Incidental Mutation 'R3546:Clcc1'
| ID |
268196 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clcc1
|
| Ensembl Gene |
ENSMUSG00000027884 |
| Gene Name |
chloride channel CLIC-like 1 |
| Synonyms |
Mclc |
| MMRRC Submission |
040665-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3546 (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: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
100% (31/31) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
A |
G |
1: 130,668,926 (GRCm39) |
|
probably benign |
Het |
| Bves |
A |
G |
10: 45,230,907 (GRCm39) |
R293G |
probably damaging |
Het |
| Ceacam1 |
T |
C |
7: 25,171,339 (GRCm39) |
N375S |
probably benign |
Het |
| Celf3 |
T |
G |
3: 94,395,845 (GRCm39) |
C304G |
probably damaging |
Het |
| Cyth1 |
A |
G |
11: 118,083,262 (GRCm39) |
V46A |
probably damaging |
Het |
| Ddx23 |
G |
A |
15: 98,548,613 (GRCm39) |
T365M |
probably damaging |
Het |
| Etaa1 |
A |
G |
11: 17,903,823 (GRCm39) |
|
probably benign |
Het |
| Fap |
A |
C |
2: 62,349,355 (GRCm39) |
L478R |
probably damaging |
Het |
| Golga7b |
T |
C |
19: 42,255,510 (GRCm39) |
M129T |
possibly damaging |
Het |
| Hdac7 |
G |
T |
15: 97,705,890 (GRCm39) |
Q361K |
probably damaging |
Het |
| Itk |
A |
G |
11: 46,246,675 (GRCm39) |
L181P |
probably benign |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Khdc4 |
A |
G |
3: 88,600,443 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,490,300 (GRCm39) |
L287H |
probably damaging |
Het |
| Mei1 |
A |
G |
15: 81,982,243 (GRCm39) |
Y677C |
probably damaging |
Het |
| Mslnl |
T |
C |
17: 25,963,943 (GRCm39) |
V424A |
probably damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,317,939 (GRCm39) |
F1959L |
probably damaging |
Het |
| Nlrp6 |
T |
G |
7: 140,506,682 (GRCm39) |
V849G |
probably benign |
Het |
| Or6b13 |
A |
G |
7: 139,782,014 (GRCm39) |
I223T |
probably damaging |
Het |
| Pdilt |
C |
A |
7: 119,099,711 (GRCm39) |
E186* |
probably null |
Het |
| Ppp1r27 |
T |
A |
11: 120,441,511 (GRCm39) |
I90F |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,432,598 (GRCm39) |
V134A |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc16a7 |
T |
A |
10: 125,130,569 (GRCm39) |
K39* |
probably null |
Het |
| Sult6b1 |
G |
A |
17: 79,214,336 (GRCm39) |
T29I |
probably benign |
Het |
| Tbc1d1 |
G |
A |
5: 64,443,350 (GRCm39) |
R523Q |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,575,450 (GRCm39) |
I25148F |
probably damaging |
Het |
| Ush1g |
T |
A |
11: 115,209,723 (GRCm39) |
H157L |
probably damaging |
Het |
| Utp20 |
T |
C |
10: 88,618,551 (GRCm39) |
K1150E |
probably damaging |
Het |
| Vmn1r7 |
A |
G |
6: 57,001,834 (GRCm39) |
I142T |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGGTAACTGACGTAGCCTG -3'
(R):5'- AGCAGTGAAACAGCCCTAAG -3'
Sequencing Primer
(F):5'- CTGACGTAGCCTGATGAGAAC -3'
(R):5'- CAGCTTCAGATGAAATGACCTG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation