Sass6 MGI Mouse Gene Detail - MGI:1920026 - SAS-6 centriolar assembly protein

Symbol

Sass6
Name

SAS-6 centriolar assembly protein
Synonyms

2810453L12Rik

Feature Type

protein coding gene
IDs

MGI:1920026
NCBI Gene: 72776
Alliance

genome feature page
Transcription Start Sites

4 TSS

Sequence Map

Chr3:116388631-116424653 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 3, 50.40 cM, cytoband G2
Mapping Data

2 experiments

SNPs within 2kb

1312 from dbSNP Build 142
Strain Annotations

19

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1920026	protein coding gene	Chr3:116388577-116424816 (+)
129S1/SvImJ	ENSMUSG00200025629	protein coding gene	Chr3:113046262-113082460 (+)
A/J	ENSMUSG00195014100	protein coding gene	Chr3:113295849-113331807 (+)
AKR/J	ENSMUSG00220024616	protein coding gene	Chr3:111703166-111739091 (+)
BALB/cJ	ENSMUSG00180027957	protein coding gene	Chr3:113240603-113276574 (+)
C3H/HeJ	ENSMUSG00175024507	protein coding gene	Chr3:112781129-112817100 (+)
C57BL/6NJ	ENSMUSG00215005360	protein coding gene	Chr3:113513948-113550070 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0025569	protein coding gene	Chr3:110313791-110348721 (+)
CAST/EiJ	ENSTCUG00005029818	protein coding gene	Chr3:113793475-113828806 (+)
CBA/J	ENSMUSG00210002417	protein coding gene	Chr3:113389833-113425798 (+)
DBA/2J	ENSMUSG00185007432	protein coding gene	Chr3:113979700-114015820 (+)
FVB/NJ	ENSMUSG00205016860	protein coding gene	Chr3:112328809-112364735 (+)
JF1/MsJ	ENSUMUG00000001368	protein coding gene	Chr3:112880780-112916861 (+)
LP/J	ENSMUSG00230009751	protein coding gene	Chr3:115907094-115943285 (+)
NOD/ShiLtJ	ENSMUSG00190030813	protein coding gene	Chr3:114343632-114379736 (+)
NZO/HlLtJ	ENSMUSG00225003251	protein coding gene	Chr3:118402111-118438242 (+)
PWK/PhJ	ENSLUMG00010008859	protein coding gene	Chr3:112765702-112801502 (+)
SPRET/EiJ	ENSMSPG00010028441	protein coding gene	Chr3:113400772-113431437 (+)
WSB/EiJ	ENSIUOG00005006312	protein coding gene	Chr3:113559036-113595002 (+)

Human Ortholog

SASS6, SAS-6 centriolar assembly protein

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SASS6, SAS-6 centriolar assembly protein
Synonyms

MCPH14, SAS-6, SAS6
Links

HGNC:25403

NCBI Gene ID: 163786

UniProt: Q6UVJ0
Chr Location

1p21.2; chr1:100083563-100132955 (-) GRCh38

MGI Vertebrate Homology

Sass6 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: SASS6
Gene Tree

Sass6

Diseases

1 with human SASS6 associations

				Human Disease	Mouse Models
				primary autosomal recessive microcephaly 14 IDs primary autosomal recessive microcephaly 14 DOID:0070279 OMIM:616402

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

References

1 with disease annotations

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Phenotype Summary

25 phenotypes from 3 alleles in 3 genetic backgrounds
1 phenotype from multigenic genotypes
15 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

44
Chemically induced (other)

1
Endonuclease-mediated

6
Gene trapped

34
Radiation induced

1
Targeted

2
Genomic Mutations

2 involving Sass6
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

33 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for null or hypomorph mutations display embryonic growth arrest, death before organogenesis, and impaired embryo turning and somite formation.

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All GO Annotations

29
GO References

10

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

688
Tissues

8
cDNA Data

36
Literature Summary

6

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase sass6

ZFIN sass6

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All Sequences

58
RefSeq

12
UniProt

4
CCDS

CCDS17789.1, CCDS80008.1

Ensembl

ENSMUSG00000027959 (Evidence)
NCBI Gene

72776

			Length	Strain/Species	Flank
genomic	ENSMUSG00000027959	Ensembl Gene Model \| MGI Sequence Detail	36023	C57BL/6J	± kb
transcript	ENSMUST00000198311	Ensembl \| MGI Sequence Detail	2404	Not Applicable
polypeptide	ENSMUSP00000143233	Ensembl \| MGI Sequence Detail	654	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000014465 spindle assembly abnormal protein 6

(term hierarchy)
InterPro Domains

IPR041513 SAS-6 coiled-coil domain

IPR038558 SAS-6, N-terminal domain superfamily

IPR032396 Spindle assembly abnormal protein 6, N-terminal
GlyGen

Q80UK7 4 sites, 1 O-linked glycan (4 sites)

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All nucleic 36

cDNA 36

Microarray probesets 4

Summaries

All 51

Developmental Gene Expression 6

Diseases 1

Gene Ontology 10

Phenotypes 15
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:388001 Park H, et al., The kinesin-4 protein KIF27 forms a cytoskeletal scaffold at the transition zone to promote motile cilia structural integrity. Proc Natl Acad Sci U S A. 2025 Dec 23;122(51):e2515392122

TSS for Sass6:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr31360	Chr3:116388608-116388680 (+)	13 bp
Tssr31361	Chr3:116391836-116391853 (+)	3,214 bp
Tssr31362	Chr3:116391861-116391883 (+)	3,241 bp
Tssr31363	Chr3:116422911-116422915 (+)	34,282 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 09/08/2026 MGI 6.24