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Slc13a5M1Btlr
Chemically induced Allele Detail
Summary
Symbol: Slc13a5M1Btlr
Name: solute carrier family 13 (sodium-dependent citrate transporter), member 5; mutation 1, Bruce Beutler
MGI ID: MGI:6114744
Synonyms: Punk
Gene: Slc13a5  Location: Chr11:72132815-72158048 bp, - strand  Genetic Position: Chr11, 43.95 cM
Alliance: Slc13a5M1Btlr page
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Mutation
description
Allele Type:    Chemically induced (ENU) (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsENU-induced T to C transition at base pair 72,262,076 (v38) on chromosome 11, or base pair 4,957 in the GenBank genomic region NC_000077. The mutation corresponds to residue 217 in the mRNA sequence NM_001004148 within exon 2 of 12 total exons. The mutation results in a serine (S) to proline (P) substitution at position 60 (S60P) in the protein. (J:255297)
Inheritance:    Semidominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Slc13a5 Mutation:  37 strains or lines available
References
Original:  J:255297 Chen Z, et al., Mutagenetix entry for Punk. MGI Direct Data Submission. 2018;
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory