Llgl1 MGI Mouse Gene Detail - MGI:102682 - LLGL1 scribble cell polarity complex component

Symbol

Llgl1
Name

LLGL1 scribble cell polarity complex component
Synonyms

Lgl1

Feature Type

protein coding gene
IDs

MGI:102682
NCBI Gene: 16897
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr11:60590549-60605012 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 37.81 cM
Mapping Data

10 experiments

SNPs within 2kb

111 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_102682	protein coding gene	Chr11:60590501-60605012 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0018421	protein coding gene	Chr11:60612499-60628664 (+)
A/J	MGP_AJ_G0018390	protein coding gene	Chr11:58382747-58397175 (+)
AKR/J	MGP_AKRJ_G0018360	protein coding gene	Chr11:60236208-60250688 (+)
BALB/cJ	MGP_BALBcJ_G0018361	protein coding gene	Chr11:58679700-58694147 (+)
C3H/HeJ	MGP_C3HHeJ_G0018174	protein coding gene	Chr11:60170735-60185163 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0018813	protein coding gene	Chr11:62535218-62549665 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016459	protein coding gene	Chr11:55525631-55539823 (+)
CAST/EiJ	MGP_CASTEiJ_G0017731	protein coding gene	Chr11:60267960-60282393 (+)
CBA/J	MGP_CBAJ_G0018148	protein coding gene	Chr11:65256045-65270473 (+)
DBA/2J	MGP_DBA2J_G0018257	protein coding gene	Chr11:57969220-57983707 (+)
FVB/NJ	MGP_FVBNJ_G0018248	protein coding gene	Chr11:57631495-57645942 (+)
LP/J	MGP_LPJ_G0018330	protein coding gene	Chr11:61192365-61206875 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0018272	protein coding gene	Chr11:66310867-66328487 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018854	protein coding gene	Chr11:60326872-60341300 (+)
PWK/PhJ	MGP_PWKPhJ_G0017504	protein coding gene	Chr11:58546862-58561285 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0017294	protein coding gene	Chr11:60145483-60159877 (+)
WSB/EiJ	MGP_WSBEiJ_G0017783	protein coding gene	Chr11:59944606-59963334 (+)

Human Ortholog

LLGL1, LLGL scribble cell polarity complex component 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

LLGL1, LLGL scribble cell polarity complex component 1
Synonyms

DLG4, HUGL, HUGL1, HUGL-1, Lgl1, LLGL, Mgl1
Links

HGNC:6628

NCBI Gene ID: 3996

neXtProt AC: NX_Q15334

UniProt: Q15334
Chr Location

17p11.2; chr17:18225635-18244875 (+) GRCh38

MGI Vertebrate Homology

Llgl1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: LLGL1
Gene Tree

Llgl1

less

References

2 with disease annotations

less

Phenotype Summary

15 phenotypes from 2 alleles in 2 genetic backgrounds
34 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

10
Chemically induced (other)

1
Endonuclease-mediated

1
Gene trapped

4
Targeted

4
Genomic Mutations

3 involving Llgl1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

63 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous mutant mice die neonatally exhibiting hydroencephaly. Neural progenitor cell physiology is abnormal, resulting in a loss of cell polarity and the development of neuroepithelial rosette-like structures throughout the brain.

less

All GO Annotations

38
GO References

11

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.

less

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

888
Tissues

164
cDNA Data

169
Literature Summary

14

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase llgl1

ZFIN llgl1

less

All Sequences

60
RefSeq

18
UniProt

3
CCDS

CCDS48812.1, CCDS48813.1

Ensembl

ENSMUSG00000020536 (Evidence)
NCBI Gene

16897

			Length	Strain/Species	Flank
genomic	ENSMUSG00000020536	Ensembl Gene Model \| MGI Sequence Detail	14464	C57BL/6J	± kb
transcript	ENSMUST00000052346	Ensembl \| MGI Sequence Detail	4303	Not Applicable
polypeptide	ENSMUSP00000060749	Ensembl \| MGI Sequence Detail	1062	Not Applicable

less

UniProt

3 Sequences
Protein Ontology

PR:000009847 lethal(2) giant larvae protein homolog 1

(term hierarchy)
InterPro Domains

IPR000664 Lethal(2) giant larvae protein

IPR013577 Lethal giant larvae homologue 2

IPR013905 Lethal giant larvae (Lgl)-like, C-terminal domain

IPR001680 WD40 repeat

IPR036322 WD40-repeat-containing domain superfamily

IPR015943 WD40/YVTN repeat-like-containing domain superfamily

less

All nucleic 182

Genomic 10

cDNA 169

Primer pair 2

Other 1

Microarray probesets 4

less

MGD-MRK-19585, MGI:2144129

Summaries

All 80

Developmental Gene Expression 14

Diseases 2

Gene Ontology 11

Phenotypes 34
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:341189 Eifert T, et al., Cell fate determinant Llgl1 is required for propagation of acute myeloid leukemia. Leukemia. 2023 Oct;37(10):2027-2035

TSS for Llgl1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr101906	Chr11:60590510-60590536 (+)	-26 bp
Tssr101907	Chr11:60590544-60590576 (+)	11 bp
Tssr101908	Chr11:60590584-60590671 (+)	79 bp
Tssr101909	Chr11:60590676-60590723 (+)	151 bp
Tssr3514	Chr11:60594936-60594937 (+)	4,388 bp
Tssr101910	Chr11:60595506-60595542 (+)	4,975 bp
Tssr101911	Chr11:60597573-60597582 (+)	7,029 bp
Tssr101912	Chr11:60598097-60598113 (+)	7,556 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 04/16/2024 MGI 6.23