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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

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
Meta Mutation Damage Score 0.0898 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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