Incidental Mutation 'IGL01110:Eef1akmt1'
| ID |
52688 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Eef1akmt1
|
| Ensembl Gene |
ENSMUSG00000021951 |
| Gene Name |
EEF1A alpha lysine methyltransferase 1 |
| Synonyms |
Ayu21-96, N6amt2, GtAyu21-96, 2510005D08Rik, Gt(Ayu21)96Imeg |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01110
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
57787052-57809039 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 57787247 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 210
(F210V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022518
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022518]
|
| AlphaFold |
Q9CY45 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022518
AA Change: F210V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022518
Gene: ENSMUSG00000021951
AA Change: F210V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:N6-adenineMlase
|
59 |
218 |
7.3e-66 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225504
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bbs1 |
G |
A |
19: 4,942,953 (GRCm39) |
S479L |
possibly damaging |
Het |
| Capn6 |
G |
T |
X: 142,590,246 (GRCm39) |
P385H |
probably damaging |
Het |
| Cavin1 |
C |
A |
11: 100,861,300 (GRCm39) |
|
probably benign |
Het |
| Cdh9 |
A |
G |
15: 16,856,012 (GRCm39) |
D684G |
possibly damaging |
Het |
| Dlgap5 |
A |
G |
14: 47,631,783 (GRCm39) |
|
probably benign |
Het |
| Doc2g |
A |
G |
19: 4,056,577 (GRCm39) |
E321G |
probably damaging |
Het |
| Eya1 |
A |
G |
1: 14,353,354 (GRCm39) |
S65P |
probably damaging |
Het |
| Gpx8 |
C |
T |
13: 113,182,218 (GRCm39) |
V72I |
probably benign |
Het |
| Gria1 |
A |
G |
11: 57,180,207 (GRCm39) |
E650G |
probably damaging |
Het |
| Hic1 |
A |
T |
11: 75,056,345 (GRCm39) |
L848Q |
possibly damaging |
Het |
| Mmp1b |
C |
T |
9: 7,384,921 (GRCm39) |
D243N |
probably benign |
Het |
| Mov10l1 |
G |
T |
15: 88,905,460 (GRCm39) |
V872L |
probably benign |
Het |
| Or8g50 |
T |
C |
9: 39,648,693 (GRCm39) |
V194A |
probably benign |
Het |
| Or8h9 |
C |
T |
2: 86,789,265 (GRCm39) |
C179Y |
possibly damaging |
Het |
| Otof |
A |
G |
5: 30,619,069 (GRCm39) |
F25S |
probably damaging |
Het |
| Patj |
A |
C |
4: 98,301,261 (GRCm39) |
N182T |
probably damaging |
Het |
| Pik3r6 |
G |
A |
11: 68,419,652 (GRCm39) |
|
probably null |
Het |
| Ppil6 |
G |
A |
10: 41,374,406 (GRCm39) |
V96I |
probably benign |
Het |
| Sardh |
T |
A |
2: 27,105,125 (GRCm39) |
Q666L |
probably benign |
Het |
| Tasp1 |
A |
G |
2: 139,819,538 (GRCm39) |
S222P |
probably damaging |
Het |
| Tln2 |
G |
T |
9: 67,157,864 (GRCm39) |
C1158* |
probably null |
Het |
| Zfp707 |
T |
A |
15: 75,847,044 (GRCm39) |
C292S |
probably damaging |
Het |
| Zfp956 |
A |
G |
6: 47,940,346 (GRCm39) |
E235G |
probably benign |
Het |
|
| Other mutations in Eef1akmt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02011:Eef1akmt1
|
APN |
14 |
57,795,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02839:Eef1akmt1
|
APN |
14 |
57,787,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03090:Eef1akmt1
|
APN |
14 |
57,795,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1383:Eef1akmt1
|
UTSW |
14 |
57,795,489 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1447:Eef1akmt1
|
UTSW |
14 |
57,803,441 (GRCm39) |
nonsense |
probably null |
|
|
R1994:Eef1akmt1
|
UTSW |
14 |
57,787,911 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3026:Eef1akmt1
|
UTSW |
14 |
57,787,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4582:Eef1akmt1
|
UTSW |
14 |
57,787,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4921:Eef1akmt1
|
UTSW |
14 |
57,788,089 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5071:Eef1akmt1
|
UTSW |
14 |
57,803,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5073:Eef1akmt1
|
UTSW |
14 |
57,803,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6112:Eef1akmt1
|
UTSW |
14 |
57,787,330 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7578:Eef1akmt1
|
UTSW |
14 |
57,787,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation