Incidental Mutation 'IGL01992:Eno1'
| ID |
183549 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Eno1
|
| Ensembl Gene |
ENSMUSG00000063524 |
| Gene Name |
enolase 1, alpha non-neuron |
| Synonyms |
c-Myc promoter binding protein, 2-phospho-D-glycerate hydrolase, alpha-enolase, MBP-1, Eno-1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01992
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
150321178-150333336 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 150323993 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 19
(T19A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123695
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080149]
[ENSMUST00000080926]
[ENSMUST00000133839]
[ENSMUST00000141931]
[ENSMUST00000150175]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080149
|
| SMART Domains |
Protein: ENSMUSP00000079045
Gene: ENSMUSG00000063524
| Domain | Start | End | E-Value | Type |
|---|
|
Enolase_N
|
1 |
66 |
2.91e-6 |
SMART |
|
Enolase_C
|
74 |
363 |
1.22e-207 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080926
AA Change: T19A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079727
Gene: ENSMUSG00000063524
AA Change: T19A
| Domain | Start | End | E-Value | Type |
|---|
|
Enolase_N
|
3 |
134 |
4.75e-91 |
SMART |
|
Enolase_C
|
142 |
431 |
1.22e-207 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130632
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133839
AA Change: T19A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114361
Gene: ENSMUSG00000063524
AA Change: T19A
| Domain | Start | End | E-Value | Type |
|---|
|
Enolase_N
|
3 |
134 |
7.66e-86 |
SMART |
|
Enolase_C
|
142 |
221 |
2e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135063
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141931
AA Change: T19A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120059
Gene: ENSMUSG00000063524
AA Change: T19A
| Domain | Start | End | E-Value | Type |
|---|
|
Enolase_N
|
3 |
67 |
6.31e-14 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148605
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000150175
AA Change: T19A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123695
Gene: ENSMUSG00000063524
AA Change: T19A
| Domain | Start | End | E-Value | Type |
|---|
|
Enolase_N
|
3 |
119 |
2.31e-71 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous animals exhibit growth arrest and embryonic lethality at approximately E6.5. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(59) : Targeted, knock-out(1) Gene trapped(58)
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano3 |
A |
G |
2: 110,488,564 (GRCm39) |
M956T |
probably damaging |
Het |
| Ap2b1 |
T |
G |
11: 83,226,356 (GRCm39) |
V289G |
probably damaging |
Het |
| Cacnb4 |
G |
T |
2: 52,355,682 (GRCm39) |
H208Q |
probably damaging |
Het |
| Calhm6 |
A |
T |
10: 34,003,533 (GRCm39) |
C125S |
probably damaging |
Het |
| Cd5l |
G |
A |
3: 87,275,118 (GRCm39) |
R219Q |
probably benign |
Het |
| Dzip1l |
G |
T |
9: 99,545,739 (GRCm39) |
G663W |
probably damaging |
Het |
| Ecel1 |
G |
A |
1: 87,077,577 (GRCm39) |
|
probably benign |
Het |
| Fndc3a |
G |
A |
14: 72,811,996 (GRCm39) |
T315I |
probably benign |
Het |
| Galr1 |
T |
C |
18: 82,411,942 (GRCm39) |
N308S |
probably damaging |
Het |
| Get3 |
G |
A |
8: 85,745,185 (GRCm39) |
A294V |
possibly damaging |
Het |
| Maf |
A |
T |
8: 116,432,702 (GRCm39) |
S301T |
probably damaging |
Het |
| Map3k5 |
C |
T |
10: 19,904,879 (GRCm39) |
R394* |
probably null |
Het |
| Mroh8 |
C |
T |
2: 157,055,616 (GRCm39) |
G994D |
probably damaging |
Het |
| Myo10 |
T |
C |
15: 25,799,634 (GRCm39) |
V653A |
possibly damaging |
Het |
| Nucks1 |
A |
G |
