Incidental Mutation 'R1151:Clcc1'
ID 101600
Institutional Source Beutler Lab
Gene Symbol Clcc1
Ensembl Gene ENSMUSG00000027884
Gene Name chloride channel CLIC-like 1
Synonyms Mclc
MMRRC Submission 039224-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1151 (G1)
Quality Score 108
Status Not validated
Chromosome 3
Chromosomal Location 108561229-108586156 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 108575359 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 145 (F145L)
Ref Sequence ENSEMBL: ENSMUSP00000102224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029483] [ENSMUST00000106609] [ENSMUST00000106613] [ENSMUST00000124384]
AlphaFold Q99LI2
Predicted Effect probably damaging
Transcript: ENSMUST00000029483
AA Change: F140L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029483
Gene: ENSMUSG00000027884
AA Change: F140L

DomainStartEndE-ValueType
Pfam:MCLC 3 539 2e-266 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106609
AA Change: F140L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102220
Gene: ENSMUSG00000027884
AA Change: F140L

DomainStartEndE-ValueType
Pfam:MCLC 3 539 2e-266 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106613
AA Change: F145L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102224
Gene: ENSMUSG00000027884
AA Change: F145L

DomainStartEndE-ValueType
Pfam:MCLC 8 544 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124384
SMART Domains Protein: ENSMUSP00000118529
Gene: ENSMUSG00000027884

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.5%
  • 10x: 96.0%
  • 20x: 91.0%
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: 6 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik GCC GC 13: 59,839,412 (GRCm39) probably null Het
Arhgap28 C A 17: 68,164,459 (GRCm39) Q554H probably damaging Het
F5 G C 1: 164,026,486 (GRCm39) R1686P probably damaging Het
Prps1 T G X: 139,369,656 (GRCm39) S160A probably benign Het
Triobp G A 15: 78,850,679 (GRCm39) A278T probably benign Het
Zc3h6 C T 2: 128,859,056 (GRCm39) P1029L probably benign Het
Other mutations in Clcc1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers
Posted On 2014-01-15