Mrpl12 MGI Mouse Gene Detail - MGI:1926273 - mitochondrial ribosomal protein L12

Symbol

Mrpl12
Name

mitochondrial ribosomal protein L12
Synonyms

0610034O11Rik, 1500031N16Rik, MRP-L12, Rpml12

Feature Type

protein coding gene
IDs

MGI:1926273
NCBI Gene: 56282
Alliance

gene page
Transcription Start Sites

4 TSS

Sequence Map

Chr11:120375463-120379580 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 84.18 cM, cytoband E2
Mapping Data

2 experiments

SNPs within 2kb

228 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1926273	protein coding gene	Chr11:120375439-120379891 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0019505	protein coding gene	Chr11:124953794-124958246 (+)
A/J	MGP_AJ_G0019473	protein coding gene	Chr11:119392953-119397405 (+)
AKR/J	MGP_AKRJ_G0019443	protein coding gene	Chr11:122985759-122990211 (+)
BALB/cJ	MGP_BALBcJ_G0019448	protein coding gene	Chr11:119748572-119753024 (+)
C3H/HeJ	MGP_C3HHeJ_G0019254	protein coding gene	Chr11:123321398-123325850 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0019896	protein coding gene	Chr11:128731259-128735711 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017522	protein coding gene	Chr11:116381102-116385367 (+)
CAST/EiJ	MGP_CASTEiJ_G0018808	protein coding gene	Chr11:124810715-124815204 (+)
CBA/J	MGP_CBAJ_G0019225	protein coding gene	Chr11:133771069-133775521 (+)
DBA/2J	MGP_DBA2J_G0019337	protein coding gene	Chr11:118761857-118766309 (+)
FVB/NJ	MGP_FVBNJ_G0019329	protein coding gene	Chr11:118472005-118476480 (+)
LP/J	MGP_LPJ_G0019409	protein coding gene	Chr11:125255220-125259672 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019362	protein coding gene	Chr11:132613074-132617526 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0019936	protein coding gene	Chr11:123671532-123675984 (+)
PWK/PhJ	MGP_PWKPhJ_G0018574	protein coding gene	Chr11:120195456-120199923 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0018366	protein coding gene	Chr11:123433041-123437702 (+)
WSB/EiJ	MGP_WSBEiJ_G0018860	protein coding gene	Chr11:123662936-123667413 (+)

Human Ortholog

MRPL12, mitochondrial ribosomal protein L12

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

MRPL12, mitochondrial ribosomal protein L12
Synonyms

5c5-2, bL12m, L12mt, MRP-L31/34, MRPL7, MRPL7/L12, RPML12
Links

HGNC:10378

NCBI Gene ID: 6182

neXtProt AC: NX_P52815

UniProt: P52815
Chr Location

17q25.3; chr17:81703367-81707517 (+) GRCh38

MGI Vertebrate Homology

Mrpl12 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: MRPL12
Gene Tree

Mrpl12

Diseases

1 with human MRPL12 associations

				Human Disease	Mouse Models
				combined oxidative phosphorylation deficiency 45 IDs combined oxidative phosphorylation deficiency 45 DOID:0112113 OMIM:618951

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

8 phenotypes from 2 alleles in 2 genetic backgrounds
14 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

33
Endonuclease-mediated

3
Gene trapped

27
Targeted

3
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

16 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele display embryonic lethality prior to organogenesis. Heterozygous null mice display enlarged lymph nodes and kidney abnormalities. Mice with conditional loss of expression display mitochondrial abnormalities.

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All GO Annotations

21
GO References

9

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

720
Tissues

13
cDNA Data

15
Literature Summary

1

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase mrpl12

ZFIN mrpl12

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All Sequences

46
RefSeq

2
UniProt

1
CCDS

CCDS25737.1

Ensembl

ENSMUSG00000039640 (Evidence)
NCBI Gene

56282

			Length	Strain/Species	Flank
genomic	56282	NCBI Gene Model \| MGI Sequence Detail	4118	C57BL/6J	± kb
transcript	NM_027204	RefSeq \| MGI Sequence Detail	998	C57BL/6
polypeptide	Q9DB15	UniProt \| EBI \| MGI Sequence Detail	201	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000010574 large ribosomal subunit protein bL12m

(term hierarchy)
InterPro Domains

IPR000206 Large ribosomal subunit protein bL12

IPR013823 Large ribosomal subunit protein bL12, C-terminal

IPR008932 Large ribosomal subunit protein bL12, oligomerization

IPR036235 Large ribosomal subunit protein bL12, oligomerization domain superfamily

IPR014719 Ribosomal protein bL12, C-terminal/adaptor protein ClpS-like

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All nucleic 16

cDNA 15

Primer pair 1

Microarray probesets 3

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MGI:1915632, MGI:1917008

Summaries

All 43

Developmental Gene Expression 1

Gene Ontology 9

Phenotypes 14
Earliest

J:64919 Graack HR, et al., Identification of mammalian mitochondrial ribosomal proteins (MRPs) by N-terminal sequencing of purified bovine MRPs and comparison to data bank sequences: the large subribosomal particle. Biochemistry. 1999 Dec 14;38(50):16569-77
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Mrpl12:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr106294	Chr11:120375461-120375472 (+)	4 bp
Tssr106295	Chr11:120375477-120375522 (+)	37 bp
Tssr106296	Chr11:120375858-120375875 (+)	404 bp
Tssr106297	Chr11:120376164-120376180 (+)	709 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)
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