Incidental Mutation 'R1675:Eno3'
| ID |
188011 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eno3
|
| Ensembl Gene |
ENSMUSG00000060600 |
| Gene Name |
enolase 3, beta muscle |
| Synonyms |
Eno-3 |
| MMRRC Submission |
039711-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.812)
|
| Stock # |
R1675 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
70548028-70553339 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 70549492 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128714
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018437]
[ENSMUST00000072841]
[ENSMUST00000072841]
[ENSMUST00000108548]
[ENSMUST00000108548]
[ENSMUST00000108548]
[ENSMUST00000108548]
[ENSMUST00000108549]
[ENSMUST00000126241]
[ENSMUST00000134087]
[ENSMUST00000170716]
[ENSMUST00000170716]
[ENSMUST00000157027]
[ENSMUST00000157027]
[ENSMUST00000178254]
|
| AlphaFold |
P21550 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018437
|
| SMART Domains |
Protein: ENSMUSP00000018437
Gene: ENSMUSG00000018293
| Domain | Start | End | E-Value | Type |
|---|
|
PROF
|
2 |
140 |
4.46e-58 |
SMART |
|
| Predicted Effect |
probably null
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 null
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 null
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 |
probably null
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 |
probably null
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 |
probably null
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 |
probably benign
Transcript: ENSMUST00000108549
|
| SMART Domains |
Protein: ENSMUSP00000104189
Gene: ENSMUSG00000018293
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Profilin
|
3 |
109 |
7e-24 |
PFAM |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000131642
|
| 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 null
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 |
probably null
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 |
probably null
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 null
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 |
noncoding transcript
Transcript: ENSMUST00000179738
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177669
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178254
|
| SMART Domains |
Protein: ENSMUSP00000136219
Gene: ENSMUSG00000018293
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Profilin
|
3 |
54 |
1.4e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179055
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.5%
- 20x: 93.1%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
C |
T |
1: 71,302,570 (GRCm39) |
|
probably null |
Het |
| Adam6b |
T |
C |
12: 113,454,664 (GRCm39) |
Y494H |
probably benign |
Het |
| Adamtsl2 |
GC |
G |
2: 26,972,497 (GRCm39) |
|
probably null |
Het |
| Anapc2 |
G |
A |
2: 25,162,651 (GRCm39) |
V42M |
possibly damaging |
Het |
| Aph1a |
T |
A |
3: 95,802,211 (GRCm39) |
D64E |
possibly damaging |
Het |
| Arhgef11 |
C |
T |
3: 87,638,518 (GRCm39) |
A1111V |
possibly damaging |
Het |
| Atoh1 |
T |
C |
6: 64,707,141 (GRCm39) |
S279P |
probably benign |
Het |
| Atp10b |
A |
G |
11: 43,116,475 (GRCm39) |
T941A |
probably damaging |
Het |
| Barhl1 |
C |
T |
2: 28,805,423 (GRCm39) |
R90Q |
possibly damaging |
Het |
| Calr3 |
T |
C |
8: 73,185,302 (GRCm39) |
D91G |
probably damaging |
Het |
| Ccdc148 |
T |
C |
2: 58,870,566 (GRCm39) |
D317G |
probably damaging |
Het |
| Cnn3 |
C |
T |
3: 121,250,818 (GRCm39) |
Q19* |
probably null |
Het |
| Cul5 |
T |
C |
9: 53,557,983 (GRCm39) |
D207G |
probably benign |
Het |
| Cyp4x1 |
T |
C |
4: 114,984,757 (GRCm39) |
E41G |
possibly damaging |
Het |
| Dagla |
T |
A |
19: 10,246,687 (GRCm39) |