1: 131,858,828 (GRCm39) |
K196E |
unknown |
Het |
| Nup42 |
T |
C |
5: 24,386,101 (GRCm39) |
V211A |
probably benign |
Het |
| Or4n4 |
C |
A |
14: 50,518,798 (GRCm39) |
R304L |
probably benign |
Het |
| Or7e178 |
A |
T |
9: 20,226,015 (GRCm39) |
I59N |
probably damaging |
Het |
| Or7g32 |
A |
T |
9: 19,408,070 (GRCm39) |
I9F |
probably benign |
Het |
| Piwil1 |
C |
T |
5: 128,824,396 (GRCm39) |
T493I |
probably null |
Het |
| Plcd1 |
T |
C |
9: 118,905,053 (GRCm39) |
H216R |
probably benign |
Het |
| Pmp2 |
A |
T |
3: 10,247,541 (GRCm39) |
Y49* |
probably null |
Het |
| Rnf38 |
A |
G |
4: 44,138,806 (GRCm39) |
V229A |
probably damaging |
Het |
| Saxo2 |
T |
C |
7: 82,284,108 (GRCm39) |
D250G |
probably damaging |
Het |
| Scn8a |
T |
G |
15: 100,866,938 (GRCm39) |
V98G |
probably damaging |
Het |
| Scnn1a |
T |
A |
6: 125,315,900 (GRCm39) |
|
probably null |
Het |
| Sepsecs |
C |
T |
5: 52,801,402 (GRCm39) |
R420Q |
probably benign |
Het |
| Slit2 |
T |
C |
5: 48,395,759 (GRCm39) |
S725P |
probably benign |
Het |
| Stk16 |
A |
G |
1: 75,189,835 (GRCm39) |
Q207R |
probably benign |
Het |
| Tapt1 |
C |
T |
5: 44,336,332 (GRCm39) |
V446M |
probably damaging |
Het |
| Tent5c |
A |
T |
3: 100,379,946 (GRCm39) |
M270K |
probably damaging |
Het |
| Tex56 |
C |
T |
13: 35,108,516 (GRCm39) |
|
probably null |
Het |
| Tnni3k |
A |
C |
3: 154,667,663 (GRCm39) |
V250G |
probably damaging |
Het |
| Ttll8 |
C |
T |
15: 88,799,848 (GRCm39) |
G531E |
possibly damaging |
Het |
| U2surp |
T |
A |
9: 95,346,472 (GRCm39) |
E862D |
possibly damaging |
Het |
| U2surp |
A |
G |
9: 95,364,234 (GRCm39) |
F561L |
probably damaging |
Het |
| Unc5d |
A |
G |
8: 29,142,819 (GRCm39) |
Y878H |
probably damaging |
Het |
| Ust |
A |
G |
10: 8,173,842 (GRCm39) |
M221T |
probably benign |
Het |
| Wasf3 |
T |
C |
5: 146,392,401 (GRCm39) |
F157S |
probably damaging |
Het |
| Wdr64 |
G |
A |
1: 175,533,637 (GRCm39) |
C91Y |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,422,368 (GRCm39) |
Y2750C |
unknown |
Het |
|
| Other mutations in Eno1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01767:Eno1
|
APN |
4 |
150,331,167 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03114:Eno1
|
APN |
4 |
150,325,583 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03133:Eno1
|
APN |
4 |
150,329,801 (GRCm39) |
unclassified |
probably benign |
|
|
B5639:Eno1
|
UTSW |
4 |
150,329,569 (GRCm39) |
unclassified |
probably benign |
|
|
R1387:Eno1
|
UTSW |
4 |
150,332,590 (GRCm39) |
unclassified |
probably benign |
|
|
R1957:Eno1
|
UTSW |
4 |
150,331,232 (GRCm39) |
splice site |
probably null |
|
|
R3835:Eno1
|
UTSW |
4 |
150,331,119 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3925:Eno1
|
UTSW |
4 |
150,324,025 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4178:Eno1
|
UTSW |
4 |
150,328,490 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5577:Eno1
|
UTSW |
4 |
150,331,067 (GRCm39) |
nonsense |
probably null |
|
|
R5790:Eno1
|
UTSW |
4 |
150,329,710 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6369:Eno1
|
UTSW |
4 |
150,324,025 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6377:Eno1
|
UTSW |
4 |
150,333,009 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7305:Eno1
|
UTSW |
4 |
150,329,796 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8116:Eno1
|
UTSW |
4 |
150,325,526 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8342:Eno1
|
UTSW |
4 |
150,329,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9203:Eno1
|
UTSW |
4 |
150,332,539 (GRCm39) |
nonsense |
probably null |
|
|
R9441:Eno1
|
UTSW |
4 |
150,321,208 (GRCm39) |
start gained |
probably benign |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation