Incidental Mutation 'B6584:Clcc1'
| ID |
630 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clcc1
|
| Ensembl Gene |
ENSMUSG00000027884 |
| Gene Name |
chloride channel CLIC-like 1 |
| Synonyms |
Mclc |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
B6584 (G3)
of strain
supermodel
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
108561229-108586156 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 108580229 bp (GRCm39)
|
| Zygosity |
Homozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 302
(T302I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102224
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029483]
[ENSMUST00000106609]
[ENSMUST00000106613]
|
| AlphaFold |
Q99LI2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029483
AA Change: T297I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029483
Gene: ENSMUSG00000027884
AA Change: T297I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MCLC
|
3 |
539 |
2e-266 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106609
AA Change: T297I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102220
Gene: ENSMUSG00000027884
AA Change: T297I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MCLC
|
3 |
539 |
2e-266 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106613
AA Change: T302I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102224
Gene: ENSMUSG00000027884
AA Change: T302I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MCLC
|
8 |
544 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130352
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139016
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156811
|
| Meta Mutation Damage Score |
0.8624 |
| Coding Region Coverage |
|
| Het Detection Efficiency |
43.9% |
| Validation Efficiency |
89% (133/150) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a spontaneous mutation show strain-dependent cerebellar granule cell death and peripheral motor axon degeneration. The peripheral neuropathy, neurogenic muscular atrophy and mild truncal ataxia observed on the C57BL/6J background is not found on the C3H/HeSnJ background. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(12) : Targeted(1) Gene trapped(11)
|
| Other mutations in this stock |
Total: 12 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700102H20Rik |
C |
T |
17: 3,609,853 (GRCm39) |
|
probably benign |
Homo |
| Acadl |
T |
A |
1: 66,887,632 (GRCm39) |
|
probably benign |
Het |
| Astn2 |
C |
T |
4: 65,910,624 (GRCm39) |
V403M |
probably damaging |
Het |
| Hormad1 |
T |
A |
3: 95,478,007 (GRCm39) |
|
probably benign |
Homo |
| Resf1 |
C |
T |
6: 149,230,844 (GRCm39) |
H1297Y |
probably damaging |
Het |
| Rnf213 |
C |
T |
11: 119,316,895 (GRCm39) |
T1007I |
probably damaging |
Het |
| Rrh |
T |
C |
3: 129,605,391 (GRCm39) |
N239D |
probably damaging |
Homo |
| Samd4 |
A |
C |
14: 47,253,794 (GRCm39) |
H86P |
probably damaging |
Homo |
| Slc27a2 |
T |
C |
2: 126,403,562 (GRCm39) |
L195P |
possibly damaging |
Het |
| Srek1ip1 |
T |
C |
13: 104,953,882 (GRCm39) |
|
probably benign |
Het |
| Tars2 |
T |
C |
3: 95,649,462 (GRCm39) |
|
probably null |
Homo |
| Zfp37 |
A |
T |
4: 62,109,615 (GRCm39) |
V521E |
probably damaging |
Het |
|
| Other mutations in Clcc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01443:Clcc1
|
APN |
3 |
108,578,219 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01683:Clcc1
|
APN |
3 |
108,584,112 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02067:Clcc1
|
APN |
3 |
108,576,037 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02341:Clcc1
|
APN |
3 |
108,580,699 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0014:Clcc1
|
UTSW |
3 |
108,568,712 (GRCm39) |
nonsense |
probably null |
|
|
R0733:Clcc1
|
UTSW |
3 |
108,582,056 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1151:Clcc1
|
UTSW |
3 |
108,575,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1432:Clcc1
|
UTSW |
3 |
108,575,418 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3546:Clcc1
|
UTSW |
3 |
108,575,429 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3547:Clcc1
|
UTSW |
3 |
108,575,429 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3548:Clcc1
|
UTSW |
3 |
108,575,429 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3932:Clcc1
|
UTSW |
3 |
108,580,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4210:Clcc1
|
UTSW |
3 |
108,570,907 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4211:Clcc1
|
UTSW |
3 |
108,570,907 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4756:Clcc1
|
UTSW |
3 |
108,580,236 (GRCm39) |
splice site |
probably null |
|
|
R4856:Clcc1
|
UTSW |
3 |
108,584,154 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4886:Clcc1
|
UTSW |
3 |
108,584,154 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5858:Clcc1
|
UTSW |
3 |
108,568,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6258:Clcc1
|
UTSW |
3 |
108,580,624 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6301:Clcc1
|
UTSW |
3 |
108,580,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6414:Clcc1
|
UTSW |
3 |
108,584,167 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6944:Clcc1
|
UTSW |
3 |
108,578,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6965:Clcc1
|
UTSW |
3 |
108,580,625 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7331:Clcc1
|
UTSW |
3 |
108,575,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7961:Clcc1
|
UTSW |
3 |
108,568,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8009:Clcc1
|
UTSW |
3 |
108,568,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9313:Clcc1
|
UTSW |
3 |
108,581,976 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Nature of Mutation |
 DNA sequencing using the SOLiD technique identified a C to T transition at position 970 of the Clcc1 transcript in exon 8 of 12 total exons. Multiple transcripts of the Clcc1 gene are displayed on Ensembl and Vega. The mutated nucleotide causes a threonine to isoleucine substitution at amino acid 297 of the encoded protein using Ensembl ENSMUST00000106609. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
|
| Protein Function and Prediction |
The Clcc1 gene encodes multiple isoforms of a chloride ion channel. The protein contains three transmembrane domains at amino acids 185-205, 216-236, and 330-350 (Uniprot Q99LI2).
The T297I alteration occurs near the third transmembrane domain.
|
| Posted On |
2011-04-12 |
Incidental Mutation