Incidental Mutation 'R6494:Eno4'
ID |
522989 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eno4
|
Ensembl Gene |
ENSMUSG00000048029 |
Gene Name |
enolase 4 |
Synonyms |
6430537H07Rik |
MMRRC Submission |
044626-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R6494 (G1)
|
Quality Score |
211.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
58931857-58959853 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 58951226 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 237
(Y237N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144656
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054280]
[ENSMUST00000200910]
[ENSMUST00000202382]
|
AlphaFold |
Q8C042 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000054280
AA Change: Y413N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000062584 Gene: ENSMUSG00000048029 AA Change: Y413N
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 damaging
Transcript: ENSMUST00000200910
AA Change: Y412N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000144272 Gene: ENSMUSG00000048029 AA Change: Y412N
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 |
unknown
Transcript: ENSMUST00000201123
AA Change: Y129N
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000202382
AA Change: Y237N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000144656 Gene: ENSMUSG00000048029 AA Change: Y237N
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 |
0.4087 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 97.8%
- 20x: 92.4%
|
Validation Efficiency |
98% (44/45) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akt2 |
T |
C |
7: 27,315,774 (GRCm39) |
L52P |
possibly damaging |
Het |
Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
Chic2 |
T |
C |
5: 75,204,943 (GRCm39) |
E6G |
probably benign |
Het |
Clca4a |
T |
A |
3: 144,663,059 (GRCm39) |
T597S |
probably benign |
Het |
Col5a2 |
C |
A |
1: 45,417,487 (GRCm39) |
D1363Y |
probably damaging |
Het |
Csmd1 |
C |
T |
8: 16,261,709 (GRCm39) |
|
probably null |
Het |
Dnah7b |
A |
T |
1: 46,138,591 (GRCm39) |
Y211F |
probably damaging |
Het |
Efcab3 |
A |
T |
11: 104,990,845 (GRCm39) |
Y5460F |
possibly damaging |
Het |
Efcab6 |
T |
A |
15: 83,928,523 (GRCm39) |
|
probably null |
Het |
Fer1l4 |
T |
A |
2: 155,887,390 (GRCm39) |
D602V |
probably benign |
Het |
Fgfr2 |
T |
C |
7: 129,800,280 (GRCm39) |
N337S |
probably damaging |
Het |
Fras1 |
C |
T |
5: 96,907,423 (GRCm39) |
R3203C |
possibly damaging |
Het |
Gbp2 |
T |
A |
3: 142,337,769 (GRCm39) |
V295E |
probably damaging |
Het |
Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
Hyal4 |
A |
G |
6: 24,765,745 (GRCm39) |
I366M |
possibly damaging |
Het |
Itsn2 |
C |
T |
12: 4,684,792 (GRCm39) |
R448* |
probably null |
Het |
Klhl35 |
G |
T |
7: 99,122,106 (GRCm39) |
W69L |
probably damaging |
Het |
Kpnb1 |
T |
C |
11: 97,072,474 (GRCm39) |
I154V |
probably benign |
Het |
Lax1 |
T |
A |
1: 133,608,186 (GRCm39) |
Y185F |
probably damaging |
Het |
Mmp12 |
C |
T |
9: 7,353,479 (GRCm39) |
P208L |
probably damaging |
Het |
Ndufb8 |
C |
T |
19: 44,543,744 (GRCm39) |
V33M |
probably null |
Het |
Nptn |
T |
G |
9: 58,531,035 (GRCm39) |
C169G |
probably damaging |
Het |
Nuggc |
A |
T |
14: 65,885,671 (GRCm39) |
E766V |
probably damaging |
Het |
Or10ag55-ps1 |
A |
T |
2: 87,139,520 (GRCm39) |
N149I |
possibly damaging |
Het |
Or12e14 |
A |
T |
2: 87,187,976 (GRCm39) |
K63* |
probably null |
Het |
Pcdhga6 |
T |
A |
18: 37,841,594 (GRCm39) |
I438N |
probably damaging |
Het |
Pkn2 |
T |
C |
3: 142,509,429 (GRCm39) |
N721S |
possibly damaging |
Het |
Pole |
T |
C |
5: 110,472,588 (GRCm39) |
W1590R |
possibly damaging |
Het |
Prph2 |
A |
G |
17: 47,222,007 (GRCm39) |
T129A |
probably benign |
Het |
Ptpro |
A |
T |
6: 137,359,640 (GRCm39) |
K403N |
probably benign |
Het |
Rbck1 |
T |
C |
2: 152,172,886 (GRCm39) |
D54G |
possibly damaging |
Het |
Serpinb7 |
T |
A |
1: 107,363,076 (GRCm39) |
L80* |
probably null |
Het |
Setdb2 |
T |
A |
14: 59,639,863 (GRCm39) |
Y676F |
probably benign |
Het |
Skint1 |
G |
T |
4: 111,867,909 (GRCm39) |
C12F |
probably benign |
Het |
Slc22a26 |
T |
A |
19: 7,779,651 (GRCm39) |
D55V |
probably damaging |
Het |
Slc9a8 |
G |
A |
2: 167,266,211 (GRCm39) |
V63I |
probably damaging |
Het |
Sox2 |
T |
A |
3: 34,705,246 (GRCm39) |
S228T |
probably benign |
Het |
Spata31g1 |
A |
G |
4: 42,971,924 (GRCm39) |
N419S |
possibly damaging |
Het |
Spg11 |
A |
G |
2: 121,943,706 (GRCm39) |
S149P |
probably damaging |
Het |
Tbc1d19 |
T |
A |
5: 53,986,725 (GRCm39) |
S45T |
probably benign |
Het |
Tsacc |
T |
C |
3: 88,202,703 (GRCm39) |
E11G |
probably benign |
Het |
Ttc7b |
C |
T |
12: 100,461,666 (GRCm39) |
A104T |
possibly damaging |
Het |
Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
Zfp108 |
T |
A |
7: 23,960,782 (GRCm39) |
F458I |
probably damaging |
Het |
Zfp616 |
A |
T |
11: 73,976,018 (GRCm39) |
K762N |
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 |
|
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'- TGTGAAGAGTTCTCCCTGGG -3'
(R):5'- GGTGAGAACGCTTACTTTATCCCG -3'
Sequencing Primer
(F):5'- TTCTCCCTGGGGCATCAAAGAC -3'
(R):5'- CCCGTGTAAAATATATGTTCTGAGAC -3'
|
Posted On |
2018-06-06 |