Son MGI Mouse Gene Detail - MGI:98353 - Son DNA binding protein

Symbol

Son
Name

Son DNA binding protein
Synonyms

2900011L12Rik, mKIAA1019

Feature Type

protein coding gene
IDs

MGI:98353
NCBI Gene: 20658
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr16:91444712-91476080 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 16, 53.22 cM
Mapping Data

2 experiments

SNPs within 2kb

505 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_98353	protein coding gene	Chr16:91444394-91476109 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0023046	protein coding gene	Chr16:92675284-92709731 (+)
A/J	MGP_AJ_G0023014	protein coding gene	Chr16:88340832-88373273 (+)
AKR/J	MGP_AKRJ_G0022984	protein coding gene	Chr16:91010592-91042208 (+)
BALB/cJ	MGP_BALBcJ_G0023016	protein coding gene	Chr16:88867966-88900363 (+)
C3H/HeJ	MGP_C3HHeJ_G0022777	protein coding gene	Chr16:91585637-91618457 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0023463	protein coding gene	Chr16:95668720-95701557 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0020965	protein coding gene	Chr16:86038201-86070515 (+)
CAST/EiJ	MGP_CASTEiJ_G0022296	protein coding gene	Chr16:92148320-92180574 (+)
CBA/J	MGP_CBAJ_G0022746	protein coding gene	Chr16:99757677-99792088 (+)
DBA/2J	MGP_DBA2J_G0022880	protein coding gene	Chr16:88244884-88277247 (+)
FVB/NJ	MGP_FVBNJ_G0022854	protein coding gene	Chr16:87369763-87401800 (+)
LP/J	MGP_LPJ_G0022950	protein coding gene	Chr16:92375384-92407127 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0022875	protein coding gene	Chr16:104299538-104335919 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0023481	protein coding gene	Chr16:91530677-91562550 (+)
PWK/PhJ	MGP_PWKPhJ_G0022041	protein coding gene	Chr16:88423210-88456066 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0021871	protein coding gene	Chr16:91091238-91125674 (+)
WSB/EiJ	MGP_WSBEiJ_G0022348	protein coding gene	Chr16:91774681-91806342 (+)

Human Ortholog

SON, SON DNA and RNA binding protein

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SON, SON DNA and RNA binding protein
Synonyms

BASS1, C21orf50, DBP-5, NREBP, SON3, TOKIMS
Links

HGNC:11183

NCBI Gene ID: 6651

neXtProt AC: NX_P18583

UniProt: P18583
Chr Location

21q22.11; chr21:33543038-33577481 (+) GRCh38

MGI Vertebrate Homology

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

vertebrate homology predictions: SON
Gene Tree

Son

Diseases

2 with human SON associations

				Human Disease	Mouse Models
				congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay IDs congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay DOID:0112359 OMIM:617641
				ZTTK syndrome IDs ZTTK syndrome DOID:0060953 OMIM:617140 ORDO:500150 UMLS_CUI:C4310696

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

References

4 with disease annotations

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Phenotype Summary

46 phenotypes from 2 alleles in 2 genetic backgrounds
80 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

48
Endonuclease-mediated

4
Gene trapped

33
Spontaneous

1
Targeted

9
Genomic Mutations

9 involving Son
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

121 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous null mice die before E6.5-7.5. Heterozygous mice model Zhu-Tokita-Takenouchi-Kim syndrome, with growth retardation, cognitive impairment, skeletal abnormalities, kidney agenesis, hematopoietic abnormalities including leukopenia and immunoglobulin deficiency and impaired erythropoiesis.

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All GO Annotations

24
GO References

7

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

1046
Tissues

161
cDNA Data

27
Literature Summary

9

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase son

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All Sequences

99
RefSeq

4
UniProt

10
CCDS

CCDS37399.1, CCDS37400.1

Ensembl

ENSMUSG00000022961 (Evidence)
NCBI Gene

20658

			Length	Strain/Species	Flank
genomic	20658	NCBI Gene Model \| MGI Sequence Detail	31369	C57BL/6J	± kb
transcript	NM_178880	RefSeq \| MGI Sequence Detail	8451	ZRU/MplStud
polypeptide	Q9QX47	UniProt \| EBI \| MGI Sequence Detail	2444	Not Applicable

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UniProt

10 Sequences
Protein Ontology

PR:000015406 SON protein

(term hierarchy)
InterPro Domains

IPR014720 Double-stranded RNA-binding domain

IPR000467 G-patch domain

IPR032922 Protein SON

IPR036322 WD40-repeat-containing domain superfamily
GlyGen

Q9QX47 9 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (8 sites)

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All nucleic 34

Genomic 1

cDNA 29

Primer pair 2

Other 2

Microarray probesets 11

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MGD-MRK-14487, MGI:1915461, MGI:2146338, MGI:2146586, MGI:2146715

Summaries

All 124

Developmental Gene Expression 9

Diseases 4

Gene Ontology 7

Phenotypes 80
Earliest

J:12630 Cheng S, et al., GART, SON, IFNAR, and CRF2-4 genes cluster on human chromosome 21 and mouse chromosome 16. Mamm Genome. 1993;4(6):338-42
Latest

J:347709 Vukadin L, et al., A mouse model of Zhu-Tokita-Takenouchi-Kim syndrome reveals indispensable SON functions in organ development and hematopoiesis. JCI Insight. 2024 Mar 8;9(5)

TSS for Son:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr139422	Chr16:91443948-91443994 (+)	-741 bp
Tssr139423	Chr16:91444730-91444746 (+)	26 bp
Tssr139424	Chr16:91444747-91444793 (+)	58 bp
Tssr139428	Chr16:91456400-91456426 (+)	11,701 bp
Tssr139429	Chr16:91456546-91456601 (+)	11,862 bp
Tssr139430	Chr16:91460268-91460289 (+)	15,567 bp
Tssr139431	Chr16:91460846-91460858 (+)	16,140 bp
Tssr139432	Chr16:91473367-91473371 (+)	28,657 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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