Incidental Mutation 'IGL01464:Calb1'
ID 88074
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Calb1
Ensembl Gene ENSMUSG00000028222
Gene Name calbindin 1
Synonyms Brain-2, calbindin-D (28k), CB, CalbindinD28K, calbindin, Calb, Calb-1
Accession Numbers
Essential gene? Possibly essential (E-score: 0.502) question?
Stock # IGL01464
Quality Score
Status
Chromosome 4
Chromosomal Location 15881264-15906709 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 15881485 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000029876 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029876]
AlphaFold P12658
Predicted Effect probably benign
Transcript: ENSMUST00000029876
SMART Domains Protein: ENSMUSP00000029876
Gene: ENSMUSG00000028222

DomainStartEndE-ValueType
EFh 15 43 2.37e-3 SMART
EFh 102 130 4.32e-6 SMART
EFh 146 174 2.87e0 SMART
EFh 190 218 2.7e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136266
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141336
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the calcium-binding protein superfamily that includes calmodulin and troponin C. Originally described as a 27 kDa protein, it is now known to be a 28 kDa protein. It contains four active calcium-binding domains, and has two modified domains that are thought to have lost their calcium binding capability. This protein is thought to buffer entry of calcium upon stimulation of glutamate receptors. Depletion of this protein was noted in patients with Huntington disease. [provided by RefSeq, Jan 2015]
PHENOTYPE: Homozygous targeted mutants show severely impairment in motor coordination and Purkinje cells in the cerebellum show changes of synaptically evoked postsynaptic calcium transients. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 C A 1: 165,374,156 (GRCm39) H748Q probably damaging Het
Aebp1 T C 11: 5,819,822 (GRCm39) V329A possibly damaging Het
Ankk1 T C 9: 49,327,272 (GRCm39) T636A probably benign Het
Apoh A T 11: 108,286,716 (GRCm39) I47F probably damaging Het
Atg9a A G 1: 75,167,010 (GRCm39) S14P probably damaging Het
Ccdc121rt3 A G 5: 112,503,399 (GRCm39) S102P possibly damaging Het
Cd86 T C 16: 36,441,315 (GRCm39) S51G probably benign Het
Ctsll3 C T 13: 60,948,134 (GRCm39) G181D probably damaging Het
Elmod2 G A 8: 84,043,421 (GRCm39) probably benign Het
Ephx3 A G 17: 32,407,219 (GRCm39) S240P probably damaging Het
Greb1 T C 12: 16,764,827 (GRCm39) I435M probably damaging Het
Itpr1 A G 6: 108,363,688 (GRCm39) D770G possibly damaging Het
Kmt2c G A 5: 25,557,242 (GRCm39) T1155I possibly damaging Het
Lrp2 T C 2: 69,302,783 (GRCm39) D2982G probably damaging Het
Map1b C T 13: 99,569,251 (GRCm39) V1157I unknown Het
Nlrp4c T C 7: 6,103,783 (GRCm39) C906R possibly damaging Het
Nlrp9b T A 7: 19,796,580 (GRCm39) N976K probably benign Het
Nos1 T C 5: 118,081,257 (GRCm39) F1153S probably damaging Het
Pnrc1 T C 4: 33,246,395 (GRCm39) Y188C probably benign Het
Polr3a A C 14: 24,520,749 (GRCm39) probably benign Het
Rgs22 T C 15: 36,083,787 (GRCm39) T512A possibly damaging Het
Rhbdf2 C T 11: 116,491,734 (GRCm39) G574S probably benign Het
Rnf123 T C 9: 107,929,501 (GRCm39) D1217G probably damaging Het
Slc19a2 T C 1: 164,088,430 (GRCm39) S92P probably damaging Het
Sycp2 A T 2: 178,043,425 (GRCm39) I139N probably damaging Het
Vmn2r91 A G 17: 18,327,864 (GRCm39) N486S probably null Het
Xpo1 T A 11: 23,217,703 (GRCm39) H56Q probably damaging Het
Zbtb44 T A 9: 30,965,580 (GRCm39) L330H probably damaging Het
Other mutations in Calb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02900:Calb1 APN 4 15,895,695 (GRCm39) splice site probably benign
PIT4531001:Calb1 UTSW 4 15,900,925 (GRCm39) missense probably damaging 1.00
R0736:Calb1 UTSW 4 15,898,917 (GRCm39) missense probably benign 0.43
R1553:Calb1 UTSW 4 15,895,656 (GRCm39) missense probably damaging 1.00
R2926:Calb1 UTSW 4 15,904,302 (GRCm39) missense probably damaging 1.00
R4623:Calb1 UTSW 4 15,895,721 (GRCm39) intron probably benign
R5463:Calb1 UTSW 4 15,885,656 (GRCm39) missense probably benign
R5586:Calb1 UTSW 4 15,900,811 (GRCm39) missense probably benign 0.00
R6630:Calb1 UTSW 4 15,885,637 (GRCm39) missense probably benign
R8105:Calb1 UTSW 4 15,900,767 (GRCm39) critical splice acceptor site probably null
R8254:Calb1 UTSW 4 15,898,926 (GRCm39) missense probably benign
R9480:Calb1 UTSW 4 15,885,608 (GRCm39) missense probably benign
Posted On 2013-11-18