Incidental Mutation 'R3932:Clcc1'
| ID |
308490 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clcc1
|
| Ensembl Gene |
ENSMUSG00000027884 |
| Gene Name |
chloride channel CLIC-like 1 |
| Synonyms |
Mclc |
| MMRRC Submission |
040919-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3932 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
108561229-108586156 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108580682 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 332
(M332T)
|
| 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: M327T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029483
Gene: ENSMUSG00000027884
AA Change: M327T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MCLC
|
3 |
539 |
2e-266 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106609
AA Change: M327T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102220
Gene: ENSMUSG00000027884
AA Change: M327T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MCLC
|
3 |
539 |
2e-266 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106613
AA Change: M332T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102224
Gene: ENSMUSG00000027884
AA Change: M332T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MCLC
|
8 |
544 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139016
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156811
|
| Meta Mutation Damage Score |
0.6603 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.1%
|
| Validation Efficiency |
100% (52/52) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3b2 |
C |
T |
7: 81,123,598 (GRCm39) |
|
probably benign |
Het |
| Arl1 |
C |
T |
10: 88,569,398 (GRCm39) |
|
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atp10a |
T |
C |
7: 58,476,852 (GRCm39) |
M1189T |
possibly damaging |
Het |
| Bcl2l14 |
A |
G |
6: 134,400,771 (GRCm39) |
D64G |
probably damaging |
Het |
| Cdc34b |
G |
A |
11: 94,633,441 (GRCm39) |
V214M |
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,665,619 (GRCm39) |
T2985A |
probably benign |
Het |
| Coch |
T |
C |
12: 51,650,121 (GRCm39) |
I370T |
probably damaging |
Het |
| Ctdnep1 |
A |
G |
11: 69,880,400 (GRCm39) |
|
probably benign |
Het |
| Edar |
C |
T |
10: 58,446,164 (GRCm39) |
C221Y |
probably damaging |
Het |
| Fam135b |
T |
A |
15: 71,322,280 (GRCm39) |
Q1295L |
probably benign |
Het |
| Fam184a |
C |
T |
10: 53,575,397 (GRCm39) |
A71T |
probably damaging |
Het |
| Fbxw10 |
A |
G |
11: 62,759,983 (GRCm39) |
|
probably benign |
Het |
| Frmd4a |
T |
C |
2: 4,542,071 (GRCm39) |
W247R |
probably damaging |
Het |
| Gcn1 |
A |
G |
5: 115,725,893 (GRCm39) |
H553R |
probably benign |
Het |
| Grin3a |
C |
T |
4: 49,672,472 (GRCm39) |
|
probably null |
Het |
| H2-Q6 |
C |
T |
17: 35,644,542 (GRCm39) |
|
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,242,879 (GRCm39) |
V670A |
probably damaging |
Het |
| Med10 |
A |
G |
13: 69,958,101 (GRCm39) |
N18D |
probably damaging |
Het |
| Mgat4b |
T |
A |
11: 50,124,165 (GRCm39) |
H368Q |
possibly damaging |
Het |
| Morn5 |
C |
A |
2: 35,943,035 (GRCm39) |
T45N |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Msl3 |
C |
T |
X: 167,454,813 (GRCm39) |
A87T |
probably damaging |
Het |
| Myrf |
T |
C |
19: 10,195,515 (GRCm39) |
T432A |
probably damaging |
Het |
| Nalf2 |
G |
A |
X: 98,865,470 (GRCm39) |
V266M |
possibly damaging |
Het |
| Nav3 |
T |
A |
10: 109,529,896 (GRCm39) |
E2148D |
probably damaging |
Het |
| Nfe2l3 |
A |
G |
6: 51,433,595 (GRCm39) |
T236A |
possibly damaging |
Het |
| Odc1 |
T |
A |
12: 17,598,801 (GRCm39) |
F227Y |
probably benign |
Het |
| Opa1 |
A |
T |
16: 29,429,698 (GRCm39) |
E401D |
probably damaging |
Het |
| Or5b21 |
T |
C |
19: 12,839,994 (GRCm39) |
M285T |
possibly damaging |
Het |
| Pdcd1 |
T |
C |
1: 93,968,989 (GRCm39) |
I110V |
probably benign |
Het |
| Pde5a |
G |
A |
3: 122,554,545 (GRCm39) |
E212K |
probably damaging |
Het |
| Plin4 |
A |
G |
17: 56,413,704 (GRCm39) |
I307T |
probably benign |
Het |
| Rag1 |
T |
C |
2: 101,473,384 (GRCm39) |
Y586C |
probably damaging |
Het |
| Rgs7bp |
T |
C |
13: 105,189,506 (GRCm39) |
M98V |
probably benign |
Het |
| Rgs9 |
A |
G |
11: 109,166,639 (GRCm39) |
|
probably benign |
Het |
| Rin3 |
A |
G |
12: 102,356,342 (GRCm39) |
D961G |
probably damaging |
Het |
| Rubcn |
A |
G |
16: 32,649,629 (GRCm39) |
|
probably null |
Het |
| Slc13a2 |
T |
A |
11: 78,289,226 (GRCm39) |
Y495F |
probably damaging |
Het |
| Tfec |
T |
A |
6: 16,845,458 (GRCm39) |
D67V |
probably damaging |
Het |
| Tmem94 |
T |
C |
11: 115,680,080 (GRCm39) |
M30T |
probably benign |
Het |
| Tsbp1 |
A |
G |
17: 34,662,417 (GRCm39) |
T86A |
possibly damaging |
Het |
| Tubgcp6 |
A |
G |
15: 88,988,617 (GRCm39) |
|
probably benign |
Het |
| Vmn2r10 |
C |
A |
5: 109,150,088 (GRCm39) |
A319S |
possibly damaging |
Het |
| Vmn2r85 |
T |
C |
10: 130,254,336 (GRCm39) |
M783V |
probably damaging |
Het |
| Zfp422 |
T |
C |
6: 116,603,420 (GRCm39) |
K193R |
probably benign |
Het |
| Zfp94 |
T |
G |
7: 24,003,112 (GRCm39) |
D110A |
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 |
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGAGCGTCAGTGCACAG -3'
(R):5'- AAACTCGAGAACTTCTGATTAGAGG -3'
Sequencing Primer
(F):5'- CAGTGCACAGTGAAGTTTTGC -3'
(R):5'- TCACCTTATACGTGTAAGCACAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation