Incidental Mutation 'R6706:Eno4'
| ID |
528963 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eno4
|
| Ensembl Gene |
ENSMUSG00000048029 |
| Gene Name |
enolase 4 |
| Synonyms |
6430537H07Rik |
| MMRRC Submission |
044824-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R6706 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
58931857-58959853 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 58959112 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 411
(E411D)
|
| 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 benign
Transcript: ENSMUST00000054280
AA Change: E599D
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000062584
Gene: ENSMUSG00000048029
AA Change: E599D
| 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 benign
Transcript: ENSMUST00000200910
AA Change: E598D
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000144272
Gene: ENSMUSG00000048029
AA Change: E598D
| 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: E411D
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000144656
Gene: ENSMUSG00000048029
AA Change: E411D
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
97% (36/37) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
T |
A |
8: 44,104,479 (GRCm39) |
K389* |
probably null |
Het |
| Adam6a |
T |
G |
12: 113,508,886 (GRCm39) |
F420V |
probably benign |
Het |
| Alpl |
T |
C |
4: 137,473,740 (GRCm39) |
T321A |
probably benign |
Het |
| Asxl3 |
A |
G |
18: 22,586,666 (GRCm39) |
D152G |
probably damaging |
Het |
| B4galt4 |
A |
G |
16: 38,578,173 (GRCm39) |
T207A |
probably benign |
Het |
| Bsph2 |
A |
T |
7: 13,304,972 (GRCm39) |
M1K |
probably null |
Het |
| Cacna2d1 |
T |
A |
5: 16,531,338 (GRCm39) |
L535Q |
probably damaging |
Het |
| Cacna2d3 |
T |
C |
14: 28,846,642 (GRCm39) |
|
probably null |
Het |
| Chrdl2 |
T |
C |
7: 99,659,328 (GRCm39) |
|
probably null |
Het |
| Ctdnep1 |
A |
G |
11: 69,875,138 (GRCm39) |
N54S |
probably benign |
Het |
| Dclre1a |
A |
T |
19: 56,533,501 (GRCm39) |
D364E |
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,735,615 (GRCm39) |
I1328V |
possibly damaging |
Het |
| Fbxl14 |
A |
G |
6: 119,457,716 (GRCm39) |
Y299C |
probably benign |
Het |
| Fhdc1 |
T |
C |
3: 84,353,729 (GRCm39) |
S499G |
probably damaging |
Het |
| Hectd4 |
C |
T |
5: 121,458,147 (GRCm39) |
T771I |
possibly damaging |
Het |
| Kansl3 |
A |
G |
1: 36,383,995 (GRCm39) |
|
probably null |
Het |
| Letm2 |
G |
A |
8: 26,083,977 (GRCm39) |
H85Y |
probably benign |
Het |
| Map3k6 |
A |
T |
4: 132,978,250 (GRCm39) |
K1031* |
probably null |
Het |
| Mfsd4b5 |
T |
A |
10: 39,862,413 (GRCm39) |
T37S |
probably benign |
Het |
| Mgam |
T |
A |
6: 40,721,720 (GRCm39) |
V346D |
probably benign |
Het |
| Myrip |
C |
T |
9: 120,217,359 (GRCm39) |
H98Y |
possibly damaging |
Het |
| Nos2 |
A |
G |
11: 78,835,549 (GRCm39) |
N443D |
possibly damaging |
Het |
| Notch2 |
A |
T |
3: 98,045,746 (GRCm39) |
D1637V |
possibly damaging |
Het |
| Or4c35 |
T |
A |
2: 89,808,929 (GRCm39) |
V269E |
probably damaging |
Het |
| Or6z6 |
G |
A |
7: 6,491,049 (GRCm39) |
R275C |
probably damaging |
Het |
| Pank1 |
C |
T |
19: 34,789,786 (GRCm39) |
G530D |
probably damaging |
Het |
| Pde4dip |
G |
T |
3: 97,648,709 (GRCm39) |
R1036S |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Plin2 |
T |
C |
4: 86,578,357 (GRCm39) |
T247A |
probably benign |
Het |
| Rp1 |
T |
A |
1: 4,212,887 (GRCm39) |
I1067F |
unknown |
Het |
| Serpinb9d |
T |
A |
13: 33,380,541 (GRCm39) |
N142K |
probably benign |
Het |
| Slc12a5 |
A |
G |
2: 164,830,509 (GRCm39) |
Y639C |
probably damaging |
Het |
| Tfap2c |
A |
G |
2: 172,399,276 (GRCm39) |
M508V |
probably benign |
Het |
| Tmprss11d |
T |
C |
5: 86,478,962 (GRCm39) |
N147S |
probably benign |
Het |
| Togaram1 |
T |
A |
12: 65,049,383 (GRCm39) |
N1273K |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,709,687 (GRCm39) |
R1581* |
probably null |
Het |
| Uggt2 |
T |
A |
14: 119,308,293 (GRCm39) |
I363F |
probably damaging |
Het |
| Vmn2r63 |
T |
A |
7: 42,578,001 (GRCm39) |
D179V |
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 |
|
|
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 |
|
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'- GACTGTTCTGAGAGCTCTGG -3'
(R):5'- CGAAAGCATGCACACGTTGG -3'
Sequencing Primer
(F):5'- CTGAGAGCTCTGGATCCTTTTG -3'
(R):5'- ACGTTGGTGATTATACTCATTTACGG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation