Incidental Mutation 'R5308:Eno2'
| ID |
434475 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eno2
|
| Ensembl Gene |
ENSMUSG00000004267 |
| Gene Name |
enolase 2, gamma neuronal |
| Synonyms |
D6Ertd375e, NSE, Eno-2 |
| MMRRC Submission |
042891-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.191)
|
| Stock # |
R5308 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
124737018-124746489 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 124744056 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 84
(V84L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119112
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004378]
[ENSMUST00000032218]
[ENSMUST00000112475]
[ENSMUST00000112476]
[ENSMUST00000127274]
[ENSMUST00000149652]
[ENSMUST00000135626]
[ENSMUST00000138770]
[ENSMUST00000151214]
[ENSMUST00000156033]
[ENSMUST00000204896]
|
| AlphaFold |
P17183 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004378
AA Change: V84L
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000004378
Gene: ENSMUSG00000004267
AA Change: V84L
| 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 |
unknown
Transcript: ENSMUST00000112476
AA Change: V84L
|
| SMART Domains |
Protein: ENSMUSP00000108095
Gene: ENSMUSG00000004267
AA Change: V84L
| 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: V84L
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000119112
Gene: ENSMUSG00000004267
AA Change: V84L
| 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 damaging
Transcript: ENSMUST00000135626
AA Change: V84L
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000114500
Gene: ENSMUSG00000004267
AA Change: V84L
| 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 |
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: 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: ENSMUST00000139763
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147307
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146712
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128701
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132492
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 97.7%
- 10x: 95.4%
- 20x: 91.2%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
C |
G |
3: 124,199,999 (GRCm39) |
G531A |
probably damaging |
Het |
| 4921504E06Rik |
T |
C |
2: 19,528,892 (GRCm39) |
D163G |
probably damaging |
Het |
| Abcd4 |
C |
T |
12: 84,650,067 (GRCm39) |
|
probably null |
Het |
| Alg9 |
T |
C |
9: 50,734,011 (GRCm39) |
S570P |
possibly damaging |
Het |
| Angptl3 |
C |
A |
4: 98,922,723 (GRCm39) |
H255N |
probably benign |
Het |
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Cdc37 |
A |
T |
9: 21,052,060 (GRCm39) |
D326E |
probably benign |
Het |
| Cdk13 |
T |
C |
13: 17,946,898 (GRCm39) |
K6R |
probably damaging |
Het |
| Ces1b |
T |
C |
8: 93,793,645 (GRCm39) |
K315E |
probably benign |
Het |
| Cfap61 |
G |
A |
2: 145,951,908 (GRCm39) |
G190S |
probably damaging |
Het |
| Cimap3 |
T |
C |
3: 105,908,419 (GRCm39) |
T107A |
probably benign |
Het |
| Ckap4 |
T |
C |
10: 84,364,238 (GRCm39) |
E275G |
probably benign |
Het |
| Cplane1 |
G |
A |
15: 8,290,174 (GRCm39) |
|
probably null |
Het |
| Csf3r |
A |
G |
4: 125,929,137 (GRCm39) |
D349G |
probably benign |
Het |
| Cyp2d37-ps |
T |
C |
15: 82,574,012 (GRCm39) |
|
noncoding transcript |
Het |
| Dmbt1 |
T |
A |
7: 130,642,751 (GRCm39) |
C190S |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 118,049,415 (GRCm39) |
F1670L |
possibly damaging |
Het |
| Dnah5 |
A |
T |
15: 28,229,797 (GRCm39) |
I144F |
possibly damaging |
Het |
| Ercc4 |
G |
T |
16: 12,948,028 (GRCm39) |
R325L |
probably damaging |
Het |
| Fcgr2b |
T |
G |
