Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03114:Eno1'

419342

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eno1

Ensembl Gene

ENSMUSG00000063524

Gene Name

enolase 1, alpha non-neuron

Synonyms

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03114

Quality Score

Status

Chromosome

Chromosomal Location

150321178-150333336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 150325583 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 56 (R56H)

Ref Sequence

ENSEMBL: ENSMUSP00000120059 (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
AA Change: R56H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000079727
Gene: ENSMUSG00000063524
AA Change: R56H

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

probably benign
Transcript: ENSMUST00000133839
AA Change: R56H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000114361
Gene: ENSMUSG00000063524
AA Change: R56H

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

probably benign
Transcript: ENSMUST00000141931
AA Change: R56H

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000120059
Gene: ENSMUSG00000063524
AA Change: R56H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148605

Predicted Effect

probably benign
Transcript: ENSMUST00000150175
AA Change: R56H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000123695
Gene: ENSMUSG00000063524
AA Change: R56H

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

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	A	T	3: 59,651,144 (GRCm39)	I89F	possibly damaging	Het
Abca13	T	A	11: 9,478,999 (GRCm39)	H4282Q	probably benign	Het
Acta2	A	G	19: 34,222,310 (GRCm39)		probably null	Het
Arl10	A	G	13: 54,723,579 (GRCm39)		probably benign	Het
Avpr1a	A	G	10: 122,285,623 (GRCm39)	Y305C	probably damaging	Het
Bmpr2	T	A	1: 59,906,603 (GRCm39)	N565K	probably damaging	Het
Boc	A	T	16: 44,307,115 (GRCm39)	S1035R	probably benign	Het
Brd10	A	T	19: 29,694,532 (GRCm39)	S1654T	probably benign	Het
Ccdc7a	T	C	8: 129,753,170 (GRCm39)	N187S	possibly damaging	Het
Cntn5	C	T	9: 9,748,457 (GRCm39)	E680K	probably damaging	Het
Copa	T	A	1: 171,946,835 (GRCm39)	Y1014*	probably null	Het
Csmd3	A	G	15: 47,683,847 (GRCm39)	S1662P	probably damaging	Het
Cyp2e1	T	C	7: 140,353,042 (GRCm39)	F360L	possibly damaging	Het
Efnb3	A	T	11: 69,447,628 (GRCm39)		probably benign	Het
Egf	A	T	3: 129,530,529 (GRCm39)	L211Q	probably damaging	Het
Fyb2	A	G	4: 104,852,975 (GRCm39)	T552A	probably damaging	Het
Git2	G	A	5: 114,871,918 (GRCm39)		probably benign	Het
Gtf2ird2	A	G	5: 134,245,752 (GRCm39)		probably null	Het
Hyal4	A	T	6: 24,755,964 (GRCm39)	I61L	probably benign	Het
Kat14	T	C	2: 144,217,885 (GRCm39)		probably null	Het
Kif13b	T	C	14: 65,025,897 (GRCm39)	V1418A	probably benign	Het
Lcn12	T	C	2: 25,383,274 (GRCm39)	K35E	probably benign	Het
Lyrm7	G	T	11: 54,741,198 (GRCm39)	N45K	possibly damaging	Het
Mical2	G	T	7: 111,996,764 (GRCm39)	G559V	probably damaging	Het
Mtrr	A	T	13: 68,712,441 (GRCm39)	C648*	probably null	Het
Muc5b	C	A	7: 141,412,556 (GRCm39)	S1834*	probably null	Het
Mup16	G	A	4: 61,436,250 (GRCm39)	T101M	probably benign	Het
Myof	A	T	19: 37,892,309 (GRCm39)	L1148Q	probably damaging	Het
Nags	A	T	11: 102,039,814 (GRCm39)	I501F	probably damaging	Het
Nbeal1	A	T	1: 60,317,886 (GRCm39)	Y672F	probably damaging	Het
Ncapg2	A	G	12: 116,415,993 (GRCm39)		probably benign	Het
Obscn	A	G	11: 58,891,365 (GRCm39)	S7056P	unknown	Het
Or52s1	T	C	7: 102,861,928 (GRCm39)	I287T	probably damaging	Het
Pde2a	C	A	7: 101,157,890 (GRCm39)		probably benign	Het
Piezo2	T	C	18: 63,163,343 (GRCm39)		probably null	Het
Pkhd1	C	A	1: 20,268,395 (GRCm39)	D3328Y	probably damaging	Het
Plxdc2	T	C	2: 16,654,935 (GRCm39)	V178A	probably damaging	Het
Prdx3	T	C	19: 60,861,556 (GRCm39)		probably benign	Het
Prkce	T	A	17: 86,961,983 (GRCm39)	D694E	probably damaging	Het
Prss1l	T	A	6: 41,374,012 (GRCm39)	C205S	probably damaging	Het
Ptdss1	T	A	13: 67,142,058 (GRCm39)	Y405*	probably null	Het
Rad54l	A	T	4: 115,955,729 (GRCm39)	W608R	probably damaging	Het
Rassf6	G	T	5: 90,756,649 (GRCm39)		probably benign	Het
Sema5a	A	T	15: 32,673,573 (GRCm39)	I804F	probably damaging	Het
Slc15a2	A	T	16: 36,572,267 (GRCm39)	I668N	probably damaging	Het
Thsd7b	A	G	1: 130,116,288 (GRCm39)	E1347G	probably benign	Het
Tmco3	T	C	8: 13,348,205 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,551,996 (GRCm39)	M31214V	probably null	Het
Uck1	G	A	2: 32,148,334 (GRCm39)	R161C	probably benign	Het
Ugt2b5	T	C	5: 87,276,209 (GRCm39)	Y355C	probably damaging	Het
Usp48	C	A	4: 137,383,436 (GRCm39)	T1031K	probably damaging	Het
Vmn1r202	G	A	13: 22,685,640 (GRCm39)	T259I	probably benign	Het
Vmn1r202	T	A	13: 22,685,500 (GRCm39)		probably benign	Het
Vmn2r90	T	C	17: 17,953,771 (GRCm39)	I645T	probably damaging	Het
Vps18	T	C	2: 119,124,132 (GRCm39)	V353A	possibly damaging	Het
Vwf	C	T	6: 125,576,326 (GRCm39)	Q469*	probably null	Het

