AU040320 MGI Mouse Gene Detail - MGI:2140475 - expressed sequence AU040320

Symbol

AU040320
Name

expressed sequence AU040320

Feature Type

protein coding gene
IDs

MGI:2140475
NCBI Gene: 100317
Alliance

genome feature page
Transcription Start Sites

9 TSS

Sequence Map

Chr4:126647331-126763487 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4, 60.94 cM
Mapping Data

2 experiments

SNPs within 2kb

2594 from dbSNP Build 142
Strain Annotations

19

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2140475	protein coding gene	Chr4:126647331-126763863 (+)
129S1/SvImJ	ENSMUSG00200014046	protein coding gene	Chr4:120086027-120202572 (+)
A/J	ENSMUSG00195026967	protein coding gene	Chr4:121422510-121539010 (+)
AKR/J	ENSMUSG00220019809	protein coding gene	Chr4:120401595-120518124 (+)
BALB/cJ	ENSMUSG00180042523	protein coding gene	Chr4:119060367-119176924 (+)
C3H/HeJ	ENSMUSG00175024929	protein coding gene	Chr4:120073070-120189624 (+)
C57BL/6NJ	ENSMUSG00215017197	protein coding gene	Chr4:121565143-121681675 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0026485	protein coding gene	Chr4:116532636-116649703 (+)
CAST/EiJ	ENSTCUG00005043552	protein coding gene	Chr4:120947340-121064820 (+)
CBA/J	ENSMUSG00210051714	protein coding gene	Chr4:119701983-119818540 (+)
DBA/2J	ENSMUSG00185042673	protein coding gene	Chr4:121234600-121351152 (+)
FVB/NJ	ENSMUSG00205014554	protein coding gene	Chr4:119446521-119563098 (+)
JF1/MsJ	ENSUMUG00000011490	protein coding gene	Chr4:121870602-121990351 (+)
LP/J	ENSMUSG00230038193	protein coding gene	Chr4:125023681-125140194 (+)
NOD/ShiLtJ	ENSMUSG00190028256	protein coding gene	Chr4:119446335-119562709 (+)
NZO/HlLtJ	ENSMUSG00225015195	protein coding gene	Chr4:130930382-131046880 (+)
PWK/PhJ	ENSLUMG00010040177	protein coding gene	Chr4:118907255-119026992 (+)
SPRET/EiJ	ENSMSPG00010033859	protein coding gene	Chr4:120974306-121092423 (+)
WSB/EiJ	ENSIUOG00005045455	protein coding gene	Chr4:119305831-119422017 (+)

Human Ortholog

KIAA0319L, KIAA0319 like

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

KIAA0319L, KIAA0319 like
Synonyms

AAVR, AAVRL
Links

HGNC:30071

NCBI Gene ID: 79932

UniProt: Q8IZA0
Chr Location

1p34.3; chr1:35393883-35557950 (-) GRCh38

MGI Vertebrate Homology

AU040320 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: KIAA0319L
Gene Tree

AU040320

less

Phenotype Summary

30 phenotypes from 4 alleles in 3 genetic backgrounds
26 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
Chemically induced (other)

2
Endonuclease-mediated

6
Gene trapped

3
Radiation induced

1
Targeted

7
Genomic Mutations

4 involving AU040320
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

59 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit male infertility associated with oligozoospermia, immotile sperm, coiled sperm tails with mitochondrial disorganization, impaired acrosome formation, and globozoospermia.

less

All GO Annotations

27
GO References

9

Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.

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.

less

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

707
Tissues

14
cDNA Data

21
Literature Summary

2

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

ZFIN kiaa0319l

less

All Sequences

109
RefSeq

20
UniProt

5
CCDS

CCDS18660.1, CCDS18661.1

Ensembl

ENSMUSG00000028830 (Evidence)
NCBI Gene

100317

			Length	Strain/Species	Flank
genomic	100317	NCBI Gene Model \| MGI Sequence Detail	116157	C57BL/6J	± kb
transcript	NM_001355196	RefSeq \| MGI Sequence Detail	4736	C57BL/6
polypeptide	Q8K135	UniProt \| EBI \| MGI Sequence Detail	1048	Not Applicable

less

UniProt

5 Sequences
Protein Ontology

PR:000060156 dyslexia-associated protein KIAA0319-like protein

(term hierarchy)
InterPro Domains

IPR029865 Dyslexia-associated protein KIAA0319-like

IPR013783 Immunoglobulin-like fold

IPR056502 KIAA0319-like, C-terminal domain

IPR013980 MANSC domain

IPR022409 PKD/Chitinase domain

IPR000601 PKD domain

IPR035986 PKD domain superfamily
GlyGen

Q8K135 10 sites, 13 N-linked glycans (8 sites), 1 O-linked glycan (1 site)

less

All nucleic 22

cDNA 22

Microarray probesets 4

less

MGI:2442743

Summaries

All 56

Developmental Gene Expression 2

Gene Ontology 9

Phenotypes 26
Earliest

J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
Latest

J:387339 Hinsch VG, et al., Interrogating the dependency of AAV capsids on AAVR for retinal transduction. Mol Ther Adv. 2026 Mar 12;34(1):201677

TSS for AU040320:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr39018	Chr4:126647581-126647628 (+)	274 bp
Tssr39019	Chr4:126647663-126647673 (+)	337 bp
Tssr39020	Chr4:126650341-126650373 (+)	3,026 bp
Tssr39021	Chr4:126650776-126650797 (+)	3,456 bp
Tssr39022	Chr4:126650799-126650806 (+)	3,472 bp
Tssr39023	Chr4:126658359-126658379 (+)	11,038 bp
Tssr1301	Chr4:126702377-126702381 (+)	55,048 bp
Tssr39024	Chr4:126724454-126724458 (+)	77,125 bp
Tssr39025	Chr4:126744186-126744197 (+)	96,861 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 09/08/2026 MGI 6.24