Incidental Mutation 'IGL01683:Clcc1'
| ID |
103870 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01683
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
108561229-108586156 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 108584112 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 499
(A499T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102224
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029482]
[ENSMUST00000029483]
[ENSMUST00000106609]
[ENSMUST00000106613]
|
| AlphaFold |
Q99LI2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029482
|
| SMART Domains |
Protein: ENSMUSP00000029482
Gene: ENSMUSG00000027883
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
62 |
95 |
7.86e-3 |
SMART |
|
TPR
|
102 |
135 |
4.34e-5 |
SMART |
|
Blast:TPR
|
142 |
188 |
9e-22 |
BLAST |
|
TPR
|
202 |
235 |
1.69e-2 |
SMART |
|
TPR
|
242 |
275 |
3.99e-4 |
SMART |
|
TPR
|
282 |
315 |
1.51e-4 |
SMART |
|
TPR
|
322 |
355 |
1.04e-2 |
SMART |
|
GoLoco
|
490 |
512 |
3.69e-9 |
SMART |
|
low complexity region
|
518 |
527 |
N/A |
INTRINSIC |
|
GoLoco
|
543 |
565 |
7.27e-8 |
SMART |
|
GoLoco
|
594 |
616 |
2.31e-10 |
SMART |
|
GoLoco
|
628 |
650 |
2.75e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029483
AA Change: A494T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000029483
Gene: ENSMUSG00000027884
AA Change: A494T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MCLC
|
3 |
539 |
2e-266 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106609
AA Change: A494T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000102220
Gene: ENSMUSG00000027884
AA Change: A494T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MCLC
|
3 |
539 |
2e-266 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106613
AA Change: A499T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000102224
Gene: ENSMUSG00000027884
AA Change: A499T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MCLC
|
8 |
544 |
N/A |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
T |
A |
16: 14,214,288 (GRCm39) |
L188Q |
probably damaging |
Het |
| Abcc8 |
T |
A |
7: 45,801,091 (GRCm39) |
I446F |
possibly damaging |
Het |
| Ankrd34c |
T |
C |
9: 89,611,850 (GRCm39) |
T164A |
probably benign |
Het |
| Bsn |
C |
A |
9: 107,992,095 (GRCm39) |
R1219L |
possibly damaging |
Het |
| Cdk2ap1 |
C |
T |
5: 124,488,242 (GRCm39) |
|
probably benign |
Het |
| Ces2f |
T |
C |
8: 105,679,733 (GRCm39) |
F409L |
probably benign |
Het |
| Foxm1 |
T |
G |
6: 128,350,451 (GRCm39) |
I584S |
probably benign |
Het |
| Ftcd |
T |
C |
10: 76,415,963 (GRCm39) |
I199T |
probably damaging |
Het |
| Gjb6 |
C |
A |
14: 57,361,815 (GRCm39) |
A149S |
probably benign |
Het |
| H2-M2 |
A |
T |
17: 37,792,406 (GRCm39) |
H288Q |
possibly damaging |
Het |
| Itprid2 |
T |
C |
2: 79,501,069 (GRCm39) |
|
probably benign |
Het |
| Os9 |
A |
G |
10: 126,935,972 (GRCm39) |
Y258H |
probably damaging |
Het |
| Phldb3 |
T |
C |
7: 24,318,862 (GRCm39) |
F337S |
possibly damaging |
Het |
| Pla2g4a |
T |
G |
1: 149,733,405 (GRCm39) |
Y448S |
probably benign |
Het |
| Sgk3 |
T |
A |
1: 9,952,091 (GRCm39) |
V239D |
probably damaging |
Het |
| Tek |
T |
C |
4: 94,747,148 (GRCm39) |
Y903H |
probably damaging |
Het |
| Tenm4 |
C |
A |
7: 96,534,611 (GRCm39) |
H1752Q |
possibly damaging |
Het |
| Tns1 |
C |
T |
1: 73,992,428 (GRCm39) |
R750Q |
probably damaging |
Het |
| Tubb2a |
A |
T |
13: 34,260,530 (GRCm39) |
|
probably null |
Het |
| Zfp106 |
T |
C |
2: 120,355,036 (GRCm39) |
N1245S |
probably benign |
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 |
|
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 |
|
B6584:Clcc1
|
UTSW |
3 |
108,580,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2014-01-21 |
Incidental Mutation