2700049A03Rik MGI Mouse Gene Detail - MGI:1924217

Symbol

2700049A03Rik
Name

RIKEN cDNA 2700049A03 gene
Synonyms

Ta3, talpid3

Feature Type

protein coding gene
IDs

MGI:1924217
NCBI Gene: 76967
Alliance

gene page
Transcription Start Sites

4 TSS

Sequence Map

Chr12:71183622-71290077 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 12, 29.39 cM, cytoband C3
Mapping Data

3 experiments

SNPs within 2kb

2632 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1924217	protein coding gene	Chr12:71183622-71356273 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0019817	protein coding gene	Chr12:70916600-71018975 (+)
A/J	MGP_AJ_G0019775	protein coding gene	Chr12:68268458-68371811 (+)
AKR/J	MGP_AKRJ_G0019751	protein coding gene	Chr12:70330154-70430714 (+)
BALB/cJ	MGP_BALBcJ_G0019755	protein coding gene	Chr12:68741214-68845341 (+)
C3H/HeJ	MGP_C3HHeJ_G0019560	protein coding gene	Chr12:70797391-70898027 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0020207	protein coding gene	Chr12:73171000-73279534 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017827	protein coding gene	Chr12:65771148-65869581 (+)
CAST/EiJ	MGP_CASTEiJ_G0019112	protein coding gene	Chr12:65531815-65635512 (+)
CBA/J	MGP_CBAJ_G0019530	protein coding gene	Chr12:75909577-76018290 (+)
DBA/2J	MGP_DBA2J_G0019646	protein coding gene	Chr12:68177387-68281607 (+)
FVB/NJ	MGP_FVBNJ_G0019633	protein coding gene	Chr12:67058011-67157098 (+)
LP/J	MGP_LPJ_G0019718	protein coding gene	Chr12:70904096-71021517 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019672	protein coding gene	Chr12:79124216-79228445 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0020242	protein coding gene	Chr12:69804334-69906608 (+)
PWK/PhJ	MGP_PWKPhJ_G0018877	protein coding gene	Chr12:62452677-62558823 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0018672	protein coding gene	Chr12:64167713-64275355 (+)
WSB/EiJ	MGP_WSBEiJ_G0019163	protein coding gene	Chr12:70424211-70524474 (+)

Human Ortholog

KIAA0586, KIAA0586

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

KIAA0586, KIAA0586
Synonyms

JBTS23, SRTD14, Talpid3
Links

HGNC:19960

NCBI Gene ID: 9786

neXtProt AC: NX_Q9BVV6

UniProt: Q9BVV6
Chr Location

14q23.1; chr14:58427385-58562090 (+) GRCh38

MGI Vertebrate Homology

2700049A03Rik stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: KIAA0586
Gene Tree

2700049A03Rik

Diseases

2 with human KIAA0586 associations

				Human Disease	Mouse Models
				Joubert syndrome 23 IDs Joubert syndrome 23 DOID:0110992 OMIM:616490
				short-rib thoracic dysplasia 14 with polydactyly IDs short-rib thoracic dysplasia 14 with polydactyly DOID:0110096 ICD10CM:Q04.3 OMIM:616546

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

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Phenotype Summary

35 phenotypes from 3 alleles in 3 genetic backgrounds
16 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

15
Chemically induced (other)

1
Endonuclease-mediated

1
Gene trapped

8
Targeted

5
Genomic Mutations

1 involving 2700049A03Rik
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

107 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele die during organogenesis, lack cilia, and show randomized L-R patterning, face and neural tube defects, pericardial edema and hemorrhages. Mouse embryonic fibroblasts homozygous for a different null allele lack cilia and asymmetrical centriolar localization.

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All GO Annotations

21
GO References

8

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

708
Tissues

1
cDNA Data

77
Literature Summary

4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

ZFIN si:ch211-185a18.2

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All Sequences

58
RefSeq

14
UniProt

6
CCDS

CCDS49081.1, CCDS49082.1

Ensembl

ENSMUSG00000034601 (Evidence)
NCBI Gene

76967

			Length	Strain/Species	Flank
genomic	ENSMUSG00000034601	Ensembl Gene Model \| MGI Sequence Detail	106456	C57BL/6J	± kb
transcript	ENSMUST00000149564	Ensembl \| MGI Sequence Detail	5763	Not Applicable
polypeptide	ENSMUSP00000118956	Ensembl \| MGI Sequence Detail	1520	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000060056 protein TALPID3

(term hierarchy)
InterPro Domains

IPR029246 Protein TALPID3

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All nucleic 77

cDNA 77

Microarray probesets 4

Summaries

All 44

Developmental Gene Expression 4

Gene Ontology 8

Phenotypes 16
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:342332 Martinez-Heredia V, et al., Absence of the primary cilia formation gene Talpid3 impairs muscle stem cell function. Commun Biol. 2023 Nov 4;6(1):1121

TSS for 2700049A03Rik:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr113722	Chr12:71183931-71183934 (+)	311 bp
Tssr113723	Chr12:71183944-71183995 (+)	348 bp
Tssr113724	Chr12:71183999-71184016 (+)	386 bp
Tssr113725	Chr12:71184367-71184375 (+)	749 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 11/05/2024 MGI 6.24