Tsen54 MGI Mouse Gene Detail - MGI:1923515 - tRNA splicing endonuclease subunit 54

Symbol

Tsen54
Name

tRNA splicing endonuclease subunit 54
Synonyms

0610034P02Rik

Feature Type

protein coding gene
IDs

MGI:1923515
NCBI Gene: 76265
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr11:115705550-115713920 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 80.91 cM, cytoband E2
Mapping Data

2 experiments

SNPs within 2kb

263 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1923515	protein coding gene	Chr11:115704563-115713928 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0019401	protein coding gene	Chr11:119885336-119893410 (+)
A/J	MGP_AJ_G0019370	protein coding gene	Chr11:114638778-114647179 (+)
AKR/J	MGP_AKRJ_G0019340	protein coding gene	Chr11:118061373-118070061 (+)
BALB/cJ	MGP_BALBcJ_G0019344	protein coding gene	Chr11:115056004-115065977 (+)
C3H/HeJ	MGP_C3HHeJ_G0019150	protein coding gene	Chr11:118409220-118417269 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0019794	protein coding gene	Chr11:123545116-123555980 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017417	protein coding gene	Chr11:111662692-111670989 (+)
CAST/EiJ	MGP_CASTEiJ_G0018705	protein coding gene	Chr11:119750517-119758302 (+)
CBA/J	MGP_CBAJ_G0019122	protein coding gene	Chr11:128433450-128441831 (+)
DBA/2J	MGP_DBA2J_G0019233	protein coding gene	Chr11:114064728-114073214 (+)
FVB/NJ	MGP_FVBNJ_G0019225	protein coding gene	Chr11:113563106-113571137 (+)
LP/J	MGP_LPJ_G0019303	protein coding gene	Chr11:120263192-120274184 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019258	protein coding gene	Chr11:127545520-127554718 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0019832	protein coding gene	Chr11:118711821-118722449 (+)
PWK/PhJ	MGP_PWKPhJ_G0018469	protein coding gene	Chr11:115376070-115384756 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0018262	protein coding gene	Chr11:118459741-118469827 (+)
WSB/EiJ	MGP_WSBEiJ_G0018757	protein coding gene	Chr11:118674164-118684028 (+)

Human Ortholog

TSEN54, tRNA splicing endonuclease subunit 54

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

TSEN54, tRNA splicing endonuclease subunit 54
Synonyms

PCH2A, PCH4, PCH5, sen54, SEN54L
Links

HGNC:27561

NCBI Gene ID: 283989

neXtProt AC: NX_Q7Z6J9

UniProt: Q7Z6J9
Chr Location

17q25.1; chr17:75515944-75524735 (+) GRCh38

MGI Vertebrate Homology

Tsen54 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: TSEN54
Gene Tree

Tsen54

Diseases

3 with human TSEN54 associations

				Human Disease	Mouse Models
				pontocerebellar hypoplasia type 2A IDs pontocerebellar hypoplasia type 2A DOID:0060267 MESH:C564738 OMIM:277470 ORDO:2524 UMLS_CUI:C1848526
				pontocerebellar hypoplasia type 4 IDs pontocerebellar hypoplasia type 4 DOID:0060273 MESH:C536716 OMIM:225753 ORDO:166063 UMLS_CUI:C1856974
				pontocerebellar hypoplasia type 5 IDs pontocerebellar hypoplasia type 5 DOID:0060274 MESH:C537745 OMIM:610204 ORDO:166068 UMLS_CUI:C1857762

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

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Phenotype Summary

6 phenotypes from 2 alleles in 2 genetic backgrounds
1 images
11 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
Endonuclease-mediated

1
Gene trapped

1
Targeted

5
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

37 strains or lines available

Homozygous knockout is early embryonic lethal. Mice homozygous for a knock-out allele show complete embryonic lethality prior to organogenesis. In vitro, embryos fail to hatch from the zona pellucida and die after 3 days in culture.

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All GO Annotations

6
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

717
Tissues

6
cDNA Data

36
Literature Summary

2

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase tsen54

ZFIN tsen54

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All Sequences

65
RefSeq

12
UniProt

5
CCDS

CCDS25648.1

Ensembl

ENSMUSG00000020781 (Evidence)
NCBI Gene

76265

			Length	Strain/Species	Flank
genomic	ENSMUSG00000020781	Ensembl Gene Model \| MGI Sequence Detail	8371	C57BL/6J	± kb
transcript	ENSMUST00000021134	Ensembl \| MGI Sequence Detail	1979	Not Applicable
polypeptide	ENSMUSP00000021134	Ensembl \| MGI Sequence Detail	525	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000016717 tRNA-splicing endonuclease subunit Sen54

(term hierarchy)
InterPro Domains

IPR024337 tRNA-splicing endonuclease, subunit Sen54

IPR024336 tRNA-splicing endonuclease, subunit Sen54, N-terminal

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All nucleic 37

cDNA 37

Microarray probesets 3

Summaries

All 37

Developmental Gene Expression 2

Gene Ontology 5

Phenotypes 11
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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Tsen54:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr105905	Chr11:115705102-115705105 (+)	-446 bp
Tssr105906	Chr11:115705558-115705604 (+)	31 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 12/10/2024 MGI 6.24