Incidental Mutation 'IGL00970:Eif4a3l1'
ID |
27697 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Eif4a3l1
|
Ensembl Gene |
ENSMUSG00000094973 |
Gene Name |
eukaryotic translation initiation factor 4A3 like 1 |
Synonyms |
B020013A22Rik, Gm8994 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.914)
|
Stock # |
IGL00970
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
136304537-136306981 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 136306109 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 169
(D169G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145166
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077886]
[ENSMUST00000204530]
[ENSMUST00000204966]
|
AlphaFold |
E9PV04 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000077886
AA Change: D190G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000133154 Gene: ENSMUSG00000094973 AA Change: D190G
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: D190G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000144809 Gene: ENSMUSG00000094973 AA Change: D190G
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: ENSMUST00000204966
AA Change: D169G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000145166 Gene: ENSMUSG00000094973 AA Change: D169G
Domain | Start | End | E-Value | Type |
DEXDc
|
57 |
233 |
1.8e-41 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts19 |
T |
A |
18: 59,144,149 (GRCm39) |
N910K |
possibly damaging |
Het |
Atp8b5 |
A |
G |
4: 43,311,938 (GRCm39) |
T184A |
probably benign |
Het |
Cabp7 |
T |
C |
11: 4,688,931 (GRCm39) |
I180V |
probably benign |
Het |
Casp8ap2 |
A |
G |
4: 32,646,182 (GRCm39) |
T1752A |
probably benign |
Het |
Dgkb |
T |
C |
12: 38,240,082 (GRCm39) |
L453P |
probably damaging |
Het |
Disp2 |
A |
C |
2: 118,622,274 (GRCm39) |
D1002A |
probably damaging |
Het |
Eif3c |
G |
A |
7: 126,158,180 (GRCm39) |
P259S |
probably benign |
Het |
Fam227b |
A |
T |
2: 125,968,980 (GRCm39) |
D31E |
probably benign |
Het |
Farp2 |
T |
C |
1: 93,488,049 (GRCm39) |
V92A |
probably benign |
Het |
Fhod1 |
C |
A |
8: 106,058,734 (GRCm39) |
V745L |
possibly damaging |
Het |
Gprin3 |
T |
C |
6: 59,330,822 (GRCm39) |
E495G |
possibly damaging |
Het |
Grm5 |
T |
C |
7: 87,453,104 (GRCm39) |
I247T |
probably damaging |
Het |
Herc2 |
T |
C |
7: 55,830,812 (GRCm39) |
|
probably benign |
Het |
Hoatz |
T |
A |
9: 50,994,886 (GRCm39) |
K148* |
probably null |
Het |
Hspg2 |
C |
A |
4: 137,269,901 (GRCm39) |
Q2311K |
probably benign |
Het |
Krt26 |
T |
C |
11: 99,222,107 (GRCm39) |
Y400C |
probably benign |
Het |
Lct |
A |
T |
1: 128,231,805 (GRCm39) |
D681E |
probably damaging |
Het |
Lgalsl |
G |
T |
11: 20,776,493 (GRCm39) |
P133Q |
probably benign |
Het |
Man2b2 |
C |
T |
5: 36,973,487 (GRCm39) |
W76* |
probably null |
Het |
Mylk4 |
T |
C |
13: 32,899,905 (GRCm39) |
E326G |
probably damaging |
Het |
Odam |
T |
G |
5: 88,034,467 (GRCm39) |
|
probably benign |
Het |
Pabpc4 |
T |
C |
4: 123,180,608 (GRCm39) |
I110T |
probably damaging |
Het |
Pcdh15 |
A |
T |
10: 74,215,172 (GRCm39) |
D47V |
probably damaging |
Het |
Plekhg4 |
C |
T |
8: 106,105,067 (GRCm39) |
R577C |
probably benign |
Het |
Pnpo |
C |
A |
11: 96,834,618 (GRCm39) |
C26F |
possibly damaging |
Het |
Polg |
T |
C |
7: 79,101,493 (GRCm39) |
I1071M |
probably benign |
Het |
Prr23a2 |
A |
G |
9: 98,739,014 (GRCm39) |
D124G |
probably benign |
Het |
Rexo1 |
C |
T |
10: 80,386,798 (GRCm39) |
V87I |
probably damaging |
Het |
Robo2 |
C |
A |
16: 73,693,934 (GRCm39) |
V1502L |
probably benign |
Het |
Ruvbl2 |
A |
G |
7: 45,078,994 (GRCm39) |
L50P |
possibly damaging |
Het |
Ryr3 |
T |
C |
2: 112,595,021 (GRCm39) |
K2534E |
probably damaging |
Het |
Scfd2 |
T |
C |
5: 74,691,595 (GRCm39) |
H229R |
possibly damaging |
Het |
Sesn3 |
A |
G |
9: 14,232,438 (GRCm39) |
D237G |
probably damaging |
Het |
Shank1 |
T |
C |
7: 44,003,662 (GRCm39) |
S1785P |
possibly damaging |
Het |
Slc11a1 |
A |
G |
1: 74,419,821 (GRCm39) |
T165A |
probably damaging |
Het |
Star |
G |
A |
8: 26,302,894 (GRCm39) |
|
probably null |
Het |
Trpc6 |
A |
T |
9: 8,653,152 (GRCm39) |
N575Y |
probably damaging |
Het |
Unc5d |
T |
C |
8: 29,186,456 (GRCm39) |
T598A |
probably benign |
Het |
Vmn1r200 |
A |
T |
13: 22,579,893 (GRCm39) |
Q232L |
probably damaging |
Het |
Wdr31 |
T |
C |
4: 62,375,757 (GRCm39) |
T233A |
probably damaging |
Het |
Zzef1 |
G |
A |
11: 72,806,071 (GRCm39) |
R2669Q |
probably benign |
Het |
|
Other mutations in Eif4a3l1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R5349:Eif4a3l1
|
UTSW |
6 |
136,306,694 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Posted On |
2013-04-17 |