Incidental Mutation 'R1383:Eef1akmt1'
| ID |
163139 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eef1akmt1
|
| Ensembl Gene |
ENSMUSG00000021951 |
| Gene Name |
EEF1A alpha lysine methyltransferase 1 |
| Synonyms |
Ayu21-96, N6amt2, GtAyu21-96, 2510005D08Rik, Gt(Ayu21)96Imeg |
| MMRRC Submission |
039445-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1383 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
57787052-57809039 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 57795489 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022518
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022518]
|
| AlphaFold |
Q9CY45 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022518
|
| SMART Domains |
Protein: ENSMUSP00000022518
Gene: ENSMUSG00000021951
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:N6-adenineMlase
|
59 |
218 |
7.3e-66 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225504
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 88.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asph |
T |
A |
4: 9,537,807 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Ext2 |
T |
C |
2: 93,636,458 (GRCm39) |
T219A |
possibly damaging |
Het |
| F5 |
G |
C |
1: 164,026,486 (GRCm39) |
R1686P |
probably damaging |
Het |
| Fat2 |
G |
A |
11: 55,201,599 (GRCm39) |
H492Y |
probably benign |
Het |
| Glyr1 |
GCTGCC |
G |
16: 4,839,209 (GRCm39) |
|
probably null |
Het |
| Kcmf1 |
A |
G |
6: 72,826,565 (GRCm39) |
F155L |
possibly damaging |
Het |
| Miox |
G |
A |
15: 89,219,245 (GRCm39) |
R29Q |
probably damaging |
Het |
| Mmrn1 |
A |
G |
6: 60,953,306 (GRCm39) |
Y529C |
probably damaging |
Het |
| Msmo1 |
G |
A |
8: 65,176,679 (GRCm39) |
T116I |
probably benign |
Het |
| Or4c12 |
A |
T |
2: 89,773,895 (GRCm39) |
M188K |
probably benign |
Het |
| Or5aq1b |
A |
G |
2: 86,902,136 (GRCm39) |
L114P |
probably damaging |
Het |
| Or8g2 |
A |
T |
9: 39,821,160 (GRCm39) |
K20N |
probably benign |
Het |
| Or8k40 |
C |
T |
2: 86,584,838 (GRCm39) |
M81I |
possibly damaging |
Het |
| Ptpn6 |
A |
G |
6: 124,698,856 (GRCm39) |
I486T |
probably damaging |
Het |
| Slc12a8 |
T |
C |
16: 33,355,357 (GRCm39) |
F58L |
probably damaging |
Het |
| Slc5a2 |
G |
C |
7: 127,869,803 (GRCm39) |
R412P |
probably damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,060,331 (GRCm39) |
I525T |
probably benign |
Het |
| Spopfm1 |
A |
G |
3: 94,173,102 (GRCm39) |
M37V |
probably benign |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
| Znrf3 |
G |
C |
11: 5,231,994 (GRCm39) |
F410L |
probably damaging |
Het |
|
| Other mutations in Eef1akmt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01110:Eef1akmt1
|
APN |
14 |
57,787,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCAAACCGCATGACAACATTTAC -3'
(R):5'- ATATCAGCAGCCCTCGTACTCAGG -3'
Sequencing Primer
(F):5'- CCGCATGACAACATTTACATATTG -3'
(R):5'- TCGTACTCAGGGTGTAGCCTC -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation