Incidental Mutation 'IGL02067:Clcc1'
ID 185691
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clcc1
Ensembl Gene ENSMUSG00000027884
Gene Name chloride channel CLIC-like 1
Synonyms Mclc
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02067
Quality Score
Status
Chromosome 3
Chromosomal Location 108561229-108586156 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 108576037 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 195 (L195H)
Ref Sequence ENSEMBL: ENSMUSP00000102220 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029483] [ENSMUST00000106609] [ENSMUST00000106613]
AlphaFold Q99LI2
Predicted Effect probably damaging
Transcript: ENSMUST00000029483
AA Change: L195H

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000029483
Gene: ENSMUSG00000027884
AA Change: L195H

DomainStartEndE-ValueType
Pfam:MCLC 3 539 2e-266 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106609
AA Change: L195H

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102220
Gene: ENSMUSG00000027884
AA Change: L195H

DomainStartEndE-ValueType
Pfam:MCLC 3 539 2e-266 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106613
AA Change: L200H

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102224
Gene: ENSMUSG00000027884
AA Change: L200H

DomainStartEndE-ValueType
Pfam:MCLC 8 544 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130352
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139016
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156811
Coding Region Coverage
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik C T 5: 107,691,816 (GRCm39) R36* probably null Het
Aplp2 T A 9: 31,062,191 (GRCm39) K688N probably damaging Het
Arhgef28 G T 13: 98,213,825 (GRCm39) Q13K probably damaging Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Chrna6 A G 8: 27,894,424 (GRCm39) S494P probably damaging Het
Coq3 A G 4: 21,900,397 (GRCm39) E208G probably benign Het
Dock4 T G 12: 40,884,384 (GRCm39) S1684A probably damaging Het
Duoxa2 G A 2: 122,131,072 (GRCm39) V78M possibly damaging Het
Entrep3 C T 3: 89,095,903 (GRCm39) R545* probably null Het
Fam8a1 G T 13: 46,823,324 (GRCm39) R88L possibly damaging Het
Ganc A G 2: 120,236,785 (GRCm39) D23G probably benign Het
Gm14305 A T 2: 176,411,110 (GRCm39) E53D probably damaging Het
Ing5 T A 1: 93,739,648 (GRCm39) L58Q probably damaging Het
Klrb1-ps1 A G 6: 129,106,351 (GRCm39) D164G probably damaging Het
Lama2 G A 10: 27,052,792 (GRCm39) T1389M probably benign Het
Lrp6 A T 6: 134,457,359 (GRCm39) I815K probably damaging Het
Nek10 A G 14: 14,861,639 (GRCm38) D565G probably benign Het
Opa1 A G 16: 29,435,473 (GRCm39) E641G probably damaging Het
Rbm44 T C 1: 91,080,567 (GRCm39) S252P probably damaging Het
Sbf1 A G 15: 89,173,247 (GRCm39) V1810A probably damaging Het
Sh3pxd2b T C 11: 32,373,095 (GRCm39) V754A probably benign Het
Slc27a6 A G 18: 58,745,263 (GRCm39) T566A probably benign Het
Stxbp6 C T 12: 44,908,081 (GRCm39) R179Q probably damaging Het
Supt6 T A 11: 78,121,983 (GRCm39) Y223F probably benign Het
Tdrd6 T C 17: 43,939,100 (GRCm39) I649M probably damaging Het
Tecrl A T 5: 83,432,122 (GRCm39) C258S probably benign Het
Zfp128 T C 7: 12,618,977 (GRCm39) I74T possibly damaging 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
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
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
Posted On 2014-05-07