Mutagenetix > Incidental Mutation

Incidental Mutation 'R3983:Eno3'

350696

Institutional Source

Beutler Lab

Gene Symbol

Eno3

Ensembl Gene

ENSMUSG00000060600

Gene Name

enolase 3, beta muscle

Synonyms

Eno-3

MMRRC Submission

040944-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.815) question?

Stock #

R3983 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70548028-70553339 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70552237 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 296 (F296L)

Ref Sequence

ENSEMBL: ENSMUSP00000128714 (fasta)

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 damaging
Transcript: ENSMUST00000072841
AA Change: F296L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000072620
Gene: ENSMUSG00000060600
AA Change: F296L

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: ENSMUST00000108548
AA Change: F296L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104188
Gene: ENSMUSG00000060600
AA Change: F296L

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

unknown
Transcript: ENSMUST00000179055
AA Change: F76L

Predicted Effect

probably damaging
Transcript: ENSMUST00000170716
AA Change: F296L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128714
Gene: ENSMUSG00000060600
AA Change: F296L

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

Meta Mutation Damage Score

0.5193

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (65/65)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	A	11: 23,467,220 (GRCm39)	N138Y	possibly damaging	Het
4921504E06Rik	A	G	2: 19,547,180 (GRCm39)		probably null	Het
Abcc6	T	C	7: 45,644,713 (GRCm39)	I821V	probably benign	Het
Adam34	G	A	8: 44,103,806 (GRCm39)	T613I	probably benign	Het
Ap2b1	C	T	11: 83,281,542 (GRCm39)	T816M	probably damaging	Het
Cct2	G	A	10: 116,890,040 (GRCm39)	P10L	probably damaging	Het
Cdc23	C	A	18: 34,770,539 (GRCm39)		probably benign	Het
Chrna2	G	T	14: 66,386,906 (GRCm39)	V351L	probably benign	Het
Clca3a1	T	A	3: 144,461,070 (GRCm39)	T194S	probably benign	Het
Col18a1	C	A	10: 76,924,721 (GRCm39)	D23Y	probably damaging	Het
Cyp2c50	A	C	19: 40,101,962 (GRCm39)	K400T	possibly damaging	Het
Cyp2c54	G	T	19: 40,034,699 (GRCm39)	Q324K	possibly damaging	Het
Dcpp2	T	A	17: 24,119,547 (GRCm39)	Y120*	probably null	Het
Ddx11	C	T	17: 66,441,125 (GRCm39)	R242W	probably damaging	Het
Dnah7b	T	A	1: 46,272,871 (GRCm39)	V2333E	possibly damaging	Het
Duxf4	T	A	10: 58,071,623 (GRCm39)	N197I	possibly damaging	Het
Flnc	G	A	6: 29,442,940 (GRCm39)	V492M	probably damaging	Het
Gdap1	T	G	1: 17,230,131 (GRCm39)		probably benign	Het
Gm1587	C	T	14: 78,032,283 (GRCm39)	E118K	unknown	Het
Gprin3	T	C	6: 59,331,545 (GRCm39)	E254G	possibly damaging	Het
Hcrt	G	A	11: 100,652,679 (GRCm39)	R112C	probably damaging	Het
Hoxa4	A	T	6: 52,167,657 (GRCm39)	Y175N	probably benign	Het
Hydin	G	A	8: 111,118,957 (GRCm39)	G504R	probably damaging	Het
Il1rl1	A	G	1: 40,485,823 (GRCm39)	R325G	possibly damaging	Het
Kcp	A	T	6: 29,484,636 (GRCm39)	L1314Q	probably damaging	Het
Kdm5b	C	T	1: 134,559,042 (GRCm39)	P1522L	possibly damaging	Het
Kmt2d	T	G	15: 98,743,927 (GRCm39)		probably benign	Het
Map3k20	C	T	2: 72,268,571 (GRCm39)	T526I	probably damaging	Het
Mfap2	A	G	4: 140,741,554 (GRCm39)	Q71R	possibly damaging	Het
Mme	T	A	3: 63,235,485 (GRCm39)	Y178N	probably damaging	Het
Msr1	A	G	8: 40,073,059 (GRCm39)	V164A	possibly damaging	Het
Mybbp1a	T	C	11: 72,337,996 (GRCm39)	V646A	probably damaging	Het
Mybpc3	A	T	2: 90,965,714 (GRCm39)	K1175N	probably benign	Het
Myo1c	T	A	11: 75,552,325 (GRCm39)	L366Q	probably benign	Het
Or12d15	T	C	17: 37,694,289 (GRCm39)	V277A	possibly damaging	Het
Or1e22	A	G	11: 73,376,961 (GRCm39)	S230P	possibly damaging	Het
Or6f1	A	G	7: 85,970,942 (GRCm39)	Y73H	probably damaging	Het
Palmd	T	C	3: 116,717,472 (GRCm39)	T342A	probably benign	Het
Pde4d	A	G	13: 109,876,940 (GRCm39)	T29A	probably benign	Het
Rapgef5	A	G	12: 117,692,405 (GRCm39)	E563G	possibly damaging	Het
Rdh19	A	G	10: 127,686,017 (GRCm39)	N43S	probably benign	Het
Rnf44	A	C	13: 54,830,961 (GRCm39)	S98R	probably damaging	Het
Samhd1	C	A	2: 156,965,369 (GRCm39)	V149L	possibly damaging	Het
Scn4a	G	T	11: 106,238,644 (GRCm39)	N214K	probably damaging	Het
Sh3bp4	A	G	1: 89,073,591 (GRCm39)	N813S	probably benign	Het
Sirt3	A	T	7: 140,458,025 (GRCm39)	C41*	probably null	Het
Speg	C	A	1: 75,399,191 (GRCm39)	P2213T	probably benign	Het
Srcin1	T	G	11: 97,416,379 (GRCm39)	E951A	probably damaging	Het
Syn2	C	G	6: 115,214,259 (GRCm39)	T161S	probably benign	Het
Tbc1d4	T	C	14: 101,744,649 (GRCm39)	T326A	probably benign	Het
Tcstv2a	G	T	13: 120,725,815 (GRCm39)	A160S	possibly damaging	Het
Tes	T	A	6: 17,099,700 (GRCm39)		probably null	Het
Thoc2l	T	C	5: 104,668,889 (GRCm39)	V1137A	probably benign	Het
Tln1	T	C	4: 43,553,030 (GRCm39)	T354A	probably damaging	Het
Ttn	G	T	2: 76,632,705 (GRCm39)	S12370R	possibly damaging	Het
Twsg1	T	C	17: 66,236,758 (GRCm39)	T91A	probably benign	Het
Vmn1r181	C	T	7: 23,684,234 (GRCm39)	T233I	probably benign	Het
Wee2	A	T	6: 40,432,175 (GRCm39)	N248I	possibly damaging	Het
Zfp740	G	T	15: 102,116,678 (GRCm39)	C56F	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
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
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'- GTTACCTAGCATGGCTCTCAGC -3'
(R):5'- CTGAGGCTTGAGTAGGTCAG -3'

Sequencing Primer
(F):5'- GCATTTGGCTTTGTCACAATTC -3'
(R):5'- ACTCACGCCTGGATGGACTC -3'

Posted On

2015-10-08