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

gene 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

483 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2140475	protein coding gene	Chr4:126647331-126763863 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0028788	protein coding gene	Chr4:128465423-128584522 (+)
A/J	MGP_AJ_G0028747	protein coding gene	Chr4:123402760-123520350 (+)
AKR/J	MGP_AKRJ_G0028700	protein coding gene	Chr4:126789116-126908401 (+)
BALB/cJ	MGP_BALBcJ_G0028770	protein coding gene	Chr4:123975189-124091506 (+)
C3H/HeJ	MGP_C3HHeJ_G0028484	protein coding gene	Chr4:126865419-126984315 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0029212	protein coding gene	Chr4:133352580-133467965 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0026485	protein coding gene	Chr4:116532636-116649703 (+)
CAST/EiJ	MGP_CASTEiJ_G0027917	protein coding gene	Chr4:124977026-125095319 (+)
CBA/J	MGP_CBAJ_G0028450	protein coding gene	Chr4:136576945-136704284 (+)
DBA/2J	MGP_DBA2J_G0028599	protein coding gene	Chr4:123847974-123965075 (+)
FVB/NJ	MGP_FVBNJ_G0028566	protein coding gene	Chr4:122505608-122626192 (+)
LP/J	MGP_LPJ_G0028700	protein coding gene	Chr4:128743763-128863549 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0028592	protein coding gene	Chr4:141596896-141717893 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0029250	protein coding gene	Chr4:127155587-127273633 (+)
PWK/PhJ	MGP_PWKPhJ_G0027638	protein coding gene	Chr4:120345933-120466305 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0027464	protein coding gene	Chr4:122983176-123107683 (+)
WSB/EiJ	MGP_WSBEiJ_G0027997	protein coding gene	Chr4:127265749-127385943 (+)

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

neXtProt AC: NX_Q8IZA0

UniProt: Q8IZA0
Chr Location

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

Alliance of Genome Resources

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

vertebrate homology predictions: KIAA0319L
Gene Tree

AU040320

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Phenotype Summary

29 phenotypes from 4 alleles in 3 genetic backgrounds
20 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	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

16
Chemically induced (other)

2
Endonuclease-mediated

3
Gene trapped

3
Radiation induced

1
Targeted

7
Genomic Mutations

4 involving AU040320
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

37 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.

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All GO Annotations

19
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	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

816
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

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AU040320 interacts with 171 markers (Mir15a, Mir15b, Mir16-1, ...) View All

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All Sequences

108
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

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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

IPR013980 MANSC domain

IPR022409 PKD/Chitinase domain

IPR000601 PKD domain

IPR035986 PKD domain superfamily

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All nucleic 22

cDNA 22

Microarray probesets 4

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MGI:2442743

Summaries

All 45

Developmental Gene Expression 2

Gene Ontology 6

Phenotypes 20
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:282289 Huang Q, et al., Delivering genes across the blood-brain barrier: LY6A, a novel cellular receptor for AAV-PHP.B capsids. PLoS One. 2019;14(11):e0225206

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)
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