Mamld1 MGI Mouse Gene Detail - MGI:3045303 - mastermind-like domain containing 1

Symbol

Mamld1
Name

mastermind-like domain containing 1
Synonyms

G630014P10Rik

Feature Type

protein coding gene
IDs

MGI:3045303
NCBI Gene: 333639
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

ChrX:70093846-70199662 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome X, 36.33 cM
Mapping Data

1 experiment

SNPs within 2kb

2043 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_3045303	protein coding gene	ChrX:70093642-70199662 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0035780	protein coding gene	ChrX:66682271-66788487 (+)
A/J	MGP_AJ_G0035763	protein coding gene	ChrX:66888452-67000371 (+)
AKR/J	MGP_AKRJ_G0035685	protein coding gene	ChrX:68720715-68830783 (+)
BALB/cJ	MGP_BALBcJ_G0035750	protein coding gene	ChrX:66003027-66109390 (+)
C3H/HeJ	MGP_C3HHeJ_G0035453	protein coding gene	ChrX:67171165-67280492 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0036280	protein coding gene	ChrX:68720929-68828239 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0033129	protein coding gene	ChrX:66178626-66281546 (+)
CAST/EiJ	MGP_CASTEiJ_G0034745	protein coding gene	ChrX:52595863-52703470 (+)
CBA/J	MGP_CBAJ_G0035428	protein coding gene	ChrX:70630196-70738362 (+)
DBA/2J	MGP_DBA2J_G0035581	protein coding gene	ChrX:66433699-66539914 (+)
FVB/NJ	MGP_FVBNJ_G0035532	protein coding gene	ChrX:65796050-65903765 (+)
LP/J	MGP_LPJ_G0035670	protein coding gene	ChrX:67510822-67621749 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0035567	protein coding gene	ChrX:73147758-73271300 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0036301	protein coding gene	ChrX:66535313-66641852 (+)
PWK/PhJ	MGP_PWKPhJ_G0034445	protein coding gene	ChrX:50627831-50736320 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0034281	protein coding gene	ChrX:53485225-53597661 (+)
WSB/EiJ	MGP_WSBEiJ_G0034887	protein coding gene	ChrX:65882642-65991639 (+)

Human Ortholog

MAMLD1, mastermind like domain containing 1

Vertebrate Orthologs

1

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

MAMLD1, mastermind like domain containing 1
Synonyms

CG1, CXorf6, F18, HYSP2
Links

HGNC:2568

NCBI Gene ID: 10046

neXtProt AC: NX_Q13495

UniProt: Q13495
Chr Location

Xq28; chrX:150361422-150514178 (+) GRCh38

MGI Vertebrate Homology

Mamld1 stringent orthology
1 human;1 mouse
HCOP

vertebrate homology predictions: MAMLD1
Gene Tree

Mamld1

Diseases

1 with human MAMLD1 associations

				Human Disease	Mouse Models
				hypospadias IDs hypospadias DOID:10892 ICD10CM:Q54 MESH:D007021 NCI:C40341 OMIM:146450 OMIM:300633 OMIM:300758 OMIM:300856 ORDO:440 UMLS_CUI:C0848558

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

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Phenotype Summary

11 phenotypes from 2 alleles in 2 genetic backgrounds
8 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

5
Endonuclease-mediated

2
Targeted

3
Find Mice (IMSR)

7 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Male mice exhibit normal male genitalia and fertility.

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All GO Annotations

11
GO References

4

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

831
Tissues

32
cDNA Data

13
Literature Summary

5

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

50
RefSeq

12
UniProt

6
CCDS

CCDS57759.1, CCDS57760.1

Ensembl

ENSMUSG00000059401 (Evidence)
NCBI Gene

333639

			Length	Strain/Species	Flank
genomic	ENSMUSG00000059401	Ensembl Gene Model \| MGI Sequence Detail	105817	C57BL/6J	± kb
transcript	ENSMUST00000082088	Ensembl \| MGI Sequence Detail	4796	Not Applicable
polypeptide	ENSMUSP00000080737	Ensembl \| MGI Sequence Detail	803	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000032307 mastermind-like domain-containing protein 1

(term hierarchy)
InterPro Domains

IPR026131 Mastermind-like domain-containing protein 1
GlyGen

P0C6A2 2 sites, 1 O-linked glycan (2 sites)

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All nucleic 14

cDNA 13

Primer pair 1

Microarray probesets 1

Summaries

All 30

Developmental Gene Expression 5

Gene Ontology 4

Phenotypes 8
Earliest

J:116501 Fukami M, et al., CXorf6 is a causative gene for hypospadias. Nat Genet. 2006 Dec;38(12):1369-71
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Mamld1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr161155	ChrX:70093671-70093731 (+)	-145 bp
Tssr161156	ChrX:70093732-70093750 (+)	-105 bp
Tssr161157	ChrX:70093766-70093777 (+)	-74 bp
Tssr161158	ChrX:70123545-70123552 (+)	29,703 bp
Tssr161159	ChrX:70162286-70162289 (+)	68,442 bp
Tssr161160	ChrX:70162547-70162556 (+)	68,706 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 11/12/2024 MGI 6.24