M138L |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,106,523 (GRCm39) |
M1738K |
probably damaging |
Het |
| Eif4enif1 |
T |
A |
11: 3,165,686 (GRCm39) |
S88T |
probably benign |
Het |
| Erbb3 |
C |
A |
10: 128,407,073 (GRCm39) |
S1029I |
probably damaging |
Het |
| Erbin |
C |
A |
13: 103,977,686 (GRCm39) |
V624L |
probably damaging |
Het |
| Fam170b |
C |
T |
14: 32,557,359 (GRCm39) |
Q65* |
probably null |
Het |
| Gin1 |
T |
A |
1: 97,713,780 (GRCm39) |
L360* |
probably null |
Het |
| Gldc |
A |
T |
19: 30,120,853 (GRCm39) |
D359E |
probably damaging |
Het |
| Gpr107 |
A |
T |
2: 31,057,063 (GRCm39) |
T52S |
possibly damaging |
Het |
| Hip1r |
A |
G |
5: 124,132,883 (GRCm39) |
Y227C |
probably damaging |
Het |
| Hmgxb3 |
A |
G |
18: 61,268,631 (GRCm39) |
L1004P |
probably damaging |
Het |
| Hspa1l |
A |
G |
17: 35,196,419 (GRCm39) |
N153D |
probably damaging |
Het |
| Itga8 |
C |
A |
2: 12,204,974 (GRCm39) |
V488L |
probably damaging |
Het |
| Kcnk10 |
G |
A |
12: 98,462,547 (GRCm39) |
A134V |
probably benign |
Het |
| Kif18a |
T |
A |
2: 109,128,748 (GRCm39) |
C406S |
probably benign |
Het |
| Klhl28 |
A |
T |
12: 64,998,593 (GRCm39) |
S300R |
probably damaging |
Het |
| Kmt2e |
C |
T |
5: 23,687,451 (GRCm39) |
Q434* |
probably null |
Het |
| Lilrb4a |
A |
G |
10: 51,372,281 (GRCm39) |
T222A |
probably benign |
Het |
| Lipn |
G |
A |
19: 34,058,110 (GRCm39) |
R277Q |
probably damaging |
Het |
| Lrrc61 |
G |
A |
6: 48,545,708 (GRCm39) |
R177Q |
possibly damaging |
Het |
| Lrrc74a |
G |
A |
12: 86,787,800 (GRCm39) |
E144K |
probably damaging |
Het |
| Mal |
T |
C |
2: 127,476,964 (GRCm39) |
Y77C |
probably benign |
Het |
| Map1a |
T |
A |
2: 121,133,136 (GRCm39) |
C1079* |
probably null |
Het |
| Mbd5 |
T |
A |
2: 49,146,230 (GRCm39) |
S147T |
possibly damaging |
Het |
| Nsd2 |
T |
A |
5: 34,018,493 (GRCm39) |
M509K |
probably benign |
Het |
| Or13p4 |
C |
T |
4: 118,547,145 (GRCm39) |
R168H |
probably benign |
Het |
| Or1ad8 |
T |
C |
11: 50,898,464 (GRCm39) |
F222L |
probably benign |
Het |
| Or5an1c |
C |
T |
19: 12,218,195 (GRCm39) |
V277I |
probably benign |
Het |
| Or6p1 |
T |
C |
1: 174,258,663 (GRCm39) |
V223A |
probably benign |
Het |
| Rcor2 |
C |
T |
19: 7,247,546 (GRCm39) |
L45F |
probably damaging |
Het |
| Rpl12 |
T |
A |
2: 32,853,537 (GRCm39) |
D107E |
probably benign |
Het |
| Rpl7l1 |
A |
T |
17: 47,089,117 (GRCm39) |
F205I |
probably damaging |
Het |
| Samd4b |
C |
T |
7: 28,113,435 (GRCm39) |
G177R |
probably damaging |
Het |
| Sema4a |
A |
T |
3: 88,362,073 (GRCm39) |
F18I |
possibly damaging |
Het |
| Slc37a1 |
A |
T |
17: 31,557,048 (GRCm39) |
T405S |
probably damaging |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Syt14 |
T |
C |
1: 192,579,790 (GRCm39) |
D781G |
probably damaging |
Het |
| Tasor2 |
T |
C |
13: 3,619,507 (GRCm39) |
I2241M |
possibly damaging |
Het |
| Tprn |
T |
G |
2: 25,154,421 (GRCm39) |
D574E |
probably benign |
Het |
| Trim75 |
T |
A |
8: 65,435,163 (GRCm39) |
E429V |
probably damaging |
Het |
| Trit1 |
C |
T |
4: 122,948,029 (GRCm39) |
R450C |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Unc13c |
A |
G |
9: 73,546,332 (GRCm39) |
|
probably null |
Het |
| Usp49 |
C |
A |
17: 47,984,335 (GRCm39) |
L447I |
probably damaging |
Het |
| Vmn1r20 |
T |
C |
6: 57,408,937 (GRCm39) |
C88R |
probably benign |
Het |
| Zfp94 |
T |
A |
7: 24,002,259 (GRCm39) |
K394N |
probably 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 |
|
|
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'- TCCTGCTCTGCTGGAAAAGGCAAG -3'
(R):5'- TCATCCCTGGGCCAAGAGTTTCAC -3'
Sequencing Primer
(F):5'- GTGACCCCGTGCCTTCC -3'
(R):5'- AAAGGCTACCCAGTTACGGT -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation