Mutagenetix > Incidental Mutation

Incidental Mutation 'R1518:Eno3'

167208

Institutional Source

Beutler Lab

Gene Symbol

Eno3

Ensembl Gene

ENSMUSG00000060600

Gene Name

enolase 3, beta muscle

Synonyms

Eno-3

Accession Numbers

Essential gene?

Probably essential (E-score: 0.815) question?

Stock #

R1518 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70548028-70553339 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 70551903 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 64 (E64*)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018431] [ENSMUST00000072841] [ENSMUST00000108548] [ENSMUST00000126241] [ENSMUST00000129434] [ENSMUST00000170716] [ENSMUST00000134087] [ENSMUST00000157027]

AlphaFold

P21550

Predicted Effect

probably benign
Transcript: ENSMUST00000018431

SMART Domains

Protein: ENSMUSP00000018431
Gene: ENSMUSG00000018287

Domain	Start	End	E-Value	Type
R3H	31	109	3.85e-21	SMART
low complexity region	130	152	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000072841
AA Change: E250*

SMART Domains

Protein: ENSMUSP00000072620
Gene: ENSMUSG00000060600
AA Change: E250*

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: E250*

SMART Domains

Protein: ENSMUSP00000104188
Gene: ENSMUSG00000060600
AA Change: E250*

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: ENSMUST00000124691

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

probably benign
Transcript: ENSMUST00000129434

SMART Domains

Protein: ENSMUSP00000115098
Gene: ENSMUSG00000018287

Domain	Start	End	E-Value	Type
R3H	22	99	3.06e-15	SMART
low complexity region	120	142	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131642

Predicted Effect

probably null
Transcript: ENSMUST00000170716
AA Change: E250*

SMART Domains

Protein: ENSMUSP00000128714
Gene: ENSMUSG00000060600
AA Change: E250*

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: ENSMUST00000179055
AA Change: E64*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137691

