Incidental Mutation 'IGL03133:Eno1'
| ID |
410420 |
| 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 # |
IGL03133
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
150321178-150333336 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 150329801 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 benign
Transcript: ENSMUST00000080926
|
| SMART Domains |
Protein: ENSMUSP00000079727
Gene: ENSMUSG00000063524
| 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 |
noncoding transcript
Transcript: ENSMUST00000133789
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133839
|
| SMART Domains |
Protein: ENSMUSP00000114361
Gene: ENSMUSG00000063524
| 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 |
noncoding transcript
Transcript: ENSMUST00000136310
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151057
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141931
|
| SMART Domains |
Protein: ENSMUSP00000120059
Gene: ENSMUSG00000063524
| Domain | Start | End | E-Value | Type |
|---|
|
Enolase_N
|
3 |
67 |
6.31e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150175
|
| SMART Domains |
Protein: ENSMUSP00000123695
Gene: ENSMUSG00000063524
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb1 |
T |
C |
10: 77,161,730 (GRCm39) |
|
probably benign |
Het |
| Ano5 |
C |
T |
7: 51,226,260 (GRCm39) |
R505* |
probably null |
Het |
| Asphd1 |
A |
G |
7: 126,547,452 (GRCm39) |
C284R |
possibly damaging |
Het |
| Cep192 |
T |
A |
18: 67,943,176 (GRCm39) |
W158R |
probably benign |
Het |
| Ces2h |
T |
A |
8: 105,743,411 (GRCm39) |
D188E |
probably damaging |
Het |
| Dab1 |
G |
A |
4: 104,584,777 (GRCm39) |
V306I |
probably benign |
Het |
| Dcc |
A |
G |
18: 71,396,026 (GRCm39) |
|
probably benign |
Het |
| Dennd6b |
T |
A |
15: 89,072,726 (GRCm39) |
|
probably null |
Het |
| Dmwd |
T |
A |
7: 18,810,562 (GRCm39) |
V123D |
probably damaging |
Het |
| Fat2 |
G |
A |
11: 55,176,869 (GRCm39) |
T1542I |
probably benign |
Het |
| Fcrl1 |
T |
C |
3: 87,296,699 (GRCm39) |
S274P |
probably benign |
Het |
| Gmpr |
T |
C |
13: 45,670,494 (GRCm39) |
V72A |
probably benign |
Het |
| Kank2 |
T |
C |
9: 21,706,937 (GRCm39) |
E27G |
probably null |
Het |
| Mtor |
G |
T |
4: 148,568,776 (GRCm39) |
A1099S |
probably benign |
Het |
| Ofcc1 |
T |
C |
13: 40,226,244 (GRCm39) |
I763V |
probably benign |
Het |
| Or5m10 |
G |
T |
2: 85,717,478 (GRCm39) |
E111D |
probably damaging |
Het |
| Or5p63 |
G |
T |
7: 107,811,594 (GRCm39) |
S47R |
possibly damaging |
Het |
| Or8b12i |
T |
A |
9: 20,082,009 (GRCm39) |
N286I |
probably damaging |
Het |
| Or8k27 |
A |
G |
2: 86,276,002 (GRCm39) |
I108T |
probably damaging |
Het |
| Piwil1 |
C |
A |
5: 128,819,093 (GRCm39) |
H201N |
probably benign |
Het |
| Slc26a7 |
C |
T |
4: 14,532,576 (GRCm39) |
V433M |
possibly damaging |
Het |
| Spata31d1c |
T |
C |
13: 65,182,799 (GRCm39) |
Y114H |
probably benign |
Het |
| Stx7 |
A |
T |
10: 24,060,936 (GRCm39) |
N221I |
probably damaging |
Het |
| Tbc1d31 |
A |
T |
15: 57,805,855 (GRCm39) |
|
probably benign |
Het |
| Ubxn7 |
T |
G |
16: 32,200,599 (GRCm39) |
L393R |
probably damaging |
Het |
| Vit |
A |
T |
17: 78,873,500 (GRCm39) |
M59L |
probably benign |
Het |
| Vmn1r5 |
T |
A |
6: 56,962,600 (GRCm39) |
C92S |
probably benign |
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 |
|
IGL01992:Eno1
|
APN |
4 |
150,323,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03114:Eno1
|
APN |
4 |
150,325,583 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
2016-08-02 |
Incidental Mutation