Slc25a48 MGI Mouse Gene Detail - MGI:2145373 - solute carrier family 25, member 48

Symbol

Slc25a48
Name

solute carrier family 25, member 48

Feature Type

protein coding gene
IDs

MGI:2145373
NCBI Gene: 328258
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr13:56585774-56620180 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 13, 30.06 cM
Mapping Data

1 experiment

SNPs within 2kb

1265 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2145373	protein coding gene	Chr13:56585774-56622052 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0020618	protein coding gene	Chr13:55990111-56025800 (+)
A/J	MGP_AJ_G0020572	protein coding gene	Chr13:53908537-53943494 (+)
AKR/J	MGP_AKRJ_G0020550	protein coding gene	Chr13:55505914-55541684 (+)
BALB/cJ	MGP_BALBcJ_G0020568	protein coding gene	Chr13:54140742-54176992 (+)
C3H/HeJ	MGP_C3HHeJ_G0020367	protein coding gene	Chr13:55312339-55345314 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0021002	protein coding gene	Chr13:57681172-57719320 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0018584	protein coding gene	Chr13:51842918-51881369 (+)
CAST/EiJ	MGP_CASTEiJ_G0019881	protein coding gene	Chr13:55434897-55472101 (+)
CBA/J	MGP_CBAJ_G0020327	protein coding gene	Chr13:59892043-59935416 (+)
DBA/2J	MGP_DBA2J_G0020450	protein coding gene	Chr13:53453902-53490024 (+)
FVB/NJ	MGP_FVBNJ_G0020429	protein coding gene	Chr13:52926305-52962712 (+)
LP/J	MGP_LPJ_G0020526	protein coding gene	Chr13:56244293-56283735 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0020458	protein coding gene	Chr13:59297962-59337688 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0021045	protein coding gene	Chr13:55092906-55128664 (+)
PWK/PhJ	MGP_PWKPhJ_G0019637	protein coding gene	Chr13:53470461-53525192 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0019464	protein coding gene	Chr13:54036106-54077023 (+)
WSB/EiJ	MGP_WSBEiJ_G0019943	protein coding gene	Chr13:55459823-55495578 (+)

Human Ortholog

SLC25A48, solute carrier family 25 member 48

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SLC25A48, solute carrier family 25 member 48
Links

HGNC:30451

NCBI Gene ID: 153328

neXtProt AC: NX_Q6ZT89

UniProt: Q6ZT89
Chr Location

5q31.1; chr5:135476913-135889770 (+) GRCh38

MGI Vertebrate Homology

Slc25a48 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: SLC25A48
Gene Tree

Slc25a48

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Phenotype Summary

15 phenotypes from 1 allele in 1 genetic background
11 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

8
Chemically induced (other)

1
Endonuclease-mediated

5
Targeted

2
Genomic Mutations

1 involving Slc25a48
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

21 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele show impaired cold tolerance and brown adipose tissue (BAT) thermogenesis, altered mitochondrial ultrastructure and membrane lipid species, attenuated respiratory capacity, increased oxidative stress and hydrogen peroxide production in BAT-derived mitochondria, increased serum levels of choline, and reduced serum levels of choline-derived metabolites.

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All GO Annotations

4
GO References

3

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

706
cDNA Data

6

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase slc25a48

ZFIN slc25a48

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All Sequences

37
RefSeq

8
UniProt

1
CCDS

CCDS26561.1

Ensembl

ENSMUSG00000021509 (Evidence)
NCBI Gene

328258

			Length	Strain/Species	Flank
genomic	328258	NCBI Gene Model \| MGI Sequence Detail	34407	C57BL/6J	± kb
transcript	NM_177809	RefSeq \| MGI Sequence Detail	1498	C57BL/6
polypeptide	Q8BW66	UniProt \| EBI \| MGI Sequence Detail	306	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000030532 solute carrier family 25 member 48

(term hierarchy)
InterPro Domains

IPR050567 Mitochondrial Carrier

IPR023395 Mitochondrial carrier domain superfamily

IPR018108 Mitochondrial substrate/solute carrier

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All nucleic 6

cDNA 6

Microarray probesets 3

Summaries

All 30

Gene Ontology 3

Phenotypes 11
Earliest

J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
Latest

J:353858 Verkerke ARP, et al., SLC25A48 controls mitochondrial choline import and metabolism. Cell Metab. 2024 Aug 1;

TSS for Slc25a48:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr120014	Chr13:56586115-56586137 (+)	352 bp
Tssr120015	Chr13:56586156-56586182 (+)	395 bp
Tssr120016	Chr13:56586194-56586206 (+)	426 bp
Tssr120017	Chr13:56586728-56586730 (+)	955 bp
Tssr120018	Chr13:56589284-56589288 (+)	3,512 bp

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/19/2024 MGI 6.24