Mab21l1 MGI Mouse Gene Detail - MGI:1333773

Symbol

Mab21l1
Name

mab-21-like 1

Feature Type

protein coding gene
IDs

MGI:1333773
NCBI Gene: 17116
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr3:55689931-55692422 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 3, 26.65 cM, cytoband E3-F1
Mapping Data

4 experiments

SNPs within 2kb

112 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1333773	protein coding gene	Chr3:55689931-55692708 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0027226	protein coding gene	Chr3:54533485-54535976 (+)
A/J	MGP_AJ_G0027186	protein coding gene	Chr3:52851758-52854249 (+)
AKR/J	MGP_AKRJ_G0027156	protein coding gene	Chr3:53939740-53942234 (+)
BALB/cJ	MGP_BALBcJ_G0027199	protein coding gene	Chr3:52688668-52691159 (+)
C3H/HeJ	MGP_C3HHeJ_G0026942	protein coding gene	Chr3:54129045-54131536 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0027645	protein coding gene	Chr3:56565417-56567908 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0025003	protein coding gene	Chr3:49342109-49344597 (+)
CAST/EiJ	MGP_CASTEiJ_G0026394	protein coding gene	Chr3:54290845-54293339 (+)
CBA/J	MGP_CBAJ_G0026918	protein coding gene	Chr3:58402049-58404540 (+)
DBA/2J	MGP_DBA2J_G0027052	protein coding gene	Chr3:52389235-52391728 (+)
FVB/NJ	MGP_FVBNJ_G0027020	protein coding gene	Chr3:51378344-51380836 (+)
LP/J	MGP_LPJ_G0027164	protein coding gene	Chr3:55231146-55233637 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0027038	protein coding gene	Chr3:62484195-62490119 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0027703	protein coding gene	Chr3:53839051-53841542 (+)
PWK/PhJ	MGP_PWKPhJ_G0026126	protein coding gene	Chr3:52059710-52062201 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0025939	protein coding gene	Chr3:53602249-53604738 (+)
WSB/EiJ	MGP_WSBEiJ_G0026468	protein coding gene	Chr3:53974938-53977429 (+)

Human Ortholog

MAB21L1, mab-21 like 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

MAB21L1, mab-21 like 1
Synonyms

CAGR1, COFG, Nbla00126
Links

HGNC:6757

NCBI Gene ID: 4081

neXtProt AC: NX_Q13394

UniProt: Q13394
Chr Location

13q13.3; chr13:35473419-35478764 (-) GRCh38

MGI Vertebrate Homology

Mab21l1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: MAB21L1
Gene Tree

Mab21l1

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References

1 with disease annotations

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Phenotype Summary

17 phenotypes from 1 allele in 1 genetic background
10 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

3
Radiation induced

2
Targeted

1
Genomic Mutations

2 involving Mab21l1
Incidental Mutations

APF
Find Mice (IMSR)

15 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous mutation of this gene results in male infertility and eye developmental anomalies. Mutant eyes are small, absent of lens and iris, and display malformations of the retina.

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All GO Annotations

9
GO References

5

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

996
Tissues

123
cDNA Data

45
Literature Summary

23

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA MAB21L1

Xenbase mab21l1

ZFIN mab21l1

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All Sequences

33
RefSeq

2
UniProt

1
CCDS

CCDS17360.1

Ensembl

ENSMUSG00000056947 (Evidence)
NCBI Gene

17116

			Length	Strain/Species	Flank
genomic	ENSMUSG00000056947	Ensembl Gene Model \| MGI Sequence Detail	2492	C57BL/6J	± kb
transcript	ENSMUST00000075422	Ensembl \| MGI Sequence Detail	2492	Not Applicable
polypeptide	ENSMUSP00000074878	Ensembl \| MGI Sequence Detail	359	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000010034 putative nucleotidyltransferase MAB21L1

(term hierarchy)
EC

2.7.7.-
InterPro Domains

IPR024810 MAB21L/Cyclic GMP-AMP synthase-like receptor

IPR046906 Mab-21-like, HhH/H2TH-like domain

IPR046903 Mab-21-like, nucleotidyltransferase domain

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All nucleic 52

cDNA 46

Primer pair 4

Other 2

Microarray probesets 4

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MGI:2139952

Summaries

All 52

Developmental Gene Expression 23

Diseases 1

Gene Ontology 5

Phenotypes 10
Earliest

J:64276 Lyon MF, et al., Dose-response curves for radiation-induced gene mutations in mouse oocytes and their interpretation. Mutat Res. 1979 Nov;63(1):161-73
Latest

J:351048 Hall HN, et al., Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia. PLoS One. 2022;17(11):e0268149

TSS for Mab21l1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr29174	Chr3:55689921-55689942 (+)	1 bp
Tssr29175	Chr3:55689951-55689970 (+)	30 bp
Tssr29176	Chr3:55690803-55690825 (+)	883 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 11/19/2024 MGI 6.24