Myof MGI Mouse Gene Detail - MGI:1919192

Symbol

Myof
Name

myoferlin
Synonyms

2310051D19Rik, E030042N20Rik, Fer1l3

Feature Type

protein coding gene
IDs

MGI:1919192
NCBI Gene: 226101
Alliance

gene page
Transcription Start Sites

20 TSS

Sequence Map

Chr19:37887484-38032025 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 19, 32.53 cM
Mapping Data

2 experiments

SNPs within 2kb

4695 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1919192	protein coding gene	Chr19:37887484-38032025 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0025085	protein coding gene	Chr19:36903236-37056691 (-)
A/J	MGP_AJ_G0025061	protein coding gene	Chr19:35115798-35261453 (-)
AKR/J	MGP_AKRJ_G0025029	protein coding gene	Chr19:36313171-36463200 (-)
BALB/cJ	MGP_BALBcJ_G0025059	protein coding gene	Chr19:35203932-35369744 (-)
C3H/HeJ	MGP_C3HHeJ_G0024818	protein coding gene	Chr19:36380356-36532473 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0025500	protein coding gene	Chr19:37972458-38123470 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022919	protein coding gene	Chr19:34471632-34619005 (-)
CAST/EiJ	MGP_CASTEiJ_G0024285	protein coding gene	Chr19:36246451-36398220 (-)
CBA/J	MGP_CBAJ_G0024795	protein coding gene	Chr19:39738204-39904048 (-)
DBA/2J	MGP_DBA2J_G0024927	protein coding gene	Chr19:34970415-35114592 (-)
FVB/NJ	MGP_FVBNJ_G0024888	protein coding gene	Chr19:34778897-34922591 (-)
LP/J	MGP_LPJ_G0025013	protein coding gene	Chr19:37002645-37155576 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024919	protein coding gene	Chr19:39531493-39683011 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025558	protein coding gene	Chr19:36403228-36556543 (-)
PWK/PhJ	MGP_PWKPhJ_G0024037	protein coding gene	Chr19:34829420-34979071 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0023837	protein coding gene	Chr19:35244089-35395360 (-)
WSB/EiJ	MGP_WSBEiJ_G0024352	protein coding gene	Chr19:36493501-36640099 (-)

Human Ortholog

MYOF, myoferlin

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

MYOF, myoferlin
Synonyms

FER1L3, HAE7
Links

HGNC:3656

NCBI Gene ID: 26509

neXtProt AC: NX_Q9NZM1

UniProt: Q9NZM1
Chr Location

10q23.33; chr10:93306429-93482334 (-) GRCh38

MGI Vertebrate Homology

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

vertebrate homology predictions: MYOF
Gene Tree

Myof

Diseases

1 with human MYOF associations

				Human Disease	Mouse Models
				hereditary angioedema IDs hereditary angioedema DOID:14735 MESH:D054179 NCI:C84758 OMIM:PS106100 ORDO:91378 UMLS_CUI:C0019243

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

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Phenotype Summary

7 phenotypes from 2 alleles in 3 genetic backgrounds
3 phenotypes from multigenic genotypes
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

19
Endonuclease-mediated

2
Gene trapped

12
Targeted

5
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

101 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit decreased body size, impaired myogenesis, lack of large diameter myofibers, abnormal skeletal muscle regeneration after injury, and decreased vascular permeability.

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All GO Annotations

21
GO References

7

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

741
Tissues

10
cDNA Data

107
Literature Summary

4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase myof

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All Sequences

75
RefSeq

8
UniProt

7
CCDS

CCDS37970.1, CCDS89386.1

Ensembl

ENSMUSG00000048612 (Evidence)
NCBI Gene

226101

			Length	Strain/Species	Flank
genomic	226101	NCBI Gene Model \| MGI Sequence Detail	144542	C57BL/6J	± kb
transcript	NM_001302140	RefSeq \| MGI Sequence Detail	7133	C57BL/6
polypeptide	Q69ZN7	UniProt \| EBI \| MGI Sequence Detail	2048	Not Applicable

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UniProt

7 Sequences
Protein Ontology

PR:000010876 myoferlin

(term hierarchy)
InterPro Domains

IPR000008 C2 domain

IPR035892 C2 domain superfamily

IPR012968 FerIin domain

IPR012560 Ferlin A-domain

IPR012561 Ferlin B-domain

IPR032362 Ferlin, C-terminal domain

IPR037721 Ferlin family

IPR037724 Ferlin, fifth C2 domain

IPR037726 Ferlin, first C2 domain

IPR037723 Ferlin, fourth C2 domain

IPR037720 Ferlin, second C2 domain

IPR037725 Ferlin, sixth C2 domain

IPR037722 Ferlin, third C2 domain

IPR006614 Peroxin/Ferlin domain
GlyGen

Q69ZN7 1 site, 1 O-linked glycan (1 site)

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All nucleic 109

cDNA 108

Primer pair 1

Microarray probesets 6

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MGI:2442992

Summaries

All 45

Developmental Gene Expression 4

Gene Ontology 7

Phenotypes 14
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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Myof:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr159110	Chr19:38032208-38032249 (-)	-204 bp
Tssr159109	Chr19:38032083-38032094 (-)	-64 bp
Tssr159108	Chr19:38032007-38032048 (-)	-3 bp
Tssr159107	Chr19:38031833-38031866 (-)	175 bp
Tssr159106	Chr19:38031772-38031832 (-)	223 bp
Tssr5496	Chr19:38029136-38029167 (-)	2,873 bp
Tssr159105	Chr19:38021360-38021366 (-)	10,662 bp
Tssr159104	Chr19:38019095-38019099 (-)	12,928 bp
Tssr159103	Chr19:38014265-38014278 (-)	17,753 bp
Tssr159102	Chr19:38012778-38012794 (-)	19,239 bp
Tssr159101	Chr19:38011240-38011261 (-)	20,774 bp
Tssr159100	Chr19:38011212-38011225 (-)	20,806 bp
Tssr159099	Chr19:38011182-38011200 (-)	20,834 bp
Tssr159098	Chr19:38011062-38011075 (-)	20,956 bp
Tssr159097	Chr19:37978144-37978175 (-)	53,865 bp
Tssr159096	Chr19:37977982-37977993 (-)	54,037 bp
Tssr159095	Chr19:37948207-37948225 (-)	83,809 bp
Tssr159094	Chr19:37945849-37945873 (-)	86,164 bp
Tssr159093	Chr19:37944358-37944389 (-)	87,651 bp
Tssr159092	Chr19:37919424-37919438 (-)	112,594 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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