Incidental Mutation 'R6316:Eno4'
| ID |
510005 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eno4
|
| Ensembl Gene |
ENSMUSG00000048029 |
| Gene Name |
enolase 4 |
| Synonyms |
6430537H07Rik |
| MMRRC Submission |
044416-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R6316 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
58931857-58959853 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 58948723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144656
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054280]
[ENSMUST00000200910]
[ENSMUST00000202382]
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201123
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000202382
|
| SMART Domains |
Protein: ENSMUSP00000144656
Gene: ENSMUSG00000048029
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 98.0%
|
| Validation Efficiency |
97% (38/39) |
| 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 |
|---|
| Abca12 |
T |
C |
1: 71,353,118 (GRCm39) |
T775A |
probably benign |
Het |
| Adam6a |
A |
T |
12: 113,509,196 (GRCm39) |
N523I |
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,647,187 (GRCm39) |
T3118A |
possibly damaging |
Het |
| Arhgef4 |
G |
A |
1: 34,762,558 (GRCm39) |
A605T |
unknown |
Het |
| Asxl3 |
A |
G |
18: 22,655,839 (GRCm39) |
Y1283C |
probably damaging |
Het |
| Btbd2 |
T |
A |
10: 80,480,612 (GRCm39) |
I319F |
probably damaging |
Het |
| Glis2 |
T |
A |
16: 4,431,700 (GRCm39) |
|
probably benign |
Het |
| Grin2b |
A |
T |
6: 135,757,277 (GRCm39) |
C395S |
probably benign |
Het |
| H1f8 |
T |
C |
6: 115,925,876 (GRCm39) |
|
probably null |
Het |
| Kansl1l |
T |
A |
1: 66,774,744 (GRCm39) |
Y694F |
probably benign |
Het |
| Kcnj1 |
A |
T |
9: 32,308,632 (GRCm39) |
E332V |
probably damaging |
Het |
| Klhdc7a |
T |
C |
4: 139,694,113 (GRCm39) |
E278G |
probably benign |
Het |
| Krt33a |
T |
C |
11: 99,905,027 (GRCm39) |
N160D |
probably damaging |
Het |
| Ksr2 |
A |
G |
5: 117,823,567 (GRCm39) |
N448S |
probably damaging |
Het |
| Lpar6 |
A |
G |
14: 73,476,774 (GRCm39) |
Y245C |
probably damaging |
Het |
| Magel2 |
T |
C |
7: 62,028,467 (GRCm39) |
I457T |
possibly damaging |
Het |
| Manf |
A |
G |
9: 106,766,385 (GRCm39) |
L132P |
probably damaging |
Het |
| Moxd2 |
T |
C |
6: 40,860,481 (GRCm39) |
D321G |
probably damaging |
Het |
| Mtmr12 |
T |
A |
15: 12,236,199 (GRCm39) |
C153S |
probably null |
Het |
| Muc16 |
T |
C |
9: 18,553,115 (GRCm39) |
T4393A |
probably benign |
Het |
| Notch3 |
T |
C |
17: 32,356,787 (GRCm39) |
|
probably null |
Het |
| Or9e1 |
A |
G |
11: 58,732,768 (GRCm39) |
Y276C |
probably damaging |
Het |
| Pirb |
T |
A |
7: 3,720,822 (GRCm39) |
K225N |
probably damaging |
Het |
| Plch1 |
C |
T |
3: 63,688,811 (GRCm39) |
W131* |
probably null |
Het |
| Rilpl2 |
A |
G |
5: 124,615,943 (GRCm39) |
V69A |
probably damaging |
Het |
| Smdt1 |
T |
C |
15: 82,232,210 (GRCm39) |
V99A |
probably damaging |
Het |
| Smpd1 |
T |
C |
7: 105,204,709 (GRCm39) |
V196A |
probably benign |
Het |
| Supt20 |
TCAGCAGCAGCAGCAGCAGCAGCA |
TCAGCAGCAGCAGCAGCAGCAGCAGCA |
3: 54,635,069 (GRCm39) |
|
probably benign |
Het |
| Tcte1 |
A |
G |
17: 45,845,786 (GRCm39) |
H130R |
probably benign |
Het |
| Tead1 |
C |
A |
7: 112,491,046 (GRCm39) |
Q296K |
probably damaging |
Het |
| Thoc2l |
G |
C |
5: 104,667,595 (GRCm39) |
G706R |
probably damaging |
Het |
| Tmem163 |
C |
T |
1: 127,479,102 (GRCm39) |
S139N |
probably benign |
Het |
| Tor1aip2 |
G |
T |
1: 155,937,840 (GRCm39) |
D192Y |
probably damaging |
Het |
| Trgv2 |
G |
A |
13: 19,520,912 (GRCm39) |
Q61* |
probably null |
Het |
| Trib1 |
T |
C |
15: 59,521,264 (GRCm39) |
S85P |
probably benign |
Het |
| Trrap |
T |
A |
5: 144,750,336 (GRCm39) |
N1581K |
probably benign |
Het |
| Vmn1r181 |
G |
A |
7: 23,684,183 (GRCm39) |
R216Q |
probably benign |
Het |
| Xrn2 |
A |
G |
2: 146,883,930 (GRCm39) |
Y563C |
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 |
|
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'- GTTTTGCAGCCACCGATCAC -3'
(R):5'- AGTCCATAATGAAGGGCTTTAAACC -3'
Sequencing Primer
(F):5'- CGATCACTGGCAAGGTATCTC -3'
(R):5'- CATTATGTGAGCCACCATGTG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation