Incidental Mutation 'R0052:Eno4'
| ID |
15244 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eno4
|
| Ensembl Gene |
ENSMUSG00000048029 |
| Gene Name |
enolase 4 |
| Synonyms |
6430537H07Rik |
| MMRRC Submission |
038346-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R0052 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
58931857-58959853 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58956985 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 357
(D357G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144656
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047511]
[ENSMUST00000054280]
[ENSMUST00000163821]
[ENSMUST00000200910]
[ENSMUST00000202382]
|
| AlphaFold |
Q8C042 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047511
|
| SMART Domains |
Protein: ENSMUSP00000041378
Gene: ENSMUSG00000041362
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
7 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
120 |
132 |
N/A |
INTRINSIC |
|
coiled coil region
|
137 |
233 |
N/A |
INTRINSIC |
|
coiled coil region
|
259 |
353 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054280
AA Change: D533G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000062584
Gene: ENSMUSG00000048029
AA Change: D533G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:Enolase_C
|
29 |
55 |
6e-8 |
BLAST |
|
Enolase_N
|
69 |
264 |
1.06e-20 |
SMART |
|
Enolase_C
|
276 |
585 |
7.85e-42 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163821
|
| SMART Domains |
Protein: ENSMUSP00000126227
Gene: ENSMUSG00000041362
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
59 |
77 |
1.42e-6 |
PROSPERO |
|
low complexity region
|
120 |
132 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
207 |
225 |
1.42e-6 |
PROSPERO |
|
coiled coil region
|
259 |
353 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200910
AA Change: D532G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144272
Gene: ENSMUSG00000048029
AA Change: D532G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:Enolase_C
|
29 |
55 |
6e-8 |
BLAST |
|
Enolase_N
|
68 |
263 |
1.06e-20 |
SMART |
|
Enolase_C
|
275 |
584 |
7.85e-42 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201123
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202382
AA Change: D357G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144656
Gene: ENSMUSG00000048029
AA Change: D357G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:Enolase_N
|
1 |
88 |
1e-22 |
BLAST |
|
Enolase_C
|
100 |
409 |
2.1e-45 |
SMART |
|
| Meta Mutation Damage Score |
0.2387 |
| Coding Region Coverage |
- 1x: 85.5%
- 3x: 78.2%
- 10x: 46.7%
- 20x: 12.5%
|
| Validation Efficiency |
90% (62/69) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trap allele exhibit male infertility associated with abnormal sperm morphology, number and motility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apba1 |
T |
C |
19: 23,893,315 (GRCm39) |
S438P |
possibly damaging |
Het |
| Atosa |
A |
G |
9: 74,926,265 (GRCm39) |
|
probably benign |
Het |
| Atp2a1 |
A |
G |
7: 126,057,069 (GRCm39) |
|
probably benign |
Het |
| Bicd2 |
T |
A |
13: 49,528,790 (GRCm39) |
L184Q |
probably damaging |
Het |
| Bub1 |
G |
A |
2: 127,650,959 (GRCm39) |
T618I |
probably benign |
Het |
| Dsp |
A |
G |
13: 38,381,340 (GRCm39) |
D2096G |
possibly damaging |
Het |
| Fcrl2 |
A |
T |
3: 87,164,085 (GRCm39) |
I348N |
possibly damaging |
Het |
| Fgl2 |
A |
T |
5: 21,580,347 (GRCm39) |
S230C |
probably damaging |
Het |
| Ginm1 |
T |
A |
10: 7,655,070 (GRCm39) |
E57D |
possibly damaging |
Het |
| Itga9 |
T |
A |
9: 118,465,617 (GRCm39) |
I157N |
probably damaging |
Het |
| Kif21a |
T |
C |
15: 90,855,060 (GRCm39) |
E700G |
probably damaging |
Het |
| Mmd |
C |
T |
11: 90,150,824 (GRCm39) |
|
probably benign |
Het |
| Morn3 |
T |
C |
5: 123,184,726 (GRCm39) |
Y38C |
probably damaging |
Het |
| Prex2 |
T |
A |
1: 11,230,380 (GRCm39) |
L802Q |
probably damaging |
Het |
| Psd3 |
A |
G |
8: 68,335,631 (GRCm39) |
|
probably null |
Het |
| Ralgds |
T |
A |
2: 28,434,400 (GRCm39) |
|
probably null |
Het |
| Rmdn2 |
A |
G |
17: 79,957,760 (GRCm39) |
E16G |
probably damaging |
Het |
| Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
| Slc4a4 |
A |
C |
5: 89,304,195 (GRCm39) |
H502P |
possibly damaging |
Het |
| Slco3a1 |
A |
T |
7: 74,154,074 (GRCm39) |
I166N |
probably benign |
Het |
| Snx5 |
A |
T |
2: 144,101,112 (GRCm39) |
|
probably null |
Het |
| Srgap1 |
T |
C |
10: 121,636,732 (GRCm39) |
D741G |
possibly damaging |
Het |
| St8sia2 |
G |
T |
7: 73,593,038 (GRCm39) |
Y339* |
probably null |
Het |
| Tdo2 |
T |
A |
3: 81,874,332 (GRCm39) |
N210I |
probably benign |
Het |
| Thada |
A |
T |
17: 84,762,586 (GRCm39) |
N104K |
probably damaging |
Het |
| Timm8b |
A |
T |
9: 50,516,330 (GRCm39) |
D61V |
possibly damaging |
Het |
| Trbv12-1 |
T |
C |
6: 41,090,850 (GRCm39) |
F74S |
possibly damaging |
Het |
| Tshz1 |
G |
A |
18: 84,033,070 (GRCm39) |
T446I |
possibly damaging |
Het |
| Ubap2l |
T |
C |
3: 89,946,235 (GRCm39) |
N123S |
possibly damaging |
Het |
| Usp12 |
A |
G |
5: 146,675,914 (GRCm39) |
V336A |
possibly damaging |
Het |
| Xrn2 |
T |
A |
2: 146,882,885 (GRCm39) |
|
probably benign |
Het |
| Zfp14 |
G |
T |
7: 29,737,753 (GRCm39) |
Q411K |
probably damaging |
Het |
|
| Other mutations in Eno4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01672:Eno4
|
APN |
19 |
58,931,977 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02486:Eno4
|
APN |
19 |
58,934,097 (GRCm39) |
splice site |
probably null |
|
|
IGL03087:Eno4
|
APN |
19 |
58,951,248 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL03207:Eno4
|
APN |
19 |
58,941,637 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0048:Eno4
|
UTSW |
19 |
58,952,970 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0052:Eno4
|
UTSW |
19 |
58,956,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0362:Eno4
|
UTSW |
19 |
58,932,056 (GRCm39) |
splice site |
probably benign |
|
|
R2376:Eno4
|
UTSW |
19 |
58,941,658 (GRCm39) |
missense |
probably benign |
|
|
R4387:Eno4
|
UTSW |
19 |
58,941,640 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4678:Eno4
|
UTSW |
19 |
58,935,181 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4696:Eno4
|
UTSW |
19 |
58,934,068 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4896:Eno4
|
UTSW |
19 |
58,952,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4932:Eno4
|
UTSW |
19 |
58,952,889 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5050:Eno4
|
UTSW |
19 |
58,943,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5092:Eno4
|
UTSW |
19 |
58,934,023 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5104:Eno4
|
UTSW |
19 |
58,933,973 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5300:Eno4
|
UTSW |
19 |
58,943,982 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5450:Eno4
|
UTSW |
19 |
58,948,679 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5689:Eno4
|
UTSW |
19 |
58,959,088 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5698:Eno4
|
UTSW |
19 |
58,956,904 (GRCm39) |
splice site |
probably null |
|
|
R5874:Eno4
|
UTSW |
19 |
58,935,238 (GRCm39) |
missense |
probably benign |
|
|
R6027:Eno4
|
UTSW |
19 |
58,935,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6316:Eno4
|
UTSW |
19 |
58,948,723 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6494:Eno4
|
UTSW |
19 |
58,951,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6706:Eno4
|
UTSW |
19 |
58,959,112 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7779:Eno4
|
UTSW |
19 |
58,956,975 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8169:Eno4
|
UTSW |
19 |
58,935,084 (GRCm39) |
missense |
probably benign |
|
|
R8879:Eno4
|
UTSW |
19 |
58,959,154 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9090:Eno4
|
UTSW |
19 |
58,951,260 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9093:Eno4
|
UTSW |
19 |
58,941,600 (GRCm39) |
nonsense |
probably null |
|
|
R9271:Eno4
|
UTSW |
19 |
58,951,260 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2012-12-17 |
Incidental Mutation