Guf1 MGI Mouse Gene Detail - MGI:2140726

Symbol

Guf1
Name

GUF1 homolog, GTPase
Synonyms

mtEF4

Feature Type

protein coding gene
IDs

MGI:2140726
NCBI Gene: 231279
Alliance

genome feature page
Transcription Start Sites

1 TSS

Sequence Map

Chr5:69714255-69731995 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 5, 37.13 cM
Mapping Data

1 experiment

SNPs within 2kb

398 from dbSNP Build 142
Strain Annotations

19

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2140726	protein coding gene	Chr5:69714255-69733316 (+)
129S1/SvImJ	ENSMUSG00200034513	protein coding gene	Chr5:65358372-65374552 (+)
A/J	ENSMUSG00195030785	protein coding gene	Chr5:64694140-64710321 (+)
AKR/J	ENSMUSG00220003097	protein coding gene	Chr5:64793155-64809336 (+)
BALB/cJ	ENSMUSG00180022499	protein coding gene	Chr5:64465798-64481979 (+)
C3H/HeJ	ENSMUSG00175024483	protein coding gene	Chr5:66515082-66531263 (+)
C57BL/6NJ	ENSMUSG00215005305	protein coding gene	Chr5:65270600-65286782 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0027274	protein coding gene	Chr5:62738024-62757166 (+)
CAST/EiJ	ENSTCUG00005028015	protein coding gene	Chr5:64369870-64386080 (+)
CBA/J	ENSMUSG00210022847	protein coding gene	Chr5:65442450-65458631 (+)
DBA/2J	ENSMUSG00185005377	protein coding gene	Chr5:67283130-67299311 (+)
FVB/NJ	ENSMUSG00205016480	protein coding gene	Chr5:64250413-64266594 (+)
JF1/MsJ	ENSUMUG00000003324	protein coding gene	Chr5:71804419-71822542 (+)
LP/J	ENSMUSG00230018452	protein coding gene	Chr5:71967995-71984175 (+)
NOD/ShiLtJ	ENSMUSG00190003807	protein coding gene	Chr5:64376744-64392925 (+)
NZO/HlLtJ	ENSMUSG00225008754	protein coding gene	Chr5:77034947-77051128 (+)
PWK/PhJ	ENSLUMG00010013630	protein coding gene	Chr5:64421480-64439623 (+)
SPRET/EiJ	ENSMSPG00010033947	protein coding gene	Chr5:66266959-66284182 (+)
WSB/EiJ	ENSIUOG00005017749	protein coding gene	Chr5:67240489-67256669 (+)

Human Ortholog

GUF1, GTP binding elongation factor GUF1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

GUF1, GTP binding elongation factor GUF1
Synonyms

DEE40, EF-4, EF4, EIEE40
Links

HGNC:25799

NCBI Gene ID: 60558

UniProt: Q8N442
Chr Location

4p12; chr4:44678420-44700928 (+) GRCh38

MGI Vertebrate Homology

Guf1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: GUF1
Gene Tree

Guf1

Diseases

1 with human GUF1 associations

				Human Disease	Mouse Models
				developmental and epileptic encephalopathy 40 IDs developmental and epileptic encephalopathy 40 DOID:0080427 OMIM:617065

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

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Phenotype Summary

12 phenotypes from 3 alleles in 3 genetic backgrounds
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 (other)

2
Endonuclease-mediated

4
Gene trapped

1
Radiation induced

1
Spontaneous

1
Targeted

4
Genomic Mutations

4 involving Guf1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

44 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele exhibit male infertility, decreased testis weight, oligozoospermia, asthenozoospermia, increased male germ cell apoptosis, and fractured or torn away sperm mitochondrial sheath with aberrant mitochondria that lack the inner-membrane system.

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All GO Annotations

14
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

597
cDNA Data

75

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase guf1

ZFIN guf1

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All Sequences

70
RefSeq

8
UniProt

5
CCDS

CCDS19322.1, CCDS80296.1

Ensembl

ENSMUSG00000029208 (Evidence)
NCBI Gene

231279

			Length	Strain/Species	Flank
genomic	231279	NCBI Gene Model \| MGI Sequence Detail	17741	C57BL/6J	± kb
transcript	NM_172711	RefSeq \| MGI Sequence Detail	5018	C57BL/6
polypeptide	Q8C3X4	UniProt \| EBI \| MGI Sequence Detail	651	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000008355 GTP-binding protein GUF1

(term hierarchy)
EC

3.6.5.-
InterPro Domains

IPR035647 EF-G domain III/V-like

IPR006297 Elongation factor 4

IPR035654 Elongation factor 4, domain IV

IPR000640 Elongation factor EFG, domain V-like

IPR013842 GTP-binding protein LepA, C-terminal

IPR038363 LepA, C-terminal domain superfamily

IPR027417 P-loop containing nucleoside triphosphate hydrolase

IPR005225 Small GTP-binding domain

IPR000795 Translational (tr)-type GTP-binding domain

IPR004161 Translation elongation factor EFTu-like, domain 2

IPR009000 Translation protein, beta-barrel domain superfamily

IPR031157 Tr-type G domain, conserved site
GlyGen

Q8C3X4 1 site, 1 N-linked glycan (1 site)

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All nucleic 75

cDNA 75

Microarray probesets 3

Summaries

All 52

Gene Ontology 7

Phenotypes 27
Earliest

J:5021 Batchelor AL, et al., A comparison of the mutagenic effectiveness of chronic neutron- and gamma-irradiation of mouse spermatogonia. Mutat Res. 1966 Jun;3(3):218-29
Latest

J:333298 Gao Y, et al., Mammalian elongation factor 4 regulates mitochondrial translation essential for spermatogenesis. Nat Struct Mol Biol. 2016 May;23(5):441-9

TSS for Guf1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr46598	Chr5:69714279-69714361 (+)	65 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 09/01/2026 MGI 6.24