Nin MGI Mouse Gene Detail - MGI:105108

Symbol

Nin
Name

ninein
Synonyms

3110068G20Rik, mKIAA1565

Feature Type

protein coding gene
IDs

MGI:105108
NCBI Gene: 18080
Alliance

gene page
Transcription Start Sites

9 TSS

Sequence Map

Chr12:70058209-70160491 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 12, 28.94 cM, cytoband C3
Mapping Data

3 experiments

SNPs within 2kb

3266 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_105108	protein coding gene	Chr12:70058209-70160575 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0019806	protein coding gene	Chr12:69737969-69841024 (-)
A/J	MGP_AJ_G0019764	protein coding gene	Chr12:67137906-67239078 (-)
AKR/J	MGP_AKRJ_G0019740	protein coding gene	Chr12:69148041-69250815 (-)
BALB/cJ	MGP_BALBcJ_G0019744	protein coding gene	Chr12:67603432-67704380 (-)
C3H/HeJ	MGP_C3HHeJ_G0019550	protein coding gene	Chr12:69620424-69725285 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0020196	protein coding gene	Chr12:71965478-72066404 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017816	protein coding gene	Chr12:64676517-64777305 (-)
CAST/EiJ	MGP_CASTEiJ_G0019101	protein coding gene	Chr12:64366666-64473937 (-)
CBA/J	MGP_CBAJ_G0019519	protein coding gene	Chr12:74636016-74751205 (-)
DBA/2J	MGP_DBA2J_G0019635	protein coding gene	Chr12:67052557-67153107 (-)
FVB/NJ	MGP_FVBNJ_G0019622	protein coding gene	Chr12:65950450-66053167 (-)
LP/J	MGP_LPJ_G0019707	protein coding gene	Chr12:69699064-69810130 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019661	protein coding gene	Chr12:77932052-78037149 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0020231	protein coding gene	Chr12:68632023-68732510 (-)
PWK/PhJ	MGP_PWKPhJ_G0018866	protein coding gene	Chr12:61318707-61421154 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0018661	protein coding gene	Chr12:63010632-63111934 (-)
WSB/EiJ	MGP_WSBEiJ_G0019152	protein coding gene	Chr12:69261444-69366429 (-)

Human Ortholog

NIN, ninein

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

NIN, ninein
Synonyms

SCKL7
Links

HGNC:14906

NCBI Gene ID: 51199

neXtProt AC: NX_Q8N4C6

UniProt: Q8N4C6
Chr Location

14q22.1; chr14:50719763-50831503 (-) GRCh38

MGI Vertebrate Homology

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

vertebrate homology predictions: NIN
Gene Tree

Nin

Diseases

1 with human NIN associations

				Human Disease	Mouse Models
				Seckel syndrome 7 IDs Seckel syndrome 7 DOID:0070011 OMIM:614851

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

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Phenotype Summary

24 phenotypes from 3 alleles in 3 genetic backgrounds
10 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

10
Chemically induced (other)

1
Endonuclease-mediated

4
Targeted

5
Genomic Mutations

1 involving Nin
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

82 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit partial pre- and postnatal lethality, thinner skin, delayed skin barrier formation, impaired skin barrier function, impaired differentiation of suprabasal cells, and defects in mitotic spindle orientation, desmosome assembly and lamellar body secretion.

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All GO Annotations

48
GO References

23

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

1379
Tissues

71
cDNA Data

119
Literature Summary

17

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase nin

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All Sequences

115
RefSeq

32
UniProt

8
CCDS

CCDS36468.1, CCDS36469.1

Ensembl

ENSMUSG00000021068 (Evidence)
NCBI Gene

18080

			Length	Strain/Species	Flank
genomic	ENSMUSG00000021068	Ensembl Gene Model \| MGI Sequence Detail	102283	C57BL/6J	± kb
transcript	ENSMUST00000222237	Ensembl \| MGI Sequence Detail	9919	Not Applicable
polypeptide	ENSMUSP00000152240	Ensembl \| MGI Sequence Detail	2113	Not Applicable

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UniProt

8 Sequences
Protein Ontology

PR:000011212 ninein

(term hierarchy)
InterPro Domains

IPR002048 EF-hand domain

IPR011992 EF-hand domain pair

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All nucleic 120

cDNA 119

Primer pair 1

Microarray probesets 5

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MGD-MRK-32148, MGI:1920448, MGI:2144801, MGI:2144962

Summaries

All 69

Developmental Gene Expression 17

Gene Ontology 23

Phenotypes 10
Earliest

J:31172 Bouckson-Castaing V, et al., Molecular characterisation of ninein, a new coiled-coil protein of the centrosome. J Cell Sci. 1996 Jan;109(Pt 1):179-90
Latest

J:345633 Langner E, et al., Cep120 is essential for kidney stromal progenitor cell growth and differentiation. EMBO Rep. 2024 Jan;25(1):428-454

TSS for Nin:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr116555	Chr12:70160506-70160542 (-)	-33 bp
Tssr116554	Chr12:70158739-70158813 (-)	1,715 bp
Tssr116553	Chr12:70158722-70158733 (-)	1,763 bp
Tssr116552	Chr12:70158348-70158362 (-)	2,136 bp
Tssr116551	Chr12:70158064-70158075 (-)	2,421 bp
Tssr116550	Chr12:70158032-70158048 (-)	2,451 bp
Tssr116549	Chr12:70130932-70130936 (-)	29,557 bp
Tssr116548	Chr12:70120567-70120572 (-)	39,921 bp
Tssr116547	Chr12:70091186-70091194 (-)	69,301 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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