Rsph6a MGI Mouse Gene Detail - MGI:1927643 - radial spoke head 6 homolog A (Chlamydomonas)

Symbol

Rsph6a
Name

radial spoke head 6 homolog A (Chlamydomonas)
Synonyms

Rshl1, RSP4

Feature Type

protein coding gene
IDs

MGI:1927643
NCBI Gene: 83434
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr7:18788615-18808372 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 7, 9.46 cM, cytoband A2
Mapping Data

1 experiment

SNPs within 2kb

583 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1927643	protein coding gene	Chr7:18788603-18808384 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0031755	protein coding gene	Chr7:17001661-17025321 (+)
A/J	MGP_AJ_G0031731	protein coding gene	Chr7:16695243-16714707 (+)
AKR/J	MGP_AKRJ_G0031657	protein coding gene	Chr7:17153150-17173690 (+)
BALB/cJ	MGP_BALBcJ_G0031736	protein coding gene	Chr7:16888031-16907416 (+)
C3H/HeJ	MGP_C3HHeJ_G0031458	protein coding gene	Chr7:17406033-17432689 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0032202	protein coding gene	Chr7:17893066-17917913 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0029268	protein coding gene	Chr7:18340155-18362974 (+)
CAST/EiJ	MGP_CASTEiJ_G0030801	protein coding gene	Chr7:13811566-13833591 (+)
CBA/J	MGP_CBAJ_G0031420	protein coding gene	Chr7:18537227-18561207 (+)
DBA/2J	MGP_DBA2J_G0031575	protein coding gene	Chr7:16630349-16650067 (+)
FVB/NJ	MGP_FVBNJ_G0031527	protein coding gene	Chr7:16492108-16513882 (+)
LP/J	MGP_LPJ_G0031658	protein coding gene	Chr7:17345291-17370697 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0031563	protein coding gene	Chr7:18402745-18429549 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0032230	protein coding gene	Chr7:16754652-16779162 (+)
PWK/PhJ	MGP_PWKPhJ_G0030525	protein coding gene	Chr7:13713717-13738423 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0030352	protein coding gene	Chr7:11439503-11463806 (+)
WSB/EiJ	MGP_WSBEiJ_G0030901	protein coding gene	Chr7:16959599-16979968 (+)

Human Ortholog

RSPH6A, radial spoke head 6 homolog A

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

RSPH6A, radial spoke head 6 homolog A
Synonyms

RSHL1, RSP4, RSP6, RSPH4B
Links

HGNC:14241

NCBI Gene ID: 81492

neXtProt AC: NX_Q9H0K4

UniProt: Q9H0K4
Chr Location

19q13.32; chr19:45795713-45815308 (-) GRCh38

MGI Vertebrate Homology

Rsph6a stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: RSPH6A
Gene Tree

Rsph6a

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Phenotype Summary

9 phenotypes from 2 alleles in 1 genetic background
2 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

3
Endonuclease-mediated

3
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

36 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Male mice homozygous for a null mutation display infertility with immotile sperm, and abnormal sperm heads and tails.

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All GO Annotations

20
GO References

6

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

706
cDNA Data

10

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase rsph6a

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All Sequences

41
RefSeq

10
UniProt

2
CCDS

CCDS20887.1, CCDS52052.1

Ensembl

ENSMUSG00000040866 (Evidence)
NCBI Gene

83434

			Length	Strain/Species	Flank
genomic	ENSMUSG00000040866	Ensembl Gene Model \| MGI Sequence Detail	19758	C57BL/6J	± kb
transcript	ENSMUST00000035521	Ensembl \| MGI Sequence Detail	2354	Not Applicable
polypeptide	ENSMUSP00000046526	Ensembl \| MGI Sequence Detail	708	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000014323 radial spoke head protein 6 homolog A

(term hierarchy)
InterPro Domains

IPR006802 Radial spokehead-like protein

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All nucleic 10

cDNA 10

Microarray probesets 2

Summaries

All 21

Gene Ontology 6

Phenotypes 2
Earliest

J:67997 Eriksson M, et al., A Mammalian Radial Spokehead-Like Gene, RSHL1, at the Myotonic Dystrophy-1 Locus. Biochem Biophys Res Commun. 2001 Mar 9;281(4):835-41
Latest

J:332237 Zhang X, et al., Differential requirements of IQUB for the assembly of radial spoke 1 and the motility of mouse cilia and flagella. Cell Rep. 2022 Nov 22;41(8):111683

TSS for Rsph6a:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr64772	Chr7:18788587-18788599 (+)	-22 bp
Tssr64773	Chr7:18788608-18788632 (+)	5 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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