1: 170,793,279 (GRCm39) |
Q250P |
probably benign |
Het |
| Garin5a |
T |
C |
7: 44,149,606 (GRCm39) |
V109A |
probably damaging |
Het |
| Garre1 |
T |
A |
7: 33,945,180 (GRCm39) |
K355* |
probably null |
Het |
| Gcfc2 |
T |
C |
6: 81,920,524 (GRCm39) |
|
probably null |
Het |
| Glb1l2 |
C |
T |
9: 26,676,055 (GRCm39) |
G509D |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Grn |
A |
G |
11: 102,327,018 (GRCm39) |
N160D |
possibly damaging |
Het |
| Hexd |
T |
A |
11: 121,113,095 (GRCm39) |
V510D |
probably damaging |
Het |
| Igfbp1 |
G |
A |
11: 7,149,919 (GRCm39) |
|
probably null |
Het |
| Itga11 |
T |
A |
9: 62,663,051 (GRCm39) |
M589K |
probably benign |
Het |
| Itpr1 |
A |
T |
6: 108,333,472 (GRCm39) |
S51C |
probably damaging |
Het |
| Klra3 |
T |
C |
6: 130,311,270 (GRCm39) |
|
probably null |
Het |
| Mad2l1 |
T |
C |
6: 66,514,675 (GRCm39) |
|
probably null |
Het |
| Matn3 |
CGGGGCTCGGGGGC |
CGGGGC |
12: 9,002,308 (GRCm39) |
|
probably null |
Het |
| Myo9a |
T |
A |
9: 59,771,244 (GRCm39) |
Y939N |
probably damaging |
Het |
| Nxpe3 |
C |
T |
16: 55,686,834 (GRCm39) |
S58N |
probably benign |
Het |
| Or1j16 |
T |
A |
2: 36,530,706 (GRCm39) |
Y218* |
probably null |
Het |
| Or3a1c |
T |
A |
11: 74,046,397 (GRCm39) |
M139K |
probably damaging |
Het |
| Or4c103 |
T |
C |
2: 88,513,749 (GRCm39) |
E109G |
probably benign |
Het |
| Or4k45 |
C |
T |
2: 111,394,899 (GRCm39) |
A297T |
probably damaging |
Het |
| Paics |
T |
C |
5: 77,104,479 (GRCm39) |
S35P |
probably damaging |
Het |
| Pcnt |
A |
C |
10: 76,192,159 (GRCm39) |
Y2717* |
probably null |
Het |
| Plekho2 |
T |
A |
9: 65,465,957 (GRCm39) |
N144Y |
probably damaging |
Het |
| Plscr5 |
T |
C |
9: 92,080,565 (GRCm39) |
F17S |
possibly damaging |
Het |
| Prrc2a |
C |
T |
17: 35,380,023 (GRCm39) |
R192H |
unknown |
Het |
| Rbm27 |
T |
A |
18: 42,460,275 (GRCm39) |
M735K |
probably damaging |
Het |
| Rfc1 |
T |
A |
5: 65,436,804 (GRCm39) |
K625N |
probably damaging |
Het |
| Ric8b |
T |
A |
10: 84,783,611 (GRCm39) |
F156L |
probably benign |
Het |
| Romo1 |
C |
A |
2: 155,986,473 (GRCm39) |
A32E |
possibly damaging |
Het |
| Rpl26 |
T |
A |
11: 68,795,284 (GRCm39) |
Y135N |
probably damaging |
Het |
| Sacs |
T |
C |
14: 61,429,849 (GRCm39) |
V636A |
probably benign |
Het |
| Scyl2 |
A |
T |
10: 89,477,869 (GRCm39) |
I710N |
probably benign |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc4a1 |
T |
A |
11: 102,249,903 (GRCm39) |
I154F |
probably damaging |
Het |
| Snx11 |
A |
G |
11: 96,661,535 (GRCm39) |
S157P |
probably damaging |
Het |
| Snx18 |
G |
A |
13: 113,753,383 (GRCm39) |
Q517* |
probably null |
Het |
| Stard4 |
G |
T |
18: 33,336,678 (GRCm39) |
N212K |
probably damaging |
Het |
| Strn3 |
A |
G |
12: 51,676,168 (GRCm39) |
Y454H |
probably damaging |
Het |
| Stx17 |
A |
T |
4: 48,182,851 (GRCm39) |
|
probably benign |
Het |
| Tas2r121 |
G |
A |
6: 132,677,480 (GRCm39) |
T164I |
possibly damaging |
Het |
| Tbc1d8 |
T |
C |
1: 39,428,490 (GRCm39) |
Y485C |
probably damaging |
Het |
| Tmem45b |
T |
C |
9: 31,340,380 (GRCm39) |
M8V |
probably damaging |
Het |
| Usp28 |
T |
C |
9: 48,948,501 (GRCm39) |
F844L |
probably damaging |
Het |
| Usp32 |
T |
A |
11: 84,908,544 (GRCm39) |
N1054I |
probably benign |
Het |
| Xpa |
T |
A |
4: 46,185,659 (GRCm39) |
E106D |
probably benign |
Het |
| Zfp85 |
C |
T |
13: 67,896,974 (GRCm39) |
C366Y |
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 |
|
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'- ACTCCTGTCTTCAAGCTTTGAG -3'
(R):5'- TTTTACACTGCAAGGGTGGG -3'
Sequencing Primer
(F):5'- CTGTCTTCAAGCTTTGAGAAGTTC -3'
(R):5'- GTGGGAAAAATACTGCTTACTGCCC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation