd5 |
A |
G |
9: 113,925,260 (GRCm39) |
E381G |
possibly damaging |
Het |
Svs5 |
T |
C |
2: 164,079,662 (GRCm39) |
T82A |
possibly damaging |
Het |
Syt14 |
A |
T |
1: 192,584,175 (GRCm39) |
H413Q |
probably benign |
Het |
Tg |
T |
A |
15: 66,556,039 (GRCm39) |
D910E |
probably benign |
Het |
Timd5 |
T |
A |
11: 46,426,340 (GRCm39) |
V149D |
possibly damaging |
Het |
Tpcn1 |
G |
T |
5: 120,694,640 (GRCm39) |
T143K |
probably damaging |
Het |
Trbv5 |
G |
T |
6: 41,039,342 (GRCm39) |
|
probably benign |
Het |
Trhr |
T |
A |
15: 44,061,095 (GRCm39) |
I205N |
possibly damaging |
Het |
Trp73 |
A |
G |
4: 154,146,493 (GRCm39) |
V422A |
probably benign |
Het |
Trpc6 |
G |
A |
9: 8,626,622 (GRCm39) |
C324Y |
probably damaging |
Het |
Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
Zfhx4 |
G |
T |
3: 5,468,907 (GRCm39) |
V3022F |
probably damaging |
Het |
Zswim8 |
G |
A |
14: 20,763,141 (GRCm39) |
V347I |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCGCTTCTAGAACCGCGAG -3'
(R):5'- ATGTTGTCCCCTGCAAGTCC -3'
Sequencing Primer
(F):5'- AAGGAGGTCGCTCCAGGTTC -3'
(R):5'- CCCTGGACTTCTGGGTTGATC -3'
|
Posted On |
2015-04-29 |