Incidental Mutation 'IGL02950:Eno2'
| ID |
364907 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Eno2
|
| Ensembl Gene |
ENSMUSG00000004267 |
| Gene Name |
enolase 2, gamma neuronal |
| Synonyms |
D6Ertd375e, NSE, Eno-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.191)
|
| Stock # |
IGL02950
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
124737018-124746489 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 124740081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 318
(D318E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004378
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004378]
[ENSMUST00000112476]
[ENSMUST00000127274]
[ENSMUST00000135626]
[ENSMUST00000204896]
[ENSMUST00000138770]
[ENSMUST00000151214]
[ENSMUST00000156033]
[ENSMUST00000149652]
|
| AlphaFold |
P17183 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000004378
AA Change: D318E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000004378
Gene: ENSMUSG00000004267
AA Change: D318E
| Domain | Start | End | E-Value | Type |
|---|
|
Enolase_N
|
3 |
134 |
2.62e-93 |
SMART |
|
Enolase_C
|
142 |
431 |
2.62e-207 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112476
AA Change: D199E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000108095
Gene: ENSMUSG00000004267
AA Change: D199E
| Domain | Start | End | E-Value | Type |
|---|
|
Enolase_N
|
3 |
118 |
2.39e-55 |
SMART |
|
Enolase_C
|
71 |
312 |
9.08e-120 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125436
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127274
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128598
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128701
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135626
|
| SMART Domains |
Protein: ENSMUSP00000114500
Gene: ENSMUSG00000004267
| Domain | Start | End | E-Value | Type |
|---|
|
Enolase_N
|
3 |
118 |
2.39e-55 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204896
AA Change: D275E
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000144861
Gene: ENSMUSG00000004267
AA Change: D275E
| Domain | Start | End | E-Value | Type |
|---|
|
Enolase_N
|
3 |
91 |
8e-52 |
SMART |
|
Enolase_C
|
99 |
388 |
1.3e-211 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139763
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138770
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147004
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147307
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151214
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156033
|
| SMART Domains |
Protein: ENSMUSP00000144698
Gene: ENSMUSG00000004267
| Domain | Start | End | E-Value | Type |
|---|
|
Enolase_N
|
3 |
58 |
5.2e-13 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146712
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149652
|
| SMART Domains |
Protein: ENSMUSP00000119112
Gene: ENSMUSG00000004267
| Domain | Start | End | E-Value | Type |
|---|
|
Enolase_N
|
3 |
134 |
2.62e-93 |
SMART |
|
Pfam:Enolase_C
|
142 |
162 |
4.2e-8 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme, a homodimer, is found in mature neurons and cells of neuronal origin. A switch from alpha enolase to gamma enolase occurs in neural tissue during development in rats and primates. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
A |
T |
19: 43,814,406 (GRCm39) |
S1129C |
possibly damaging |
Het |
| Afm |
A |
T |
5: 90,679,466 (GRCm39) |
D320V |
probably damaging |
Het |
| Ap5m1 |
C |
T |
14: 49,311,392 (GRCm39) |
T154I |
probably benign |
Het |
| Bcl11b |
G |
A |
12: 107,956,065 (GRCm39) |
T28I |
probably benign |
Het |
| Bhlhe40 |
G |
T |
6: 108,641,503 (GRCm39) |
C149F |
probably damaging |
Het |
| Bmper |
A |
T |
9: 23,310,790 (GRCm39) |
D408V |
probably damaging |
Het |
| C1rl |
G |
A |
6: 124,485,820 (GRCm39) |
C397Y |
probably damaging |
Het |
| C2cd4c |
A |
G |
10: 79,448,665 (GRCm39) |
S161P |
probably damaging |
Het |
| Cemip2 |
A |
T |
19: 21,819,564 (GRCm39) |
K1118N |
probably benign |
Het |
| Cep290 |
T |
C |
10: 100,376,191 (GRCm39) |
|
probably benign |
Het |
| Cp |
T |
C |
3: 20,042,165 (GRCm39) |
Y978H |
probably damaging |
Het |
| Csf2ra |
T |
C |
19: 61,215,607 (GRCm39) |
D37G |
probably benign |
Het |
| Ddx24 |
A |
G |
12: 103,383,801 (GRCm39) |
V596A |
probably damaging |
Het |
| Dnmt3l |
A |
G |
10: 77,886,785 (GRCm39) |
S82G |
