Incidental Mutation 'R1602:Eif4a3l1'
ID |
176202 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eif4a3l1
|
Ensembl Gene |
ENSMUSG00000094973 |
Gene Name |
eukaryotic translation initiation factor 4A3 like 1 |
Synonyms |
B020013A22Rik, Gm8994 |
MMRRC Submission |
039639-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.914)
|
Stock # |
R1602 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
136304537-136306981 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 136305778 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 80
(A80T)
|
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: A80T
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000133154 Gene: ENSMUSG00000094973 AA Change: A80T
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: A80T
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000144809 Gene: ENSMUSG00000094973 AA Change: A80T
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: A80T
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000145166 Gene: ENSMUSG00000094973 AA Change: A80T
Domain | Start | End | E-Value | Type |
DEXDc
|
57 |
233 |
1.8e-41 |
SMART |
|
Meta Mutation Damage Score |
0.3848 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.4%
- 20x: 89.4%
|
Validation Efficiency |
91% (49/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd12 |
A |
T |
17: 66,290,683 (GRCm39) |
Y1583* |
probably null |
Het |
Ankrd34c |
T |
C |
9: 89,611,058 (GRCm39) |
T428A |
possibly damaging |
Het |
Arfgef1 |
G |
C |
1: 10,275,115 (GRCm39) |
I312M |
probably benign |
Het |
Atr |
T |
C |
9: 95,833,610 (GRCm39) |
L2620P |
probably damaging |
Het |
Ccdc110 |
A |
G |
8: 46,391,955 (GRCm39) |
Y54C |
probably benign |
Het |
Cecr2 |
T |
C |
6: 120,732,548 (GRCm39) |
V480A |
possibly damaging |
Het |
Chfr |
A |
G |
5: 110,299,531 (GRCm39) |
D308G |
probably benign |
Het |
Cit |
T |
A |
5: 116,135,789 (GRCm39) |
I1919N |
probably damaging |
Het |
Ctsc |
T |
A |
7: 87,927,512 (GRCm39) |
D34E |
possibly damaging |
Het |
Diaph3 |
T |
A |
14: 87,328,594 (GRCm39) |
|
probably benign |
Het |
Dnah6 |
T |
A |
6: 73,044,452 (GRCm39) |
I3220F |
probably damaging |
Het |
Eif1ad16 |
C |
A |
12: 87,985,134 (GRCm39) |
E136D |
probably benign |
Het |
Elmod3 |
A |
G |
6: 72,546,242 (GRCm39) |
|
probably null |
Het |
Fgd5 |
T |
C |
6: 92,043,165 (GRCm39) |
V1215A |
possibly damaging |
Het |
Filip1 |
T |
C |
9: 79,727,873 (GRCm39) |
M249V |
probably damaging |
Het |
Fmn1 |
C |
T |
2: 113,355,968 (GRCm39) |
P803L |
unknown |
Het |
Gcfc2 |
A |
G |
6: 81,921,401 (GRCm39) |
K469R |
probably damaging |
Het |
Itgad |
A |
G |
7: 127,790,111 (GRCm39) |
T637A |
probably damaging |
Het |
Kank2 |
T |
C |
9: 21,681,133 (GRCm39) |
S799G |
probably damaging |
Het |
Kcnc4 |
A |
T |
3: 107,355,520 (GRCm39) |
D309E |
possibly damaging |
Het |
Lamc2 |
G |
A |
1: 153,002,774 (GRCm39) |
T1069M |
probably benign |
Het |
Lepr |
T |
A |
4: 101,602,842 (GRCm39) |
M210K |
possibly damaging |
Het |
Lig3 |
T |
C |
11: 82,683,020 (GRCm39) |
|
probably null |
Het |
Oat |
G |
T |
7: 132,171,736 (GRCm39) |
T33K |
probably benign |
Het |
Or2ad1 |
T |
C |
13: 21,326,820 (GRCm39) |
M136V |
probably damaging |
Het |
Or4b1d |
A |
G |
2: 89,969,399 (GRCm39) |
F28S |
probably damaging |
Het |
Or7c70 |
T |
A |
10: 78,682,802 (GRCm39) |
M316L |
probably benign |
Het |
Pcnx3 |
G |
T |
19: 5,722,543 (GRCm39) |
A1383E |
probably damaging |
Het |
Pctp |
T |
C |
11: 89,879,561 (GRCm39) |
Y100C |
probably damaging |
Het |
Pex6 |
G |
T |
17: 47,023,063 (GRCm39) |
R213L |
probably benign |
Het |
Phlpp2 |
T |
C |
8: 110,660,655 (GRCm39) |
L770S |
possibly damaging |
Het |
Pkn2 |
A |
T |
3: 142,559,299 (GRCm39) |
D75E |
possibly damaging |
Het |
Pla2g12b |
T |
C |
10: 59,257,375 (GRCm39) |
|
probably null |
Het |
Plch2 |
C |
T |
4: 155,068,907 (GRCm39) |
V1135I |
probably damaging |
Het |
Pskh1 |
T |
A |
8: 106,639,453 (GRCm39) |
S44R |
probably benign |
Het |
Ptpra |
G |
T |
2: 30,327,602 (GRCm39) |
A119S |
probably benign |
Het |
Shld2 |
A |
G |
14: 33,989,607 (GRCm39) |
I433T |
probably damaging |
Het |
Slfn3 |
A |
G |
11: 83,103,541 (GRCm39) |
I137M |
probably damaging |
Het |
St6galnac1 |
A |
T |
11: 116,660,113 (GRCm39) |
S67T |
probably benign |
Het |
Timd5 |
T |
C |
11: 46,426,415 (GRCm39) |
I174T |
probably benign |
Het |
Treml1 |
A |
G |
17: 48,671,917 (GRCm39) |
E137G |
probably damaging |
Het |
Ubr2 |
A |
C |
17: 47,251,987 (GRCm39) |
C1518G |
probably benign |
Het |
Vmn2r55 |
A |
T |
7: 12,386,571 (GRCm39) |
C470S |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCTCAAAGAGGACGGCATGAC -3'
(R):5'- CTCCGGCGGATCATATCAAAGACG -3'
Sequencing Primer
(F):5'- CCAAAGTGGAGTTCGAGACC -3'
(R):5'- CACATGCTGCCCGTAGTC -3'
|
Posted On |
2014-04-24 |