Avil MGI Mouse Gene Detail - MGI:1333798

Symbol

Avil
Name

advillin
Synonyms

DOC6

Feature Type

protein coding gene
IDs

MGI:1333798
NCBI Gene: 11567
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr10:126836578-126856863 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 74.48 cM, cytoband D3
Mapping Data

1 experiment

SNPs within 2kb

243 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1333798	protein coding gene	Chr10:126835933-126856863 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0017798	protein coding gene	Chr10:130572528-130594341 (+)
A/J	MGP_AJ_G0017773	protein coding gene	Chr10:125344937-125365004 (+)
AKR/J	MGP_AKRJ_G0017736	protein coding gene	Chr10:129055729-129075889 (+)
BALB/cJ	MGP_BALBcJ_G0017737	protein coding gene	Chr10:125752189-125772314 (+)
C3H/HeJ	MGP_C3HHeJ_G0017561	protein coding gene	Chr10:129184993-129208598 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0018192	protein coding gene	Chr10:134999175-135021584 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015872	protein coding gene	Chr10:119368712-119388486 (+)
CAST/EiJ	MGP_CASTEiJ_G0017121	protein coding gene	Chr10:129834776-129860041 (+)
CBA/J	MGP_CBAJ_G0017530	protein coding gene	Chr10:140416912-140438579 (+)
DBA/2J	MGP_DBA2J_G0017636	protein coding gene	Chr10:124432040-124452404 (+)
FVB/NJ	MGP_FVBNJ_G0017631	protein coding gene	Chr10:123380102-123403736 (+)
LP/J	MGP_LPJ_G0017710	protein coding gene	Chr10:131143254-131164300 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017659	protein coding gene	Chr10:143156202-143177167 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018232	protein coding gene	Chr10:129111419-129132886 (+)
PWK/PhJ	MGP_PWKPhJ_G0016906	protein coding gene	Chr10:124620948-124642110 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0016698	protein coding gene	Chr10:128135639-128156954 (+)
WSB/EiJ	MGP_WSBEiJ_G0017182	protein coding gene	Chr10:129330436-129354694 (+)

Human Ortholog

AVIL, advillin

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

AVIL, advillin
Synonyms

ADVIL, DOC6, NPHS21, p92
Links

HGNC:14188

NCBI Gene ID: 10677

neXtProt AC: NX_O75366

UniProt: O75366
Chr Location

12q14.1; chr12:57797376-57818734 (-) GRCh38

MGI Vertebrate Homology

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

vertebrate homology predictions: AVIL
Gene Tree

Avil

Diseases

1 with human AVIL associations

				Human Disease	Mouse Models
				nephrotic syndrome type 21 IDs nephrotic syndrome type 21 DOID:0112267 OMIM:618594

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

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Phenotype Summary

10 phenotypes from 2 alleles in 2 genetic backgrounds
23 phenotypes from multigenic genotypes
114 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

13
Endonuclease-mediated

2
Gene trapped

1
Targeted

10
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

46 strains or lines available
Comparison Matrix

Gene Expression + Phenotype
Recombinase Activity

Comparison Matrix Gene Expression + Recombinase Activity

Homozygotes null mice show partial embryonic lethality before E10.5, but surviving mice are fertile and exhibit no abnormal behavior into adult. The regenerative axon growth and remodeling of sensory nerves are abnormal in homozygous null mice.

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All GO Annotations

37
GO References

6

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	non-membrane-bounded 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

871
Tissues

78
cDNA Data

20
Literature Summary

8

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

Xenbase avil

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All Sequences

63
RefSeq

17
UniProt

7
CCDS

CCDS24221.1

Ensembl

ENSMUSG00000025432 (Evidence)
NCBI Gene

11567

			Length	Strain/Species	Flank
genomic	ENSMUSG00000025432	Ensembl Gene Model \| MGI Sequence Detail	20286	C57BL/6J	± kb
transcript	ENSMUST00000026500	Ensembl \| MGI Sequence Detail	3033	Not Applicable
polypeptide	ENSMUSP00000026500	Ensembl \| MGI Sequence Detail	819	Not Applicable

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UniProt

7 Sequences
Protein Ontology

PR:000004521 advillin

(term hierarchy)
InterPro Domains

IPR029006 ADF-H/Gelsolin-like domain superfamily

IPR007123 Gelsolin-like domain

IPR036180 Gelsolin-like domain superfamily

IPR007122 Villin/Gelsolin

IPR003128 Villin headpiece

IPR036886 Villin headpiece domain superfamily

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All nucleic 22

cDNA 20

Primer pair 2

Microarray probesets 3

Summaries

All 148

Developmental Gene Expression 8

Gene Ontology 6

Phenotypes 114
Earliest

J:50817 Wang XZ, et al., Identification of novel stress-induced genes downstream of chop. EMBO J. 1998 Jul 1;17(13):3619-30
Latest

J:345075 Wang XW, et al., Histone methyltransferase Ezh2 coordinates mammalian axon regeneration via regulation of key regenerative pathways. J Clin Invest. 2024 Feb 1;134(3)

TSS for Avil:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr96104	Chr10:126834806-126834821 (+)	-1,764 bp
Tssr96105	Chr10:126836601-126836616 (+)	31 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 04/16/2024 MGI 6.23