Incidental Mutation 'R5778:Eno2'
| ID |
446809 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eno2
|
| Ensembl Gene |
ENSMUSG00000004267 |
| Gene Name |
enolase 2, gamma neuronal |
| Synonyms |
D6Ertd375e, NSE, Eno-2 |
| MMRRC Submission |
043376-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.191)
|
| Stock # |
R5778 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
124737018-124746489 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 124743261 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 158
(H158Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119112
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004378]
[ENSMUST00000032218]
[ENSMUST00000112475]
[ENSMUST00000112476]
[ENSMUST00000127274]
[ENSMUST00000149652]
[ENSMUST00000151214]
[ENSMUST00000204896]
[ENSMUST00000156033]
[ENSMUST00000138770]
[ENSMUST00000135626]
|
| AlphaFold |
P17183 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000004378
AA Change: H158Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000004378
Gene: ENSMUSG00000004267
AA Change: H158Q
| 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 benign
Transcript: ENSMUST00000032218
|
| SMART Domains |
Protein: ENSMUSP00000032218
Gene: ENSMUSG00000030125
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
12 |
40 |
N/A |
INTRINSIC |
|
Pfam:LRR_1
|
89 |
109 |
1.2e-2 |
PFAM |
|
LRR
|
196 |
217 |
1.33e2 |
SMART |
|
LRR
|
218 |
239 |
4.97e0 |
SMART |
|
LRR
|
241 |
263 |
3.27e1 |
SMART |
|
low complexity region
|
305 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
332 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112475
|
| SMART Domains |
Protein: ENSMUSP00000108094
Gene: ENSMUSG00000030125
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
12 |
40 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
90 |
182 |
7.1e-5 |
PROSPERO |
|
LRR
|
196 |
217 |
1.33e2 |
SMART |
|
LRR
|
218 |
239 |
4.97e0 |
SMART |
|
LRR
|
241 |
263 |
3.27e1 |
SMART |
|
low complexity region
|
305 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
332 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112476
|
| SMART Domains |
Protein: ENSMUSP00000108095
Gene: ENSMUSG00000004267
| 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 damaging
Transcript: ENSMUST00000149652
AA Change: H158Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119112
Gene: ENSMUSG00000004267
AA Change: H158Q
| Domain | Start | End | E-Value | Type |
|---|
|
Enolase_N
|
3 |
134 |
2.62e-93 |
SMART |
|
Pfam:Enolase_C
|
142 |
162 |
4.2e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151214
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204896
AA Change: H115Q
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000144861
Gene: ENSMUSG00000004267
AA Change: H115Q
| Domain | Start | End | E-Value | Type |
|---|
|
Enolase_N
|
3 |
91 |
8e-52 |
SMART |
|
Enolase_C
|
99 |
388 |
1.3e-211 |
SMART |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000139763
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132492
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128701
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147004
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147307
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138770
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acta1 |
A |
G |
8: 124,618,864 (GRCm39) |
S340P |
probably benign |
Het |
| Anpep |
T |
C |
7: 79,486,139 (GRCm39) |
T528A |
probably benign |
Het |
| Apob |
T |
A |
12: 8,065,074 (GRCm39) |
D4014E |
probably benign |
Het |
| Atp23 |
A |
G |
10: 126,735,451 (GRCm39) |
C78R |
probably damaging |
Het |
| Atp8b3 |
A |
G |
10: 80,356,007 (GRCm39) |
F1235S |
probably benign |
Het |
| B3gnt3 |
T |
C |
8: 72,145,582 (GRCm39) |
D262G |
probably benign |
Het |
| Bltp1 |
A |
T |
3: 37,012,863 (GRCm39) |
I1848F |
probably damaging |
Het |
| Brca1 |
G |
A |
11: 101,416,127 (GRCm39) |
A669V |
possibly damaging |
Het |
| Caprin2 |
A |
T |
6: 148,770,820 (GRCm39) |
S391R |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,583,326 (GRCm39) |
R43Q |
