Pld4 MGI Mouse Gene Detail - MGI:2144765 - phospholipase D family member 4

Symbol

Pld4
Name

phospholipase D family member 4
Synonyms

thss

Feature Type

protein coding gene
IDs

MGI:2144765
NCBI Gene: 104759
Alliance

gene page
Transcription Start Sites

23 TSS

Sequence Map

Chr12:112727089-112735420 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 12, 61.20 cM
Mapping Data

1 experiment

SNPs within 2kb

322 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2144765	protein coding gene	Chr12:112727089-112735424 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0020159	protein coding gene	Chr12:115233939-115242495 (+)
A/J	MGP_AJ_G0020115	protein coding gene	Chr12:110790964-110800155 (+)
AKR/J	MGP_AKRJ_G0020090	protein coding gene	Chr12:113989698-114000066 (+)
BALB/cJ	MGP_BALBcJ_G0020100	protein coding gene	Chr12:111235309-111245747 (+)
C3H/HeJ	MGP_C3HHeJ_G0019902	protein coding gene	Chr12:114497392-114505834 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0020545	protein coding gene	Chr12:118797566-118808293 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0018159	protein coding gene	Chr12:107224694-107233209 (+)
CAST/EiJ	MGP_CASTEiJ_G0019442	protein coding gene	Chr12:109341400-109349732 (+)
CBA/J	MGP_CBAJ_G0019869	protein coding gene	Chr12:123333858-123345444 (+)
DBA/2J	MGP_DBA2J_G0019986	protein coding gene	Chr12:110269856-110278159 (+)
FVB/NJ	MGP_FVBNJ_G0019971	protein coding gene	Chr12:109102516-109110470 (+)
LP/J	MGP_LPJ_G0020060	protein coding gene	Chr12:115064783-115073032 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0020009	protein coding gene	Chr12:126426392-126434296 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0020574	protein coding gene	Chr12:113508936-113520600 (+)
PWK/PhJ	MGP_PWKPhJ_G0019204	protein coding gene	Chr12:104929866-104938532 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0019008	protein coding gene	Chr12:107670356-107680220 (+)
WSB/EiJ	MGP_WSBEiJ_G0019502	protein coding gene	Chr12:114416304-114427082 (+)

Human Ortholog

PLD4, phospholipase D family member 4

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PLD4, phospholipase D family member 4
Synonyms

C14orf175
Links

HGNC:23792

NCBI Gene ID: 122618

neXtProt AC: NX_Q96BZ4

UniProt: Q96BZ4
Chr Location

14q32.33; chr14:104924713-104937785 (+) GRCh38

MGI Vertebrate Homology

Pld4 stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: PLD4
Gene Tree

Pld4

Diseases

1 with Pld4 mouse models

Human Disease

Mouse Models

systemic lupus erythematosus

IDs

View 1 model

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

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

40 phenotypes from 5 alleles in 6 genetic backgrounds
16 phenotypes from multigenic genotypes
2 images
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

8
Chemically induced (ENU)

1
Endonuclease-mediated

3
Spontaneous

1
Targeted

3
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

26 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

A spontaneous mutation that introduces a premature stop codon results in smaller body size and thin fur. KO leads to an enlarged spleen and an altered immune response. The enzyme digests unphosphorylated 5' ends of single-stranded ODNs without secondary structure in endolysosomes.

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All GO Annotations

22
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

760
Tissues

15
cDNA Data

46
Literature Summary

4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

43
RefSeq

4
UniProt

1
CCDS

CCDS26195.1

Ensembl

ENSMUSG00000052160 (Evidence)
NCBI Gene

104759

			Length	Strain/Species	Flank
genomic	104759	NCBI Gene Model \| MGI Sequence Detail	8332	C57BL/6J	± kb
transcript	NM_178911	RefSeq \| MGI Sequence Detail	1978	C57BL/6
polypeptide	Q8BG07	UniProt \| EBI \| MGI Sequence Detail	503	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000012846 5'-3' exonuclease PLD4

(term hierarchy)
EC

3.1.16.1
InterPro Domains

IPR050874 Diverse function phospholipase D-related protein

IPR001736 Phospholipase D/Transphosphatidylase

IPR032803 PLD-like domain
GlyGen

Q8BG07 8 sites, 6 N-linked glycans (5 sites)

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All nucleic 48

cDNA 46

Primer pair 2

Microarray probesets 5

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MGI:4431063

Summaries

All 44

Developmental Gene Expression 4

Diseases 1

Gene Ontology 7

Phenotypes 14
Earliest

J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
Latest

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

TSS for Pld4:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr115407	Chr12:112726866-112726881 (+)	-215 bp
Tssr115408	Chr12:112727086-112727093 (+)	1 bp
Tssr115409	Chr12:112727117-112727151 (+)	45 bp
Tssr115410	Chr12:112727153-112727176 (+)	76 bp
Tssr115411	Chr12:112728064-112728078 (+)	982 bp
Tssr115412	Chr12:112729882-112729914 (+)	2,809 bp
Tssr115413	Chr12:112730432-112730484 (+)	3,369 bp
Tssr115414	Chr12:112730928-112730948 (+)	3,849 bp
Tssr115415	Chr12:112731467-112731484 (+)	4,387 bp
Tssr115416	Chr12:112731495-112731516 (+)	4,417 bp
Tssr115417	Chr12:112733139-112733158 (+)	6,060 bp
Tssr115418	Chr12:112733176-112733187 (+)	6,093 bp
Tssr115419	Chr12:112733210-112733229 (+)	6,131 bp
Tssr115420	Chr12:112733230-112733241 (+)	6,147 bp
Tssr115421	Chr12:112733277-112733288 (+)	6,194 bp
Tssr115422	Chr12:112733918-112733948 (+)	6,844 bp
Tssr115423	Chr12:112733949-112733977 (+)	6,874 bp
Tssr115424	Chr12:112733987-112734014 (+)	6,912 bp
Tssr115425	Chr12:112734029-112734046 (+)	6,949 bp
Tssr115426	Chr12:112734235-112734255 (+)	7,156 bp
Tssr115427	Chr12:112734258-112734286 (+)	7,183 bp
Tssr115428	Chr12:112734310-112734326 (+)	7,229 bp
Tssr115429	Chr12:112734917-112734937 (+)	7,838 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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