Mutagenetix > Incidental Mutation

Incidental Mutation 'R8969:Eno3'

682953

Institutional Source

Beutler Lab

Gene Symbol

Eno3

Ensembl Gene

ENSMUSG00000060600

Gene Name

enolase 3, beta muscle

Synonyms

Eno-3

MMRRC Submission

068803-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.815) question?

Stock #

R8969 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70548028-70553339 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70551691 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 217 (I217N)

Ref Sequence

ENSEMBL: ENSMUSP00000072620 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000072841
AA Change: I217N

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000072620
Gene: ENSMUSG00000060600
AA Change: I217N

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108548
AA Change: I217N

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104188
Gene: ENSMUSG00000060600
AA Change: I217N

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: 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

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170716
AA Change: I217N

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000128714
Gene: ENSMUSG00000060600
AA Change: I217N

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 damaging
Transcript: ENSMUST00000179055
AA Change: I31N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (77/77)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,227,944 (GRCm39)	N662K	probably benign	Het
Acp7	G	A	7: 28,307,382 (GRCm39)	R492W	probably damaging	Het
Adam33	C	T	2: 130,894,994 (GRCm39)	G688D	probably damaging	Het
Ak3	T	G	19: 29,025,094 (GRCm39)	M46L	probably benign	Het
Aldh1l1	A	G	6: 90,547,790 (GRCm39)	T417A	probably benign	Het
Ambp	C	T	4: 63,072,328 (GRCm39)		probably benign	Het
Arhgef11	T	C	3: 87,632,949 (GRCm39)	S687P	probably damaging	Het
Ash1l	T	C	3: 88,873,598 (GRCm39)	M127T	possibly damaging	Het
Atg9b	C	T	5: 24,592,832 (GRCm39)	A524T	probably benign	Het
Btbd10	A	T	7: 112,925,162 (GRCm39)	S277T	probably damaging	Het
Ccdc167	T	C	17: 29,924,553 (GRCm39)	D16G	probably damaging	Het
Cdh12	A	G	15: 21,492,739 (GRCm39)	T253A	probably damaging	Het
Cfap206	A	T	4: 34,692,522 (GRCm39)	D501E	probably benign	Het
Chrnb2	A	G	3: 89,664,532 (GRCm39)	F461L	probably damaging	Het
Clic1	T	C	17: 35,274,386 (GRCm39)		probably null	Het
Cmah	A	G	13: 24,606,636 (GRCm39)	Y89C	probably damaging	Het
Crkl	A	G	16: 17,286,918 (GRCm39)	E158G	probably damaging	Het
Cyp3a59	A	T	5: 146,049,630 (GRCm39)	E486V	probably benign	Het
D16Ertd472e	T	G	16: 78,344,682 (GRCm39)	Y142S	probably damaging	Het
Decr2	T	A	17: 26,306,355 (GRCm39)	M94L	probably benign	Het
Dspp	A	T	5: 104,325,640 (GRCm39)	S668C	unknown	Het
Dync2h1	T	C	9: 7,130,723 (GRCm39)	R1708G	probably damaging	Het
Fcho2	A	T	13: 98,891,604 (GRCm39)	L386*	probably null	Het
Gm5114	C	A	7: 39,058,732 (GRCm39)	V296F	probably damaging	Het
Hc	A	G	2: 34,909,475 (GRCm39)		probably null	Het
Helz2	A	G	2: 180,879,581 (GRCm39)	V679A	probably benign	Het
Ifnar2	T	C	16: 91,201,060 (GRCm39)	F434L	probably benign	Het
Isl1	A	G	13: 116,439,857 (GRCm39)	S164P	possibly damaging	Het
Jup	C	T	11: 100,270,391 (GRCm39)	C372Y	probably damaging	Het
Kat2b	T	A	17: 53,967,116 (GRCm39)	Y621*	probably null	Het
Kif2b	T	C	11: 91,468,019 (GRCm39)	H88R	probably benign	Het
Kit	G	A	5: 75,799,722 (GRCm39)	V485I		Het
Klhl36	T	C	8: 120,596,887 (GRCm39)	L196P	probably damaging	Het
Klk1b27	T	A	7: 43,703,932 (GRCm39)	I25K	probably damaging	Het
Kmt2c	T	A	5: 25,519,387 (GRCm39)	Q2241L	possibly damaging	Het
Krt10	T	A	11: 99,278,434 (GRCm39)	N242Y	probably damaging	Het
Krt36	T	A	11: 99,993,129 (GRCm39)	I449F	probably damaging	Het
Med27	G	T	2: 29,236,875 (GRCm39)	V7F	possibly damaging	Het
Mettl25b	G	A	3: 87,837,282 (GRCm39)		probably benign	Het
Mxd1	C	T	6: 86,628,466 (GRCm39)	V145M	probably benign	Het
Mylip	T	A	13: 45,544,820 (GRCm39)	F81L	probably damaging	Het
Nceh1	T	A	3: 27,276,885 (GRCm39)	F69L	probably null	Het
Ndufs3	A	T	2: 90,732,773 (GRCm39)	N104K	probably damaging	Het
Nfxl1	A	C	5: 72,716,473 (GRCm39)	V46G	unknown	Het
Or51a39	T	C	7: 102,363,558 (GRCm39)	T21A	probably benign	Het
Or51f1e	T	G	7: 102,747,251 (GRCm39)	I101S	probably damaging	Het
Or5as1	T	A	2: 86,980,928 (GRCm39)	M26L	probably benign	Het
Or5m10b	A	G	2: 85,699,832 (GRCm39)	N299D	probably benign	Het
Palld	T	A	8: 62,137,883 (GRCm39)	H624L	probably damaging	Het
Pcbp2	T	G	15: 102,399,214 (GRCm39)	L343R	probably damaging	Het
Pclo	T	A	5: 14,572,208 (GRCm39)	I531N	unknown	Het
Phip	T	C	9: 82,809,017 (GRCm39)		probably benign	Het
Phldb2	A	T	16: 45,592,496 (GRCm39)		probably null	Het
Ppp2r5e	G	T	12: 75,500,492 (GRCm39)	T467N	possibly damaging	Het
Ptcd3	T	C	6: 71,880,431 (GRCm39)	I97M	probably benign	Het
Ptpn21	T	A	12: 98,655,284 (GRCm39)	Q561L	probably benign	Het
Rnf38	A	T	4: 44,149,079 (GRCm39)	H121Q	possibly damaging	Het
Sec1	A	G	7: 45,328,897 (GRCm39)	F50S	possibly damaging	Het
Sec62	A	G	3: 30,873,024 (GRCm39)	E369G	unknown	Het
Serpinb2	A	T	1: 107,452,390 (GRCm39)	I323F	probably damaging	Het
Sh3rf1	A	C	8: 61,837,860 (GRCm39)	T802P	probably benign	Het
Srd5a3	A	G	5: 76,301,493 (GRCm39)	R241G	probably benign	Het
Suox	T	C	10: 128,507,542 (GRCm39)	N162S	probably benign	Het
Tenm2	C	T	11: 35,942,688 (GRCm39)	C1327Y	probably damaging	Het
Terf2ip	A	G	8: 112,738,370 (GRCm39)	D86G	probably damaging	Het
Tmc1	G	A	19: 20,793,593 (GRCm39)	R523C	probably damaging	Het
Tmprss11e	T	A	5: 86,861,758 (GRCm39)	I263L	possibly damaging	Het
Tmtc4	T	C	14: 123,179,224 (GRCm39)		probably benign	Het
Tnfrsf22	T	A	7: 143,192,173 (GRCm39)	N171I	unknown	Het
Trpm3	A	G	19: 22,903,308 (GRCm39)	S1035G	probably damaging	Het
U2af1	C	T	17: 31,867,854 (GRCm39)	V72M	possibly damaging	Het
Uimc1	A	G	13: 55,233,447 (GRCm39)	C70R	possibly damaging	Het
Vmn2r83	A	G	10: 79,313,853 (GRCm39)	T154A	probably benign	Het
Xrn2	T	C	2: 146,871,304 (GRCm39)	I302T	probably damaging	Het
Zbtb6	A	G	2: 37,318,677 (GRCm39)	L417P	probably damaging	Het
Zdhhc14	C	T	17: 5,775,555 (GRCm39)	S269L	probably benign	Het
Zfp735	T	A	11: 73,602,699 (GRCm39)	F548I	possibly damaging	Het
Zfp809	T	C	9: 22,137,130 (GRCm39)		probably null	Het
Zranb3	A	T	1: 127,888,588 (GRCm39)	D832E	possibly damaging	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
R1518:Eno3	UTSW	11	70,551,903 (GRCm39)	nonsense	probably null
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

Predicted Primers

PCR Primer
(F):5'- TGGAAACAAGCTGGCCATGC -3'
(R):5'- GTTGCGGTAGAATTCAGACGC -3'

Sequencing Primer
(F):5'- CCATGCAGGAGTTCATGATTC -3'
(R):5'- GGTAGAATTCAGACGCAGCTACATC -3'

Posted On

2021-10-11