Incidental Mutation 'R2875:Eno1b'
| ID |
260533 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eno1b
|
| Ensembl Gene |
ENSMUSG00000059040 |
| Gene Name |
enolase 1B, retrotransposed |
| Synonyms |
Gm5506 |
| MMRRC Submission |
040463-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R2875 (G1)
|
| Quality Score |
177 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
48178402-48181446 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 48180851 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 343
(K343R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075513
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076155]
|
| AlphaFold |
P17182 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076155
AA Change: K343R
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000075513
Gene: ENSMUSG00000059040
AA Change: K343R
| Domain | Start | End | E-Value | Type |
|---|
|
Enolase_N
|
3 |
134 |
4.75e-91 |
SMART |
|
Enolase_C
|
142 |
431 |
1.22e-207 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (1/1) |
| MGI Phenotype |
FUNCTION: This gene may represent an evolving pseudogene of the alpha-enolase (enolase 1, alpha non-neuron) gene, which has multiple pseudogenes. This gene has an intact open reading frame as well as strong transcriptional support. The length of encoded protein is conserved, compared to the original enolase 1 protein. The exact function of this gene is unknown. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
T |
A |
8: 44,080,177 (GRCm39) |
K16* |
probably null |
Het |
| Adgb |
T |
G |
10: 10,298,463 (GRCm39) |
T422P |
probably damaging |
Het |
| Adrm1 |
A |
G |
2: 179,817,411 (GRCm39) |
T293A |
probably damaging |
Het |
| Baz1a |
A |
T |
12: 54,969,904 (GRCm39) |
D585E |
probably damaging |
Het |
| Ccdc152 |
T |
C |
15: 3,327,663 (GRCm39) |
N38S |
probably damaging |
Het |
| Cenpf |
A |
G |
1: 189,390,841 (GRCm39) |
M997T |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,414,625 (GRCm39) |
I9V |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,598,907 (GRCm39) |
N995S |
probably benign |
Het |
| Dnah9 |
C |
A |
11: 66,059,287 (GRCm39) |
G3C |
possibly damaging |
Het |
| Dock2 |
A |
G |
11: 34,609,712 (GRCm39) |
S243P |
probably damaging |
Het |
| Eif2ak3 |
T |
C |
6: 70,860,623 (GRCm39) |
S400P |
probably damaging |
Het |
| Grk6 |
A |
G |
13: 55,600,117 (GRCm39) |
H271R |
probably damaging |
Het |
| H2-Ab1 |
A |
C |
17: 34,482,286 (GRCm39) |
M1L |
probably benign |
Het |
| Irf8 |
C |
A |
8: 121,481,202 (GRCm39) |
P262Q |
probably damaging |
Het |
| Kcnc3 |
G |
T |
7: 44,240,961 (GRCm39) |
G218* |
probably null |
Het |
| Krt9 |
C |
A |
11: 100,080,031 (GRCm39) |
G454* |
probably null |
Het |
| Mgrn1 |
C |
T |
16: 4,725,280 (GRCm39) |
T47I |
possibly damaging |
Het |
| Ndst1 |
A |
T |
18: 60,823,119 (GRCm39) |
F816I |
probably damaging |
Het |
| Or11g26 |
T |
A |
14: 50,753,269 (GRCm39) |
W203R |
probably benign |
Het |
| Or5h25 |
A |
T |
16: 58,930,165 (GRCm39) |
D269E |
probably benign |
Het |
| Phf12 |
C |
A |
11: 77,900,573 (GRCm39) |
T223N |
probably damaging |
Het |
| Rad1 |
T |
C |
15: 10,490,417 (GRCm39) |
V128A |
probably benign |
Het |
| Rad54l |
C |
T |
4: 115,959,050 (GRCm39) |
R382Q |
probably benign |
Het |
| Rhbdd1 |
A |
G |
1: 82,346,090 (GRCm39) |
D215G |
probably benign |
Het |
| Sdc4 |
T |
C |
2: 164,273,211 (GRCm39) |
D33G |
possibly damaging |
Het |
| Smarca4 |
A |
T |
9: 21,553,876 (GRCm39) |
K387N |
possibly damaging |
Het |
| St3gal5 |
A |
G |
6: 72,124,114 (GRCm39) |
M214V |
possibly damaging |
Het |
| Stk25 |
T |
C |
1: 93,556,973 (GRCm39) |
D15G |
possibly damaging |
Het |
| Timm21 |
T |
C |
18: 84,969,217 (GRCm39) |
D69G |
probably benign |
Het |
| Ttll4 |
A |
G |
1: 74,725,597 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,589,438 (GRCm39) |
N21272I |
probably damaging |
Het |
| Uchl3 |
A |
G |
14: 101,905,996 (GRCm39) |
H153R |
probably benign |
Het |
| Zbed6 |
C |
T |
1: 133,584,598 (GRCm39) |
C913Y |
probably damaging |
Het |
| Zcwpw1 |
T |
C |
5: 137,808,304 (GRCm39) |
S251P |
probably damaging |
Het |
| Zeb1 |
GGA |
GGAAGA |
18: 5,772,859 (GRCm39) |
|
probably benign |
Het |
| Zscan29 |
T |
C |
2: 120,994,581 (GRCm39) |
Y468C |
probably damaging |
Het |
|
| Other mutations in Eno1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03196:Eno1b
|
APN |
18 |
48,180,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0025:Eno1b
|
UTSW |
18 |
48,180,806 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0153:Eno1b
|
UTSW |
18 |
48,180,806 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0173:Eno1b
|
UTSW |
18 |
48,180,806 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0230:Eno1b
|
UTSW |
18 |
48,180,806 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0233:Eno1b
|
UTSW |
18 |
48,180,806 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0396:Eno1b
|
UTSW |
18 |
48,180,806 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0597:Eno1b
|
UTSW |
18 |
48,180,806 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1834:Eno1b
|
UTSW |
18 |
48,180,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2094:Eno1b
|
UTSW |
18 |
48,180,542 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4240:Eno1b
|
UTSW |
18 |
48,180,907 (GRCm39) |
missense |
probably benign |
|
|
R4611:Eno1b
|
UTSW |
18 |
48,180,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6917:Eno1b
|
UTSW |
18 |
48,180,656 (GRCm39) |
missense |
probably benign |
|
|
R7114:Eno1b
|
UTSW |
18 |
48,180,560 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7217:Eno1b
|
UTSW |
18 |
48,180,746 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7503:Eno1b
|
UTSW |
18 |
48,179,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8061:Eno1b
|
UTSW |
18 |
48,180,725 (GRCm39) |
nonsense |
probably null |
|
|
R9306:Eno1b
|
UTSW |
18 |
48,180,922 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGATCTGTACAAGTCCTTCG -3'
(R):5'- AAGGATCTGGTTGTACTTGGCC -3'
Sequencing Primer
(F):5'- TTCGTCCAGAACTACCCAGTGG -3'
(R):5'- TTGTACTTGGCCAGGCGC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation