4933427D14Rik MGI Mouse Gene Detail - MGI:1921727

Symbol

4933427D14Rik
Name

RIKEN cDNA 4933427D14 gene
Synonyms

Gm43951

Feature Type

protein coding gene
IDs

MGI:1921727
NCBI Gene: 74477
Alliance

gene page
Transcription Start Sites

4 TSS

Sequence Map

Chr11:72044755-72098308 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, Syntenic
Mapping Data

4 experiments

SNPs within 2kb

1131 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1921727	protein coding gene	Chr11:72044755-72098308 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0018630	protein coding gene	Chr11:72770252-72825359 (-)
A/J	MGP_AJ_G0018598	protein coding gene	Chr11:70046136-70099900 (-)
AKR/J	MGP_AKRJ_G0018567	protein coding gene	Chr11:72178069-72232905 (-)
BALB/cJ	MGP_BALBcJ_G0018570	protein coding gene	Chr11:70338838-70394685 (-)
C3H/HeJ	MGP_C3HHeJ_G0018383	protein coding gene	Chr11:72136991-72194242 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0019021	protein coding gene	Chr11:74964021-75023419 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016664	protein coding gene	Chr11:66886711-66941014 (-)
CAST/EiJ	MGP_CASTEiJ_G0017938	protein coding gene	Chr11:72514190-72567241 (-)
CBA/J	MGP_CBAJ_G0018355	protein coding gene	Chr11:78289150-78347273 (-)
DBA/2J	MGP_DBA2J_G0018464	protein coding gene	Chr11:69694971-69749975 (-)
FVB/NJ	MGP_FVBNJ_G0018455	protein coding gene	Chr11:69215178-69274331 (-)
LP/J	MGP_LPJ_G0018535	protein coding gene	Chr11:73279957-73333199 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0018478	protein coding gene	Chr11:78864296-78924047 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0019063	protein coding gene	Chr11:72381551-72437474 (-)
PWK/PhJ	MGP_PWKPhJ_G0017711	protein coding gene	Chr11:70307155-70362047 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0017501	protein coding gene	Chr11:72088887-72143786 (-)
WSB/EiJ	MGP_WSBEiJ_G0017992	protein coding gene	Chr11:72122623-72176078 (-)

Human Ortholog

KIAA0753, KIAA0753

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

KIAA0753, KIAA0753
Synonyms

JBTS38, MNR, OFIP, SRTD21
Links

HGNC:29110

NCBI Gene ID: 9851

neXtProt AC: NX_Q2KHM9

UniProt: Q2KHM9
Chr Location

17p13.1; chr17:6578147-6640711 (-) GRCh38

MGI Vertebrate Homology

4933427D14Rik stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: KIAA0753

Diseases

3 with human KIAA0753 associations

				Human Disease	Mouse Models
				asphyxiating thoracic dystrophy IDs asphyxiating thoracic dystrophy DOID:0050592 ICD10CM:Q77.2 OMIM:PS208500 ORDO:474
				Joubert syndrome IDs Joubert syndrome DOID:0050777 ICD10CM:Q04.3 OMIM:PS213300 ORDO:475
				orofaciodigital syndrome IDs orofaciodigital syndrome DOID:4501 ICD10CM:Q87.0 MESH:D009958 UMLS_CUI:C0029294

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

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Phenotype Summary

4 phenotypes from 1 allele in 1 genetic background
1 images
17 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

9
Chemically induced (other)

1
Endonuclease-mediated

1
Targeted

7
Genomic Mutations

2 involving 4933427D14Rik
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

42 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit abnormal embryo turning, embryonic growth retardation, and complete lethality prior to organogenesis.

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All GO Annotations

14
GO References

6

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

67
Tissues

56
cDNA Data

73
Literature Summary

3

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

63
RefSeq

7
UniProt

6
CCDS

CCDS24979.1

Ensembl

ENSMUSG00000020807 (Evidence), ENSMUSG00000107877 (Evidence)
NCBI Gene

74477

			Length	Strain/Species	Flank
genomic	74477	NCBI Gene Model \| MGI Sequence Detail	53554	C57BL/6J	± kb
transcript	NR_155065	RefSeq \| MGI Sequence Detail	4942	ZRU/MplStud
polypeptide	Q6A000	UniProt \| EBI \| MGI Sequence Detail	959	Not Applicable

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UniProt

6 Sequences
InterPro Domains

IPR031447 Protein moonraker
GlyGen

Q6A000 1 site, 1 O-linked glycan (1 site)

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All nucleic 76

Genomic 1

cDNA 74

Primer pair 1

Microarray probesets 4

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MGI:2144674, MGI:5690343

Summaries

All 47

Developmental Gene Expression 3

Gene Ontology 6

Phenotypes 17
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 4933427D14Rik:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr109075	Chr11:72098239-72098314 (-)	31 bp
Tssr109074	Chr11:72098039-72098105 (-)	236 bp
Tssr109072	Chr11:72061616-72061645 (-)	36,677 bp
Tssr109071	Chr11:72061596-72061613 (-)	36,703 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 11/12/2024 MGI 6.24