Dnaaf6rt MGI Mouse Gene Detail - MGI:1921958 - dynein axonemal assembly factor 6, retrotransposed

Symbol

Dnaaf6rt
Name

dynein axonemal assembly factor 6, retrotransposed
Synonyms

4930521A18Rik, Dnaaf6, Pih1d3

Feature Type

protein coding gene
IDs

MGI:1921958
NCBI Gene: 74708
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr1:31261920-31263368 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 11.56 cM, cytoband A5
Mapping Data

3 experiments

SNPs within 2kb

28 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1921958	protein coding gene	Chr1:31261919-31263369 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0015899	protein coding gene	Chr1:29464444-29465896 (+)
A/J	MGP_AJ_G0015882	protein coding gene	Chr1:28748547-28749997 (+)
AKR/J	MGP_AKRJ_G0015837	protein coding gene	Chr1:29085204-29086656 (+)
BALB/cJ	MGP_BALBcJ_G0015836	protein coding gene	Chr1:28479289-28480741 (+)
C3H/HeJ	MGP_C3HHeJ_G0015670	protein coding gene	Chr1:29259598-29261048 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0016290	protein coding gene	Chr1:30802131-30803581 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014009	protein coding gene	Chr1:26250961-26252411 (+)
CAST/EiJ	MGP_CASTEiJ_G0015249	protein coding gene	Chr1:29154255-29156755 (+)
CBA/J	MGP_CBAJ_G0015642	protein coding gene	Chr1:31649142-31650580 (+)
DBA/2J	MGP_DBA2J_G0015742	protein coding gene	Chr1:28193051-28194501 (+)
FVB/NJ	MGP_FVBNJ_G0015745	protein coding gene	Chr1:27755804-27757254 (+)
LP/J	MGP_LPJ_G0015813	protein coding gene	Chr1:29733613-29735065 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0015765	protein coding gene	Chr1:33714699-33719736 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0016337	protein coding gene	Chr1:29045333-29046785 (+)
PWK/PhJ	MGP_PWKPhJ_G0015034	protein coding gene	Chr1:27873882-27875579 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0014813	protein coding gene	Chr1:29103882-29105542 (+)
WSB/EiJ	MGP_WSBEiJ_G0015313	protein coding gene	Chr1:29015584-29017034 (+)

Human Ortholog

DNAAF6, dynein axonemal assembly factor 6

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

DNAAF6, dynein axonemal assembly factor 6
Synonyms

CILD36, CXorf41, NYSAR97, PIH1D3, TWISTER
Links

HGNC:28570

NCBI Gene ID: 139212

neXtProt AC: NX_Q9NQM4

UniProt: Q9NQM4
Chr Location

Xq22.3; chrX:107206611-107244247 (+) GRCh38

MGI Vertebrate Homology

Dnaaf6rt stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: DNAAF6
Gene Tree

Dnaaf6rt

Diseases

1 with human DNAAF6 associations

				Human Disease	Mouse Models
				primary ciliary dyskinesia 36 IDs primary ciliary dyskinesia 36 DOID:0111850 OMIM:300991

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

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Phenotype Summary

13 phenotypes from 2 alleles in 1 genetic background
5 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

7
Chemically induced (other)

1
Targeted

6
Genomic Mutations

1 involving Dnaaf6rt
Incidental Mutations

APF , CvDC
Find Mice (IMSR)

19 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele develop normally but display male infertility associated with asthenozoospermia and abnormal sperm flagellum morphology.

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All GO Annotations

25
GO References

4

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	non-membrane-bounded 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

743
Tissues

14
cDNA Data

6
Literature Summary

1

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase dnaaf6

ZFIN dnaaf6

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All Sequences

28
RefSeq

2
UniProt

1
CCDS

CCDS35531.1

Ensembl

ENSMUSG00000026063 (Evidence)
NCBI Gene

74708

			Length	Strain/Species	Flank
genomic	74708	NCBI Gene Model \| MGI Sequence Detail	1449	C57BL/6J	± kb
transcript	NM_029062	RefSeq \| MGI Sequence Detail	1449	C57BL/6
polypeptide	Q3KNI6	UniProt \| EBI \| MGI Sequence Detail	218	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000031639 dynein axonemal assembly factor 6

(term hierarchy)
InterPro Domains

IPR026697 Dynein axonemal assembly factor 6

IPR041442 PIH1D1/2/3, CS-like domain

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All nucleic 7

cDNA 6

Primer pair 1

Microarray probesets 2

Summaries

All 26

Developmental Gene Expression 1

Gene Ontology 4

Phenotypes 5
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:208266 Dong F, et al., Pih1d3 is required for cytoplasmic preassembly of axonemal dynein in mouse sperm. J Cell Biol. 2014 Jan 20;204(2):203-13

TSS for Dnaaf6rt:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr6143	Chr1:31261863-31261873 (+)	-52 bp
Tssr6144	Chr1:31261889-31261902 (+)	-24 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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