Incidental Mutation 'R2047:Eno2'
| ID |
222097 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eno2
|
| Ensembl Gene |
ENSMUSG00000004267 |
| Gene Name |
enolase 2, gamma neuronal |
| Synonyms |
D6Ertd375e, NSE, Eno-2 |
| MMRRC Submission |
040054-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.194)
|
| Stock # |
R2047 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
124737018-124746489 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 124744659 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144861
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004378]
[ENSMUST00000032218]
[ENSMUST00000112475]
[ENSMUST00000112476]
[ENSMUST00000127274]
[ENSMUST00000204896]
[ENSMUST00000149652]
[ENSMUST00000135626]
[ENSMUST00000138770]
[ENSMUST00000151214]
[ENSMUST00000156033]
|
| AlphaFold |
P17183 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004378
|
| SMART Domains |
Protein: ENSMUSP00000004378
Gene: ENSMUSG00000004267
| 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 |
noncoding transcript
Transcript: ENSMUST00000147004
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204896
|
| SMART Domains |
Protein: ENSMUSP00000144861
Gene: ENSMUSG00000004267
| 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: ENSMUST00000128701
|
| 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 |
|
| 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 benign
Transcript: ENSMUST00000151214
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132492
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146712
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139763
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147307
|
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
100% (57/57) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402N03Rik |
A |
G |
7: 130,747,836 (GRCm39) |
F52S |
probably damaging |
Het |
| Acot12 |
T |
C |
13: 91,931,122 (GRCm39) |
S457P |
probably damaging |
Het |
| Adcy5 |
G |
A |
16: 35,110,478 (GRCm39) |
V882M |
possibly damaging |
Het |
| Ahnak |
A |
G |
19: 8,991,664 (GRCm39) |
D4316G |
possibly damaging |
Het |
| Aldh1l2 |
G |
A |
10: 83,342,607 (GRCm39) |
A401V |
probably damaging |
Het |
| Apol7e |
A |
G |
15: 77,601,810 (GRCm39) |
H136R |
probably benign |
Het |
| Arl5a |
A |
G |
2: 52,302,072 (GRCm39) |
|
probably null |
Het |
| Asns |
G |
T |
6: 7,680,093 (GRCm39) |
A341E |
probably damaging |
Het |
| C7 |
A |
G |
15: 5,075,143 (GRCm39) |
L183P |
probably damaging |
Het |
| Cacng2 |
C |
T |
15: 78,003,037 (GRCm39) |
A19T |
probably damaging |
Het |
| Ccdc121rt2 |
A |
G |
5: 112,598,575 (GRCm39) |
N374S |
probably benign |
Het |
| Ccr4 |
A |
G |
9: 114,321,633 (GRCm39) |
F144S |
probably damaging |
Het |
| Ckap2 |
A |
G |
8: 22,658,763 (GRCm39) |
V660A |
probably benign |
Het |
| Cramp1 |
A |
T |
17: 25,222,189 (GRCm39) |
Y176* |
probably null |
Het |
| Dgki |
A |
G |
6: 36,890,581 (GRCm39) |
S922P |
possibly damaging |
Het |
| Drd5 |
C |
T |
5: 38,477,679 (GRCm39) |
S224L |
probably damaging |
Het |
| Ei24 |
T |
C |
9: 36,691,459 (GRCm39) |
K341E |
probably benign |
Het |
| Epb41l4a |
T |
C |
18: 33,961,259 (GRCm39) |
N425S |
