Sestd1 MGI Mouse Gene Detail - MGI:1916262 - SEC14 and spectrin domains 1

Symbol

Sestd1
Name

SEC14 and spectrin domains 1
Synonyms

1500031J16Rik, MGC:51459

Feature Type

protein coding gene
IDs

MGI:1916262
NCBI Gene: 228071
Alliance

gene page
Transcription Start Sites

11 TSS

Sequence Map

Chr2:77010684-77110936 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 45.92 cM
Mapping Data

2 experiments

SNPs within 2kb

2156 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1916262	protein coding gene	Chr2:77010684-77111160 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0025872	protein coding gene	Chr2:77610147-77705004 (-)
A/J	MGP_AJ_G0025849	protein coding gene	Chr2:74600640-74688672 (-)
AKR/J	MGP_AKRJ_G0025818	protein coding gene	Chr2:76587899-76692672 (-)
BALB/cJ	MGP_BALBcJ_G0025844	protein coding gene	Chr2:74766519-74876045 (-)
C3H/HeJ	MGP_C3HHeJ_G0025604	protein coding gene	Chr2:76803857-76897609 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0026291	protein coding gene	Chr2:79899538-80000069 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0023694	protein coding gene	Chr2:71993771-72090035 (-)
CAST/EiJ	MGP_CASTEiJ_G0025066	protein coding gene	Chr2:77139959-77259728 (-)
CBA/J	MGP_CBAJ_G0025585	protein coding gene	Chr2:82847721-82947569 (-)
DBA/2J	MGP_DBA2J_G0025716	protein coding gene	Chr2:74182687-74277161 (-)
FVB/NJ	MGP_FVBNJ_G0025678	protein coding gene	Chr2:73572879-73666448 (-)
LP/J	MGP_LPJ_G0025804	protein coding gene	Chr2:77493670-77589108 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0025709	protein coding gene	Chr2:84665995-84762914 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0026347	protein coding gene	Chr2:76719330-76817737 (-)
PWK/PhJ	MGP_PWKPhJ_G0024809	protein coding gene	Chr2:74144426-74247361 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0024615	protein coding gene	Chr2:76959814-77065375 (-)
WSB/EiJ	MGP_WSBEiJ_G0025135	protein coding gene	Chr2:77190731-77288229 (-)

Human Ortholog

SESTD1, SEC14 and spectrin domain containing 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SESTD1, SEC14 and spectrin domain containing 1
Synonyms

SOLO
Links

HGNC:18379

NCBI Gene ID: 91404

neXtProt AC: NX_Q86VW0

UniProt: Q86VW0
Chr Location

2q31.2; chr2:179101678-179264832 (-) GRCh38

MGI Vertebrate Homology

Sestd1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: SESTD1
Gene Tree

Sestd1

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Phenotype Summary

11 phenotypes from 1 allele in 1 genetic background
5 phenotypes from multigenic genotypes
2 images
11 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

20
Chemically induced (other)

1
Gene trapped

13
Targeted

6
Genomic Mutations

3 involving Sestd1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

32 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit neonatal lethality, short and curly tail, absent genital tubercle, blind-end colon, hydronephrosis, absent bladder and more rounded posterior contour.

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All GO Annotations

26
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 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

741
Tissues

7
cDNA Data

77
Literature Summary

1

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase sestd1

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All Sequences

71
RefSeq

18
UniProt

1
CCDS

CCDS16163.1

Ensembl

ENSMUSG00000042272 (Evidence)
NCBI Gene

228071

			Length	Strain/Species	Flank
genomic	ENSMUSG00000042272	Ensembl Gene Model \| MGI Sequence Detail	100253	C57BL/6J	± kb
transcript	ENSMUST00000102660	Ensembl \| MGI Sequence Detail	8990	Not Applicable
polypeptide	ENSMUSP00000099721	Ensembl \| MGI Sequence Detail	696	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000032280 SEC14 domain and spectrin repeat-containing protein 1

(term hierarchy)
InterPro Domains

IPR001251 CRAL-TRIO lipid binding domain
GlyGen

Q80UK0 3 sites, 1 O-linked glycan (3 sites)

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All nucleic 77

cDNA 77

Microarray probesets 4

Summaries

All 38

Developmental Gene Expression 1

Gene Ontology 3

Phenotypes 11
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:285610 Yang XY, et al., Sestd1 Encodes a Developmentally Dynamic Synapse Protein That Complexes With BCR Rac1-GAP to Regulate Forebrain Dendrite, Spine and Synapse Formation. Cereb Cortex. 2019 Feb 1;29(2):505-516

TSS for Sestd1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr24852	Chr2:77111402-77111426 (-)	-478 bp
Tssr24851	Chr2:77111109-77111192 (-)	-215 bp
Tssr24850	Chr2:77110933-77110992 (-)	-27 bp
Tssr24849	Chr2:77110913-77110924 (-)	17 bp
Tssr24848	Chr2:77110898-77110909 (-)	32 bp
Tssr24847	Chr2:77109212-77109220 (-)	1,720 bp
Tssr24846	Chr2:77090362-77090406 (-)	20,552 bp
Tssr24845	Chr2:77090177-77090192 (-)	20,751 bp
Tssr24844	Chr2:77090162-77090176 (-)	20,767 bp
Tssr24843	Chr2:77089867-77089900 (-)	21,052 bp
Tssr24842	Chr2:77014828-77014831 (-)	96,106 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)
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