Incidental Mutation 'IGL03191:Cltb'
ID 412661
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cltb
Ensembl Gene ENSMUSG00000047547
Gene Name clathrin light chain B
Synonyms 2310046E19Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # IGL03191
Quality Score
Status
Chromosome 13
Chromosomal Location 54740214-54759157 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54746883 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 31 (E31G)
Ref Sequence ENSEMBL: ENSMUSP00000122336 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049575] [ENSMUST00000091609] [ENSMUST00000140142]
AlphaFold Q6IRU5
Predicted Effect possibly damaging
Transcript: ENSMUST00000049575
AA Change: E109G

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000053371
Gene: ENSMUSG00000047547
AA Change: E109G

DomainStartEndE-ValueType
Pfam:Clathrin_lg_ch 1 228 2.9e-54 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000091609
AA Change: E109G

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000089198
Gene: ENSMUSG00000047547
AA Change: E109G

DomainStartEndE-ValueType
Pfam:Clathrin_lg_ch 1 210 8.7e-70 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000140142
AA Change: E31G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122336
Gene: ENSMUSG00000047547
AA Change: E31G

DomainStartEndE-ValueType
Pfam:Clathrin_lg_ch 1 95 2.1e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146301
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Clathrin is a large, soluble protein composed of heavy and light chains. It functions as the main structural component of the lattice-type cytoplasmic face of coated pits and vesicles which entrap specific macromolecules during receptor-mediated endocytosis. This gene encodes one of two clathrin light chain proteins which are believed to function as regulatory elements. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 A G 1: 58,398,228 (GRCm39) D1323G probably null Het
Asxl2 A G 12: 3,550,094 (GRCm39) D612G probably damaging Het
Cacna1c A T 6: 118,718,864 (GRCm39) F395L probably damaging Het
Cct8 A G 16: 87,283,198 (GRCm39) S380P probably damaging Het
Cobl T C 11: 12,203,364 (GRCm39) M1031V probably benign Het
Colgalt1 C A 8: 72,075,731 (GRCm39) probably null Het
Dcstamp A G 15: 39,617,620 (GRCm39) I10V probably benign Het
Diaph3 T C 14: 87,310,738 (GRCm39) I138V possibly damaging Het
Dnah8 T C 17: 30,945,804 (GRCm39) V1827A probably damaging Het
Dpf1 T A 7: 29,015,986 (GRCm39) probably benign Het
Dscam A T 16: 96,621,969 (GRCm39) L494Q probably benign Het
Eif2ak4 C T 2: 118,252,693 (GRCm39) H422Y probably damaging Het
Galnt10 T C 11: 57,662,326 (GRCm39) V324A probably damaging Het
Hcfc1 T C X: 72,999,220 (GRCm39) I309V probably benign Het
Il24 T C 1: 130,812,584 (GRCm39) T96A probably benign Het
Itga2 T C 13: 114,973,020 (GRCm39) probably benign Het
Lrrc32 A G 7: 98,147,454 (GRCm39) H78R possibly damaging Het
Lrrk1 T C 7: 65,909,707 (GRCm39) E2001G probably damaging Het
Lztr1 T A 16: 17,336,392 (GRCm39) M199K probably damaging Het
Mcm8 A G 2: 132,663,362 (GRCm39) Y160C possibly damaging Het
Msh4 G A 3: 153,575,245 (GRCm39) T710M probably damaging Het
Pate8 T C 9: 36,492,698 (GRCm39) D69G probably benign Het
Pilrb1 A T 5: 137,853,227 (GRCm39) L192Q probably damaging Het
Pim1 T A 17: 29,712,693 (GRCm39) probably benign Het
Slc12a1 A T 2: 125,048,009 (GRCm39) Q817L possibly damaging Het
Trip11 T C 12: 101,865,184 (GRCm39) D163G probably damaging Het
Tsc2 A T 17: 24,847,028 (GRCm39) V179E probably damaging Het
Zfp641 C T 15: 98,186,568 (GRCm39) V352M probably damaging Het
Other mutations in Cltb
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2240:Cltb UTSW 13 54,746,967 (GRCm39) missense possibly damaging 0.82
R2307:Cltb UTSW 13 54,746,564 (GRCm39) missense probably damaging 0.99
R4573:Cltb UTSW 13 54,746,574 (GRCm39) missense probably damaging 1.00
R4574:Cltb UTSW 13 54,746,574 (GRCm39) missense probably damaging 1.00
R4855:Cltb UTSW 13 54,746,908 (GRCm39) missense probably damaging 1.00
R5187:Cltb UTSW 13 54,741,693 (GRCm39) missense probably benign 0.05
R6016:Cltb UTSW 13 54,754,480 (GRCm39) missense possibly damaging 0.55
R8138:Cltb UTSW 13 54,746,596 (GRCm39) missense possibly damaging 0.95
Posted On 2016-08-02