Incidental Mutation 'R3925:Eno1'
| ID |
308237 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
040916-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3925 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
150321178-150333336 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 150324025 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 null
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 |
probably null
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 |
probably null
Transcript: ENSMUST00000141931
|
| SMART Domains |
Protein: ENSMUSP00000120059
Gene: ENSMUSG00000063524
| Domain | Start | End | E-Value | Type |
|---|
|
Enolase_N
|
3 |
67 |
6.31e-14 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148605
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000150175
|
| SMART Domains |
Protein: ENSMUSP00000123695
Gene: ENSMUSG00000063524
| Domain | Start | End | E-Value | Type |
|---|
|
Enolase_N
|
3 |
119 |
2.31e-71 |
SMART |
|
| Meta Mutation Damage Score |
0.9500 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
97% (30/31) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
G |
A |
13: 81,726,891 (GRCm39) |
T487I |
possibly damaging |
Het |
| Amn |
T |
C |
12: 111,242,114 (GRCm39) |
V367A |
possibly damaging |
Het |
| Becn2 |
T |
C |
1: 175,748,852 (GRCm39) |
V306A |
probably benign |
Het |
| C230029F24Rik |
AGAAAG |
A |
1: 49,350,088 (GRCm39) |
|
noncoding transcript |
Het |
| Cdkl1 |
G |
T |
12: 69,803,373 (GRCm39) |
R168S |
probably damaging |
Het |
| Cfap43 |
T |
C |
19: 47,785,555 (GRCm39) |
K445R |
probably benign |
Het |
| Crct1 |
C |
A |
3: 92,922,014 (GRCm39) |
|
probably benign |
Het |
| Eif4e |
G |
A |
3: 138,261,198 (GRCm39) |
G164D |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,343,169 (GRCm39) |
R4565Q |
probably benign |
Het |
| Itgal |
A |
T |
7: 126,923,709 (GRCm39) |
|
probably benign |
Het |
| Klhl1 |
A |
T |
14: 96,584,316 (GRCm39) |
C305S |
possibly damaging |
Het |
| Ms4a2 |
A |
G |
19: 11,596,312 (GRCm39) |
M139T |
probably benign |
Het |
| Nr2e3 |
C |
T |
9: 59,855,716 (GRCm39) |
R213H |
probably damaging |
Het |
| Onecut2 |
A |
G |
18: 64,474,591 (GRCm39) |
K381E |
probably damaging |
Het |
| Or2t43 |
T |
A |
11: 58,457,652 (GRCm39) |
H173L |
probably benign |
Het |
| Or52n1 |
T |
A |
7: 104,383,396 (GRCm39) |
E58D |
probably benign |
Het |
| Or5t17 |
A |
G |
2: 86,832,718 (GRCm39) |
Y135C |
possibly damaging |
Het |
| Pabpc1l |
T |
A |
2: 163,869,596 (GRCm39) |
|
probably benign |
Het |
| Prim2 |
A |
G |
1: 33,572,380 (GRCm39) |
L253P |
probably damaging |
Het |
| Pycr1 |
T |
C |
11: 120,532,961 (GRCm39) |
T100A |
probably benign |
Het |
| Qrfpr |
T |
C |
3: 36,276,072 (GRCm39) |
N106S |
possibly damaging |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Selenoi |
T |
A |
5: 30,461,086 (GRCm39) |
D107E |
probably damaging |
Het |
| Synrg |
C |
T |
11: 83,931,725 (GRCm39) |
P1321S |
probably benign |
Het |
| Trgv7 |
A |
G |
13: 19,362,644 (GRCm39) |
Y111C |
probably damaging |
Het |
| Trp53rkb |
A |
G |
2: 166,637,392 (GRCm39) |
Y116C |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,293,640 (GRCm39) |
F245I |
probably benign |
Het |
| Utrn |
C |
T |
10: 12,573,786 (GRCm39) |
V1095I |
probably benign |
Het |
| Xpnpep1 |
T |
C |
19: 52,980,128 (GRCm39) |
H632R |
probably damaging |
Het |
| Zfp735 |
T |
C |
11: 73,601,950 (GRCm39) |
I298T |
probably benign |
Het |
| Zfp953 |
T |
A |
13: 67,496,002 (GRCm39) |
Y13F |
probably damaging |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCCATTTGGTACCTGTC -3'
(R):5'- AATTTGGAACTTGCCCTCCC -3'
Sequencing Primer
(F):5'- ATTTGGTACCTGTCAAGTCCAG -3'
(R):5'- CTTACTTCCCCGTCCCAGTGAAC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation