Mutagenetix > Incidental Mutation

Incidental Mutation 'R0242:Eno3'

59577

Institutional Source

Beutler Lab

Gene Symbol

Eno3

Ensembl Gene

ENSMUSG00000060600

Gene Name

enolase 3, beta muscle

Synonyms

Eno-3

MMRRC Submission

038480-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.805) question?

Stock #

R0242 (G1)

Quality Score

223

Status

Validated

Chromosome

Chromosomal Location

70657202-70662513 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70657935 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 21 (E21G)

Ref Sequence

ENSEMBL: ENSMUSP00000115726 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018437] [ENSMUST00000072841] [ENSMUST00000108548] [ENSMUST00000108549] [ENSMUST00000126241] [ENSMUST00000134087] [ENSMUST00000157027] [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
AA Change: E21G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000072620
Gene: ENSMUSG00000060600
AA Change: E21G

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
AA Change: E21G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104188
Gene: ENSMUSG00000060600
AA Change: E21G

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 null
Transcript: ENSMUST00000126241
AA Change: E21G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123688
Gene: ENSMUSG00000060600
AA Change: E21G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131642

Predicted Effect

probably null
Transcript: ENSMUST00000134087
AA Change: E21G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121640
Gene: ENSMUSG00000060600
AA Change: E21G

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

Predicted Effect

probably null
Transcript: ENSMUST00000157027
AA Change: E21G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115726
Gene: ENSMUSG00000060600
AA Change: E21G

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 damaging
Transcript: ENSMUST00000170716
AA Change: E21G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128714
Gene: ENSMUSG00000060600
AA Change: E21G

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

Meta Mutation Damage Score

0.9441

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.5%

Validation Efficiency

97% (110/113)

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	T	C	8: 13,551,676	D230G	probably benign	Het
4930435E12Rik	C	T	16: 38,824,567		probably benign	Het
Abhd13	A	G	8: 9,987,561	I53V	probably benign	Het
Adgrl2	A	C	3: 148,839,185		probably null	Het
Aldh16a1	G	A	7: 45,144,664	A596V	probably damaging	Het
Aldh3b2	T	A	19: 3,979,414	Y262*	probably null	Het
Ambn	A	G	5: 88,467,972	Q420R	possibly damaging	Het
Ankib1	A	C	5: 3,700,344		probably benign	Het
Arhgap9	C	A	10: 127,329,538	H430Q	probably benign	Het
Arhgef25	C	T	10: 127,184,064	G435E	probably damaging	Het
Armc12	A	T	17: 28,532,392	D120V	possibly damaging	Het
Armc4	A	T	18: 7,211,516	V786D	probably damaging	Het
Asxl3	G	A	18: 22,516,681	E576K	possibly damaging	Het
Bcdin3d	T	C	15: 99,470,895	E141G	probably benign	Het
Bmpr1b	G	A	3: 141,840,676	T483M	probably damaging	Het
Caprin2	C	T	6: 148,842,954	S991N	probably damaging	Het
Cd96	T	C	16: 46,071,766	I286M	possibly damaging	Het
Cdcp1	G	T	9: 123,180,172	F480L	probably benign	Het
Celf5	T	C	10: 81,464,409	T258A	probably benign	Het
Cgnl1	A	G	9: 71,721,657	V577A	probably damaging	Het
Clca3b	A	G	3: 144,841,465	S304P	probably benign	Het
Cmya5	A	T	13: 93,095,600	H993Q	probably benign	Het
Cnbp	A	T	6: 87,845,764	C6S	probably damaging	Het
Col14a1	C	T	15: 55,497,511	R1605W	probably damaging	Het
Cops7a	T	C	6: 124,964,854	N11S	probably benign	Het
Coro7	T	C	16: 4,630,178		probably benign	Het
Cpvl	T	C	6: 53,932,500	H217R	possibly damaging	Het
Cuedc1	T	C	11: 88,184,621		probably benign	Het
Cyp2c66	A	G	19: 39,141,925	Y68C	probably damaging	Het
Dicer1	G	A	12: 104,702,451	T1324M	probably benign	Het
Dlgap2	A	G	8: 14,727,562	D268G	probably benign	Het
Dnm1	T	A	2: 32,316,989	M535L	possibly damaging	Het
Dock7	A	T	4: 98,962,280	F1575Y	probably benign	Het
Dpp10	T	A	1: 123,398,546	H403L	possibly damaging	Het
Dync1h1	A	G	12: 110,649,851	D3112G	possibly damaging	Het
Fam120b	T	A	17: 15,422,924	V655D	probably damaging	Het
Fam129a	A	G	1: 151,718,216	D884G	probably benign	Het
Fkbp5	A	T	17: 28,428,452	D136E	probably benign	Het
Gdap1l1	T	A	2: 163,447,653	Y179*	probably null	Het
Gfer	A	G	17: 24,694,303	W192R	probably damaging	Het
Gm4782	A	G	6: 50,609,858	T408A	probably benign	Het
Golgb1	C	T	16: 36,875,630	Q164*	probably null	Het
Gpnmb	A	G	6: 49,047,342	N197S	probably damaging	Het
Gtf2f1	G	A	17: 57,003,802	T414M	probably benign	Het
Hc	A	G	2: 35,036,154		probably benign	Het
Hcfc1	A	T	X: 73,948,429		probably benign	Het
Helz2	C	T	2: 181,230,430	R2539Q	probably damaging	Het
Hsd17b12	T	A	2: 94,157,815	I19F	probably benign	Het
Incenp	T	C	19: 9,893,750	T172A	unknown	Het
Jmy	A	G	13: 93,441,618	Y681H	probably benign	Het
Kbtbd11	A	G	8: 15,027,508	T36A	probably benign	Het
Kcnh4	T	C	11: 100,755,699	D267G	probably damaging	Het
Krt34	C	T	11: 100,041,331	E56K	probably damaging	Het
Krt40	T	A	11: 99,538,742	E335D	probably damaging	Het
Krt86	T	A	15: 101,476,573	Y282*	probably null	Het
Lgi3	C	T	14: 70,534,815	R267*	probably null	Het
Lnpk	A	G	2: 74,537,289		probably benign	Het
Lrp1b	T	A	2: 40,998,183	H2355L	probably benign	Het
Lrrc8e	G	A	8: 4,235,401	R542H	probably benign	Het
Mia2	T	C	12: 59,108,856	Y452H	probably damaging	Het
Mmachc	C	T	4: 116,704,541	R132Q	probably damaging	Het
Mtbp	T	A	15: 55,577,486	N356K	possibly damaging	Het
Mum1	T	C	10: 80,234,258	S354P	probably benign	Het
Myo5b	A	G	18: 74,661,716	H552R	possibly damaging	Het
Noxred1	A	G	12: 87,226,979	V96A	probably benign	Het
Nr1d2	T	A	14: 18,211,933	D390V	possibly damaging	Het
Oas1e	A	T	5: 120,791,774		probably benign	Het
Olfr398	T	C	11: 73,983,712	S299G	probably benign	Het
Olfr786	T	A	10: 129,437,348	Y179N	probably damaging	Het
Otog	G	T	7: 46,267,381	C914F	probably damaging	Het
Pank2	G	T	2: 131,280,197	C214F	probably damaging	Het
Pcdhb1	T	A	18: 37,266,735	S580T	probably benign	Het
Pdia3	T	C	2: 121,414,111	S2P	probably damaging	Het
Peli1	G	T	11: 21,142,602	R83L	probably damaging	Het
Pla2g3	T	A	11: 3,491,935	C366*	probably null	Het
Pon3	T	A	6: 5,240,860	D107V	probably benign	Het
Ppip5k2	A	G	1: 97,741,091	C532R	probably damaging	Het
Prph	A	T	15: 99,055,727	D174V	probably damaging	Het
Psd3	A	G	8: 67,758,086	M270T	probably damaging	Het
Pum3	A	G	19: 27,422,755		probably benign	Het
Pus1	A	T	5: 110,779,798	H30Q	probably benign	Het
Rab7	A	T	6: 88,005,132	V87E	probably damaging	Het
Rbm5	A	T	9: 107,751,708		probably benign	Het
Reln	A	G	5: 21,942,597		probably null	Het
S1pr3	A	G	13: 51,418,902	T40A	probably benign	Het
Sdk1	T	A	5: 142,143,922		probably benign	Het
Senp7	T	A	16: 56,179,521	I853N	probably damaging	Het
Serpinb6c	T	A	13: 33,899,247		probably benign	Het
Shroom1	T	G	11: 53,465,485		probably null	Het
Slc24a3	T	C	2: 145,606,664	I376T	probably benign	Het
Slc46a1	T	C	11: 78,468,667	I375T	possibly damaging	Het
Slc4a9	T	C	18: 36,533,680	F527S	probably damaging	Het
Slc4a9	T	A	18: 36,541,233	I924N	probably damaging	Het
Slx4	T	A	16: 3,986,952	E666V	probably damaging	Het
Snrnp27	G	A	6: 86,675,593		probably benign	Het
Sorcs1	C	T	19: 50,228,221	G640E	probably damaging	Het
Sptan1	A	T	2: 30,018,401	M1725L	probably benign	Het
Sync	G	A	4: 129,293,721	R182K	probably damaging	Het
Syne2	G	A	12: 76,098,034	G1586S	probably damaging	Het
Sytl1	G	T	4: 133,253,457	T522K	probably damaging	Het
Tex2	T	A	11: 106,519,955	K414*	probably null	Het
Thegl	G	T	5: 77,016,305	E52*	probably null	Het
Thsd7a	G	A	6: 12,503,916	T413I	probably benign	Het
Tm9sf1	C	T	14: 55,637,935	A451T	possibly damaging	Het
Ttn	A	T	2: 76,826,152		probably benign	Het
Uba2	T	C	7: 34,154,629	I140V	possibly damaging	Het
Ushbp1	C	A	8: 71,390,118	G361*	probably null	Het
Wbp2nl	C	T	15: 82,313,787	A175V	probably benign	Het
Zc3h12d	A	G	10: 7,862,566	E212G	probably damaging	Het
Zc3h7b	T	C	15: 81,768,830		probably benign	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
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
R1675:Eno3	UTSW	11	70658666	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'- GGTGGAACAAGAGCTGTTCTGAGTG -3'
(R):5'- AATGGGGTTCAGATTTCTAAGCGGG -3'

Sequencing Primer
(F):5'- GGGTATTTTTAGCTCCAGCAC -3'
(R):5'- TTCATAGATACCCGTGGAAGCTC -3'

Posted On

2013-07-11