Mutagenetix > Incidental Mutation

Incidental Mutation 'R1675:Eno3'

188011

Institutional Source

Beutler Lab

Gene Symbol

Eno3

Ensembl Gene

ENSMUSG00000060600

Gene Name

enolase 3, beta muscle

Synonyms

Eno-3

MMRRC Submission

039711-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.797) question?

Stock #

R1675 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70657202-70662513 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 70658666 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128714 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018437] [ENSMUST00000072841] [ENSMUST00000072841] [ENSMUST00000108548] [ENSMUST00000108548] [ENSMUST00000108548] [ENSMUST00000108548] [ENSMUST00000108549] [ENSMUST00000126241] [ENSMUST00000134087] [ENSMUST00000157027] [ENSMUST00000157027] [ENSMUST00000170716] [ENSMUST00000170716] [ENSMUST00000178254]

AlphaFold

P21550

Predicted Effect

probably benign
Transcript: ENSMUST00000018437

SMART Domains

Protein: ENSMUSP00000018437
Gene: ENSMUSG00000018293

Domain	Start	End	E-Value	Type
PROF	2	140	4.46e-58	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000072841

SMART Domains

Protein: ENSMUSP00000072620
Gene: ENSMUSG00000060600

Domain	Start	End	E-Value	Type
Enolase_N	3	134	6.26e-91	SMART
Enolase_C	142	431	8.8e-200	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000072841

SMART Domains

Protein: ENSMUSP00000072620
Gene: ENSMUSG00000060600

Domain	Start	End	E-Value	Type
Enolase_N	3	134	6.26e-91	SMART
Enolase_C	142	431	8.8e-200	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000108548

SMART Domains

Protein: ENSMUSP00000104188
Gene: ENSMUSG00000060600

Domain	Start	End	E-Value	Type
Enolase_N	3	134	6.26e-91	SMART
Enolase_C	142	431	8.8e-200	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000108548

SMART Domains

Protein: ENSMUSP00000104188
Gene: ENSMUSG00000060600

Domain	Start	End	E-Value	Type
Enolase_N	3	134	6.26e-91	SMART
Enolase_C	142	431	8.8e-200	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000108548

SMART Domains

Protein: ENSMUSP00000104188
Gene: ENSMUSG00000060600

Domain	Start	End	E-Value	Type
Enolase_N	3	134	6.26e-91	SMART
Enolase_C	142	431	8.8e-200	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000108548

SMART Domains

Protein: ENSMUSP00000104188
Gene: ENSMUSG00000060600

Domain	Start	End	E-Value	Type
Enolase_N	3	134	6.26e-91	SMART
Enolase_C	142	431	8.8e-200	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108549

SMART Domains

Protein: ENSMUSP00000104189
Gene: ENSMUSG00000018293

Domain	Start	End	E-Value	Type
Pfam:Profilin	3	109	7e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126241

SMART Domains

Protein: ENSMUSP00000123688
Gene: ENSMUSG00000060600

Domain	Start	End	E-Value	Type
Enolase_N	3	70	7.82e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131642

Predicted Effect

probably benign
Transcript: ENSMUST00000134087

SMART Domains

Protein: ENSMUSP00000121640
Gene: ENSMUSG00000060600

Domain	Start	End	E-Value	Type
Enolase_N	3	78	3.53e-26	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000157027

SMART Domains

Protein: ENSMUSP00000115726
Gene: ENSMUSG00000060600

Domain	Start	End	E-Value	Type
Enolase_N	3	134	6.26e-91	SMART
Pfam:Enolase_C	142	196	1e-29	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000157027

SMART Domains

Protein: ENSMUSP00000115726
Gene: ENSMUSG00000060600

Domain	Start	End	E-Value	Type
Enolase_N	3	134	6.26e-91	SMART
Pfam:Enolase_C	142	196	1e-29	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000170716

SMART Domains

Protein: ENSMUSP00000128714
Gene: ENSMUSG00000060600

Domain	Start	End	E-Value	Type
Enolase_N	3	134	6.26e-91	SMART
Enolase_C	142	431	8.8e-200	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000170716

SMART Domains

Protein: ENSMUSP00000128714
Gene: ENSMUSG00000060600

Domain	Start	End	E-Value	Type
Enolase_N	3	134	6.26e-91	SMART
Enolase_C	142	431	8.8e-200	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177669

Predicted Effect

probably benign
Transcript: ENSMUST00000178254

SMART Domains

Protein: ENSMUSP00000136219
Gene: ENSMUSG00000018293

Domain	Start	End	E-Value	Type
Pfam:Profilin	3	54	1.4e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179055

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179738

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.5%
20x: 93.1%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes one of the three enolase isoenzymes found in vertebrates. Enolase is a dimeric enzyme that converts 2-phosphoglycerate to phosphoenolpyruvate as part of the glycolytic pathway. This isozyme is found in skeletal muscle where it is involved in muscle development and regeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	C	T	1: 71,263,411		probably null	Het
Adam6b	T	C	12: 113,491,044	Y494H	probably benign	Het
Adamtsl2	GC	G	2: 27,082,485		probably null	Het
Anapc2	G	A	2: 25,272,639	V42M	possibly damaging	Het
Aph1a	T	A	3: 95,894,899	D64E	possibly damaging	Het
Arhgef11	C	T	3: 87,731,211	A1111V	possibly damaging	Het
Atoh1	T	C	6: 64,730,157	S279P	probably benign	Het
Atp10b	A	G	11: 43,225,648	T941A	probably damaging	Het
Barhl1	C	T	2: 28,915,411	R90Q	possibly damaging	Het
Calr3	T	C	8: 72,431,458	D91G	probably damaging	Het
Ccdc148	T	C	2: 58,980,554	D317G	probably damaging	Het
Cnn3	C	T	3: 121,457,169	Q19*	probably null	Het
Cul5	T	C	9: 53,646,683	D207G	probably benign	Het
Cyp4x1	T	C	4: 115,127,560	E41G	possibly damaging	Het
Dagla	T	A	19: 10,269,323	M138L	probably benign	Het
Dnah6	A	T	6: 73,129,540	M1738K	probably damaging	Het
Eif4enif1	T	A	11: 3,215,686	S88T	probably benign	Het
Erbb3	C	A	10: 128,571,204	S1029I	probably damaging	Het
Erbin	C	A	13: 103,841,178	V624L	probably damaging	Het
Fam170b	C	T	14: 32,835,402	Q65*	probably null	Het
Fam208b	T	C	13: 3,569,507	I2241M	possibly damaging	Het
Gin1	T	A	1: 97,786,055	L360*	probably null	Het
Gldc	A	T	19: 30,143,453	D359E	probably damaging	Het
Gpr107	A	T	2: 31,167,051	T52S	possibly damaging	Het
Hip1r	A	G	5: 123,994,820	Y227C	probably damaging	Het
Hmgxb3	A	G	18: 61,135,559	L1004P	probably damaging	Het
Hspa1l	A	G	17: 34,977,443	N153D	probably damaging	Het
Itga8	C	A	2: 12,200,163	V488L	probably damaging	Het
Kcnk10	G	A	12: 98,496,288	A134V	probably benign	Het
Kif18a	T	A	2: 109,298,403	C406S	probably benign	Het
Klhl28	A	T	12: 64,951,819	S300R	probably damaging	Het
Kmt2e	C	T	5: 23,482,453	Q434*	probably null	Het
Lilrb4a	A	G	10: 51,496,185	T222A	probably benign	Het
Lipn	G	A	19: 34,080,710	R277Q	probably damaging	Het
Lrrc61	G	A	6: 48,568,774	R177Q	possibly damaging	Het
Lrrc74a	G	A	12: 86,741,026	E144K	probably damaging	Het
Mal	T	C	2: 127,635,044	Y77C	probably benign	Het
Map1a	T	A	2: 121,302,655	C1079*	probably null	Het
Mbd5	T	A	2: 49,256,218	S147T	possibly damaging	Het
Nsd2	T	A	5: 33,861,149	M509K	probably benign	Het
Olfr1342	C	T	4: 118,689,948	R168H	probably benign	Het
Olfr262	C	T	19: 12,240,831	V277I	probably benign	Het
Olfr414	T	C	1: 174,431,097	V223A	probably benign	Het
Olfr51	T	C	11: 51,007,637	F222L	probably benign	Het
Rcor2	C	T	19: 7,270,181	L45F	probably damaging	Het
Rpl12	T	A	2: 32,963,525	D107E	probably benign	Het
Rpl7l1	A	T	17: 46,778,191	F205I	probably damaging	Het
Samd4b	C	T	7: 28,414,010	G177R	probably damaging	Het
Sema4a	A	T	3: 88,454,766	F18I	possibly damaging	Het
Slc37a1	A	T	17: 31,338,074	T405S	probably damaging	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Syt14	T	C	1: 192,897,482	D781G	probably damaging	Het
Tprn	T	G	2: 25,264,409	D574E	probably benign	Het
Trim75	T	A	8: 64,982,511	E429V	probably damaging	Het
Trit1	C	T	4: 123,054,236	R450C	possibly damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Unc13c	A	G	9: 73,639,050		probably null	Het
Usp49	C	A	17: 47,673,410	L447I	probably damaging	Het
Vmn1r20	T	C	6: 57,431,952	C88R	probably benign	Het
Zfp94	T	A	7: 24,302,834	K394N	probably damaging	Het

Other mutations in Eno3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02479:Eno3	APN	11	70660888	splice site	probably benign
IGL02591:Eno3	APN	11	70662027	missense	probably damaging	1.00
IGL02868:Eno3	APN	11	70662000	missense	probably damaging	1.00
R7060_eno3_205	UTSW	11	70661419	missense	possibly damaging	0.95
R0242:Eno3	UTSW	11	70657935	missense	probably null	1.00
R0242:Eno3	UTSW	11	70657935	missense	probably null	1.00
R0970:Eno3	UTSW	11	70660802	missense	probably damaging	1.00
R1518:Eno3	UTSW	11	70661077	nonsense	probably null
R1587:Eno3	UTSW	11	70661470	missense	probably damaging	0.99
R1663:Eno3	UTSW	11	70662274	critical splice donor site	probably null
R1758:Eno3	UTSW	11	70661425	missense	possibly damaging	0.77
R3983:Eno3	UTSW	11	70661411	missense	probably damaging	0.98
R4990:Eno3	UTSW	11	70658647	missense	probably damaging	0.99
R4992:Eno3	UTSW	11	70658647	missense	probably damaging	0.99
R5170:Eno3	UTSW	11	70662214	missense	probably benign	0.00
R6116:Eno3	UTSW	11	70661575	missense	possibly damaging	0.70
R6917:Eno3	UTSW	11	70661436	missense	probably benign
R7060:Eno3	UTSW	11	70661419	missense	possibly damaging	0.95
R7128:Eno3	UTSW	11	70658604	missense	possibly damaging	0.76
R7678:Eno3	UTSW	11	70659167	splice site	probably null
R7696:Eno3	UTSW	11	70661983	missense	probably benign	0.00
R7954:Eno3	UTSW	11	70661180	missense	probably benign	0.01
R8969:Eno3	UTSW	11	70660865	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- TCCTGCTCTGCTGGAAAAGGCAAG -3'
(R):5'- TCATCCCTGGGCCAAGAGTTTCAC -3'

Sequencing Primer
(F):5'- GTGACCCCGTGCCTTCC -3'
(R):5'- AAAGGCTACCCAGTTACGGT -3'

Posted On

2014-05-09