Incidental Mutation 'IGL01763:Eef1akmt3'
| ID |
153608 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Eef1akmt3
|
| Ensembl Gene |
ENSMUSG00000080115 |
| Gene Name |
EEF1A lysine methyltransferase 3 |
| Synonyms |
Gm16109, Fam119b, EG546486, Mettl21b |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
IGL01763
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
126868654-126877883 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 126876952 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 65
(D65G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111939
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006915]
[ENSMUST00000116231]
[ENSMUST00000120542]
[ENSMUST00000152960]
|
| AlphaFold |
D3YWP0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006915
|
| SMART Domains |
Protein: ENSMUSP00000006915
Gene: ENSMUSG00000006732
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_4
|
70 |
248 |
3.5e-62 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116231
AA Change: D65G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000111939
Gene: ENSMUSG00000080115
AA Change: D65G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_16
|
35 |
198 |
4.4e-39 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120542
|
| SMART Domains |
Protein: ENSMUSP00000113030
Gene: ENSMUSG00000006732
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Methyltransf_4
|
29 |
191 |
3.9e-44 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135655
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139486
|
| SMART Domains |
Protein: ENSMUSP00000118885
Gene: ENSMUSG00000006732
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3CKK|A
|
24 |
85 |
3e-34 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152960
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer3 |
C |
T |
7: 97,915,339 (GRCm39) |
|
probably benign |
Het |
| Atp4a |
A |
G |
7: 30,414,943 (GRCm39) |
E244G |
probably benign |
Het |
| Cdh20 |
T |
C |
1: 109,993,520 (GRCm39) |
I325T |
probably benign |
Het |
| Dennd2c |
T |
C |
3: 103,064,224 (GRCm39) |
L623P |
probably damaging |
Het |
| Gimap3 |
T |
A |
6: 48,742,430 (GRCm39) |
S167C |
probably damaging |
Het |
| Gm12185 |
A |
T |
11: 48,806,671 (GRCm39) |
F173L |
probably benign |
Het |
| Gm5611 |
A |
G |
9: 16,941,699 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr161 |
T |
C |
1: 165,144,820 (GRCm39) |
S387P |
probably benign |
Het |
| Hsd17b8 |
A |
G |
17: 34,245,835 (GRCm39) |
V219A |
probably damaging |
Het |
| Mtfr2 |
G |
A |
10: 20,228,683 (GRCm39) |
|
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,177,245 (GRCm39) |
K437R |
probably benign |
Het |
| Myo15a |
A |
G |
11: 60,412,564 (GRCm39) |
D3335G |
probably benign |
Het |
| Ndufaf7 |
C |
T |
17: 79,253,771 (GRCm39) |
T323I |
possibly damaging |
Het |
| Or5g29 |
A |
G |
2: 85,421,691 (GRCm39) |
N269S |
probably benign |
Het |
| Pcdh15 |
T |
C |
10: 74,046,293 (GRCm39) |
V190A |
probably benign |
Het |
| Pdzd2 |
A |
G |
15: 12,372,632 (GRCm39) |
V2501A |
probably benign |
Het |
| Piwil4 |
A |
T |
9: 14,617,562 (GRCm39) |
|
probably null |
Het |
| Plxnb2 |
C |
T |
15: 89,046,184 (GRCm39) |
|
probably null |
Het |
| Sgcd |
A |
G |
11: 47,085,856 (GRCm39) |
|
probably null |
Het |
| Sin3b |
A |
G |
8: 73,473,236 (GRCm39) |
K519E |
probably damaging |
Het |
| Slc26a4 |
C |
T |
12: 31,578,853 (GRCm39) |
|
probably benign |
Het |
| Spty2d1 |
T |
C |
7: 46,649,596 (GRCm39) |
D33G |
probably damaging |
Het |
| Txnrd3 |
C |
T |
6: 89,638,537 (GRCm39) |
T242I |
probably damaging |
Het |
| Vps13b |
A |
G |
15: 35,709,945 (GRCm39) |
D1964G |
possibly damaging |
Het |
| Wdr24 |
A |
G |
17: 26,045,164 (GRCm39) |
T300A |
probably benign |
Het |
| Zc2hc1c |
C |
A |
12: 85,336,450 (GRCm39) |
Q36K |
probably benign |
Het |
| Zfp719 |
A |
T |
7: 43,233,613 (GRCm39) |
I11F |
probably benign |
Het |
|
| Other mutations in Eef1akmt3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02346:Eef1akmt3
|
APN |
10 |
126,868,805 (GRCm39) |
missense |
probably benign |
|
|
R0158:Eef1akmt3
|
UTSW |
10 |
126,869,142 (GRCm39) |
nonsense |
probably null |
|
|
R2171:Eef1akmt3
|
UTSW |
10 |
126,868,843 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4930:Eef1akmt3
|
UTSW |
10 |
126,877,224 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5437:Eef1akmt3
|
UTSW |
10 |
126,869,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6043:Eef1akmt3
|
UTSW |
10 |
126,869,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6237:Eef1akmt3
|
UTSW |
10 |
126,868,877 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7206:Eef1akmt3
|
UTSW |
10 |
126,876,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7820:Eef1akmt3
|
UTSW |
10 |
126,869,063 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9001:Eef1akmt3
|
UTSW |
10 |
126,877,232 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9631:Eef1akmt3
|
UTSW |
10 |
126,877,161 (GRCm39) |
missense |
probably benign |
0.11 |
|
| Posted On |
2014-02-04 |
Incidental Mutation