Incidental Mutation 'IGL00690:Pcbd1'
ID 12922
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcbd1
Ensembl Gene ENSMUSG00000020098
Gene Name pterin 4 alpha carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 1
Synonyms Pcbd, Dcoh
Accession Numbers
Essential gene? Not available question?
Stock # IGL00690
Quality Score
Status
Chromosome 10
Chromosomal Location 60925110-60930103 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 60928469 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151542 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020298] [ENSMUST00000218005]
AlphaFold P61458
Predicted Effect probably benign
Transcript: ENSMUST00000020298
SMART Domains Protein: ENSMUSP00000020298
Gene: ENSMUSG00000020098

DomainStartEndE-ValueType
Pfam:Pterin_4a 6 99 9.5e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000218005
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the pterin-4-alpha-carbinolamine dehydratase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein functions as both a dehydratase involved in tetrahydrobiopterin biosynthesis, and as a cofactor for HNF1A-dependent transcription. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygous mutant mice display hyperphenylalaninemia, are mildly glucose intolerant, and are predisposed to cataract formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik T C 1: 120,078,336 (GRCm39) probably benign Het
Adcy8 A G 15: 64,571,151 (GRCm39) V1164A probably damaging Het
Arhgef9 C T X: 94,125,285 (GRCm39) C177Y probably damaging Het
Ascc3 C T 10: 50,576,039 (GRCm39) Q765* probably null Het
Brwd1 A G 16: 95,818,786 (GRCm39) Y1349H probably damaging Het
Cep57 A T 9: 13,730,312 (GRCm39) N48K probably damaging Het
Crlf3 A G 11: 79,950,163 (GRCm39) S156P probably damaging Het
Edn2 G A 4: 120,020,649 (GRCm39) R92H probably damaging Het
Eml2 T A 7: 18,940,068 (GRCm39) W647R probably damaging Het
Gcm1 A T 9: 77,972,298 (GRCm39) D413V probably benign Het
Med1 A C 11: 98,060,226 (GRCm39) D234E possibly damaging Het
Nfatc4 T C 14: 56,070,019 (GRCm39) F729S probably damaging Het
Pramel28 G T 4: 143,692,392 (GRCm39) P203Q possibly damaging Het
Serpina3c A T 12: 104,118,198 (GRCm39) L47M possibly damaging Het
Strn3 T C 12: 51,657,221 (GRCm39) I631V possibly damaging Het
Trp53bp1 A G 2: 121,066,476 (GRCm39) I750T probably damaging Het
Other mutations in Pcbd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00333:Pcbd1 APN 10 60,927,949 (GRCm39) missense probably benign
IGL00819:Pcbd1 APN 10 60,927,919 (GRCm39) missense probably benign 0.08
IGL02173:Pcbd1 APN 10 60,927,983 (GRCm39) intron probably benign
Posted On 2012-12-06