Ddx46 MGI Mouse Gene Detail - MGI:1920895

Symbol

Ddx46
Name

DEAD box helicase 46
Synonyms

2200005K02Rik, 8430438J23Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 46

Feature Type

protein coding gene
IDs

MGI:1920895
NCBI Gene: 212880
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr13:55782841-55829069 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 13, 30.06 cM, cytoband B2
Mapping Data

3 experiments

SNPs within 2kb

1329 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1920895	protein coding gene	Chr13:55782790-55829080 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0020607	protein coding gene	Chr13:55129585-55180287 (+)
A/J	MGP_AJ_G0020561	protein coding gene	Chr13:53095439-53141734 (+)
AKR/J	MGP_AKRJ_G0020539	protein coding gene	Chr13:54661622-54715174 (+)
BALB/cJ	MGP_BALBcJ_G0020557	protein coding gene	Chr13:53322256-53371058 (+)
C3H/HeJ	MGP_C3HHeJ_G0020356	protein coding gene	Chr13:54467718-54517987 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0020991	protein coding gene	Chr13:56789263-56837258 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0018573	protein coding gene	Chr13:51028382-51078941 (+)
CAST/EiJ	MGP_CASTEiJ_G0019870	protein coding gene	Chr13:54576368-54627098 (+)
CBA/J	MGP_CBAJ_G0020316	protein coding gene	Chr13:58974264-59033764 (+)
DBA/2J	MGP_DBA2J_G0020439	protein coding gene	Chr13:52641892-52689387 (+)
FVB/NJ	MGP_FVBNJ_G0020418	protein coding gene	Chr13:52113221-52159530 (+)
LP/J	MGP_LPJ_G0020515	protein coding gene	Chr13:55382863-55432376 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0020447	protein coding gene	Chr13:58430564-58480007 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0021034	protein coding gene	Chr13:54243305-54295472 (+)
PWK/PhJ	MGP_PWKPhJ_G0019626	protein coding gene	Chr13:52668172-52717486 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0019453	protein coding gene	Chr13:53159621-53207663 (+)
WSB/EiJ	MGP_WSBEiJ_G0019932	protein coding gene	Chr13:54604125-54657301 (+)

Human Ortholog

DDX46, DEAD-box helicase 46

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

DDX46, DEAD-box helicase 46
Synonyms

Prp5, PRPF5
Links

HGNC:18681

NCBI Gene ID: 9879

neXtProt AC: NX_Q7L014

UniProt: Q7L014
Chr Location

5q31.1; chr5:134758771-134855133 (+) GRCh38

MGI Vertebrate Homology

Ddx46 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: DDX46
Gene Tree

Ddx46

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Phenotype Summary

18 phenotypes from 2 alleles in 2 genetic backgrounds
1 images
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

4
Gene trapped

10
Genomic Mutations

1 involving Ddx46
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

46 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele show complete embryonic lethality by E7.5. In vitro, blastocysts hatch from the zona pellucida but form irregular outgrowths after 3 days in culture.

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All GO Annotations

24
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

709
Tissues

3
cDNA Data

17
Literature Summary

1

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ddx46

ZFIN ddx46

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All Sequences

59
RefSeq

6
UniProt

6
CCDS

CCDS70464.1

Ensembl

ENSMUSG00000021500 (Evidence)
NCBI Gene

212880

			Length	Strain/Species	Flank
genomic	ENSMUSG00000021500	Ensembl Gene Model \| MGI Sequence Detail	46229	C57BL/6J	± kb
transcript	ENSMUST00000223736	Ensembl \| MGI Sequence Detail	5612	Not Applicable
polypeptide	ENSMUSP00000153328	Ensembl \| MGI Sequence Detail	1032	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000030255 probable ATP-dependent RNA helicase DDX46

(term hierarchy)
EC

3.6.4.13
InterPro Domains

IPR000629 ATP-dependent RNA helicase DEAD-box, conserved site

IPR050079 DEAD box RNA helicase

IPR011545 DEAD/DEAH box helicase domain

IPR001650 Helicase, C-terminal domain-like

IPR014001 Helicase superfamily 1/2, ATP-binding domain

IPR027417 P-loop containing nucleoside triphosphate hydrolase

IPR014014 RNA helicase, DEAD-box type, Q motif

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All nucleic 17

cDNA 17

Microarray probesets 5

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MGI:1918802, MGI:2145213, MGI:2145315

Summaries

All 50

Developmental Gene Expression 1

Gene Ontology 9

Phenotypes 16
Earliest

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

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

TSS for Ddx46:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr119973	Chr13:55782815-55782849 (+)	-9 bp
Tssr119974	Chr13:55787678-55787705 (+)	4,851 bp
Tssr119975	Chr13:55793199-55793219 (+)	10,368 bp
Tssr119976	Chr13:55793234-55793245 (+)	10,399 bp
Tssr119977	Chr13:55795433-55795450 (+)	12,601 bp
Tssr119978	Chr13:55798257-55798299 (+)	15,437 bp
Tssr119979	Chr13:55800737-55800762 (+)	17,909 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 12/10/2024 MGI 6.24