Incidental Mutation 'R0662:Eno2'
ID |
61886 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eno2
|
Ensembl Gene |
ENSMUSG00000004267 |
Gene Name |
enolase 2, gamma neuronal |
Synonyms |
D6Ertd375e, NSE, Eno-2 |
MMRRC Submission |
038847-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.191)
|
Stock # |
R0662 (G1)
|
Quality Score |
113 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
124737018-124746489 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 124740774 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 218
(F218I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144861
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004378]
[ENSMUST00000112476]
[ENSMUST00000127274]
[ENSMUST00000135626]
[ENSMUST00000204896]
[ENSMUST00000138770]
[ENSMUST00000156033]
[ENSMUST00000151214]
[ENSMUST00000149652]
|
AlphaFold |
P17183 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000004378
AA Change: F261I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000004378 Gene: ENSMUSG00000004267 AA Change: F261I
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: F142I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000108095 Gene: ENSMUSG00000004267 AA Change: F142I
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: F218I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000144861 Gene: ENSMUSG00000004267 AA Change: F218I
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: ENSMUST00000138770
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147004
|
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 |
probably benign
Transcript: ENSMUST00000151214
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139763
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146712
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147307
|
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 |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.6%
- 20x: 91.5%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
T |
C |
19: 31,898,338 (GRCm39) |
S241P |
probably benign |
Het |
Ankrd53 |
G |
T |
6: 83,740,625 (GRCm39) |
V83L |
probably damaging |
Het |
Armcx2 |
G |
A |
X: 133,706,385 (GRCm39) |
T416I |
possibly damaging |
Het |
C4b |
G |
A |
17: 34,949,862 (GRCm39) |
R1441C |
probably damaging |
Het |
Cacng3 |
T |
C |
7: 122,367,582 (GRCm39) |
I154T |
probably damaging |
Het |
Cand2 |
A |
G |
6: 115,764,171 (GRCm39) |
D315G |
probably benign |
Het |
Celsr2 |
A |
T |
3: 108,305,836 (GRCm39) |
S2089R |
probably damaging |
Het |
Chd9 |
A |
C |
8: 91,704,304 (GRCm39) |
K247Q |
probably damaging |
Het |
Chi3l1 |
A |
C |
1: 134,116,311 (GRCm39) |
S263R |
probably damaging |
Het |
Clec12b |
A |
C |
6: 129,353,200 (GRCm39) |
C262W |
probably damaging |
Het |
Cpsf7 |
T |
C |
19: 10,503,372 (GRCm39) |
M1T |
probably null |
Het |
Cul3 |
T |
C |
1: 80,249,282 (GRCm39) |
D597G |
probably damaging |
Het |
Dcaf11 |
T |
C |
14: 55,802,964 (GRCm39) |
V251A |
possibly damaging |
Het |
Dennd2b |
G |
T |
7: 109,156,633 (GRCm39) |
P39Q |
probably damaging |
Het |
Frmd6 |
A |
T |
12: 70,946,218 (GRCm39) |
R549* |
probably null |
Het |
Fyb2 |
G |
A |
4: 104,852,895 (GRCm39) |
S461N |
possibly damaging |
Het |
Gm5709 |
A |
T |
3: 59,514,164 (GRCm39) |
|
noncoding transcript |
Het |
Hormad1 |
T |
C |
3: 95,482,910 (GRCm39) |
I132T |
probably benign |
Het |
Itga7 |
G |
T |
10: 128,789,400 (GRCm39) |
R981L |
probably damaging |
Het |
Itgbl1 |
T |
A |
14: 124,065,306 (GRCm39) |
N153K |
probably damaging |
Het |
Itih1 |
T |
C |
14: 30,655,317 (GRCm39) |
E626G |
possibly damaging |
Het |
Kat6b |
AGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGA |
14: 21,712,417 (GRCm39) |
|
probably benign |
Het |
Kcna2 |
A |
T |
3: 107,012,717 (GRCm39) |
T433S |
probably benign |
Het |
Map4k5 |
A |
G |
12: 69,859,927 (GRCm39) |
V673A |
probably damaging |
Het |
Mmp27 |
T |
A |
9: 7,577,651 (GRCm39) |
V281E |
probably benign |
Het |
Nr2c1 |
A |
T |
10: 94,026,600 (GRCm39) |
I492F |
probably damaging |
Het |
Or14c39 |
A |
G |
7: 86,343,838 (GRCm39) |
Y58C |
possibly damaging |
Het |
Or2ag19 |
A |
T |
7: 106,443,856 (GRCm39) |
I13F |
probably benign |
Het |
Or2r3 |
C |
T |
6: 42,448,708 (GRCm39) |
V135M |
possibly damaging |
Het |
Or2y3 |
A |
G |
17: 38,393,824 (GRCm39) |
I15T |
probably benign |
Het |
Or7d10 |
G |
C |
9: 19,831,796 (GRCm39) |
C97S |
probably damaging |
Het |
Or7e170 |
T |
C |
9: 19,795,248 (GRCm39) |
M118V |
probably benign |
Het |
Or8b47 |
T |
A |
9: 38,435,322 (GRCm39) |
M98K |
probably damaging |
Het |
Pank3 |
T |
C |
11: 35,669,477 (GRCm39) |
M237T |
probably damaging |
Het |
Plekhh1 |
A |
G |
12: 79,125,767 (GRCm39) |
T1268A |
probably benign |
Het |
Ptchd4 |
A |
G |
17: 42,813,467 (GRCm39) |
Y456C |
probably damaging |
Het |
Rhcg |
C |
T |
7: 79,249,477 (GRCm39) |
V310M |
probably damaging |
Het |
Ryr1 |
A |
T |
7: 28,799,614 (GRCm39) |
D906E |
probably damaging |
Het |
Sez6l |
A |
T |
5: 112,621,288 (GRCm39) |
L262Q |
probably damaging |
Het |
Shprh |
G |
A |
10: 11,062,591 (GRCm39) |
V1233I |
probably damaging |
Het |
Slc3a1 |
A |
G |
17: 85,344,635 (GRCm39) |
E267G |
possibly damaging |
Het |
Slc5a5 |
T |
A |
8: 71,336,519 (GRCm39) |
T616S |
probably benign |
Het |
Syne3 |
T |
G |
12: 104,927,769 (GRCm39) |
E318A |
probably benign |
Het |
Tecpr2 |
A |
G |
12: 110,862,662 (GRCm39) |
T25A |
probably benign |
Het |
Ubxn1 |
T |
A |
19: 8,852,561 (GRCm39) |
|
probably null |
Het |
Unc5b |
C |
A |
10: 60,608,362 (GRCm39) |
R616L |
possibly damaging |
Het |
Ush2a |
A |
G |
1: 188,083,290 (GRCm39) |
T278A |
probably benign |
Het |
Utp14b |
A |
G |
1: 78,642,716 (GRCm39) |
T205A |
probably damaging |
Het |
Vmn1r219 |
T |
C |
13: 23,347,623 (GRCm39) |
S271P |
possibly damaging |
Het |
Vmn2r76 |
C |
T |
7: 85,879,578 (GRCm39) |
V241M |
probably benign |
Het |
Zbtb24 |
G |
A |
10: 41,338,275 (GRCm39) |
G429D |
probably damaging |
Het |
Zdhhc2 |
T |
C |
8: 40,900,139 (GRCm39) |
S68P |
probably damaging |
Het |
Zfp719 |
G |
A |
7: 43,233,678 (GRCm39) |
M32I |
possibly damaging |
Het |
Zfp975 |
T |
C |
7: 42,311,950 (GRCm39) |
N221S |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAAGTTCACCTTTGCCTAGCTCCGT -3'
(R):5'- TAGATAGCCTCTCTCCACAGACCCT -3'
Sequencing Primer
(F):5'- GCCTAGCTCCGTCCTTTC -3'
(R):5'- TCTCTCCACAGACCCTAGTCAC -3'
|
Posted On |
2013-07-30 |