B9d1 MGI Mouse Gene Detail - MGI:1351471

Symbol

B9d1
Name

B9 protein domain 1
Synonyms

B9, Eppb9

Feature Type

protein coding gene
IDs

MGI:1351471
NCBI Gene: 27078
Alliance

gene page
Transcription Start Sites

1 TSS

Sequence Map

Chr11:61395970-61403757 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 37.96 cM
Mapping Data

2 experiments

SNPs within 2kb

253 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1351471	protein coding gene	Chr11:61395970-61403757 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0018441	protein coding gene	Chr11:61469710-61477502 (+)
A/J	MGP_AJ_G0018410	protein coding gene	Chr11:59199712-59207499 (+)
AKR/J	MGP_AKRJ_G0018380	protein coding gene	Chr11:61041565-61049358 (+)
BALB/cJ	MGP_BALBcJ_G0018381	protein coding gene	Chr11:59505171-59512958 (+)
C3H/HeJ	MGP_C3HHeJ_G0018194	protein coding gene	Chr11:61023645-61031432 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0018833	protein coding gene	Chr11:63420184-63427971 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016479	protein coding gene	Chr11:56325843-56333393 (+)
CAST/EiJ	MGP_CASTEiJ_G0017751	protein coding gene	Chr11:61130733-61138516 (+)
CBA/J	MGP_CBAJ_G0018168	protein coding gene	Chr11:66168417-66176204 (+)
DBA/2J	MGP_DBA2J_G0018277	protein coding gene	Chr11:58773570-58781355 (+)
FVB/NJ	MGP_FVBNJ_G0018268	protein coding gene	Chr11:58458360-58466153 (+)
LP/J	MGP_LPJ_G0018350	protein coding gene	Chr11:62038281-62046289 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0018292	protein coding gene	Chr11:67184508-67192270 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018874	protein coding gene	Chr11:61178269-61186061 (+)
PWK/PhJ	MGP_PWKPhJ_G0017524	protein coding gene	Chr11:59371965-59379750 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0017314	protein coding gene	Chr11:61000601-61008359 (+)
WSB/EiJ	MGP_WSBEiJ_G0017803	protein coding gene	Chr11:60783049-60790841 (+)

Human Ortholog

B9D1, B9 domain containing 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

B9D1, B9 domain containing 1
Synonyms

B9, EPPB9, JBTS27, MKS9, MKSR-1, MKSR1
Links

HGNC:24123

NCBI Gene ID: 27077

neXtProt AC: NX_Q9UPM9

UniProt: Q9UPM9
Chr Location

17p11.2; chr17:19334308-19378193 (-) GRCh38

MGI Vertebrate Homology

B9d1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: B9D1
Gene Tree

B9d1

Diseases

1 with B9d1 mouse models; 2 with human B9D1 associations

Human Disease

Mouse Models

Meckel syndrome

IDs

View 1 model

Joubert syndrome 27

IDs

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

37 phenotypes from 2 alleles in 4 genetic backgrounds
12 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

7
Chemically induced (other)

1
Endonuclease-mediated

2
Targeted

4
Genomic Mutations

1 involving B9d1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

14 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a gene trap or knock-out allele exhibit ciliary defects including kidney cysts, cleft palate, dextrocardia, holoprosencephaly, polydactyly, micropthalmia, ventricular septal defects, and thin myocardium.

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All GO Annotations

32
GO References

8

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

714
Tissues

2
cDNA Data

47
Literature Summary

2

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase b9d1

ZFIN b9d1

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All Sequences

51
RefSeq

10
UniProt

2
CCDS

CCDS24815.1

Ensembl

ENSMUSG00000001039 (Evidence)
NCBI Gene

27078

			Length	Strain/Species	Flank
genomic	27078	NCBI Gene Model \| MGI Sequence Detail	7788	C57BL/6J	± kb
transcript	NM_013717	RefSeq \| MGI Sequence Detail	834	C57BL/6
polypeptide	Q9R1S0	UniProt \| EBI \| MGI Sequence Detail	204	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000030466 B9 domain-containing protein 1

(term hierarchy)
InterPro Domains

IPR010796 B9-type C2 domain

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All nucleic 50

cDNA 47

Primer pair 3

Microarray probesets 3

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MGI:2144479

Summaries

All 39

Developmental Gene Expression 2

Diseases 1

Gene Ontology 8

Phenotypes 12
Earliest

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

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for B9d1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr101967	Chr11:61395964-61396036 (+)	30 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 12/10/2024 MGI 6.24