Incidental Mutation 'R4387:Eno4'
| ID |
326291 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eno4
|
| Ensembl Gene |
ENSMUSG00000048029 |
| Gene Name |
enolase 4 |
| Synonyms |
6430537H07Rik |
| MMRRC Submission |
041681-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
R4387 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
58943425-58971421 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 58953208 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 187
(V187D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062584
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054280]
[ENSMUST00000200910]
[ENSMUST00000202382]
|
| AlphaFold |
Q8C042 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054280
AA Change: V187D
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000062584
Gene: ENSMUSG00000048029
AA Change: V187D
| 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: V186D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000144272
Gene: ENSMUSG00000048029
AA Change: V186D
| 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 |
unknown
Transcript: ENSMUST00000202382
AA Change: V11D
|
| SMART Domains |
Protein: ENSMUSP00000144656
Gene: ENSMUSG00000048029
AA Change: V11D
| 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: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
A |
13: 77,316,574 (GRCm38) |
|
probably null |
Het |
| 9930021J03Rik |
A |
G |
19: 29,805,315 (GRCm38) |
|
probably benign |
Het |
| Adprm |
C |
T |
11: 67,038,193 (GRCm38) |
R324K |
probably benign |
Het |
| AI481877 |
A |
T |
4: 59,060,915 (GRCm38) |
C953S |
possibly damaging |
Het |
| Calcr |
T |
A |
6: 3,707,581 (GRCm38) |
N240Y |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,712,500 (GRCm38) |
|
probably benign |
Het |
| Cd209b |
A |
G |
8: 3,925,960 (GRCm38) |
L67P |
probably damaging |
Het |
| Cp |
T |
C |
3: 19,977,202 (GRCm38) |
V601A |
probably damaging |
Het |
| Cyp2a5 |
A |
G |
7: 26,841,054 (GRCm38) |
D364G |
probably damaging |
Het |
| Fbxl7 |
C |
A |
15: 26,543,259 (GRCm38) |
S434I |
probably damaging |
Het |
| Fbxw24 |
A |
T |
9: 109,609,985 (GRCm38) |
L174Q |
probably damaging |
Het |
| Fryl |
T |
A |
5: 73,086,560 (GRCm38) |
R91S |
possibly damaging |
Het |
| Gabrd |
A |
G |
4: 155,388,932 (GRCm38) |
|
probably null |
Het |
| Gtpbp2 |
A |
G |
17: 46,166,358 (GRCm38) |
D383G |
probably benign |
Het |
| Igf1r |
A |
G |
7: 68,170,009 (GRCm38) |
I356V |
probably benign |
Het |
| Kcnc1 |
C |
A |
7: 46,397,702 (GRCm38) |
R9S |
possibly damaging |
Het |
| Lipi |
T |
A |
16: 75,573,955 (GRCm38) |
I125F |
probably damaging |
Het |
| Meig1 |
T |
C |
2: 3,409,241 (GRCm38) |
E74G |
probably damaging |
Het |
| Mgat4d |
A |
T |
8: 83,371,706 (GRCm38) |
Q366L |
probably damaging |
Het |
| Mrpl1 |
A |
G |
5: 96,238,919 (GRCm38) |
N256D |
possibly damaging |
Het |
| Nlrp4e |
A |
G |
7: 23,301,477 (GRCm38) |
K66E |
probably benign |
Het |
| Nlrp4e |
A |
G |
7: 23,321,227 (GRCm38) |
I380V |
probably benign |
Het |
| Nphp3 |
A |
G |
9: 104,030,020 (GRCm38) |
T740A |
possibly damaging |
Het |
| Olfr1080 |
T |
C |
2: 86,553,954 (GRCm38) |
T57A |
probably damaging |
Het |
| Olfr1090 |
T |
A |
2: 86,754,120 (GRCm38) |
D206V |
probably benign |
Het |
| Olfr262 |
A |
G |
19: 12,241,139 (GRCm38) |
V174A |
probably damaging |
Het |
| Pde5a |
T |
C |
3: 122,729,352 (GRCm38) |
I36T |
probably benign |
Het |
| Pign |
A |
T |
1: 105,522,060 (GRCm38) |
L914M |
possibly damaging |
Het |
| Ppm1b |
A |
G |
17: 85,015,419 (GRCm38) |
D382G |
probably benign |
Het |
| Psd3 |
T |
C |
8: 68,000,761 (GRCm38) |
Y282C |
probably damaging |
Het |
| Ptprt |
A |
T |
2: 161,927,650 (GRCm38) |
Y432N |