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179738

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 benign
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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	T	A	9: 44,186,666 (GRCm39)	M493L	probably benign	Het
Abtb2	G	A	2: 103,539,629 (GRCm39)	V665I	probably benign	Het
Adamtsl1	C	G	4: 86,260,840 (GRCm39)	S1017W	probably damaging	Het
Aebp1	A	G	11: 5,821,469 (GRCm39)	T623A	possibly damaging	Het
Alox5	A	G	6: 116,390,741 (GRCm39)	F470S	probably damaging	Het
Angpt2	T	C	8: 18,755,855 (GRCm39)	E204G	probably benign	Het
Apip	A	G	2: 102,919,838 (GRCm39)	E138G	probably damaging	Het
Apob	C	T	12: 8,039,207 (GRCm39)	T466M	probably benign	Het
Atp2b3	GACAACA	GACA	X: 72,588,729 (GRCm39)		probably benign	Het
Atxn7l3	A	T	11: 102,185,340 (GRCm39)	D56E	probably benign	Het
Cacna1s	C	T	1: 136,026,289 (GRCm39)	A1092V	probably damaging	Het
Calr3	A	G	8: 73,181,044 (GRCm39)	F183L	probably damaging	Het
Cd300lb	T	A	11: 114,816,877 (GRCm39)	D55V	probably benign	Het
Chid1	A	C	7: 141,108,384 (GRCm39)	V145G	probably damaging	Het
Chst15	T	C	7: 131,871,855 (GRCm39)	N142S	probably damaging	Het
Cnot4	C	T	6: 35,028,389 (GRCm39)	R409Q	probably damaging	Het
Cope	T	G	8: 70,765,411 (GRCm39)	I287S	possibly damaging	Het
Cpd	A	T	11: 76,731,212 (GRCm39)		probably null	Het
Cux1	G	T	5: 136,337,133 (GRCm39)	T785K	probably benign	Het
Dennd2b	A	G	7: 109,156,562 (GRCm39)	S63P	probably damaging	Het
Dthd1	T	C	5: 62,979,383 (GRCm39)	S348P	probably damaging	Het
Entpd1	T	A	19: 40,713,507 (GRCm39)	Y184*	probably null	Het
Erv3	A	T	2: 131,698,083 (GRCm39)	M92K	probably benign	Het
Flg2	T	A	3: 93,110,445 (GRCm39)	H824Q	unknown	Het
Fndc9	G	A	11: 46,128,930 (GRCm39)	G150S	probably benign	Het
Gdap1	G	A	1: 17,217,169 (GRCm39)	V43I	possibly damaging	Het
Ifi213	C	A	1: 173,417,229 (GRCm39)	L394F	probably damaging	Het
Ift88	A	G	14: 57,668,085 (GRCm39)	T29A	possibly damaging	Het
Kdm4c	A	T	4: 74,252,063 (GRCm39)	I437L	probably benign	Het
Kras	T	A	6: 145,177,977 (GRCm39)	E98D	probably benign	Het
Lcorl	C	A	5: 45,891,543 (GRCm39)	R353I	possibly damaging	Het
Lrrc4c	A	G	2: 97,460,921 (GRCm39)	I516V	probably benign	Het
Lrrc51	T	C	7: 101,564,803 (GRCm39)	D85G	probably damaging	Het
Lypd6b	G	A	2: 49,837,504 (GRCm39)	A159T	probably damaging	Het
Magel2	G	A	7: 62,030,188 (GRCm39)	V1031I	unknown	Het
Man1c1	A	T	4: 134,308,100 (GRCm39)	N338K	probably benign	Het
Mdn1	C	A	4: 32,739,977 (GRCm39)	Q3744K	probably damaging	Het
Micu3	G	T	8: 40,788,893 (GRCm39)	A135S	possibly damaging	Het
Muc4	T	C	16: 32,569,167 (GRCm39)	S76P	possibly damaging	Het
Nin	T	G	12: 70,061,547 (GRCm39)	T2106P	probably benign	Het
Nlrp4e	T	C	7: 23,021,268 (GRCm39)	I585T	probably benign	Het
Npy1r	C	T	8: 67,156,847 (GRCm39)	A89V	probably benign	Het
Or11g27	T	C	14: 50,771,622 (GRCm39)	V251A	probably damaging	Het
Or4c115	G	A	2: 88,927,944 (GRCm39)	A109V	probably benign	Het
Or52ae7	T	A	7: 103,119,249 (GRCm39)	M1K	probably null	Het
Or52n3	T	A	7: 104,530,515 (GRCm39)	Y200*	probably null	Het
Or5w13	A	T	2: 87,523,872 (GRCm39)	M118K	probably damaging	Het
Parp14	T	G	16: 35,677,008 (GRCm39)	T987P	possibly damaging	Het
Pde7b	A	T	10: 20,423,867 (GRCm39)	V3E	probably damaging	Het
Pdlim7	G	T	13: 55,656,107 (GRCm39)	Y104*	probably null	Het
Pgm2l1	A	G	7: 99,910,932 (GRCm39)	K292R	probably benign	Het
Plec	T	C	15: 76,072,401 (GRCm39)	E728G	probably damaging	Het
Plppr4	T	C	3: 117,129,152 (GRCm39)	Y105C	probably damaging	Het
Polr1c	A	T	17: 46,558,821 (GRCm39)	N23K	possibly damaging	Het
Ppp5c	A	T	7: 16,743,861 (GRCm39)	M191K	probably damaging	Het
Prkca	T	C	11: 107,869,142 (GRCm39)	D57G	probably damaging	Het
Prkcb	A	G	7: 122,143,854 (GRCm39)		probably null	Het
Prl6a1	A	T	13: 27,502,911 (GRCm39)	Q169L	probably null	Het
Prl6a1	C	A	13: 27,502,910 (GRCm39)	Q169K	possibly damaging	Het
Psmd14	G	A	2: 61,591,335 (GRCm39)	R46H	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ramp2	A	G	11: 101,138,408 (GRCm39)	T22A	probably benign	Het
Rbm19	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	5: 120,278,345 (GRCm39)		probably benign	Het
Rbm25	A	T	12: 83,715,219 (GRCm39)	E463D	possibly damaging	Het
Retnlb	A	G	16: 48,637,678 (GRCm39)	I35V	probably benign	Het
Sestd1	A	G	2: 77,071,976 (GRCm39)	Y49H	probably damaging	Het
Setd2	T	A	9: 110,431,306 (GRCm39)	I2378N	probably damaging	Het
Slc26a1	A	T	5: 108,819,740 (GRCm39)	C486*	probably null	Het
Spef2	T	A	15: 9,667,316 (GRCm39)	I791F	probably damaging	Het
Sptb	T	C	12: 76,650,798 (GRCm39)	T1726A	possibly damaging	Het
Stk38l	T	A	6: 146,673,129 (GRCm39)	M296K	probably benign	Het
Taf5	T	C	19: 47,070,285 (GRCm39)	F624L	probably damaging	Het
Tmem30c	G	T	16: 57,086,855 (GRCm39)	T316K	probably damaging	Het
Trpm2	A	G	10: 77,778,839 (GRCm39)	S376P	possibly damaging	Het
Vmn2r82	A	T	10: 79,214,702 (GRCm39)	L228F	probably damaging	Het
Zfp607b	G	A	7: 27,398,087 (GRCm39)	C57Y	possibly damaging	Het
Zfp983	A	G	17: 21,881,269 (GRCm39)	H399R	probably damaging	Het
Zfp984	A	T	4: 147,840,002 (GRCm39)	M283K	probably benign	Het

Other mutations in Eno3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02479:Eno3	APN	11	70,551,714 (GRCm39)	splice site	probably benign
IGL02591:Eno3	APN	11	70,552,853 (GRCm39)	missense	probably damaging	1.00
IGL02868:Eno3	APN	11	70,552,826 (GRCm39)	missense	probably damaging	1.00
R7060_eno3_205	UTSW	11	70,552,245 (GRCm39)	missense	possibly damaging	0.95
R0242:Eno3	UTSW	11	70,548,761 (GRCm39)	missense	probably null	1.00
R0242:Eno3	UTSW	11	70,548,761 (GRCm39)	missense	probably null	1.00
R0970:Eno3	UTSW	11	70,551,628 (GRCm39)	missense	probably damaging	1.00
R1587:Eno3	UTSW	11	70,552,296 (GRCm39)	missense	probably damaging	0.99
R1663:Eno3	UTSW	11	70,553,100 (GRCm39)	critical splice donor site	probably null
R1675:Eno3	UTSW	11	70,549,492 (GRCm39)	critical splice donor site	probably null
R1758:Eno3	UTSW	11	70,552,251 (GRCm39)	missense	possibly damaging	0.77
R3983:Eno3	UTSW	11	70,552,237 (GRCm39)	missense	probably damaging	0.98
R4990:Eno3	UTSW	11	70,549,473 (GRCm39)	missense	probably damaging	0.99
R4992:Eno3	UTSW	11	70,549,473 (GRCm39)	missense	probably damaging	0.99
R5170:Eno3	UTSW	11	70,553,040 (GRCm39)	missense	probably benign	0.00
R6116:Eno3	UTSW	11	70,552,401 (GRCm39)	missense	possibly damaging	0.70
R6917:Eno3	UTSW	11	70,552,262 (GRCm39)	missense	probably benign
R7060:Eno3	UTSW	11	70,552,245 (GRCm39)	missense	possibly damaging	0.95
R7128:Eno3	UTSW	11	70,549,430 (GRCm39)	missense	possibly damaging	0.76
R7678:Eno3	UTSW	11	70,549,993 (GRCm39)	splice site	probably null
R7696:Eno3	UTSW	11	70,552,809 (GRCm39)	missense	probably benign	0.00
R7954:Eno3	UTSW	11	70,552,006 (GRCm39)	missense	probably benign	0.01
R8969:Eno3	UTSW	11	70,551,691 (GRCm39)	missense	possibly damaging	0.84

Predicted Primers

PCR Primer
(F):5'- CCCAACATCCTGGAGAACAATGAGG -3'
(R):5'- TGACAAAGCCAAATGCTGAGAGCC -3'

Sequencing Primer
(F):5'- CTGGAGAACAATGAGGGTCAGTG -3'
(R):5'- CTGAGAGCCATGCTAGGTAACC -3'

Posted On

2014-04-13