probably benign |
Het |
| F13b |
T |
G |
1: 139,435,961 (GRCm39) |
C256G |
probably damaging |
Het |
| Gp6 |
A |
T |
7: 4,376,270 (GRCm39) |
|
probably benign |
Het |
| H2-Q7 |
A |
T |
17: 35,659,123 (GRCm39) |
R191S |
probably damaging |
Het |
| Ivns1abp |
T |
A |
1: 151,227,382 (GRCm39) |
S63R |
possibly damaging |
Het |
| Kcnj16 |
A |
G |
11: 110,915,946 (GRCm39) |
|
probably null |
Het |
| Lpcat4 |
T |
C |
2: 112,075,142 (GRCm39) |
|
probably null |
Het |
| Lrrc14b |
T |
C |
13: 74,511,561 (GRCm39) |
K173R |
probably benign |
Het |
| Maml3 |
C |
A |
3: 51,597,866 (GRCm39) |
R939S |
probably damaging |
Het |
| Mrgpra2b |
C |
T |
7: 47,113,908 (GRCm39) |
V249I |
probably benign |
Het |
| Mrpl46 |
T |
A |
7: 78,431,312 (GRCm39) |
Y82F |
probably damaging |
Het |
| Mthfs |
T |
A |
9: 89,097,356 (GRCm39) |
I71N |
probably damaging |
Het |
| Nectin4 |
T |
C |
1: 171,212,720 (GRCm39) |
V351A |
possibly damaging |
Het |
| Npas3 |
T |
C |
12: 54,115,612 (GRCm39) |
F827L |
probably damaging |
Het |
| Nrp1 |
G |
A |
8: 129,224,577 (GRCm39) |
|
probably benign |
Het |
| Ocln |
C |
A |
13: 100,671,632 (GRCm39) |
A242S |
probably damaging |
Het |
| Or10ad1c |
T |
A |
15: 98,084,920 (GRCm39) |
T253S |
probably damaging |
Het |
| Or13g1 |
G |
A |
7: 85,956,012 (GRCm39) |
T103I |
probably damaging |
Het |
| Or5d37 |
A |
T |
2: 87,924,237 (GRCm39) |
N14K |
probably benign |
Het |
| Pappa |
T |
C |
4: 65,149,378 (GRCm39) |
|
probably benign |
Het |
| Ptpn6 |
T |
C |
6: 124,698,752 (GRCm39) |
T480A |
probably benign |
Het |
| Pycr1 |
A |
T |
11: 120,532,512 (GRCm39) |
D168E |
possibly damaging |
Het |
| Rnf6 |
T |
C |
5: 146,148,674 (GRCm39) |
T126A |
probably damaging |
Het |
| Slc25a39 |
G |
A |
11: 102,296,657 (GRCm39) |
|
probably benign |
Het |
| Slc35f4 |
G |
T |
14: 49,541,029 (GRCm39) |
|
probably benign |
Het |
| Sppl2a |
C |
T |
2: 126,768,772 (GRCm39) |
A112T |
probably damaging |
Het |
| Sptbn1 |
A |
C |
11: 30,088,360 (GRCm39) |
|
probably benign |
Het |
| Sqle |
T |
C |
15: 59,197,907 (GRCm39) |
Y376H |
probably benign |
Het |
| Terb1 |
A |
T |
8: 105,212,094 (GRCm39) |
Y296N |
probably damaging |
Het |
| Ttbk2 |
T |
C |
2: 120,579,397 (GRCm39) |
H506R |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,737,879 (GRCm39) |
D4220G |
probably benign |
Het |
| Tub |
A |
G |
7: 108,625,939 (GRCm39) |
D230G |
probably benign |
Het |
| Ube2d3 |
T |
A |
3: 135,170,967 (GRCm39) |
I137K |
probably benign |
Het |
| Vldlr |
G |
T |
19: 27,212,238 (GRCm39) |
C84F |
probably damaging |
Het |
| Vmn1r54 |
A |
T |
6: 90,246,970 (GRCm39) |
I295F |
probably damaging |
Het |
| Vmn2r56 |
A |
G |
7: 12,466,918 (GRCm39) |
S39P |
probably damaging |
Het |
| Zfp358 |
A |
G |
8: 3,545,934 (GRCm39) |
H172R |
probably damaging |
Het |
| Zfp619 |
T |
C |
7: 39,187,062 (GRCm39) |
C1031R |
probably damaging |
Het |
| Zfp777 |
A |
G |
6: 48,021,280 (GRCm39) |
I114T |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATTCTGTCGTAGCAGCCAC -3'
(R):5'- TGTGGCAGGCAAGAGTTTAG -3'
Sequencing Primer
(F):5'- GTCGTAGCAGCCACCACCC -3'
(R):5'- TTTAGACTAGAAGGCTCAGAGAATCC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation