Incidental Mutation 'R5349:Eif4a3l1'
| ID |
422766 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eif4a3l1
|
| Ensembl Gene |
ENSMUSG00000094973 |
| Gene Name |
eukaryotic translation initiation factor 4A3 like 1 |
| Synonyms |
B020013A22Rik, Gm8994 |
| MMRRC Submission |
042928-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.914)
|
| Stock # |
R5349 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
136304537-136306981 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 136306694 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 385
(D385V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144809
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077886]
[ENSMUST00000204530]
[ENSMUST00000204966]
|
| AlphaFold |
E9PV04 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077886
AA Change: D385V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133154
Gene: ENSMUSG00000094973
AA Change: D385V
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
57 |
254 |
4.55e-57 |
SMART |
|
HELICc
|
291 |
372 |
1.63e-35 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204530
AA Change: D385V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144809
Gene: ENSMUSG00000094973
AA Change: D385V
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
57 |
254 |
4.55e-57 |
SMART |
|
HELICc
|
291 |
372 |
1.63e-35 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204966
|
| SMART Domains |
Protein: ENSMUSP00000145166
Gene: ENSMUSG00000094973
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
57 |
233 |
1.8e-41 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn3 |
T |
C |
19: 4,917,986 (GRCm39) |
E327G |
possibly damaging |
Het |
| Cd209d |
T |
G |
8: 3,928,320 (GRCm39) |
M22L |
probably benign |
Het |
| Chrna2 |
T |
C |
14: 66,380,956 (GRCm39) |
V75A |
probably damaging |
Het |
| Cnst |
A |
G |
1: 179,450,462 (GRCm39) |
E642G |
possibly damaging |
Het |
| Diaph1 |
A |
G |
18: 38,024,125 (GRCm39) |
V571A |
unknown |
Het |
| Dip2c |
C |
A |
13: 9,672,689 (GRCm39) |
H1032N |
probably damaging |
Het |
| Fbxl3 |
T |
C |
14: 103,333,012 (GRCm39) |
|
probably benign |
Het |
| Glb1 |
T |
C |
9: 114,263,529 (GRCm39) |
|
probably null |
Het |
| Gm8220 |
T |
C |
14: 44,525,634 (GRCm39) |
I101T |
probably benign |
Het |
| Grin2b |
A |
G |
6: 136,021,281 (GRCm39) |
C7R |
possibly damaging |
Het |
| Myo15a |
T |
C |
11: 60,384,409 (GRCm39) |
I516T |
probably damaging |
Het |
| Nr1i3 |
A |
G |
1: 171,042,641 (GRCm39) |
D89G |
possibly damaging |
Het |
| Ogfod1 |
T |
G |
8: 94,781,876 (GRCm39) |
|
probably benign |
Het |
| Or4k2 |
G |
T |
14: 50,424,230 (GRCm39) |
S148* |
probably null |
Het |
| Pard3 |
G |
T |
8: 128,142,224 (GRCm39) |
D930Y |
probably damaging |
Het |
| Pde7b |
C |
T |
10: 20,494,932 (GRCm39) |
C9Y |
probably damaging |
Het |
| Pilra |
T |
A |
5: 137,829,488 (GRCm39) |
D192V |
probably damaging |
Het |
| Ptprj |
A |
G |
2: 90,301,605 (GRCm39) |
S176P |
probably benign |
Het |
| Slc4a2 |
T |
C |
5: 24,640,633 (GRCm39) |
V685A |
possibly damaging |
Het |
| Srxn1 |
G |
A |
2: 151,947,799 (GRCm39) |
V66M |
probably damaging |
Het |
| Stox2 |
A |
G |
8: 47,740,951 (GRCm39) |
F44L |
possibly damaging |
Het |
| Tlr11 |
T |
C |
14: 50,598,337 (GRCm39) |
F108L |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,638,450 (GRCm39) |
I13943M |
probably damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,710,856 (GRCm39) |
D2577G |
probably damaging |
Het |
| Zyg11a |
A |
T |
4: 108,040,929 (GRCm39) |
F675I |
probably damaging |
Het |
|
| Other mutations in Eif4a3l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00970:Eif4a3l1
|
APN |
6 |
136,306,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02480:Eif4a3l1
|
APN |
6 |
136,306,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03048:Eif4a3l1
|
UTSW |
6 |
136,306,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0153:Eif4a3l1
|
UTSW |
6 |
136,305,842 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1602:Eif4a3l1
|
UTSW |
6 |
136,305,778 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2258:Eif4a3l1
|
UTSW |
6 |
136,305,559 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3915:Eif4a3l1
|
UTSW |
6 |
136,306,420 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4898:Eif4a3l1
|
UTSW |
6 |
136,305,737 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4902:Eif4a3l1
|
UTSW |
6 |
136,306,262 (GRCm39) |
missense |
probably benign |
0.42 |
|
R5488:Eif4a3l1
|
UTSW |
6 |
136,306,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5491:Eif4a3l1
|
UTSW |
6 |
136,306,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5493:Eif4a3l1
|
UTSW |
6 |
136,306,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5494:Eif4a3l1
|
UTSW |
6 |
136,306,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5548:Eif4a3l1
|
UTSW |
6 |
136,306,568 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5668:Eif4a3l1
|
UTSW |
6 |
136,306,393 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5998:Eif4a3l1
|
UTSW |
6 |
136,305,622 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6393:Eif4a3l1
|
UTSW |
6 |
136,305,596 (GRCm39) |
missense |
probably benign |
|
|
R6898:Eif4a3l1
|
UTSW |
6 |
136,305,617 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7180:Eif4a3l1
|
UTSW |
6 |
136,306,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7193:Eif4a3l1
|
UTSW |
6 |
136,306,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7274:Eif4a3l1
|
UTSW |
6 |
136,306,396 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7731:Eif4a3l1
|
UTSW |
6 |
136,305,871 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8350:Eif4a3l1
|
UTSW |
6 |
136,306,241 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8351:Eif4a3l1
|
UTSW |
6 |
136,305,542 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
|
R8363:Eif4a3l1
|
UTSW |
6 |
136,306,453 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8450:Eif4a3l1
|
UTSW |
6 |
136,306,241 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8451:Eif4a3l1
|
UTSW |
6 |
136,305,542 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
|
R8682:Eif4a3l1
|
UTSW |
6 |
136,306,027 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9229:Eif4a3l1
|
UTSW |
6 |
136,306,141 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9351:Eif4a3l1
|
UTSW |
6 |
136,306,771 (GRCm39) |
missense |
probably benign |
0.37 |
|
Z1176:Eif4a3l1
|
UTSW |
6 |
136,306,021 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGAAGGAGTTCCGGTCAGGTG -3'
(R):5'- CACGTGCATTAGAAAAGATGGC -3'
Sequencing Primer
(F):5'- TTCCGGTCAGGTGCCAGC -3'
(R):5'- CGGAGGCTGAGGGTCTTC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation