Incidental Mutation 'IGL02486:Eno4'
ID |
295453 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Eno4
|
Ensembl Gene |
ENSMUSG00000048029 |
Gene Name |
enolase 4 |
Synonyms |
6430537H07Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
IGL02486
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
58931857-58959853 bp(+) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
A to G
at 58934097 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144272
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054280]
[ENSMUST00000200910]
|
AlphaFold |
Q8C042 |
Predicted Effect |
probably null
Transcript: ENSMUST00000054280
|
SMART Domains |
Protein: ENSMUSP00000062584 Gene: ENSMUSG00000048029
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 null
Transcript: ENSMUST00000200910
|
SMART Domains |
Protein: ENSMUSP00000144272 Gene: ENSMUSG00000048029
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 |
|
Coding Region Coverage |
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010106E10Rik |
T |
A |
X: 111,424,955 (GRCm39) |
N147K |
probably benign |
Het |
Abtb3 |
C |
A |
10: 85,476,419 (GRCm39) |
P900H |
probably damaging |
Het |
Bcas1 |
T |
C |
2: 170,248,318 (GRCm39) |
D201G |
probably damaging |
Het |
Bmp1 |
T |
A |
14: 70,742,216 (GRCm39) |
D333V |
possibly damaging |
Het |
Capn6 |
T |
C |
X: 142,587,673 (GRCm39) |
E535G |
probably benign |
Het |
Cdin1 |
T |
C |
2: 115,607,487 (GRCm39) |
V280A |
possibly damaging |
Het |
Chac2 |
T |
C |
11: 30,927,625 (GRCm39) |
D86G |
probably damaging |
Het |
Col14a1 |
T |
A |
15: 55,252,092 (GRCm39) |
|
probably benign |
Het |
Daam1 |
T |
C |
12: 71,993,919 (GRCm39) |
|
probably benign |
Het |
Elapor2 |
T |
A |
5: 9,472,323 (GRCm39) |
V340E |
probably benign |
Het |
Fat1 |
T |
C |
8: 45,478,109 (GRCm39) |
V2385A |
probably benign |
Het |
Ffar4 |
T |
C |
19: 38,102,208 (GRCm39) |
I281T |
possibly damaging |
Het |
Flcn |
C |
T |
11: 59,691,869 (GRCm39) |
W260* |
probably null |
Het |
Fry |
T |
G |
5: 150,414,642 (GRCm39) |
S496A |
probably damaging |
Het |
Gk |
T |
A |
X: 84,759,274 (GRCm39) |
I373F |
possibly damaging |
Het |
Gpr108 |
T |
C |
17: 57,542,977 (GRCm39) |
N528S |
probably damaging |
Het |
Hey1 |
T |
A |
3: 8,731,579 (GRCm39) |
R50W |
probably damaging |
Het |
Hgf |
A |
G |
5: 16,807,287 (GRCm39) |
Y393C |
probably damaging |
Het |
Hmcn2 |
A |
T |
2: 31,310,107 (GRCm39) |
E3260D |
probably damaging |
Het |
Ift172 |
A |
G |
5: 31,414,927 (GRCm39) |
I1365T |
probably damaging |
Het |
Letmd1 |
A |
G |
15: 100,372,992 (GRCm39) |
R31G |
probably damaging |
Het |
Mak16 |
T |
C |
8: 31,650,614 (GRCm39) |
|
probably benign |
Het |
Mapkapk3 |
C |
T |
9: 107,166,467 (GRCm39) |
G26D |
probably damaging |
Het |
Mphosph8 |
T |
C |
14: 56,925,844 (GRCm39) |
V603A |
possibly damaging |
Het |
Myom1 |
G |
T |
17: 71,406,939 (GRCm39) |
|
probably benign |
Het |
Neb |
T |
A |
2: 52,172,615 (GRCm39) |
N1564I |
possibly damaging |
Het |
Nox1 |
C |
T |
X: 132,993,560 (GRCm39) |
G433D |
probably damaging |
Het |
Or11h6 |
T |
C |
14: 50,880,089 (GRCm39) |
F111S |
probably damaging |
Het |
Or2n1b |
T |
A |
17: 38,460,112 (GRCm39) |
L211Q |
probably damaging |
Het |
Or51i2 |
T |
C |
7: 103,689,617 (GRCm39) |
S205P |
probably damaging |
Het |
Or52m1 |
A |
T |
7: 102,289,627 (GRCm39) |
H58L |
probably damaging |
Het |
Rcc2 |
T |
C |
4: 140,437,673 (GRCm39) |
W135R |
probably damaging |
Het |
Rgl2 |
A |
G |
17: 34,154,954 (GRCm39) |
I205V |
probably damaging |
Het |
Robo4 |
G |
A |
9: 37,319,670 (GRCm39) |
G640E |
probably damaging |
Het |
Slc26a5 |
A |
G |
5: 22,051,323 (GRCm39) |
F64L |
probably damaging |
Het |
Slc27a2 |
A |
G |
2: 126,395,270 (GRCm39) |
T66A |
probably benign |
Het |
St18 |
T |
C |
1: 6,890,307 (GRCm39) |
S580P |
probably damaging |
Het |
Syt15 |
G |
A |
14: 33,944,933 (GRCm39) |
R160K |
probably damaging |
Het |
Tmem63b |
A |
G |
17: 45,984,909 (GRCm39) |
S200P |
probably damaging |
Het |
Tnks |
T |
A |
8: 35,318,352 (GRCm39) |
N841I |
probably damaging |
Het |
Tnr |
G |
A |
1: 159,679,664 (GRCm39) |
|
probably null |
Het |
Unc13d |
A |
G |
11: 115,960,632 (GRCm39) |
|
probably benign |
Het |
Usp4 |
T |
C |
9: 108,228,228 (GRCm39) |
L74P |
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 |
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 |
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 |
2015-04-16 |