Other mutations in Eno1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01767:Eno1	APN	4	150,331,167 (GRCm39)	missense	probably benign	0.03
IGL01992:Eno1	APN	4	150,323,993 (GRCm39)	missense	probably damaging	1.00
IGL03133:Eno1	APN	4	150,329,801 (GRCm39)	unclassified	probably benign
B5639:Eno1	UTSW	4	150,329,569 (GRCm39)	unclassified	probably benign
R1387:Eno1	UTSW	4	150,332,590 (GRCm39)	unclassified	probably benign
R1957:Eno1	UTSW	4	150,331,232 (GRCm39)	splice site	probably null
R3835:Eno1	UTSW	4	150,331,119 (GRCm39)	missense	probably benign	0.08
R3925:Eno1	UTSW	4	150,324,025 (GRCm39)	critical splice donor site	probably null
R4178:Eno1	UTSW	4	150,328,490 (GRCm39)	missense	possibly damaging	0.94
R5577:Eno1	UTSW	4	150,331,067 (GRCm39)	nonsense	probably null
R5790:Eno1	UTSW	4	150,329,710 (GRCm39)	missense	probably benign	0.01
R6369:Eno1	UTSW	4	150,324,025 (GRCm39)	critical splice donor site	probably null
R6377:Eno1	UTSW	4	150,333,009 (GRCm39)	missense	possibly damaging	0.78
R7305:Eno1	UTSW	4	150,329,796 (GRCm39)	critical splice donor site	probably null
R8116:Eno1	UTSW	4	150,325,526 (GRCm39)	missense	probably damaging	0.97
R8342:Eno1	UTSW	4	150,329,693 (GRCm39)	missense	probably damaging	1.00
R9203:Eno1	UTSW	4	150,332,539 (GRCm39)	nonsense	probably null
R9441:Eno1	UTSW	4	150,321,208 (GRCm39)	start gained	probably benign

Posted On

2016-08-02