Wdr48 MGI Mouse Gene Detail - MGI:1914811

Symbol

Wdr48
Name

WD repeat domain 48
Synonyms

8430408H12Rik, Uaf1

Feature Type

protein coding gene
IDs

MGI:1914811
NCBI Gene: 67561
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr9:119723961-119755652 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 9, 71.33 cM, cytoband F4
Mapping Data

2 experiments

SNPs within 2kb

872 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1914811	protein coding gene	Chr9:119723944-119755653 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0035424	protein coding gene	Chr9:122702571-122734212 (+)
A/J	MGP_AJ_G0035405	protein coding gene	Chr9:118107706-118139379 (+)
AKR/J	MGP_AKRJ_G0035338	protein coding gene	Chr9:121200912-121233839 (+)
BALB/cJ	MGP_BALBcJ_G0035401	protein coding gene	Chr9:117995902-118027630 (+)
C3H/HeJ	MGP_C3HHeJ_G0035109	protein coding gene	Chr9:121670280-121701878 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0035924	protein coding gene	Chr9:126067092-126099499 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0032806	protein coding gene	Chr9:115310783-115345038 (+)
CAST/EiJ	MGP_CASTEiJ_G0034413	protein coding gene	Chr9:121676118-121708971 (+)
CBA/J	MGP_CBAJ_G0035076	protein coding gene	Chr9:130768723-130803909 (+)
DBA/2J	MGP_DBA2J_G0035235	protein coding gene	Chr9:117559597-117591247 (+)
FVB/NJ	MGP_FVBNJ_G0035182	protein coding gene	Chr9:116437315-116469195 (+)
LP/J	MGP_LPJ_G0035314	protein coding gene	Chr9:123039938-123071588 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0035223	protein coding gene	Chr9:131709374-131742199 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0035943	protein coding gene	Chr9:121590470-121622420 (+)
PWK/PhJ	MGP_PWKPhJ_G0034118	protein coding gene	Chr9:117994766-118026841 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0033954	protein coding gene	Chr9:121676055-121708442 (+)
WSB/EiJ	MGP_WSBEiJ_G0034533	protein coding gene	Chr9:121475353-121507050 (+)

Human Ortholog

WDR48, WD repeat domain 48

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

WDR48, WD repeat domain 48
Synonyms

Bun62, P80, SPG60, UAF1
Links

HGNC:30914

NCBI Gene ID: 57599

neXtProt AC: NX_Q8TAF3

UniProt: Q8TAF3
Chr Location

3p22.2; chr3:39052013-39096671 (+) GRCh38

MGI Vertebrate Homology

Wdr48 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: WDR48
Gene Tree

Wdr48

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Phenotype Summary

14 phenotypes from 1 allele in 1 genetic background
4 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

5
Gene trapped

2
Targeted

3
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

30 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit embryonic lethality prior to E10.5 with reduced embryonic growth. Mice heterozygous for this allele exhibit reduced weight at birth, skeletal defects and reduced female and male fertility.

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All GO Annotations

35
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	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

712
Tissues

1
cDNA Data

15
Literature Summary

2

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase wdr48

ZFIN wdr48b

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All Sequences

67
RefSeq

8
UniProt

2
CCDS

CCDS23618.1

Ensembl

ENSMUSG00000032512 (Evidence)
NCBI Gene

67561

			Length	Strain/Species	Flank
genomic	67561	NCBI Gene Model \| MGI Sequence Detail	31692	C57BL/6J	± kb
transcript	NR_184638	RefSeq \| MGI Sequence Detail	4046	C57BL/6
polypeptide	Q8BH57	UniProt \| EBI \| MGI Sequence Detail	676	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000017394 WD repeat-containing protein 48

(term hierarchy)
InterPro Domains

IPR020472 G-protein beta WD-40 repeat

IPR001680 WD40 repeat

IPR019775 WD40 repeat, conserved site

IPR036322 WD40-repeat-containing domain superfamily

IPR015943 WD40/YVTN repeat-like-containing domain superfamily

IPR021772 WDR48/Bun107

IPR051246 WD repeat-containing protein 48

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All nucleic 16

cDNA 16

Microarray probesets 8

Summaries

All 29

Developmental Gene Expression 2

Gene Ontology 6

Phenotypes 4
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:299825 Song H, et al., UAF1 deubiquitinase complexes facilitate NLRP3 inflammasome activation by promoting NLRP3 expression. Nat Commun. 2020 Nov 27;11(1):6042

TSS for Wdr48:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr87690	Chr9:119723942-119723979 (+)	0 bp
Tssr87691	Chr9:119724197-119724214 (+)	245 bp
Tssr87692	Chr9:119724221-119724277 (+)	288 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 11/12/2024 MGI 6.24