Incidental Mutation 'R3835:Eno1'
| ID |
275581 |
| 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 |
040890-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3835 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
150321178-150333336 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 150331119 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 186
(S186P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079045
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080149]
[ENSMUST00000080926]
[ENSMUST00000133839]
[ENSMUST00000150175]
[ENSMUST00000141931]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080149
AA Change: S186P
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000079045
Gene: ENSMUSG00000063524
AA Change: S186P
| 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
AA Change: S254P
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000079727
Gene: ENSMUSG00000063524
AA Change: S254P
| 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: ENSMUST00000150175
|
| SMART Domains |
Protein: ENSMUSP00000123695
Gene: ENSMUSG00000063524
| Domain | Start | End | E-Value | Type |
|---|
|
Enolase_N
|
3 |
119 |
2.31e-71 |
SMART |
|
| 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 |
|
| Meta Mutation Damage Score |
0.0800 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (43/44) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
T |
C |
3: 151,216,254 (GRCm39) |
I479T |
probably damaging |
Het |
| Adh6a |
G |
A |
3: 138,033,275 (GRCm39) |
|
probably null |
Het |
| Anapc7 |
A |
G |
5: 122,581,940 (GRCm39) |
T528A |
possibly damaging |
Het |
| Ap5b1 |
A |
G |
19: 5,618,918 (GRCm39) |
T113A |
possibly damaging |
Het |
| Apaf1 |
G |
A |
10: 90,895,449 (GRCm39) |
R439C |
probably benign |
Het |
| Apoa5 |
A |
T |
9: 46,181,878 (GRCm39) |
H318L |
probably damaging |
Het |
| Bltp2 |
A |
G |
11: 78,169,911 (GRCm39) |
R1545G |
probably benign |
Het |
| Btnl9 |
T |
G |
11: 49,071,512 (GRCm39) |
T104P |
probably damaging |
Het |
| Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
| Dennd5a |
T |
C |
7: 109,533,449 (GRCm39) |
K107R |
probably benign |
Het |
| Dthd1 |
A |
T |
5: 63,007,128 (GRCm39) |
R610W |
probably damaging |
Het |
| Gipc2 |
C |
A |
3: 151,833,823 (GRCm39) |
V153F |
probably damaging |
Het |
| Gpt |
A |
G |
15: 76,582,783 (GRCm39) |
Y295C |
probably damaging |
Het |
| Kcnh5 |
T |
A |
12: 74,945,044 (GRCm39) |
Q735L |
probably benign |
Het |
| Lrrc10 |
A |
G |
10: 116,881,691 (GRCm39) |
N122D |
possibly damaging |
Het |
| Lrrc37 |
C |
A |
11: 103,510,836 (GRCm39) |
L377F |
unknown |
Het |
| Meis2 |
T |
C |
2: 115,752,228 (GRCm39) |
H301R |
probably damaging |
Het |
| Muc5b |
A |
T |
7: 141,412,918 (GRCm39) |
I1955F |
unknown |
Het |
| Nalcn |
A |
T |
14: 123,530,834 (GRCm39) |
|
probably benign |
Het |
| Nmt2 |
T |
C |
2: 3,315,723 (GRCm39) |
|
probably benign |
Het |
| Nnt |
C |
T |
13: 119,509,031 (GRCm39) |
G403R |
probably damaging |
Het |
| Or4a79 |
T |
G |
2: 89,551,799 (GRCm39) |
I219L |
possibly damaging |
Het |
| Or4d6 |
T |
A |
19: 12,086,764 (GRCm39) |
I49F |
possibly damaging |
Het |
| Or5b109 |
A |
T |
19: 13,212,103 (GRCm39) |
D163V |
probably benign |
Het |
| Ovgp1 |
A |
G |
3: 105,893,631 (GRCm39) |
E468G |
probably benign |
Het |
| Pax6 |
G |
A |
2: 105,526,795 (GRCm39) |
E234K |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,609,810 (GRCm39) |
E3138G |
probably damaging |
Het |
| Prmt6 |
T |
C |
3: 110,158,121 (GRCm39) |
D56G |
possibly damaging |
Het |
| Ptprt |
A |
G |
2: 161,389,307 (GRCm39) |
V1261A |
probably damaging |
Het |
| Qtrt2 |
A |
G |
16: 43,701,435 (GRCm39) |
S42P |
probably damaging |
Het |
| Rab9b |
C |
T |
X: 135,762,259 (GRCm39) |
R47Q |
possibly damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,384,710 (GRCm39) |
E606G |
probably damaging |
Het |
| Setx |
C |
T |
2: 29,035,072 (GRCm39) |
S519L |
possibly damaging |
Het |
| Slc15a2 |
A |
T |
16: 36,592,490 (GRCm39) |
C191* |
probably null |
Het |
| Snrk |
T |
C |
9: 121,966,069 (GRCm39) |
|
probably benign |
Het |
| St6galnac1 |
T |
C |
11: 116,657,109 (GRCm39) |
D422G |
probably damaging |
Het |
| Stag1 |
C |
T |
9: 100,620,035 (GRCm39) |
T46I |
probably damaging |
Het |
| Tagln |
T |
C |
9: 45,843,008 (GRCm39) |
I18V |
probably benign |
Het |
| Tasor2 |
T |
C |
13: 3,625,292 (GRCm39) |
T1553A |
probably benign |
Het |
| Tbx18 |
C |
A |
9: 87,611,689 (GRCm39) |
A114S |
probably benign |
Het |
| Ttc16 |
T |
C |
2: 32,659,322 (GRCm39) |
D259G |
probably damaging |
Het |
| Vldlr |
A |
G |
19: 27,212,214 (GRCm39) |
D76G |
probably damaging |
Het |
| Vmn2r24 |
G |
T |
6: 123,764,412 (GRCm39) |
D430Y |
probably benign |
Het |
| Xlr3a |
T |
C |
X: 72,138,644 (GRCm39) |
E5G |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGAGTGCAGTCTGCTCTG -3'
(R):5'- AAGCACGAATCAAATCCTTTGCTC -3'
Sequencing Primer
(F):5'- TGGGACAGTCTCGGCAG -3'
(R):5'- ATCCATCTCTACAGAAGGACTGGTG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation