Mutagenetix > Incidental Mutations

Incidental Mutation 'B5639:Eno1'

553

Institutional Source

Beutler Lab

Gene Symbol

Eno1

Ensembl Gene

ENSMUSG00000063524

Gene Name

enolase 1, alpha non-neuron

Synonyms

alpha-enolase, 2-phospho-D-glycerate hydrolase, Eno-1, MBP-1, c-Myc promoter binding protein

Accession Numbers

Genbank: NM_023119

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

B5639 of strain 3d

Quality Score

Status

Validated

Chromosome

Chromosomal Location

150236721-150248879 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 150245112 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123695 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080149] [ENSMUST00000080926] [ENSMUST00000133839] [ENSMUST00000141931] [ENSMUST00000150175]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000080149

SMART Domains

Protein: ENSMUSP00000079045
Gene: ENSMUSG00000063524

Domain	Start	End	E-Value	Type
Enolase_N	1	66	2.91e-6	SMART
Enolase_C	74	363	1.22e-207	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000080926

SMART Domains

Protein: ENSMUSP00000079727
Gene: ENSMUSG00000063524

Domain	Start	End	E-Value	Type
Enolase_N	3	134	4.75e-91	SMART
Enolase_C	142	431	1.22e-207	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130632

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133789

Predicted Effect

probably benign
Transcript: ENSMUST00000133839

SMART Domains

Protein: ENSMUSP00000114361
Gene: ENSMUSG00000063524

Domain	Start	End	E-Value	Type
Enolase_N	3	134	7.66e-86	SMART
Enolase_C	142	221	2e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135063

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136310

Predicted Effect

probably benign
Transcript: ENSMUST00000141931

SMART Domains

Protein: ENSMUSP00000120059
Gene: ENSMUSG00000063524

Domain	Start	End	E-Value	Type
Enolase_N	3	67	6.31e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000150175

SMART Domains

Protein: ENSMUSP00000123695
Gene: ENSMUSG00000063524

Domain	Start	End	E-Value	Type
Enolase_N	3	119	2.31e-71	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151057

Coding Region Coverage

1x: 89.7%
3x: 78.3%

Het Detection Efficiency

55.9%

Validation Efficiency

83% (206/248)

MGI Phenotype

PHENOTYPE: Homozygous animals exhibit growth arrest and embryonic lethality at approximately E6.5. [provided by MGI curators]

Allele List at MGI

All alleles(59) : Targeted, knock-out(1) Gene trapped(58)

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Dnmt1	G	A	9: 20,907,968		probably benign	Het
Ercc8	G	A	13: 108,160,723	G56R	probably damaging	Homo
Gm8773	C	T	5: 5,574,060		probably benign	Homo
Idh1	A	G	1: 65,165,098		probably null	Homo
Incenp	G	A	19: 9,893,818	T149I	unknown	Het
Olfr1155	G	A	2: 87,943,598	S10F	probably benign	Het
Olfr181	A	T	16: 58,926,526	I15K	probably benign	Homo
Pdk2	T	C	11: 95,032,498	D100G	possibly damaging	Homo
Prss56	T	C	1: 87,187,170	L465P	probably benign	Homo
Slc10a3	G	A	X: 74,369,539	P416L	probably damaging	Homo
Syne2	C	A	12: 75,929,790	T1243K	probably benign	Het
Vwf	T	C	6: 125,642,984	Y1542H	probably damaging	Homo
Zc3h13	G	A	14: 75,316,039	R302Q	probably damaging	Het
Zfhx4	G	T	3: 5,403,175	G2798W	probably damaging	Homo
Zfp667	A	G	7: 6,290,545	T15A	probably damaging	Het

Other mutations in Eno1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01767:Eno1	APN	4	150246710	missense	probably benign	0.03
IGL01992:Eno1	APN	4	150239536	missense	probably damaging	1.00
IGL03114:Eno1	APN	4	150241126	missense	probably benign	0.01
IGL03133:Eno1	APN	4	150245344	unclassified	probably benign
R1387:Eno1	UTSW	4	150248133	unclassified	probably benign
R1957:Eno1	UTSW	4	150246775	splice site	probably null
R3835:Eno1	UTSW	4	150246662	missense	probably benign	0.08
R3925:Eno1	UTSW	4	150239568	critical splice donor site	probably null
R4178:Eno1	UTSW	4	150244033	missense	possibly damaging	0.94
R5577:Eno1	UTSW	4	150246610	nonsense	probably null
R5790:Eno1	UTSW	4	150245253	missense	probably benign	0.01
R6369:Eno1	UTSW	4	150239568	critical splice donor site	probably null
R6377:Eno1	UTSW	4	150248552	missense	possibly damaging	0.78
R7305:Eno1	UTSW	4	150245339	critical splice donor site	probably null
R8116:Eno1	UTSW	4	150241069	missense	probably damaging	0.97
R8342:Eno1	UTSW	4	150245236	missense	probably damaging	1.00
R9203:Eno1	UTSW	4	150248082	nonsense	probably null

Nature of Mutation

DNA sequencing using the SOLiD technique identified an A to G transition at base pair 149619221 in the Genbank genomic region NC_000070 (Build 37.1) for the Eno1 gene on Chromosome 4 (CTTCTCCAAG ->CTTCTCCGAG). The mutation is located within intron 5 from the ATG exon, three nucleotides to the next exon. The Eno1 gene contains 12 total exons using Genbank record NM_023119. Multiple transcripts of the Eno1gene are displayed on Ensembl and Vega. The mutation has been confirmed by DNA sequencing using the Sanger method (see trace files for B5639).

Protein Function and Prediction

The Eno1 gene encodes the 434 amino acid alpha-enolase. Enolase is a glycolytic enzyme (2-phospho-D-glycerate hydrolyase) and is a mulltifunctional enzyme involved in growth control, hypoxia tolerance and allergic responses. The protein serves as a receptor and activator of plasminogen on the cell surface of several cell-types such as leukocytes and neurons, and stimulates immunoglobulin production. The enolase isoforms can form homodimers or heterodimers that are cell-type and development-specific (Uniprot P17182). Homozygous knockout mice exhibit growth arrest and embryonic lethality at approximately E6.5.

Posted On

2010-11-19