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,331,753 (GRCm39) |
Y46C |
probably damaging |
Het |
| Gm43738 |
A |
C |
3: 88,996,355 (GRCm39) |
L120R |
probably damaging |
Het |
| Hgsnat |
C |
A |
8: 26,461,729 (GRCm39) |
C29F |
probably damaging |
Het |
| Hltf |
T |
A |
3: 20,130,736 (GRCm39) |
V318D |
probably benign |
Het |
| Kcnh8 |
A |
G |
17: 53,263,795 (GRCm39) |
H764R |
probably benign |
Het |
| Kcnq3 |
A |
G |
15: 65,892,142 (GRCm39) |
F411S |
probably benign |
Het |
| Lpcat4 |
C |
A |
2: 112,074,387 (GRCm39) |
N287K |
possibly damaging |
Het |
| Ltbp4 |
A |
C |
7: 27,006,143 (GRCm39) |
F1512V |
probably damaging |
Het |
| Mctp1 |
A |
T |
13: 77,172,929 (GRCm39) |
L868F |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,713,360 (GRCm39) |
|
probably benign |
Het |
| Or5g23 |
A |
T |
2: 85,438,501 (GRCm39) |
L251Q |
possibly damaging |
Het |
| Otub2 |
A |
G |
12: 103,369,632 (GRCm39) |
D237G |
probably damaging |
Het |
| Pax3 |
A |
G |
1: 78,079,997 (GRCm39) |
V463A |
probably benign |
Het |
| Podn |
T |
C |
4: 107,875,048 (GRCm39) |
K573R |
possibly damaging |
Het |
| Ppp5c |
A |
C |
7: 16,740,835 (GRCm39) |
S378A |
probably benign |
Het |
| Pramel29 |
A |
G |
4: 143,939,531 (GRCm39) |
V2A |
probably benign |
Het |
| Prl2a1 |
T |
A |
13: 27,988,914 (GRCm39) |
L13Q |
probably damaging |
Het |
| Ptgir |
A |
G |
7: 16,641,526 (GRCm39) |
T70A |
probably damaging |
Het |
| Ralyl |
C |
A |
3: 14,104,781 (GRCm39) |
N15K |
probably damaging |
Het |
| Rbck1 |
C |
T |
2: 152,172,997 (GRCm39) |
R17Q |
possibly damaging |
Het |
| Ryr1 |
A |
G |
7: 28,796,884 (GRCm39) |
Y973H |
probably damaging |
Het |
| Sh2d6 |
A |
G |
6: 72,492,285 (GRCm39) |
V260A |
probably damaging |
Het |
| Spen |
G |
A |
4: 141,196,819 (GRCm39) |
P3559S |
probably damaging |
Het |
| Tbcd |
T |
A |
11: 121,494,535 (GRCm39) |
V1032D |
probably damaging |
Het |
| Trav12-1 |
T |
A |
14: 53,776,024 (GRCm39) |
V59E |
probably damaging |
Het |
| Unc93a |
T |
A |
17: 13,344,455 (GRCm39) |
Q29L |
probably damaging |
Het |
| Zzef1 |
A |
G |
11: 72,808,525 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Eno2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01335:Eno2
|
APN |
6 |
124,743,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01777:Eno2
|
APN |
6 |
124,743,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02286:Eno2
|
APN |
6 |
124,743,543 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02723:Eno2
|
APN |
6 |
124,738,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02883:Eno2
|
APN |
6 |
124,743,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02956:Eno2
|
APN |
6 |
124,740,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03405:Eno2
|
APN |
6 |
124,740,848 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0389:Eno2
|
UTSW |
6 |
124,739,654 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0488:Eno2
|
UTSW |
6 |
124,740,837 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0662:Eno2
|
UTSW |
6 |
124,740,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2047:Eno2
|
UTSW |
6 |
124,744,659 (GRCm39) |
splice site |
probably benign |
|
|
R2081:Eno2
|
UTSW |
6 |
124,740,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4439:Eno2
|
UTSW |
6 |
124,739,922 (GRCm39) |
intron |
probably benign |
|
|
R4655:Eno2
|
UTSW |
6 |
124,740,889 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4672:Eno2
|
UTSW |
6 |
124,743,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5308:Eno2
|
UTSW |
6 |
124,744,056 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5778:Eno2
|
UTSW |
6 |
124,743,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6516:Eno2
|
UTSW |
6 |
124,738,672 (GRCm39) |
splice site |
probably null |
|
|
R6520:Eno2
|
UTSW |
6 |
124,744,678 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6768:Eno2
|
UTSW |
6 |
124,744,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7239:Eno2
|
UTSW |
6 |
124,745,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7631:Eno2
|
UTSW |
6 |
124,744,019 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7867:Eno2
|
UTSW |
6 |
124,740,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7898:Eno2
|
UTSW |
6 |
124,744,225 (GRCm39) |
splice site |
probably null |
|
|
R8346:Eno2
|
UTSW |
6 |
124,740,758 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9036:Eno2
|
UTSW |
6 |
124,740,091 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Posted On |
2015-12-18 |
Incidental Mutation