Incidental Mutation 'R5494:Eif4a3l1'
ID |
432234 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eif4a3l1
|
Ensembl Gene |
ENSMUSG00000094973 |
Gene Name |
eukaryotic translation initiation factor 4A3 like 1 |
Synonyms |
B020013A22Rik, Gm8994 |
MMRRC Submission |
043055-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.914)
|
Stock # |
R5494 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
136304537-136306981 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 136306555 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 339
(R339G)
|
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: R339G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000133154 Gene: ENSMUSG00000094973 AA Change: R339G
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: R339G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000144809 Gene: ENSMUSG00000094973 AA Change: R339G
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 |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.4%
- 10x: 95.3%
- 20x: 91.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ak9 |
A |
G |
10: 41,223,165 (GRCm39) |
E436G |
probably damaging |
Het |
Aldh18a1 |
C |
T |
19: 40,539,734 (GRCm39) |
R747Q |
probably damaging |
Het |
Apob |
A |
G |
12: 8,061,762 (GRCm39) |
N3415D |
probably damaging |
Het |
Asb18 |
T |
C |
1: 89,882,121 (GRCm39) |
E139G |
probably damaging |
Het |
Atrn |
T |
C |
2: 130,864,995 (GRCm39) |
L1374P |
probably damaging |
Het |
Ccdc81 |
A |
G |
7: 89,526,781 (GRCm39) |
S410P |
probably damaging |
Het |
Cep112 |
A |
G |
11: 108,555,431 (GRCm39) |
E809G |
probably damaging |
Het |
Dctn1 |
G |
T |
6: 83,159,546 (GRCm39) |
R8L |
possibly damaging |
Het |
Ddn |
C |
A |
15: 98,704,884 (GRCm39) |
R82L |
probably damaging |
Het |
Dgkz |
A |
T |
2: 91,771,394 (GRCm39) |
|
probably null |
Het |
Frem1 |
T |
C |
4: 82,858,990 (GRCm39) |
*415W |
probably null |
Het |
Fry |
A |
T |
5: 150,314,132 (GRCm39) |
D789V |
probably damaging |
Het |
Fzr1 |
C |
T |
10: 81,207,178 (GRCm39) |
|
probably null |
Het |
Gemin5 |
T |
A |
11: 58,021,526 (GRCm39) |
Y1025F |
probably damaging |
Het |
Gjb5 |
C |
T |
4: 127,249,347 (GRCm39) |
V266M |
probably damaging |
Het |
Gli3 |
A |
T |
13: 15,900,567 (GRCm39) |
Q1318L |
probably benign |
Het |
Golgb1 |
T |
A |
16: 36,749,045 (GRCm39) |
N3056K |
possibly damaging |
Het |
Gucy1b1 |
T |
A |
3: 81,947,183 (GRCm39) |
D342V |
probably damaging |
Het |
H1f9 |
T |
C |
11: 94,858,843 (GRCm39) |
L46S |
probably benign |
Het |
Hc |
A |
T |
2: 34,893,551 (GRCm39) |
|
probably null |
Het |
Heg1 |
A |
G |
16: 33,545,804 (GRCm39) |
D185G |
probably benign |
Het |
Igf2r |
A |
T |
17: 12,912,032 (GRCm39) |
M1865K |
possibly damaging |
Het |
Il27 |
A |
G |
7: 126,192,100 (GRCm39) |
L12P |
probably damaging |
Het |
Krt1 |
C |
T |
15: 101,759,149 (GRCm39) |
C5Y |
unknown |
Het |
Med25 |
C |
T |
7: 44,535,225 (GRCm39) |
V170M |
probably damaging |
Het |
Mgat4a |
T |
A |
1: 37,493,898 (GRCm39) |
Y316F |
probably damaging |
Het |
Oas3 |
A |
G |
5: 120,899,709 (GRCm39) |
V725A |
unknown |
Het |
Or52ac1 |
C |
A |
7: 104,245,932 (GRCm39) |
G152V |
probably damaging |
Het |
Or5w16 |
T |
C |
2: 87,576,950 (GRCm39) |
S137P |
probably damaging |
Het |
Pcdhb17 |
T |
C |
18: 37,620,300 (GRCm39) |
S697P |
probably damaging |
Het |
Plch2 |
T |
C |
4: 155,075,579 (GRCm39) |
Y751C |
probably damaging |
Het |
Rbms2 |
G |
T |
10: 127,973,560 (GRCm39) |
T252N |
probably damaging |
Het |
Rbpjl |
GCC |
GC |
2: 164,256,330 (GRCm39) |
|
probably null |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Scfd1 |
A |
G |
12: 51,443,522 (GRCm39) |
|
probably null |
Het |
Shank3 |
C |
T |
15: 89,432,441 (GRCm39) |
T1062M |
probably damaging |
Het |
Slc28a1 |
G |
A |
7: 80,817,787 (GRCm39) |
G552E |
probably damaging |
Het |
Sntn |
A |
G |
14: 13,682,214 (GRCm38) |
R96G |
probably benign |
Het |
Tas2r102 |
T |
C |
6: 132,740,106 (GRCm39) |
V338A |
probably benign |
Het |
Trim62 |
A |
T |
4: 128,778,999 (GRCm39) |
N145Y |
possibly damaging |
Het |
Tspoap1 |
C |
T |
11: 87,666,031 (GRCm39) |
T863I |
possibly damaging |
Het |
Ubr5 |
C |
T |
15: 38,019,525 (GRCm39) |
C739Y |
possibly damaging |
Het |
Vps13c |
G |
A |
9: 67,855,428 (GRCm39) |
V2498I |
probably benign |
Het |
Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
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 |
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 |
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'- TCATCTTCTGCATCACCAAGAGG -3'
(R):5'- CAGCTTCAGATGAGGTCAGC -3'
Sequencing Primer
(F):5'- TCTGCATCACCAAGAGGAAGGTTG -3'
(R):5'- CTTCAGATGAGGTCAGCCAGGTTC -3'
|
Posted On |
2016-10-05 |