Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03133:Eno1'

410420

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL03133

Quality Score

Status

Chromosome

Chromosomal Location

150236721-150248879 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 150245344 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123695 (fasta)

Gene Model

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

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

Validation Efficiency

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	T	C	10: 77,325,896		probably benign	Het
Ano5	C	T	7: 51,576,512	R505*	probably null	Het
Asphd1	A	G	7: 126,948,280	C284R	possibly damaging	Het
Cep192	T	A	18: 67,810,105	W158R	probably benign	Het
Ces2h	T	A	8: 105,016,779	D188E	probably damaging	Het
Dab1	G	A	4: 104,727,580	V306I	probably benign	Het
Dcc	A	G	18: 71,262,955		probably benign	Het
Dennd6b	T	A	15: 89,188,523		probably null	Het
Dmwd	T	A	7: 19,076,637	V123D	probably damaging	Het
Fat2	G	A	11: 55,286,043	T1542I	probably benign	Het
Fcrl1	T	C	3: 87,389,392	S274P	probably benign	Het
Gmpr	T	C	13: 45,517,018	V72A	probably benign	Het
Kank2	T	C	9: 21,795,641	E27G	probably null	Het
Mtor	G	T	4: 148,484,319	A1099S	probably benign	Het
Ofcc1	T	C	13: 40,072,768	I763V	probably benign	Het
Olfr1023	G	T	2: 85,887,134	E111D	probably damaging	Het
Olfr1065	A	G	2: 86,445,658	I108T	probably damaging	Het
Olfr487	G	T	7: 108,212,387	S47R	possibly damaging	Het
Olfr870	T	A	9: 20,170,713	N286I	probably damaging	Het
Piwil1	C	A	5: 128,742,029	H201N	probably benign	Het
Slc26a7	C	T	4: 14,532,576	V433M	possibly damaging	Het
Spata31d1c	T	C	13: 65,034,985	Y114H	probably benign	Het
Stx7	A	T	10: 24,185,038	N221I	probably damaging	Het
Tbc1d31	A	T	15: 57,942,459		probably benign	Het
Ubxn7	T	G	16: 32,381,781	L393R	probably damaging	Het
Vit	A	T	17: 78,566,071	M59L	probably benign	Het
Vmn1r5	T	A	6: 56,985,615	C92S	probably benign	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
B5639:Eno1	UTSW	4	150245112	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

Posted On

2016-08-02