Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02479:Eno3'

295135

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eno3

Ensembl Gene

ENSMUSG00000060600

Gene Name

enolase 3, beta muscle

Synonyms

Eno-3

Accession Numbers

Essential gene?

Probably essential (E-score: 0.812) question?

Stock #

IGL02479

Quality Score

Status

Chromosome

Chromosomal Location

70548028-70553339 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 70551714 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

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 benign
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 benign
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

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 benign
Transcript: ENSMUST00000179055

Predicted Effect

probably benign
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: ENSMUST00000137691

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179738

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

probably benign
Transcript: ENSMUST00000134087

SMART Domains

Protein: ENSMUSP00000121640
Gene: ENSMUSG00000060600

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

Coding Region Coverage

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	T	C	5: 121,639,461 (GRCm39)	Y528C	probably damaging	Het
Adam24	T	A	8: 41,132,571 (GRCm39)	I13N	probably benign	Het
Arsj	T	C	3: 126,232,588 (GRCm39)	S445P	possibly damaging	Het
Btf3l4	G	A	4: 108,683,373 (GRCm39)	T31I	possibly damaging	Het
Cask	A	T	X: 13,423,297 (GRCm39)	D502E	probably damaging	Het
Cenpl	T	A	1: 160,910,637 (GRCm39)	S195T	probably benign	Het
Clhc1	T	A	11: 29,528,107 (GRCm39)	I545N	probably damaging	Het
Clrn2	T	C	5: 45,621,254 (GRCm39)	I216T	probably benign	Het
Csf2rb	C	T	15: 78,225,924 (GRCm39)	Q332*	probably null	Het
Cyp3a44	T	C	5: 145,727,477 (GRCm39)	D284G	probably benign	Het
Dgka	T	C	10: 128,566,115 (GRCm39)	E345G	probably benign	Het
Dync1i2	G	A	2: 71,066,323 (GRCm39)	V128I	probably damaging	Het
Epc2	T	A	2: 49,422,147 (GRCm39)	I347K	probably benign	Het
F8	A	T	X: 74,331,846 (GRCm39)	N681K	probably damaging	Het
Fancm	T	A	12: 65,153,259 (GRCm39)	D1238E	probably damaging	Het
Fcna	T	A	2: 25,515,272 (GRCm39)	Q237L	probably benign	Het
Fpr2	A	T	17: 18,113,074 (GRCm39)	R23S	probably benign	Het
Frmd3	A	G	4: 74,105,752 (GRCm39)	D466G	probably benign	Het
Gen1	C	A	12: 11,291,936 (GRCm39)	V618L	probably benign	Het
Gja4	T	C	4: 127,206,217 (GRCm39)	E182G	probably benign	Het
Gsdmc	T	A	15: 63,649,824 (GRCm39)	I356F	possibly damaging	Het
Kctd19	T	C	8: 106,111,400 (GRCm39)	D102G	probably damaging	Het
Lrit2	T	C	14: 36,794,235 (GRCm39)	L433P	probably damaging	Het
Lrp2	G	A	2: 69,295,145 (GRCm39)		probably benign	Het
Luc7l3	G	A	11: 94,187,735 (GRCm39)		probably benign	Het
Map3k5	T	A	10: 19,932,230 (GRCm39)	L458Q	probably damaging	Het
Mast4	A	G	13: 102,878,545 (GRCm39)	S1038P	probably damaging	Het
Med12	A	T	X: 100,340,598 (GRCm39)		probably benign	Het
Mtor	T	A	4: 148,555,041 (GRCm39)	L888M	probably damaging	Het
Nova1	A	T	12: 46,863,701 (GRCm39)	I83N	unknown	Het
Obscn	A	G	11: 58,947,053 (GRCm39)		probably benign	Het
Or11q2	T	C	X: 48,772,742 (GRCm39)	V121A	probably benign	Het
Or4d10c	T	A	19: 12,065,269 (GRCm39)	M296L	probably benign	Het
Or4f15	A	C	2: 111,813,730 (GRCm39)	S230A	probably benign	Het
Or6k2	C	A	1: 173,986,520 (GRCm39)	Y60*	probably null	Het
Pde2a	A	G	7: 101,150,290 (GRCm39)	Y243C	probably damaging	Het
Pdzd8	T	A	19: 59,288,215 (GRCm39)	K1062*	probably null	Het
Phc1	A	T	6: 122,300,676 (GRCm39)		probably benign	Het
Pik3c2g	T	A	6: 139,863,730 (GRCm39)	S764T	probably benign	Het
Pmp2	T	G	3: 10,247,262 (GRCm39)	R89S	probably benign	Het
Prdm2	A	G	4: 142,861,499 (GRCm39)	L597P	probably damaging	Het
Rfx6	T	A	10: 51,554,424 (GRCm39)	D88E	probably benign	Het
Rgs9	T	C	11: 109,116,478 (GRCm39)	S442G	possibly damaging	Het
Ror2	C	T	13: 53,285,968 (GRCm39)	R82Q	possibly damaging	Het
Sez6	C	A	11: 77,868,852 (GRCm39)	A986E	possibly damaging	Het
Slc5a5	T	A	8: 71,341,555 (GRCm39)	M325L	possibly damaging	Het
Slx9	T	C	10: 77,350,161 (GRCm39)	S76G	probably damaging	Het
Sppl2c	G	A	11: 104,077,763 (GRCm39)	V188I	probably benign	Het
Srrm3	G	T	5: 135,864,103 (GRCm39)	C67F	probably damaging	Het
Stk31	A	G	6: 49,398,622 (GRCm39)	E341G	probably damaging	Het
Svil	A	T	18: 5,099,476 (GRCm39)	M1267L	probably damaging	Het
Tas2r135	C	T	6: 42,382,685 (GRCm39)	R75*	probably null	Het
Trav8d-1	T	C	14: 53,016,257 (GRCm39)	S48P	probably benign	Het
Vrk1	A	T	12: 106,017,261 (GRCm39)	Q95L	probably benign	Het
Wdr25	C	A	12: 108,864,527 (GRCm39)	T224K	probably benign	Het
Wdr37	A	T	13: 8,892,820 (GRCm39)	H224Q	probably damaging	Het
Zhx1	C	T	15: 57,917,767 (GRCm39)	E160K	probably damaging	Het

Other mutations in Eno3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R8969:Eno3	UTSW	11	70,551,691 (GRCm39)	missense	possibly damaging	0.84

Posted On

2015-04-16