Knl1 MGI Mouse Gene Detail - MGI:1923714

Symbol

Knl1
Name

kinetochore scaffold 1
Synonyms

2310043D08Rik, 5730505K17Rik, Casc5

Feature Type

protein coding gene
IDs

MGI:1923714
NCBI Gene: 76464
Alliance

gene page
Transcription Start Sites

4 TSS

Sequence Map

Chr2:118877600-118935982 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 59.85 cM, cytoband E5
Mapping Data

2 experiments

SNPs within 2kb

1304 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1923714	protein coding gene	Chr2:118877600-118940978 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0026330	protein coding gene	Chr2:121778642-121838100 (+)
A/J	MGP_AJ_G0026291	protein coding gene	Chr2:116819635-116879967 (+)
AKR/J	MGP_AKRJ_G0026270	protein coding gene	Chr2:120090846-120150524 (+)
BALB/cJ	MGP_BALBcJ_G0026304	protein coding gene	Chr2:117084771-117144143 (+)
C3H/HeJ	MGP_C3HHeJ_G0026050	protein coding gene	Chr2:120560608-120622128 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0026751	protein coding gene	Chr2:125773902-125840258 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024131	protein coding gene	Chr2:111873025-111932962 (+)
CAST/EiJ	MGP_CASTEiJ_G0025512	protein coding gene	Chr2:120862524-120921799 (+)
CBA/J	MGP_CBAJ_G0026026	protein coding gene	Chr2:130204649-130267854 (+)
DBA/2J	MGP_DBA2J_G0026165	protein coding gene	Chr2:116247527-116307495 (+)
FVB/NJ	MGP_FVBNJ_G0026127	protein coding gene	Chr2:115067198-115126781 (+)
LP/J	MGP_LPJ_G0026266	protein coding gene	Chr2:122089610-122153341 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026146	protein coding gene	Chr2:134572507-134635553 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0026806	protein coding gene	Chr2:120215159-120275779 (+)
PWK/PhJ	MGP_PWKPhJ_G0025248	protein coding gene	Chr2:115801150-115860462 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0025047	protein coding gene	Chr2:119396807-119460560 (+)
WSB/EiJ	MGP_WSBEiJ_G0025581	protein coding gene	Chr2:121043946-121104767 (+)

Human Ortholog

KNL1, kinetochore scaffold 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

KNL1, kinetochore scaffold 1
Synonyms

AF15Q14, CASC5, CT29, D40, hKNL-1, hSpc105, MCPH4, PPP1R55, Spc7
Links

HGNC:24054

NCBI Gene ID: 57082

neXtProt AC: NX_Q8NG31

UniProt: Q8NG31
Chr Location

15q15.1; chr15:40594020-40664342 (+) GRCh38

MGI Vertebrate Homology

Knl1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: KNL1
Gene Tree

Knl1

Diseases

3 with human KNL1 associations

				Human Disease	Mouse Models
				primary autosomal recessive microcephaly IDs primary autosomal recessive microcephaly DOID:0070296 OMIM:PS251200 ORDO:2512
				primary autosomal recessive microcephaly 4 IDs primary autosomal recessive microcephaly 4 DOID:0070291 OMIM:604321
				sarcoma IDs sarcoma DOID:1115 DOID:3936 ICD10CM:C49 ICD9CM:171 ICD9CM:171.9 UMLS_CUI:C0153519

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

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Phenotype Summary

19 phenotypes from 4 alleles in 5 genetic backgrounds
6 phenotypes from multigenic genotypes
17 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

35
Chemically induced (ENU)

1
Chemically induced (other)

1
Endonuclease-mediated

5
Gene trapped

22
Radiation induced

1
Targeted

4
Transgenic

1
Genomic Mutations

2 involving Knl1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

104 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E6. Mice homozygous for a conditional allele activated in NPCs exhibit postnatal and premature death and microcephaly associated with NPC apoptosis and premature differentiation.

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All GO Annotations

23
GO References

9

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

728
Tissues

3
cDNA Data

14
Literature Summary

4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase knl1

ZFIN knl1

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All Sequences

54
RefSeq

8
UniProt

5
CCDS

CCDS38203.1, CCDS89540.1

Ensembl

ENSMUSG00000027326 (Evidence)
NCBI Gene

76464

			Length	Strain/Species	Flank
genomic	ENSMUSG00000027326	Ensembl Gene Model \| MGI Sequence Detail	58383	C57BL/6J	± kb
transcript	ENSMUST00000028802	Ensembl \| MGI Sequence Detail	7800	Not Applicable
polypeptide	ENSMUSP00000028802	Ensembl \| MGI Sequence Detail	2119	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000005050 kinetochore scaffold 1

(term hierarchy)
InterPro Domains

IPR037388 Kinetochore scaffold 1

IPR040850 Knl1, C-terminal RWD domain

IPR043651 KNL1 MELT repeat

IPR027417 P-loop containing nucleoside triphosphate hydrolase
GlyGen

Q66JQ7 2 sites, 1 O-linked glycan (2 sites)

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All nucleic 15

cDNA 14

Primer pair 1

Microarray probesets 4

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MGI:1917873

Summaries

All 48

Developmental Gene Expression 4

Gene Ontology 9

Phenotypes 17
Earliest

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

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

TSS for Knl1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr19599	Chr2:118877597-118877602 (+)	0 bp
Tssr19600	Chr2:118877610-118877640 (+)	25 bp
Tssr19601	Chr2:118877643-118877695 (+)	69 bp
Tssr19602	Chr2:118877857-118877869 (+)	263 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 11/19/2024 MGI 6.24