Vps13b MGI Mouse Gene Detail - MGI:1916380 - vacuolar protein sorting 13B

Symbol

Vps13b
Name

vacuolar protein sorting 13B
Synonyms

1810042B05Rik, 2310042E16Rik, C330002D13Rik, Coh1, mKIAA0532, mKIAA5032

Feature Type

protein coding gene
IDs

MGI:1916380
NCBI Gene: 666173
Alliance

gene page
Transcription Start Sites

12 TSS

Sequence Map

Chr15:35371306-35931375 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 15, 14.46 cM, cytoband B3.3
Mapping Data

3 experiments

SNPs within 2kb

17909 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1916380	protein coding gene	Chr15:35371264-35931375 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0021787	protein coding gene	Chr15:33740808-34303056 (+)
A/J	MGP_AJ_G0021748	protein coding gene	Chr15:32468082-33008711 (+)
AKR/J	MGP_AKRJ_G0021726	protein coding gene	Chr15:33321415-33905371 (+)
BALB/cJ	MGP_BALBcJ_G0021754	protein coding gene	Chr15:32444539-33011905 (+)
C3H/HeJ	MGP_C3HHeJ_G0021529	protein coding gene	Chr15:33310086-33893524 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0022193	protein coding gene	Chr15:35016663-35597279 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0019731	protein coding gene	Chr15:30310368-30853154 (+)
CAST/EiJ	MGP_CASTEiJ_G0021045	protein coding gene	Chr15:33716697-34296407 (+)
CBA/J	MGP_CBAJ_G0021498	protein coding gene	Chr15:36104924-36739453 (+)
DBA/2J	MGP_DBA2J_G0021622	protein coding gene	Chr15:32268260-32821265 (+)
FVB/NJ	MGP_FVBNJ_G0021600	protein coding gene	Chr15:31688318-32231735 (+)
LP/J	MGP_LPJ_G0021691	protein coding gene	Chr15:33641470-34205708 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0021625	protein coding gene	Chr15:39123232-39852412 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0022216	protein coding gene	Chr15:33504166-34062645 (+)
PWK/PhJ	MGP_PWKPhJ_G0020789	protein coding gene	Chr15:32305493-32842910 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0020627	protein coding gene	Chr15:33196315-33776466 (+)
WSB/EiJ	MGP_WSBEiJ_G0021101	protein coding gene	Chr15:33467878-34052265 (+)

Human Ortholog

VPS13B, vacuolar protein sorting 13 homolog B

Vertebrate Orthologs

1

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

VPS13B, vacuolar protein sorting 13 homolog B
Synonyms

BLTP5B, CHS1, COH1
Links

HGNC:2183

NCBI Gene ID: 157680

UniProt: Q7Z7G8
Chr Location

8q22.2; chr8:99013266-99877580 (+) GRCh38

MGI Vertebrate Homology

Vps13b stringent orthology
1 human;1 mouse
HCOP

vertebrate homology predictions: VPS13B
Gene Tree

Vps13b

Diseases

2 with Vps13b mouse models; 1 with human VPS13B associations

Human Disease

Mouse Models

Cohen syndrome

IDs

View 1 model

cataract

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

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Phenotype Summary

46 phenotypes from 3 alleles in 3 genetic backgrounds
20 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

37
Chemically induced (other)

2
Endonuclease-mediated

3
Gene trapped

31
Targeted

1
Genomic Mutations

2 involving Vps13b
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

216 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous knockout affects the Golgi apparatus in spermatids which leads to male infertility. Homozygous KO also leads to early-onset cataracts and to hypoactivity and impaired motor coordination and spatial learning.

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All GO Annotations

17
GO References

2

Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.

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

706
cDNA Data

88
Literature Summary

1

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase vps13b

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All Sequences

54
RefSeq

2
UniProt

4
CCDS

CCDS49592.1

Ensembl

ENSMUSG00000037646 (Evidence)
NCBI Gene

666173

			Length	Strain/Species	Flank
genomic	ENSMUSG00000037646	Ensembl Gene Model \| MGI Sequence Detail	560070	C57BL/6J	± kb
transcript	ENSMUST00000048646	Ensembl \| MGI Sequence Detail	13757	Not Applicable
polypeptide	ENSMUSP00000045490	Ensembl \| MGI Sequence Detail	3993	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000017320 intermembrane lipid transfer protein VPS13B

(term hierarchy)
InterPro Domains

IPR039782 Intermembrane lipid transfer protein VPS13B

IPR031645 Vacuolar protein sorting-associated protein 13, DH-like domain

IPR026854 Vacuolar protein sorting-associated protein 13-like, N-terminal domain

IPR009543 Vacuolar protein sorting-associated protein 13, VPS13 adaptor binding domain
GlyGen

Q80TY5 3 sites, 2 N-linked glycans (2 sites)

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All nucleic 88

cDNA 88

Microarray probesets 5

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MGI:1923710, MGI:2146315, MGI:2443954

Summaries

All 46

Developmental Gene Expression 1

Diseases 1

Gene Ontology 2

Phenotypes 20
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

J:353822 Vacca F, et al., Exploring the pathological mechanisms underlying Cohen syndrome. Front Neurosci. 2024;18:1431400

TSS for Vps13b:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr131052	Chr15:35371219-35371240 (+)	-76 bp
Tssr131053	Chr15:35371255-35371284 (+)	-36 bp
Tssr131054	Chr15:35371301-35371314 (+)	2 bp
Tssr131055	Chr15:35371399-35371406 (+)	97 bp
Tssr131056	Chr15:35371439-35371515 (+)	171 bp
Tssr131057	Chr15:35371644-35371739 (+)	386 bp
Tssr131058	Chr15:35431527-35431541 (+)	60,228 bp
Tssr131059	Chr15:35492139-35492154 (+)	120,841 bp
Tssr131060	Chr15:35502053-35502058 (+)	130,750 bp
Tssr131061	Chr15:35531606-35531614 (+)	160,304 bp
Tssr131062	Chr15:35591993-35592003 (+)	220,692 bp
Tssr131063	Chr15:35653980-35653990 (+)	282,679 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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