Mutagenetix > Incidental Mutation

Incidental Mutation 'R4178:Eno1'

319584

Institutional Source

Beutler Lab

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

MMRRC Submission

040864-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4178 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

150321178-150333336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 150328490 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 90 (I90T)

Ref Sequence

ENSEMBL: ENSMUSP00000123695 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080149
AA Change: I22T

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000079045
Gene: ENSMUSG00000063524
AA Change: I22T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080926
AA Change: I90T

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000079727
Gene: ENSMUSG00000063524
AA Change: I90T

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

possibly damaging
Transcript: ENSMUST00000133839
AA Change: I90T

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000114361
Gene: ENSMUSG00000063524
AA Change: I90T

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

possibly damaging
Transcript: ENSMUST00000150175
AA Change: I90T

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000123695
Gene: ENSMUSG00000063524
AA Change: I90T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151057

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148605

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.3%

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Antxrl	A	G	14: 33,776,928 (GRCm39)		probably null	Het
Atp2b2	A	T	6: 113,770,679 (GRCm39)	V410E	probably damaging	Het
C6	G	A	15: 4,764,621 (GRCm39)	V106I	probably benign	Het
Cdhr1	A	C	14: 36,804,896 (GRCm39)		probably null	Het
Cfap44	T	A	16: 44,272,216 (GRCm39)	L1323Q	possibly damaging	Het
Ehd4	T	A	2: 119,984,829 (GRCm39)	Y43F	probably damaging	Het
Epb41l1	A	G	2: 156,363,477 (GRCm39)	Y662C	probably benign	Het
Fkbp14	A	G	6: 54,566,299 (GRCm39)	L103P	probably damaging	Het
Gm10322	C	A	10: 59,452,052 (GRCm39)	N56K	probably benign	Het
Iqcd	C	A	5: 120,740,476 (GRCm39)	T269K	probably damaging	Het
Kat6b	T	A	14: 21,668,972 (GRCm39)	C249*	probably null	Het
Kcnab2	T	C	4: 152,489,058 (GRCm39)	R109G	probably null	Het
Obox7	C	A	7: 14,398,031 (GRCm39)	Q24K	probably damaging	Het
Obox7	A	G	7: 14,398,032 (GRCm39)	Q24R	probably damaging	Het
Or5p1	A	G	7: 107,916,565 (GRCm39)	N155D	probably damaging	Het
Or5p68	G	A	7: 107,945,765 (GRCm39)	T141I	probably benign	Het
Or8g18	A	C	9: 39,149,375 (GRCm39)	L115*	probably null	Het
Rasgrf2	C	T	13: 92,038,717 (GRCm39)	G1043D	probably damaging	Het
Slf1	A	G	13: 77,191,688 (GRCm39)	S1049P	probably damaging	Het
Smc1b	A	T	15: 85,004,848 (GRCm39)	F409I	possibly damaging	Het
Tab2	A	G	10: 7,795,123 (GRCm39)	V453A	probably damaging	Het
Ubr4	A	G	4: 139,120,725 (GRCm39)	Y338C	probably damaging	Het
Usp6nl	A	G	2: 6,445,787 (GRCm39)	E588G	probably benign	Het
Vcan	T	C	13: 89,873,666 (GRCm39)	R63G	probably damaging	Het
Zfp775	A	G	6: 48,590,187 (GRCm39)		probably null	Het
Zfpm2	T	C	15: 40,966,940 (GRCm39)	C1010R	probably damaging	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
IGL03114:Eno1	APN	4	150,325,583 (GRCm39)	missense	probably benign	0.01
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
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

Predicted Primers

PCR Primer
(F):5'- GGAGTTAGGGATTGAGCCAGTC -3'
(R):5'- TCCCAGGATGGCATTTGCAC -3'

Sequencing Primer
(F):5'- CTTCTGCAAGCATTGAGACG -3'
(R):5'- GAGCAGATGCCATTTCTTAGC -3'

Posted On

2015-06-10