Incidental Mutation 'R4211:Clcc1'
| ID |
319181 |
| 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 # |
R4211 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
108561229-108586156 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 108570907 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 105
(Y105F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102224
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029483]
[ENSMUST00000106609]
[ENSMUST00000106613]
[ENSMUST00000124384]
|
| AlphaFold |
Q99LI2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029483
AA Change: Y100F
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000029483
Gene: ENSMUSG00000027884
AA Change: Y100F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MCLC
|
3 |
539 |
2e-266 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106609
AA Change: Y100F
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102220
Gene: ENSMUSG00000027884
AA Change: Y100F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MCLC
|
3 |
539 |
2e-266 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106613
AA Change: Y105F
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102224
Gene: ENSMUSG00000027884
AA Change: Y105F
| 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: ENSMUST00000125274
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130352
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139016
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156811
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
T |
C |
10: 10,283,209 (GRCm39) |
I166V |
probably benign |
Het |
| Albfm1 |
T |
G |
5: 90,712,096 (GRCm39) |
V63G |
probably damaging |
Het |
| Anapc5 |
T |
C |
5: 122,955,968 (GRCm39) |
E154G |
probably benign |
Het |
| Anpep |
A |
T |
7: 79,490,744 (GRCm39) |
Y257* |
probably null |
Het |
| Atp8b1 |
A |
T |
18: 64,686,118 (GRCm39) |
D688E |
probably damaging |
Het |
| Bub1b |
C |
A |
2: 118,461,459 (GRCm39) |
H670Q |
possibly damaging |
Het |
| Casp3 |
G |
T |
8: 47,088,423 (GRCm39) |
D107Y |
probably damaging |
Het |
| Castor2 |
T |
C |
5: 134,154,783 (GRCm39) |
|
probably null |
Het |
| Cr2 |
A |
C |
1: 194,838,636 (GRCm39) |
L671R |
probably damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,427,542 (GRCm39) |
V713A |
probably damaging |
Het |
| Cyp4a31 |
T |
C |
4: 115,422,210 (GRCm39) |
F65L |
probably benign |
Het |
| Dpysl2 |
T |
C |
14: 67,052,926 (GRCm39) |
S308G |
probably damaging |
Het |
| Dusp22 |
A |
T |
13: 30,892,726 (GRCm39) |
I168F |
probably benign |
Het |
| Ecel1 |
A |
G |
1: 87,079,872 (GRCm39) |
S414P |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,174,810 (GRCm39) |
F1968L |
probably damaging |
Het |
| Fsip2 |
C |
T |
2: 82,805,493 (GRCm39) |
T604I |
probably damaging |
Het |
| H2-DMb1 |
T |
A |
17: 34,374,547 (GRCm39) |
F66I |
possibly damaging |
Het |
| Hgf |
T |
C |
5: 16,819,991 (GRCm39) |
V574A |
probably damaging |
Het |
| Hoxa7 |
A |
T |
6: 52,193,605 (GRCm39) |
Y137* |
probably null |
Het |
| Ikbke |
T |
A |
1: 131,191,085 (GRCm39) |
I519F |
probably damaging |
Het |
| Inpp5j |
T |
G |
11: 3,451,107 (GRCm39) |
H514P |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,738,070 (GRCm39) |
|
probably benign |
Het |
| Larp7 |
T |
A |
3: 127,340,603 (GRCm39) |
R112S |
probably benign |
Het |
| Lepr |
C |
T |
4: 101,590,611 (GRCm39) |
A63V |
probably benign |
Het |
| Lmx1a |
G |
T |
1: 167,660,428 (GRCm39) |
V238L |
probably damaging |
Het |
| Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
| Mcmbp |
T |
C |
7: 128,317,729 (GRCm39) |
E172G |
possibly damaging |
Het |
| Mcpt8 |
G |
A |
14: 56,321,375 (GRCm39) |
H30Y |
probably damaging |
Het |
| Nek8 |
C |
A |
11: 78,061,309 (GRCm39) |
V379L |
probably benign |
Het |
| Numa1 |
T |
G |
7: 101,658,945 (GRCm39) |
L356R |
probably damaging |
Het |
| Pard6b |
C |
T |
2: 167,940,943 (GRCm39) |
A310V |
probably benign |
Het |
| Pcgf5 |
C |
A |
19: 36,414,740 (GRCm39) |
N26K |
possibly damaging |
Het |
| Phtf1 |
G |
A |
3: 103,910,919 (GRCm39) |
|
probably null |
Het |
| Plch1 |
C |
A |
3: 63,618,640 (GRCm39) |
D675Y |
probably damaging |
Het |
| Plk2 |
A |
G |
13: 110,532,871 (GRCm39) |
H144R |
probably damaging |
Het |
| Rax |
T |
A |
18: 66,068,152 (GRCm39) |
N318Y |
unknown |
Het |
| Slc9a5 |
A |
G |
8: 106,085,103 (GRCm39) |
N535D |
possibly damaging |
Het |
| Smarcd2 |
T |
A |
11: 106,157,731 (GRCm39) |
K138* |
probably null |
Het |
| Taar7e |
A |
T |
10: 23,913,932 (GRCm39) |
I141F |
probably damaging |
Het |
| Taar7f |
T |
A |
10: 23,925,921 (GRCm39) |
W172R |
probably damaging |
Het |
| Tango6 |
A |
G |
8: 107,415,856 (GRCm39) |
I226V |
probably benign |
Het |
| Tcn2 |
T |
C |
11: 3,872,114 (GRCm39) |
K338E |
possibly damaging |
Het |
| Tdp1 |
C |
A |
12: 99,864,588 (GRCm39) |
A243E |
probably damaging |
Het |
| Tfpt |
A |
G |
7: 3,623,386 (GRCm39) |
Y240H |
probably damaging |
Het |
| Tmod4 |
A |
G |
3: 95,035,140 (GRCm39) |
D215G |
probably benign |
Het |
| Top3b |
A |
G |
16: 16,700,396 (GRCm39) |
|
probably null |
Het |
| Urgcp |
C |
A |
11: 5,665,878 (GRCm39) |
G820V |
probably damaging |
Het |
| Zfand2b |
A |
T |
1: 75,146,454 (GRCm39) |
M110L |
probably benign |
Het |
| Zfyve1 |
A |
T |
12: 83,621,909 (GRCm39) |
V162E |
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 |
|
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 |
|
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'- ACAGTAAATCCTAACCTTGTCGTC -3'
(R):5'- AGCACGTGAGGTTCCATTACTTC -3'
Sequencing Primer
(F):5'- AGGTTCAGAGGCTCAGTCCATTATC -3'
(R):5'- GGCTGGAACTGGAGATCCTC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation