Dok7 MGI Mouse Gene Detail - MGI:3584043

Symbol

Dok7
Name

docking protein 7
Synonyms

A930013K19Rik, Dok-7, EF-12, Oit5

Feature Type

protein coding gene
IDs

MGI:3584043
NCBI Gene: 231134
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr5:35214110-35245183 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 5, 18.00 cM
Mapping Data

2 experiments

SNPs within 2kb

882 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_3584043	protein coding gene	Chr5:35213922-35245183 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0029475	protein coding gene	Chr5:33317783-33348852 (+)
A/J	MGP_AJ_G0029442	protein coding gene	Chr5:32235145-32267129 (+)
AKR/J	MGP_AKRJ_G0029391	protein coding gene	Chr5:33466585-33499751 (+)
BALB/cJ	MGP_BALBcJ_G0029452	protein coding gene	Chr5:32757417-32788695 (+)
C3H/HeJ	MGP_C3HHeJ_G0029174	protein coding gene	Chr5:33493547-33525792 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0029906	protein coding gene	Chr5:35216853-35249976 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0027143	protein coding gene	Chr5:29994616-30027227 (+)
CAST/EiJ	MGP_CASTEiJ_G0028583	protein coding gene	Chr5:32567841-32598669 (+)
CBA/J	MGP_CBAJ_G0029142	protein coding gene	Chr5:36034635-36068149 (+)
DBA/2J	MGP_DBA2J_G0029290	protein coding gene	Chr5:32383248-32414482 (+)
FVB/NJ	MGP_FVBNJ_G0029249	protein coding gene	Chr5:31829794-31861861 (+)
LP/J	MGP_LPJ_G0029375	protein coding gene	Chr5:33737647-33769898 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0029279	protein coding gene	Chr5:36870308-36907496 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0029939	protein coding gene	Chr5:32970556-33002716 (+)
PWK/PhJ	MGP_PWKPhJ_G0028308	protein coding gene	Chr5:31541520-31572845 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0028139	protein coding gene	Chr5:32413489-32454564 (+)
WSB/EiJ	MGP_WSBEiJ_G0028664	protein coding gene	Chr5:33035220-33066121 (+)

Human Ortholog

DOK7, docking protein 7

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

DOK7, docking protein 7
Synonyms

C4orf25, CMS10, CMS1B, FADS3
Links

HGNC:26594

NCBI Gene ID: 285489

neXtProt AC: NX_Q18PE1

UniProt: Q18PE1
Chr Location

4p16.3; chr4:3463306-3501482 (+) GRCh38

MGI Vertebrate Homology

Dok7 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: DOK7
Gene Tree

Dok7

Diseases

1 with Dok7 mouse models; 2 with human DOK7 associations

Human Disease

Mouse Models

congenital myasthenic syndrome 10

IDs

View 1 model

fetal akinesia deformation sequence syndrome 3

IDs

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

Mutations/Alleles

1 with disease annotations

References

2 with disease annotations

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Phenotype Summary

14 phenotypes from 3 alleles in 3 genetic backgrounds
31 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

16
Chemically induced (ENU)

1
Chemically induced (other)

2
Endonuclease-mediated

4
Radiation induced

4
Spontaneous

1
Targeted

4
Genomic Mutations

8 involving Dok7
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

30 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous mutation of this gene results in death shortly after birth, impaired neuromuscular synaptogenesis and akinesia.

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All GO Annotations

28
GO References

10

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

730
Tissues

16
cDNA Data

13
Literature Summary

8

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

ZFIN dok7b

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All Sequences

60
RefSeq

14
UniProt

4
CCDS

CCDS19224.1, CCDS89911.1, CCDS89912.1

Ensembl

ENSMUSG00000044716 (Evidence)
NCBI Gene

231134

			Length	Strain/Species	Flank
genomic	ENSMUSG00000044716	Ensembl Gene Model \| MGI Sequence Detail	31074	C57BL/6J	± kb
transcript	ENSMUST00000050709	Ensembl \| MGI Sequence Detail	2498	Not Applicable
polypeptide	ENSMUSP00000059538	Ensembl \| MGI Sequence Detail	570	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000006634 protein Dok-7

(term hierarchy)
PDB

3ML4
InterPro Domains

IPR037747 Dok-7, PH domain

IPR037748 Dok-7, PTB domain

IPR002404 IRS-type PTB domain

IPR011993 PH-like domain superfamily

IPR001849 Pleckstrin homology domain

IPR037746 Protein Dok-7

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All nucleic 17

Genomic 2

cDNA 13

Primer pair 2

Microarray probesets 4

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MGI:1201798, MGI:2141134

Summaries

All 70

Developmental Gene Expression 8

Diseases 2

Gene Ontology 10

Phenotypes 31
Earliest

J:5021 Batchelor AL, et al., A comparison of the mutagenic effectiveness of chronic neutron- and gamma-irradiation of mouse spermatogonia. Mutat Res. 1966 Jun;3(3):218-29
Latest

J:353626 Ohkawara B, et al., Transcriptome profile of subsynaptic myonuclei at the neuromuscular junction in embryogenesis. J Neurochem. 2024 Apr;168(4):342-354

TSS for Dok7:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr45931	Chr5:35214194-35214239 (+)	107 bp
Tssr45932	Chr5:35214403-35214440 (+)	312 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