Incidental Mutation 'R3548:Clcc1'
ID |
268299 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clcc1
|
Ensembl Gene |
ENSMUSG00000027884 |
Gene Name |
chloride channel CLIC-like 1 |
Synonyms |
Mclc |
MMRRC Submission |
040667-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3548 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
108561229-108586156 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 108575429 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 169
(C169S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102224
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029483]
[ENSMUST00000106609]
[ENSMUST00000106613]
[ENSMUST00000124384]
|
AlphaFold |
Q99LI2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029483
AA Change: C164S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000029483 Gene: ENSMUSG00000027884 AA Change: C164S
Domain | Start | End | E-Value | Type |
Pfam:MCLC
|
3 |
539 |
2e-266 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106609
AA Change: C164S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000102220 Gene: ENSMUSG00000027884 AA Change: C164S
Domain | Start | End | E-Value | Type |
Pfam:MCLC
|
3 |
539 |
2e-266 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106613
AA Change: C169S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000102224 Gene: ENSMUSG00000027884 AA Change: C169S
Domain | Start | End | E-Value | Type |
Pfam:MCLC
|
8 |
544 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124384
|
SMART Domains |
Protein: ENSMUSP00000118529 Gene: ENSMUSG00000027884
Domain | Start | End | E-Value | Type |
Pfam:MCLC
|
3 |
84 |
4.2e-37 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130352
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139016
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156811
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 92.8%
|
Validation Efficiency |
97% (35/36) |
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Amph |
C |
A |
13: 19,287,129 (GRCm39) |
H279Q |
probably damaging |
Het |
Ankrd28 |
A |
G |
14: 31,437,217 (GRCm39) |
L646S |
probably benign |
Het |
Bmal1 |
A |
T |
7: 112,912,752 (GRCm39) |
I610F |
probably damaging |
Het |
Celf3 |
T |
G |
3: 94,395,845 (GRCm39) |
C304G |
probably damaging |
Het |
Chrnb2 |
T |
A |
3: 89,668,898 (GRCm39) |
Y139F |
probably benign |
Het |
Clip1 |
A |
G |
5: 123,769,141 (GRCm39) |
L532P |
probably damaging |
Het |
Cr2 |
A |
T |
1: 194,838,196 (GRCm39) |
C1089* |
probably null |
Het |
Dnah10 |
A |
T |
5: 124,824,694 (GRCm39) |
I617F |
possibly damaging |
Het |
F12 |
T |
C |
13: 55,565,950 (GRCm39) |
N132D |
probably benign |
Het |
Fhit |
T |
C |
14: 9,870,095 (GRCm38) |
T125A |
probably benign |
Het |
Frs3 |
T |
G |
17: 48,014,561 (GRCm39) |
I418S |
probably damaging |
Het |
Gpr149 |
A |
T |
3: 62,502,549 (GRCm39) |
C436S |
probably benign |
Het |
Igsf10 |
C |
A |
3: 59,243,935 (GRCm39) |
R133L |
probably damaging |
Het |
Il17rb |
A |
G |
14: 29,730,729 (GRCm39) |
|
probably null |
Het |
Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
Khdc4 |
A |
G |
3: 88,600,443 (GRCm39) |
|
probably benign |
Het |
Mtus2 |
C |
A |
5: 148,232,316 (GRCm39) |
H120Q |
probably damaging |
Het |
Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
Ncf1 |
T |
A |
5: 134,255,463 (GRCm39) |
K143* |
probably null |
Het |
Nes |
C |
A |
3: 87,880,429 (GRCm39) |
|
probably benign |
Het |
Nid2 |
T |
A |
14: 19,813,779 (GRCm39) |
Y195N |
probably damaging |
Het |
Nlrp9c |
A |
T |
7: 26,070,876 (GRCm39) |
C790S |
probably damaging |
Het |
Or5b12 |
A |
T |
19: 12,897,031 (GRCm39) |
I214N |
probably benign |
Het |
Phf24 |
T |
G |
4: 42,937,879 (GRCm39) |
Y85* |
probably null |
Het |
Pycr1 |
T |
C |
11: 120,533,072 (GRCm39) |
S33G |
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sirt2 |
A |
G |
7: 28,467,096 (GRCm39) |
E19G |
probably damaging |
Het |
Sort1 |
T |
C |
3: 108,245,225 (GRCm39) |
V359A |
possibly damaging |
Het |
Tnni1 |
A |
G |
1: 135,732,791 (GRCm39) |
|
probably null |
Het |
Ube2q1 |
T |
A |
3: 89,688,383 (GRCm39) |
M183K |
probably damaging |
Het |
Vmn1r50 |
T |
A |
6: 90,084,476 (GRCm39) |
F74I |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGGTAACTGACGTAGCCTG -3'
(R):5'- AGCAGTGAAACAGCCCTAAG -3'
Sequencing Primer
(F):5'- CTGACGTAGCCTGATGAGAAC -3'
(R):5'- CAGCTTCAGATGAAATGACCTG -3'
|
Posted On |
2015-02-19 |