Incidental Mutation 'R5577:Eno1'
ID |
457964 |
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 |
043132-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5577 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
150321178-150333336 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 150331067 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 236
(Y236*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079727
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080149]
[ENSMUST00000080926]
[ENSMUST00000133839]
[ENSMUST00000141931]
[ENSMUST00000150175]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000080149
AA Change: Y168*
|
SMART Domains |
Protein: ENSMUSP00000079045 Gene: ENSMUSG00000063524 AA Change: Y168*
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
AA Change: Y236*
|
SMART Domains |
Protein: ENSMUSP00000079727 Gene: ENSMUSG00000063524 AA Change: Y236*
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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130023H24Rik |
A |
C |
7: 127,835,826 (GRCm39) |
Y256D |
probably damaging |
Het |
Acr |
C |
A |
15: 89,458,441 (GRCm39) |
T374K |
probably benign |
Het |
Akt2 |
G |
A |
7: 27,335,731 (GRCm39) |
G335R |
probably damaging |
Het |
Ccn3 |
T |
A |
15: 54,615,897 (GRCm39) |
I354N |
possibly damaging |
Het |
Cd177 |
A |
T |
7: 24,444,562 (GRCm39) |
F673Y |
probably damaging |
Het |
Clmn |
G |
T |
12: 104,743,329 (GRCm39) |
S879R |
probably damaging |
Het |
Csrp3 |
T |
C |
7: 48,489,225 (GRCm39) |
H19R |
possibly damaging |
Het |
Dmkn |
T |
C |
7: 30,463,971 (GRCm39) |
S137P |
probably damaging |
Het |
Enpp7 |
T |
A |
11: 118,882,953 (GRCm39) |
N342K |
probably benign |
Het |
Fancm |
T |
A |
12: 65,177,185 (GRCm39) |
|
probably benign |
Het |
Fshr |
A |
T |
17: 89,293,351 (GRCm39) |
D442E |
probably benign |
Het |
Gm3898 |
T |
A |
9: 43,741,362 (GRCm39) |
|
noncoding transcript |
Het |
Hdac7 |
A |
T |
15: 97,709,336 (GRCm39) |
S43T |
probably benign |
Het |
Herc1 |
T |
C |
9: 66,389,263 (GRCm39) |
C3927R |
probably damaging |
Het |
Klc4 |
G |
T |
17: 46,946,355 (GRCm39) |
A490D |
probably damaging |
Het |
Lcn9 |
T |
A |
2: 25,713,663 (GRCm39) |
I63N |
probably damaging |
Het |
Lgalsl |
G |
A |
11: 20,779,316 (GRCm39) |
Q110* |
probably null |
Het |
Lrp1b |
A |
T |
2: 40,765,135 (GRCm39) |
M2783K |
possibly damaging |
Het |
Lrrk2 |
A |
T |
15: 91,649,948 (GRCm39) |
Y1695F |
probably damaging |
Het |
Myo1e |
G |
A |
9: 70,277,753 (GRCm39) |
E817K |
probably benign |
Het |
Nav3 |
A |
T |
10: 109,605,264 (GRCm39) |
D936E |
probably damaging |
Het |
Necab3 |
T |
C |
2: 154,387,076 (GRCm39) |
|
probably null |
Het |
Nlrp1a |
T |
A |
11: 70,990,400 (GRCm39) |
I951F |
probably damaging |
Het |
Or5v1 |
T |
A |
17: 37,810,493 (GRCm39) |
I317K |
probably benign |
Het |
Or8b52 |
A |
G |
9: 38,576,297 (GRCm39) |
I281T |
possibly damaging |
Het |
Ppp2r5d |
T |
C |
17: 46,998,901 (GRCm39) |
S54G |
probably benign |
Het |
Prdx6 |
A |
G |
1: 161,071,255 (GRCm39) |
S146P |
probably damaging |
Het |
Sec24a |
A |
T |
11: 51,625,448 (GRCm39) |
H258Q |
probably benign |
Het |
Sec31a |
T |
C |
5: 100,550,133 (GRCm39) |
T194A |
possibly damaging |
Het |
Sqstm1 |
T |
C |
11: 50,098,266 (GRCm39) |
I167V |
probably benign |
Het |
Tas1r3 |
T |
C |
4: 155,946,522 (GRCm39) |
E361G |
probably benign |
Het |
Tlr1 |
T |
A |
5: 65,083,428 (GRCm39) |
Q383L |
possibly damaging |
Het |
Trappc8 |
G |
C |
18: 20,969,836 (GRCm39) |
Y1051* |
probably null |
Het |
Vmn2r2 |
T |
A |
3: 64,024,416 (GRCm39) |
M722L |
probably benign |
Het |
Vmn2r43 |
T |
C |
7: 8,247,811 (GRCm39) |
H784R |
probably damaging |
Het |
Zfp534 |
T |
G |
4: 147,759,173 (GRCm39) |
K499Q |
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 |
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 |
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 |
|
Posted On |
2017-02-16 |