probably damaging |
Het |
| Rbbp6 |
T |
C |
7: 122,997,311 (GRCm38) |
|
probably null |
Het |
| Recql4 |
A |
G |
15: 76,705,958 (GRCm38) |
S659P |
probably benign |
Het |
| Rpl7a-ps3 |
G |
A |
15: 36,308,283 (GRCm38) |
|
noncoding transcript |
Het |
| Slit3 |
T |
C |
11: 35,684,048 (GRCm38) |
V1063A |
probably benign |
Het |
| Spdye4a |
A |
G |
5: 143,225,623 (GRCm38) |
V62A |
probably benign |
Het |
| Ttc6 |
G |
A |
12: 57,643,050 (GRCm38) |
G509S |
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,443,431 (GRCm38) |
T1242M |
probably benign |
Het |
| Wwc2 |
T |
C |
8: 47,831,646 (GRCm38) |
S1155G |
unknown |
Het |
| Zfp551 |
A |
T |
7: 12,418,641 (GRCm38) |
I55N |
probably damaging |
Het |
|
| Other mutations in Eno4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01672:Eno4
|
APN |
19 |
58,943,545 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL02486:Eno4
|
APN |
19 |
58,945,665 (GRCm38) |
splice site |
probably null |
|
|
IGL03087:Eno4
|
APN |
19 |
58,962,816 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
IGL03207:Eno4
|
APN |
19 |
58,953,205 (GRCm38) |
missense |
probably benign |
0.04 |
|
R0048:Eno4
|
UTSW |
19 |
58,964,538 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R0052:Eno4
|
UTSW |
19 |
58,968,553 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0052:Eno4
|
UTSW |
19 |
58,968,553 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0362:Eno4
|
UTSW |
19 |
58,943,624 (GRCm38) |
splice site |
probably benign |
|
|
R2376:Eno4
|
UTSW |
19 |
58,953,226 (GRCm38) |
missense |
probably benign |
|
|
R4678:Eno4
|
UTSW |
19 |
58,946,749 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4696:Eno4
|
UTSW |
19 |
58,945,636 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4896:Eno4
|
UTSW |
19 |
58,964,543 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4932:Eno4
|
UTSW |
19 |
58,964,457 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R5050:Eno4
|
UTSW |
19 |
58,955,496 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5092:Eno4
|
UTSW |
19 |
58,945,591 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5104:Eno4
|
UTSW |
19 |
58,945,541 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5300:Eno4
|
UTSW |
19 |
58,955,550 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5450:Eno4
|
UTSW |
19 |
58,960,247 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R5689:Eno4
|
UTSW |
19 |
58,970,656 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5698:Eno4
|
UTSW |
19 |
58,968,472 (GRCm38) |
splice site |
probably null |
|
|
R5874:Eno4
|
UTSW |
19 |
58,946,806 (GRCm38) |
missense |
probably benign |
|
|
R6027:Eno4
|
UTSW |
19 |
58,946,830 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6316:Eno4
|
UTSW |
19 |
58,960,291 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6494:Eno4
|
UTSW |
19 |
58,962,794 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6706:Eno4
|
UTSW |
19 |
58,970,680 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7779:Eno4
|
UTSW |
19 |
58,968,543 (GRCm38) |
missense |
probably benign |
0.19 |
|
R8169:Eno4
|
UTSW |
19 |
58,946,652 (GRCm38) |
missense |
probably benign |
|
|
R8879:Eno4
|
UTSW |
19 |
58,970,722 (GRCm38) |
missense |
probably benign |
0.05 |
|
R9090:Eno4
|
UTSW |
19 |
58,962,828 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9093:Eno4
|
UTSW |
19 |
58,953,168 (GRCm38) |
nonsense |
probably null |
|
|
R9271:Eno4
|
UTSW |
19 |
58,962,828 (GRCm38) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACCTTAGAGAACATGGCTTTCC -3'
(R):5'- GGATAAAACCTTGTCACCCAGC -3'
Sequencing Primer
(F):5'- CTTGAACAAGAAAAATGGCTTCGAC -3'
(R):5'- TTGTCACCCAGCACAGCAG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation