Ampd3 MGI Mouse Gene Detail - MGI:1096344 - adenosine monophosphate deaminase 3

Symbol

Ampd3
Name

adenosine monophosphate deaminase 3

Feature Type

protein coding gene
IDs

MGI:1096344
NCBI Gene: 11717
Alliance

gene page
Transcription Start Sites

25 TSS

Sequence Map

Chr7:110367413-110411612 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 7, 57.85 cM, cytoband E2-E3
Mapping Data

3 experiments

SNPs within 2kb

1312 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1096344	protein coding gene	Chr7:110367291-110411612 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0032859	protein coding gene	Chr7:114273093-114317006 (+)
A/J	MGP_AJ_G0032843	protein coding gene	Chr7:111444262-111488809 (+)
AKR/J	MGP_AKRJ_G0032774	protein coding gene	Chr7:114224882-114271405 (+)
BALB/cJ	MGP_BALBcJ_G0032847	protein coding gene	Chr7:111125443-111169681 (+)
C3H/HeJ	MGP_C3HHeJ_G0032557	protein coding gene	Chr7:114240091-114286998 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0033353	protein coding gene	Chr7:118998762-119046807 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0030325	protein coding gene	Chr7:113050454-113094912 (+)
CAST/EiJ	MGP_CASTEiJ_G0031885	protein coding gene	Chr7:105828246-105874013 (+)
CBA/J	MGP_CBAJ_G0032530	protein coding gene	Chr7:122885137-122934635 (+)
DBA/2J	MGP_DBA2J_G0032682	protein coding gene	Chr7:109527326-109572062 (+)
FVB/NJ	MGP_FVBNJ_G0032635	protein coding gene	Chr7:109385009-109429128 (+)
LP/J	MGP_LPJ_G0032776	protein coding gene	Chr7:115792895-115837056 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0032667	protein coding gene	Chr7:124552414-124597714 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0033374	protein coding gene	Chr7:113249928-113297138 (+)
PWK/PhJ	MGP_PWKPhJ_G0031592	protein coding gene	Chr7:102369471-102414585 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0031440	protein coding gene	Chr7:99997172-100041553 (+)
WSB/EiJ	MGP_WSBEiJ_G0031998	protein coding gene	Chr7:114104063-114149160 (+)

Human Ortholog

AMPD3, adenosine monophosphate deaminase 3

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

AMPD3, adenosine monophosphate deaminase 3
Links

HGNC:470

NCBI Gene ID: 272

neXtProt AC: NX_Q01432

UniProt: Q01432
Chr Location

11p15.4; chr11:10308313-10507579 (+) GRCh38

MGI Vertebrate Homology

Ampd3 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: AMPD3
Protein SuperFamily

AMP_deaminase_met
Gene Tree

Ampd3

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Phenotype Summary

10 phenotypes from 2 alleles in 3 genetic backgrounds
11 phenotypes from multigenic genotypes
27 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
Chemically induced (ENU)

1
Chemically induced (other)

1
Endonuclease-mediated

4
Gene trapped

1
Radiation induced

1
Targeted

5
Genomic Mutations

2 involving Ampd3
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

39 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit increased mean corpuscular volume, abnormal erythrocyte physiology including increased erythrocyte ATP levels and osmotic fragility after fasting, and increased lung inflammation after hind-limb ischemia andreperfusion.

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All GO Annotations

27
GO References

12

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

855
Tissues

107
cDNA Data

19
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 ampd3

ZFIN ampd3b

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All Sequences

75
RefSeq

24
UniProt

6
CCDS

CCDS21747.1, CCDS90309.1

Ensembl

ENSMUSG00000005686 (Evidence)
NCBI Gene

11717

			Length	Strain/Species	Flank
genomic	ENSMUSG00000005686	Ensembl Gene Model \| MGI Sequence Detail	44200	C57BL/6J	± kb
transcript	ENSMUST00000213373	Ensembl \| MGI Sequence Detail	3337	Not Applicable
polypeptide	ENSMUSP00000149655	Ensembl \| MGI Sequence Detail	775	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000004003 AMP deaminase 3

(term hierarchy)
EC

3.5.4.6
InterPro Domains

IPR006650 Adenosine/AMP deaminase active site

IPR006329 AMP deaminase

IPR032466 Metal-dependent hydrolase

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All nucleic 28

Genomic 7

cDNA 19

Primer pair 2

Microarray probesets 3

Summaries

All 56

Developmental Gene Expression 4

Gene Ontology 12

Phenotypes 27
Earliest

J:88307 Giometti CS, et al., The analysis of recessive lethal mutations in mice by using two-dimensional gel electrophoresis of liver proteins. Mutat Res. 1990 Sep;242(1):47-55
Latest

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

TSS for Ampd3:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr68503	Chr7:110367270-110367307 (+)	-124 bp
Tssr68504	Chr7:110367313-110367334 (+)	-89 bp
Tssr68505	Chr7:110367345-110367363 (+)	-59 bp
Tssr68506	Chr7:110367376-110367400 (+)	-25 bp
Tssr68507	Chr7:110367822-110367841 (+)	419 bp
Tssr68508	Chr7:110368037-110368054 (+)	633 bp
Tssr68509	Chr7:110369833-110369840 (+)	2,424 bp
Tssr68510	Chr7:110371939-110371961 (+)	4,537 bp
Tssr68511	Chr7:110371969-110371974 (+)	4,559 bp
Tssr68512	Chr7:110371989-110372000 (+)	4,582 bp
Tssr68513	Chr7:110372013-110372014 (+)	4,601 bp
Tssr68514	Chr7:110372048-110372064 (+)	4,643 bp
Tssr68515	Chr7:110372612-110372630 (+)	5,208 bp
Tssr68516	Chr7:110372825-110372848 (+)	5,424 bp
Tssr68517	Chr7:110372865-110372892 (+)	5,466 bp
Tssr68518	Chr7:110373057-110373069 (+)	5,650 bp
Tssr68519	Chr7:110373073-110373141 (+)	5,694 bp
Tssr68520	Chr7:110373447-110373459 (+)	6,040 bp
Tssr68521	Chr7:110376761-110376781 (+)	9,358 bp
Tssr68522	Chr7:110376860-110376904 (+)	9,469 bp
Tssr68523	Chr7:110382700-110382703 (+)	15,289 bp
Tssr68524	Chr7:110402295-110402308 (+)	34,889 bp
Tssr68525	Chr7:110405366-110405393 (+)	37,967 bp
Tssr68526	Chr7:110408010-110408028 (+)	40,606 bp
Tssr68527	Chr7:110408032-110408061 (+)	40,634 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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