Efl1 MGI Mouse Gene Detail - MGI:2141969 - elongation factor like GTPase 1

Symbol

Efl1
Name

elongation factor like GTPase 1
Synonyms

4932434J20Rik, 6030468D11Rik, D7Ertd791e, Eftud1

Feature Type

protein coding gene
IDs

MGI:2141969
NCBI Gene: 101592
Alliance

gene page
Transcription Start Sites

20 TSS

Sequence Map

Chr7:82297822-82427060 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 7, 47.25 cM
Mapping Data

3 experiments

SNPs within 2kb

3775 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2141969	protein coding gene	Chr7:82297811-82427060 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0032445	protein coding gene	Chr7:84780238-84909343 (+)
A/J	MGP_AJ_G0032423	protein coding gene	Chr7:82738539-82868853 (+)
AKR/J	MGP_AKRJ_G0032359	protein coding gene	Chr7:84611592-84741825 (+)
BALB/cJ	MGP_BALBcJ_G0032435	protein coding gene	Chr7:82403740-82529134 (+)
C3H/HeJ	MGP_C3HHeJ_G0032149	protein coding gene	Chr7:85187075-85316309 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0032926	protein coding gene	Chr7:88070933-88205575 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0029936	protein coding gene	Chr7:85172901-85297376 (+)
CAST/EiJ	MGP_CASTEiJ_G0031476	protein coding gene	Chr7:76156936-76286946 (+)
CBA/J	MGP_CBAJ_G0032114	protein coding gene	Chr7:91002588-91135797 (+)
DBA/2J	MGP_DBA2J_G0032269	protein coding gene	Chr7:81259198-81382929 (+)
FVB/NJ	MGP_FVBNJ_G0032223	protein coding gene	Chr7:81214528-81337424 (+)
LP/J	MGP_LPJ_G0032350	protein coding gene	Chr7:85989385-86125327 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0032260	protein coding gene	Chr7:91055000-91183974 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0032946	protein coding gene	Chr7:84025352-84149441 (+)
PWK/PhJ	MGP_PWKPhJ_G0031196	protein coding gene	Chr7:74479616-74606750 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0031038	protein coding gene	Chr7:71010268-71148830 (+)
WSB/EiJ	MGP_WSBEiJ_G0031593	protein coding gene	Chr7:84390488-84518226 (+)

Human Ortholog

EFL1, elongation factor like GTPase 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

EFL1, elongation factor like GTPase 1
Synonyms

EFTUD1, FAM42A, HsT19294, RIA1, SDS2
Links

HGNC:25789

NCBI Gene ID: 79631

neXtProt AC: NX_Q7Z2Z2

UniProt: Q7Z2Z2
Chr Location

15q25.2; chr15:82130206-82262773 (-) GRCh38

MGI Vertebrate Homology

Efl1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: EFL1
Gene Tree

Efl1

Diseases

1 with human EFL1 associations

				Human Disease	Mouse Models
				Shwachman-Diamond syndrome IDs Shwachman-Diamond syndrome DOID:0060479 ICD10CM:D61.0 MESH:C537330 OMIM:260400

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

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Phenotype Summary

8 phenotypes from 2 alleles in 3 genetic backgrounds
1 images
23 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

17
Chemically induced (ENU)

1
Chemically induced (other)

1
Endonuclease-mediated

3
Gene trapped

8
Radiation induced

2
Targeted

2
Genomic Mutations

3 involving Efl1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

57 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele show embryonic growth retardation, disorganized extraembryonic tissue, failure of primitive streak formation and gastrulation, and complete embryonic lethality by E9.5. Mice homozygous for an ENU-induced mutation exhibit late-onset and progressive gait abnormalities.

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All GO Annotations

16
GO References

4

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	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

715
Tissues

2
cDNA Data

59
Literature Summary

2

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase efl1

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All Sequences

63
RefSeq

12
UniProt

3
CCDS

CCDS21410.1

Ensembl

ENSMUSG00000038563 (Evidence)
NCBI Gene

101592

			Length	Strain/Species	Flank
genomic	ENSMUSG00000038563	Ensembl Gene Model \| MGI Sequence Detail	129239	C57BL/6J	± kb
transcript	ENSMUST00000039881	Ensembl \| MGI Sequence Detail	3610	Not Applicable
polypeptide	ENSMUSP00000046046	Ensembl \| MGI Sequence Detail	1127	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000029450 elongation factor-like GTPase 1

(term hierarchy)
InterPro Domains

IPR035647 EF-G domain III/V-like

IPR000640 Elongation factor EFG, domain V-like

IPR041095 Elongation Factor G, domain II

IPR027417 P-loop containing nucleoside triphosphate hydrolase

IPR020568 Ribosomal protein uS5 domain 2-type superfamily

IPR005225 Small GTP-binding protein domain

IPR014721 Small ribosomal subunit protein uS5 domain 2-type fold, subgroup

IPR000795 Translational (tr)-type GTP-binding domain

IPR009000 Translation protein, beta-barrel domain superfamily

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All nucleic 60

cDNA 59

Primer pair 1

Microarray probesets 5

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MGI:1289296, MGI:1921641, MGI:2142128, MGI:2142145

Summaries

All 51

Developmental Gene Expression 2

Gene Ontology 4

Phenotypes 23
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 Efl1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr67539	Chr7:82297560-82297564 (+)	-260 bp
Tssr67540	Chr7:82297803-82297861 (+)	10 bp
Tssr67541	Chr7:82298588-82298599 (+)	772 bp
Tssr67542	Chr7:82328242-82328246 (+)	30,422 bp
Tssr67543	Chr7:82404930-82404936 (+)	107,111 bp
Tssr67544	Chr7:82404958-82404969 (+)	107,142 bp
Tssr67545	Chr7:82420224-82420264 (+)	122,422 bp
Tssr67546	Chr7:82420418-82420443 (+)	122,609 bp
Tssr67547	Chr7:82420483-82420490 (+)	122,665 bp
Tssr67548	Chr7:82420524-82420542 (+)	122,711 bp
Tssr67549	Chr7:82420596-82420648 (+)	122,800 bp
Tssr67550	Chr7:82420718-82420735 (+)	122,905 bp
Tssr67551	Chr7:82420750-82420769 (+)	122,938 bp
Tssr67552	Chr7:82420770-82420771 (+)	122,949 bp
Tssr67553	Chr7:82420828-82420833 (+)	123,009 bp
Tssr67554	Chr7:82420849-82420887 (+)	123,046 bp
Tssr67555	Chr7:82420976-82421011 (+)	123,172 bp
Tssr67556	Chr7:82421082-82421112 (+)	123,275 bp
Tssr67557	Chr7:82421133-82421163 (+)	123,326 bp
Tssr67558	Chr7:82421168-82421219 (+)	123,372 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 10/29/2024 MGI 6.24