Sack1h MGI Mouse Gene Detail - MGI:2145900 - scaffolding CK1 anchoring protein H

Symbol

Sack1h
Name

scaffolding CK1 anchoring protein H
Synonyms

Fam83h

Feature Type

protein coding gene
IDs

MGI:2145900
NCBI Gene: 105732
Alliance

genome feature page
Transcription Start Sites

4 TSS

Sequence Map

Chr15:75872942-75886185 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 15, 35.22 cM
Mapping Data

1 experiment

SNPs within 2kb

277 from dbSNP Build 142
Strain Annotations

19

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2145900	protein coding gene	Chr15:75872941-75886185 (-)
129S1/SvImJ	ENSMUSG00200049008	protein coding gene	Chr15:72990437-73003680 (-)
A/J	ENSMUSG00195047470	protein coding gene	Chr15:72964858-72978101 (-)
AKR/J	ENSMUSG00220048173	protein coding gene	Chr15:72975909-72989152 (-)
BALB/cJ	ENSMUSG00180049513	protein coding gene	Chr15:72791585-72804829 (-)
C3H/HeJ	ENSMUSG00175047666	protein coding gene	Chr15:73153462-73166705 (-)
C57BL/6NJ	ENSMUSG00215051219	protein coding gene	Chr15:72882010-72895255 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0019907	protein coding gene	Chr15:69954502-69967723 (-)
CAST/EiJ	ENSTCUG00005037975	protein coding gene	Chr15:72499290-72512544 (-)
CBA/J	ENSMUSG00210046493	protein coding gene	Chr15:72928728-72941971 (-)
DBA/2J	ENSMUSG00185042923	protein coding gene	Chr15:72907445-72920689 (-)
FVB/NJ	ENSMUSG00205027681	protein coding gene	Chr15:72658143-72671388 (-)
JF1/MsJ	ENSUMUG00000055235	protein coding gene	Chr15:72565328-72578572 (-)
LP/J	ENSMUSG00230051507	protein coding gene	Chr15:76271417-76284660 (-)
NOD/ShiLtJ	ENSMUSG00190037463	protein coding gene	Chr15:72911087-72924328 (-)
NZO/HlLtJ	ENSMUSG00225049243	protein coding gene	Chr15:76575934-76589176 (-)
PWK/PhJ	ENSLUMG00010047819	protein coding gene	Chr15:72846272-72859514 (-)
SPRET/EiJ	ENSMSPG00010048268	protein coding gene	Chr15:74457981-74471100 (-)
WSB/EiJ	ENSIUOG00005043749	protein coding gene	Chr15:72968179-72981421 (-)

Human Ortholog

SACK1H, scaffolding CK1 anchoring protein H

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SACK1H, scaffolding CK1 anchoring protein H
Synonyms

AI3, AI3A, FAM83H
Links

HGNC:24797

NCBI Gene ID: 286077

UniProt: Q6ZRV2
Chr Location

8q24.3; chr8:143723933-143740732 (-) GRCh38

MGI Vertebrate Homology

Sack1h stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: SACK1H
Gene Tree

Sack1h

Diseases

1 with human SACK1H associations

				Human Disease	Mouse Models
				amelogenesis imperfecta type 3A IDs amelogenesis imperfecta type 3A DOID:0110055 ICD10CM:K00.5 OMIM:130900

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

References

1 with disease annotations

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Phenotype Summary

12 phenotypes from 1 allele in 1 genetic background
36 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

24
Chemically induced (other)

3
Endonuclease-mediated

6
Gene trapped

11
Radiation induced

2
Targeted

2
Genomic Mutations

5 involving Sack1h
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

50 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit decreased body size, sparse and scruffy coat, scaly skin, weakness, hypoactivity, delayed incisor eruption, periodontal pockets around incisors and molars with inserted coat hairs, partial postnatal lethality and premature death.

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All GO Annotations

28
GO References

5

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

638
Tissues

30
cDNA Data

13
Literature Summary

4

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase sack1h

ZFIN sack1ha

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All Sequences

53
RefSeq

8
UniProt

2
CCDS

CCDS27559.1

Ensembl

ENSMUSG00000046761 (Evidence)
NCBI Gene

105732

			Length	Strain/Species	Flank
genomic	ENSMUSG00000046761	Ensembl Gene Model \| MGI Sequence Detail	13244	C57BL/6J	± kb
transcript	ENSMUST00000238313	Ensembl \| MGI Sequence Detail	4994	Not Applicable
polypeptide	ENSMUSP00000158845	Ensembl \| MGI Sequence Detail	1409	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000029486 protein FAM83H

(term hierarchy)
InterPro Domains

IPR041996 FAM83H, N-terminal phospholipase D-like domain

IPR050944 Family with sequence similarity 83 (FAM83)

IPR012461 Scaffolding anchor of CK1 domain
GlyGen

Q148V8 6 sites, 1 O-linked glycan (1 site)

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All nucleic 14

cDNA 13

Primer pair 1

Antibodies 1

Microarray probesets 4

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MGI:8327521

Summaries

All 63

Developmental Gene Expression 4

Diseases 1

Gene Ontology 5

Phenotypes 36
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

J:387680 Ahn B, et al., Disorganization of Transcriptional Regulation and Alteration of Keratin Family Gene Expression in Hairy Ear Mice. Genes (Basel). 2026 Jan 31;17(2)

TSS for Sack1h:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr134896	Chr15:75886167-75886195 (-)	4 bp
Tssr134895	Chr15:75885471-75885476 (-)	711 bp
Tssr134894	Chr15:75885021-75885032 (-)	1,158 bp
Tssr134893	Chr15:75881289-75881328 (-)	4,876 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 09/01/2026 MGI 6.24