Incidental Mutation 'R2376:Eno4'
| ID |
248297 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eno4
|
| Ensembl Gene |
ENSMUSG00000048029 |
| Gene Name |
enolase 4 |
| Synonyms |
6430537H07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R2376 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
58931857-58959853 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58941658 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 17
(V17A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144656
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054280]
[ENSMUST00000200910]
[ENSMUST00000202382]
|
| AlphaFold |
Q8C042 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054280
AA Change: V193A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000062584
Gene: ENSMUSG00000048029
AA Change: V193A
| 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: ENSMUST00000200910
AA Change: V192A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000144272
Gene: ENSMUSG00000048029
AA Change: V192A
| 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 benign
Transcript: ENSMUST00000202382
AA Change: V17A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000144656
Gene: ENSMUSG00000048029
AA Change: V17A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:Enolase_N
|
1 |
88 |
1e-22 |
BLAST |
|
Enolase_C
|
100 |
409 |
2.1e-45 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
|
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
A |
T |
6: 92,889,812 (GRCm39) |
V254E |
probably benign |
Het |
| Anapc16 |
T |
C |
10: 59,824,579 (GRCm39) |
E119G |
possibly damaging |
Het |
| Ankrd13d |
T |
A |
19: 4,322,623 (GRCm39) |
I350F |
possibly damaging |
Het |
| Asb6 |
A |
G |
2: 30,714,414 (GRCm39) |
M232T |
probably benign |
Het |
| Cacna1g |
A |
G |
11: 94,356,734 (GRCm39) |
V134A |
probably damaging |
Het |
| Catsperz |
A |
T |
19: 6,902,266 (GRCm39) |
L76H |
probably damaging |
Het |
| Hrob |
A |
G |
11: 102,141,542 (GRCm39) |
D14G |
probably benign |
Het |
| Ltn1 |
A |
G |
16: 87,217,695 (GRCm39) |
|
probably null |
Het |
| Myh9 |
G |
T |
15: 77,667,617 (GRCm39) |
D605E |
probably benign |
Het |
| Obscn |
C |
T |
11: 58,959,950 (GRCm39) |
A3515T |
probably damaging |
Het |
| Pck1 |
A |
G |
2: 172,998,909 (GRCm39) |
K389R |
probably benign |
Het |
| Pde10a |
A |
G |
17: 9,149,369 (GRCm39) |
Y407C |
probably damaging |
Het |
| Plce1 |
G |
A |
19: 38,766,430 (GRCm39) |
V2138I |
probably benign |
Het |
| Pou4f2 |
T |
G |
8: 79,162,814 (GRCm39) |
S74R |
unknown |
Het |
| Ptpn21 |
A |
T |
12: 98,654,573 (GRCm39) |
M798K |
possibly damaging |
Het |
| Rhag |
G |
T |
17: 41,122,254 (GRCm39) |
|
probably null |
Het |
| Utp6 |
C |
G |
11: 79,846,439 (GRCm39) |
E181Q |
probably damaging |
Het |
| Vcan |
G |
T |
13: 89,851,529 (GRCm39) |
Q1144K |
possibly damaging |
Het |
| Vmn1r88 |
T |
A |
7: 12,911,785 (GRCm39) |
V47D |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTTAGAGAACATGGCTTTCC -3'
(R):5'- GGATAAAACCTTGTCACCCAGC -3'
Sequencing Primer
(F):5'- CTTGAACAAGAAAAATGGCTTCGAC -3'
(R):5'- TTGTCACCCAGCACAGCAG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation