Mutagenetix > Incidental Mutation

Incidental Mutation 'R6917:Eno3'

539404

Institutional Source

Beutler Lab

Gene Symbol

Eno3

Ensembl Gene

ENSMUSG00000060600

Gene Name

enolase 3, beta muscle

Synonyms

Eno-3

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.794) question?

Stock #

R6917 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70657202-70662513 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70661436 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 305 (T305A)

Ref Sequence

ENSEMBL: ENSMUSP00000128714 (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

probably benign
Transcript: ENSMUST00000072841
AA Change: T305A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000072620
Gene: ENSMUSG00000060600
AA Change: T305A

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
AA Change: T305A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104188
Gene: ENSMUSG00000060600
AA Change: T305A

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

probably benign
Transcript: ENSMUST00000170716
AA Change: T305A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000128714
Gene: ENSMUSG00000060600
AA Change: T305A

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

Predicted Effect

Meta Mutation Damage Score

0.0641

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 95.6%

Validation Efficiency

96% (45/47)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	A	G	16: 56,617,321		probably null	Het
Adcy2	A	T	13: 68,620,757	M1084K	possibly damaging	Het
Ak1	A	G	2: 32,631,152	Y95C	possibly damaging	Het
Akap6	A	G	12: 53,069,168	E1018G	probably null	Het
Ccdc175	A	G	12: 72,184,905	S27P	probably damaging	Het
Ddx31	C	T	2: 28,892,409	T588I	probably damaging	Het
Dmxl1	T	C	18: 49,864,148	W504R	probably damaging	Het
Echs1	T	G	7: 140,110,011	M239L	probably benign	Het
Eno1b	A	G	18: 48,047,589	D278G	probably benign	Het
Gm5591	T	A	7: 38,522,190	S152C	probably damaging	Het
Gngt1	A	G	6: 3,996,680	D42G	probably benign	Het
Gpatch2l	G	A	12: 86,244,184	R47H	probably damaging	Het
H2-Aa	T	C	17: 34,283,707	T79A	probably damaging	Het
Ice1	A	T	13: 70,594,894	Y2116N	probably damaging	Het
Kdm6b	A	G	11: 69,406,593	M311T	probably benign	Het
L1td1	T	C	4: 98,734,031	F277L	probably benign	Het
Lamp1	T	C	8: 13,172,563	I249T	probably damaging	Het
Ldb3	G	A	14: 34,555,364	A351V	probably null	Het
Lmo7	A	G	14: 101,918,010	E996G	probably damaging	Het
Lsr	T	C	7: 30,958,296	D413G	possibly damaging	Het
Magel2	CCCTCCTCCTCCTCCTCCTCCT	CCCTCCTCCTCCTCCTCCT	7: 62,377,844		probably benign	Het
Myo7a	T	C	7: 98,095,763	E290G	possibly damaging	Het
Nos2	C	T	11: 78,951,227	T735M	possibly damaging	Het
Olfr1335	A	T	4: 118,809,129	L245H	probably damaging	Het
Olfr745	A	G	14: 50,643,223	K314R	possibly damaging	Het
Olfr957	T	A	9: 39,511,199	I174L	probably damaging	Het
Pik3c2g	T	C	6: 139,896,173	L768P	probably benign	Het
Plod2	T	A	9: 92,593,770	V302D	possibly damaging	Het
Ptgdr	A	T	14: 44,858,610	V215E	possibly damaging	Het
Rad51d	C	T	11: 82,879,333	R199Q	probably damaging	Het
Rsrc1	C	T	3: 66,994,649	P44L	unknown	Het
Rtel1	ATT	ATTTT	2: 181,338,277		probably null	Het
Sgip1	A	G	4: 102,968,191	R772G	probably damaging	Het
Slc19a2	C	A	1: 164,261,009	T141N	probably damaging	Het
Sp4	G	T	12: 118,299,173	N379K	probably damaging	Het
Thrap3	A	G	4: 126,180,492		probably benign	Het
Thumpd2	T	G	17: 81,044,114	I293L	probably benign	Het
Tjp1	A	G	7: 65,299,688	S1649P	probably damaging	Het
Tssk4	A	G	14: 55,652,407	S326G	probably benign	Het
Txndc9	A	C	1: 37,995,806	S6A	probably benign	Het
Uhrf1	T	C	17: 56,309,574	Y131H	probably damaging	Het
Vnn3	A	G	10: 23,865,934	D379G	possibly damaging	Het
Vsig2	T	A	9: 37,541,449	S105T	probably benign	Het
Zfp445	A	T	9: 122,862,294		probably null	Het
Zfp654	A	T	16: 64,786,471	M456K	probably damaging	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
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
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'- TCTGCGGTTACCTAGCATGG -3'
(R):5'- CTGAGGCTTGAGTAGGTCAG -3'

Sequencing Primer
(F):5'- GGTTACCTAGCATGGCTCTCAG -3'
(R):5'- TTGAGTAGGTCAGGGGCCC -3'

Posted On

2018-11-06