Spg21 MGI Mouse Gene Detail - MGI:106403

Symbol

Spg21
Name

SPG21, maspardin
Synonyms

ACP33, BM-019, D9Wsu18e, GL010

Feature Type

protein coding gene
IDs

MGI:106403
NCBI Gene: 27965
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr9:65368229-65395752 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 9, 35.32 cM
Mapping Data

5 experiments

SNPs within 2kb

194 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_106403	protein coding gene	Chr9:65360571-65395752 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0034960	protein coding gene	Chr9:65196277-65223797 (+)
A/J	MGP_AJ_G0034940	protein coding gene	Chr9:62998513-63025989 (+)
AKR/J	MGP_AKRJ_G0034870	protein coding gene	Chr9:64490463-64517742 (+)
BALB/cJ	MGP_BALBcJ_G0034933	protein coding gene	Chr9:62721448-62749253 (+)
C3H/HeJ	MGP_C3HHeJ_G0034643	protein coding gene	Chr9:65018893-65046336 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0035452	protein coding gene	Chr9:66978443-67011199 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0032363	protein coding gene	Chr9:62647972-62675626 (+)
CAST/EiJ	MGP_CASTEiJ_G0033964	protein coding gene	Chr9:65203537-65233650 (+)
CBA/J	MGP_CBAJ_G0034614	protein coding gene	Chr9:69322339-69357506 (+)
DBA/2J	MGP_DBA2J_G0034773	protein coding gene	Chr9:62768143-62796712 (+)
FVB/NJ	MGP_FVBNJ_G0034715	protein coding gene	Chr9:62093194-62121258 (+)
LP/J	MGP_LPJ_G0034856	protein coding gene	Chr9:65473162-65501786 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0034757	protein coding gene	Chr9:70538727-70567736 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0035474	protein coding gene	Chr9:64589142-64618101 (+)
PWK/PhJ	MGP_PWKPhJ_G0033668	protein coding gene	Chr9:62973668-63001259 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0033502	protein coding gene	Chr9:64875755-64903919 (+)
WSB/EiJ	MGP_WSBEiJ_G0034077	protein coding gene	Chr9:64493209-64521142 (+)

Human Ortholog

SPG21, SPG21 abhydrolase domain containing, maspardin

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SPG21, SPG21 abhydrolase domain containing, maspardin
Synonyms

ABHD21, ACP33, BM-019, GL010, MAST
Links

HGNC:20373

NCBI Gene ID: 51324

neXtProt AC: NX_Q9NZD8

UniProt: Q9NZD8
Chr Location

15q22.31; chr15:64963021-64989946 (-) GRCh38.p7

Alliance of Genome Resources

Spg21 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: SPG21
Gene Tree

Spg21

Diseases

1 with Spg21 mouse models; 1 with human SPG21 associations

Human Disease

Mouse Models

Mast syndrome

IDs

View 1 model

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

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

less

Phenotype Summary

6 phenotypes from 1 allele in 1 genetic background
9 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	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

12
Chemically induced (other)

1
Endonuclease-mediated

1
Gene trapped

7
Targeted

3
Genomic Mutations

1 involving Spg21
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

19 strains or lines available

Mice homozygous for a null allele exhibit impaired coordination, dragging of the hind limbs, attenuated growth and maturation of cortical neurons and abnormal cortical neuron axonal branching.

less

All GO Annotations

8
GO References

3

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 death	cell differentiation	cell population proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	nucleic acid-templated transcription	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

718
Tissues

5
cDNA Data

85
Literature Summary

2

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase spg21

ZFIN spg21

less

Spg21 interacts with 173 markers (Mir7-1, Mir10a, Mir17, ...) View All

less

All Sequences

70
RefSeq

6
UniProt

4
CCDS

CCDS23293.1

Ensembl

ENSMUSG00000032388 (Evidence)
NCBI Gene

27965

			Length	Strain/Species	Flank
genomic	ENSMUSG00000032388	Ensembl Gene Model \| MGI Sequence Detail	27524	C57BL/6J	± kb
transcript	ENSMUST00000034955	Ensembl \| MGI Sequence Detail	2680	Not Applicable
polypeptide	ENSMUSP00000034955	Ensembl \| MGI Sequence Detail	308	Not Applicable

less

UniProt

4 Sequences
Protein Ontology

PR:000015519 maspardin

(term hierarchy)
InterPro Domains

IPR029058 Alpha/Beta hydrolase fold

IPR000073 Alpha/beta hydrolase fold-1

IPR026151 Maspardin

less

All nucleic 87

cDNA 86

Primer pair 1

Microarray probesets 3

less

MGD-MRK-34096, MGI:2143397

Summaries

All 37

Developmental Gene Expression 2

Diseases 1

Gene Ontology 3

Phenotypes 9
Earliest

J:50869 Ko MSH, et al., Genome-wide mapping of unselected transcripts from extraembryonic tissue of 7.5-day mouse embryos reveals enrichment in the t-complex and under-representation on the X chromosome. Hum Mol Genet. 1998 Nov;7(12):1967-78
Latest

J:302080 Davenport A, et al., Loss of Maspardin Attenuates the Growth and Maturation of Mouse Cortical Neurons. Neurodegener Dis. 2016;16(3-4):260-72

TSS for Spg21:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr2916	Chr9:65368194-65368199 (+)	-32 bp
Tssr85703	Chr9:65368208-65368265 (+)	8 bp
Tssr85704	Chr9:65368266-65368275 (+)	42 bp
Tssr85705	Chr9:65368603-65368633 (+)	389 bp
Tssr85706	Chr9:65369820-65369824 (+)	1,593 bp
Tssr85707	Chr9:65369947-65369954 (+)	1,722 bp
Tssr85708	Chr9:65370077-65370122 (+)	1,871 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 & Copyright Notice Send questions and comments to User Support.	last database update 06/14/2022 MGI 6.19