possibly damaging |
Het |
| Celsr1 |
A |
T |
15: 85,917,156 (GRCm39) |
N272K |
probably damaging |
Het |
| Cryzl2 |
T |
G |
1: 157,298,357 (GRCm39) |
S249A |
probably benign |
Het |
| Dsg1b |
A |
T |
18: 20,542,279 (GRCm39) |
T929S |
possibly damaging |
Het |
| Dusp16 |
G |
T |
6: 134,695,277 (GRCm39) |
T518N |
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,867,450 (GRCm39) |
D954G |
unknown |
Het |
| Erg28 |
T |
C |
12: 85,866,254 (GRCm39) |
T75A |
possibly damaging |
Het |
| Fam135b |
T |
A |
15: 71,350,881 (GRCm39) |
T332S |
probably damaging |
Het |
| Fam221b |
A |
G |
4: 43,660,683 (GRCm39) |
F357L |
probably damaging |
Het |
| Fcgr2b |
C |
T |
1: 170,790,957 (GRCm39) |
G279R |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,230,121 (GRCm39) |
L1679M |
probably damaging |
Het |
| Galm |
T |
A |
17: 80,435,146 (GRCm39) |
M1K |
probably null |
Het |
| Gsg1 |
A |
T |
6: 135,221,348 (GRCm39) |
I17N |
possibly damaging |
Het |
| Hif3a |
A |
T |
7: 16,785,909 (GRCm39) |
I129N |
probably damaging |
Het |
| Ighv1-11 |
A |
T |
12: 114,576,051 (GRCm39) |
W55R |
probably damaging |
Het |
| Ighv1-20 |
C |
A |
12: 114,687,497 (GRCm39) |
K82N |
probably benign |
Het |
| Igsf21 |
C |
T |
4: 139,764,832 (GRCm39) |
E148K |
probably benign |
Het |
| Il22b |
C |
A |
10: 118,130,768 (GRCm39) |
E43* |
probably null |
Het |
| Klhdc7b |
A |
T |
15: 89,271,523 (GRCm39) |
R802W |
probably damaging |
Het |
| Krt8 |
T |
C |
15: 101,912,374 (GRCm39) |
I101V |
probably damaging |
Het |
| Lrrc7 |
A |
G |
3: 157,876,380 (GRCm39) |
L570P |
probably damaging |
Het |
| Map4k1 |
C |
G |
7: 28,693,646 (GRCm39) |
N412K |
probably benign |
Het |
| Metrnl |
A |
T |
11: 121,605,564 (GRCm39) |
I118F |
possibly damaging |
Het |
| Mmp12 |
T |
A |
9: 7,350,106 (GRCm39) |
D202E |
probably damaging |
Het |
| Mpp2 |
A |
T |
11: 101,955,269 (GRCm39) |
S119T |
probably benign |
Het |
| Ncoa6 |
T |
C |
2: 155,248,688 (GRCm39) |
T1539A |
probably benign |
Het |
| Nlrc5 |
A |
G |
8: 95,206,154 (GRCm39) |
T715A |
possibly damaging |
Het |
| Nsd1 |
T |
A |
13: 55,454,792 (GRCm39) |
N1963K |
probably damaging |
Het |
| Nsd3 |
T |
C |
8: 26,149,834 (GRCm39) |
Y340H |
probably damaging |
Het |
| Nwd1 |
T |
A |
8: 73,419,745 (GRCm39) |
S977T |
probably damaging |
Het |
| Or5d39 |
T |
A |
2: 87,979,961 (GRCm39) |
Y134F |
probably damaging |
Het |
| Or7d10 |
G |
T |
9: 19,832,337 (GRCm39) |
M277I |
probably benign |
Het |
| Pcdh8 |
T |
C |
14: 80,008,197 (GRCm39) |
E122G |
probably damaging |
Het |
| Pcmtd2 |
A |
C |
2: 181,496,991 (GRCm39) |
T323P |
probably benign |
Het |
| Pign |
C |
A |
1: 105,519,447 (GRCm39) |
G492C |
probably damaging |
Het |
| Plppr3 |
A |
G |
10: 79,702,337 (GRCm39) |
V245A |
possibly damaging |
Het |
| Prl7a2 |
C |
T |
13: 27,844,983 (GRCm39) |
W134* |
probably null |
Het |
| Prom1 |
A |
T |
5: 44,164,389 (GRCm39) |
N722K |
probably benign |
Het |
| Rasal2 |
A |
T |
1: 156,988,860 (GRCm39) |
N663K |
probably damaging |
Het |
| Rgl1 |
G |
T |
1: 152,428,172 (GRCm39) |
H315Q |
probably benign |
Het |
| Smpdl3a |
C |
A |
10: 57,677,097 (GRCm39) |
A65E |
probably damaging |
Het |
| Spdye4b |
G |
A |
5: 143,188,142 (GRCm39) |
D212N |
probably damaging |
Het |
| Tafa3 |
T |
A |
3: 104,679,505 (GRCm39) |
K126N |
probably damaging |
Het |
| Tanc1 |
G |
T |
2: 59,529,691 (GRCm39) |
|
probably null |
Het |
| Trio |
A |
G |
15: 27,856,250 (GRCm39) |
V706A |
probably benign |
Het |
| Tshz1 |
T |
A |
18: 84,033,805 (GRCm39) |
Q201L |
probably damaging |
Het |
| Ubqln1 |
C |
T |
13: 58,331,131 (GRCm39) |
M365I |
probably benign |
Het |
| Usp42 |
A |
T |
5: 143,705,331 (GRCm39) |
Y383N |
probably damaging |
Het |
| Vmn1r189 |
A |
G |
13: 22,286,552 (GRCm39) |
I95T |
probably damaging |
Het |
| Vmn2r49 |
A |
T |
7: 9,710,274 (GRCm39) |
S819R |
probably damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCGTGAGACTCAGAGCTGG -3'
(R):5'- TGAGCACTGTACTTGCCCAG -3'
Sequencing Primer
(F):5'- CGCTGTTCTCCAGGATATTGG -3'
(R):5'- CATGCAACCAGGTGAGGGATG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation