Incidental Mutation 'IGL02723:Eno2'
| ID |
305057 |
| 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 # |
IGL02723
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
124737018-124746489 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 124738626 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 364
(Y364C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144861
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004378]
[ENSMUST00000112476]
[ENSMUST00000127274]
[ENSMUST00000135626]
[ENSMUST00000138770]
[ENSMUST00000204896]
[ENSMUST00000151214]
[ENSMUST00000149652]
|
| AlphaFold |
P17183 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000004378
AA Change: Y407C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000004378
Gene: ENSMUSG00000004267
AA Change: Y407C
| 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: Y288C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108095
Gene: ENSMUSG00000004267
AA Change: Y288C
| 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 |
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 benign
Transcript: ENSMUST00000138770
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204896
AA Change: Y364C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144861
Gene: ENSMUSG00000004267
AA Change: Y364C
| 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 |
noncoding transcript
Transcript: ENSMUST00000146712
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147307
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151214
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Capn9 |
A |
T |
8: 125,335,922 (GRCm39) |
|
probably benign |
Het |
| Cchcr1 |
A |
C |
17: 35,841,699 (GRCm39) |
K761Q |
probably benign |
Het |
| Cfap20dc |
T |
C |
14: 8,516,507 (GRCm38) |
N347S |
probably benign |
Het |
| Csk |
G |
T |
9: 57,538,672 (GRCm39) |
|
probably benign |
Het |
| Cyp2j7 |
T |
C |
4: 96,118,366 (GRCm39) |
K76E |
probably benign |
Het |
| Dpep1 |
G |
A |
8: 123,920,888 (GRCm39) |
A23T |
possibly damaging |
Het |
| Dpp8 |
T |
A |
9: 64,949,549 (GRCm39) |
M98K |
possibly damaging |
Het |
| Dspp |
C |
A |
5: 104,323,041 (GRCm39) |
N61K |
probably benign |
Het |
| Gfra1 |
A |
G |
19: 58,441,683 (GRCm39) |
S83P |
probably benign |
Het |
| Gramd1b |
T |
C |
9: 40,218,127 (GRCm39) |
E563G |
probably damaging |
Het |
| Kcns2 |
G |
T |
15: 34,838,961 (GRCm39) |
W108L |
probably damaging |
Het |
| Mroh4 |
T |
C |
15: 74,480,086 (GRCm39) |
|
probably benign |
Het |
| Obscn |
A |
T |
11: 59,015,446 (GRCm39) |
S1009T |
probably benign |
Het |
| Or2y11 |
A |
G |
11: 49,443,506 (GRCm39) |
R311G |
probably benign |
Het |
| Or5b119 |
A |
G |
19: 13,456,699 (GRCm39) |
Y288H |
probably damaging |
Het |
| Or7g32 |
T |
C |
9: 19,388,805 (GRCm39) |
H244R |
probably damaging |
Het |
| Or8b41 |
A |
G |
9: 38,054,707 (GRCm39) |
K92R |
probably benign |
Het |
| Plcb2 |
G |
A |
2: 118,547,500 (GRCm39) |
|
probably benign |
Het |
| Rpl13a-ps1 |
T |
A |
19: 50,019,111 (GRCm39) |
I22F |
possibly damaging |
Het |
| Skil |
A |
G |
3: 31,171,673 (GRCm39) |
E599G |
probably damaging |
Het |
| Snx19 |
A |
G |
9: 30,343,556 (GRCm39) |
N572S |
possibly damaging |
Het |
| Spata31 |
T |
C |
13: 65,068,463 (GRCm39) |
S204P |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tenm3 |
A |
T |
8: 48,729,938 (GRCm39) |
V1356E |
probably benign |
Het |
| Trpc3 |
T |
A |
3: 36,704,377 (GRCm39) |
I527F |
probably benign |
Het |
| Vmn2r69 |
A |
G |
7: 85,059,416 (GRCm39) |
W498R |
probably damaging |
Het |
| Vwde |
T |
A |
6: 13,205,759 (GRCm39) |
I263L |
probably damaging |
Het |
| Vwf |
G |
T |
6: 125,619,893 (GRCm39) |
V1524L |
possibly damaging |
Het |
| Wdr55 |
A |
G |
18: 36,896,435 (GRCm39) |
E375G |
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 |
|
IGL02883:Eno2
|
APN |
6 |
124,743,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02950:Eno2
|
APN |
6 |
124,740,081 (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 |
2015-04-16 |
Incidental Mutation