Incidental Mutation 'R5998:Eif4a3l1'
ID |
480672 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eif4a3l1
|
Ensembl Gene |
ENSMUSG00000094973 |
Gene Name |
eukaryotic translation initiation factor 4A3 like 1 |
Synonyms |
B020013A22Rik, Gm8994 |
MMRRC Submission |
044177-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.914)
|
Stock # |
R5998 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
136304537-136306981 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 136305622 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 28
(F28L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144809
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077886]
[ENSMUST00000204530]
[ENSMUST00000204966]
|
AlphaFold |
E9PV04 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000077886
AA Change: F28L
PolyPhen 2
Score 0.230 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000133154 Gene: ENSMUSG00000094973 AA Change: F28L
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: ENSMUST00000204530
AA Change: F28L
PolyPhen 2
Score 0.230 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000144809 Gene: ENSMUSG00000094973 AA Change: F28L
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
AA Change: F28L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000145166 Gene: ENSMUSG00000094973 AA Change: F28L
Domain | Start | End | E-Value | Type |
DEXDc
|
57 |
233 |
1.8e-41 |
SMART |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
G |
A |
11: 9,517,708 (GRCm39) |
V4437I |
probably damaging |
Het |
Acot12 |
T |
C |
13: 91,905,653 (GRCm39) |
I71T |
possibly damaging |
Het |
Adcy10 |
A |
G |
1: 165,369,218 (GRCm39) |
I630V |
probably benign |
Het |
Adcy3 |
T |
A |
12: 4,248,348 (GRCm39) |
V470E |
probably damaging |
Het |
Adcy6 |
C |
A |
15: 98,492,235 (GRCm39) |
E1008* |
probably null |
Het |
Adgrb3 |
A |
T |
1: 25,470,582 (GRCm39) |
|
probably null |
Het |
Ahrr |
T |
A |
13: 74,361,955 (GRCm39) |
S515C |
probably damaging |
Het |
Ankrd52 |
T |
C |
10: 128,218,992 (GRCm39) |
I416T |
probably damaging |
Het |
Arhgap45 |
T |
C |
10: 79,866,784 (GRCm39) |
S1096P |
probably damaging |
Het |
Atp8b4 |
A |
G |
2: 126,275,787 (GRCm39) |
|
probably null |
Het |
Bcl6b |
A |
C |
11: 70,119,009 (GRCm39) |
I200M |
probably damaging |
Het |
Btbd19 |
T |
A |
4: 116,978,196 (GRCm39) |
E234V |
probably benign |
Het |
Csmd1 |
G |
A |
8: 15,960,443 (GRCm39) |
T3324I |
probably damaging |
Het |
Cyp2a5 |
G |
A |
7: 26,536,578 (GRCm39) |
V186I |
probably benign |
Het |
Glb1l2 |
G |
A |
9: 26,677,299 (GRCm39) |
T533I |
possibly damaging |
Het |
Helz |
G |
T |
11: 107,576,360 (GRCm39) |
E1851* |
probably null |
Het |
Igkv15-103 |
T |
A |
6: 68,414,489 (GRCm39) |
F13Y |
unknown |
Het |
Kcnq2 |
T |
C |
2: 180,728,801 (GRCm39) |
H548R |
probably damaging |
Het |
Mcm3ap |
T |
C |
10: 76,316,976 (GRCm39) |
|
probably null |
Het |
Micall2 |
T |
C |
5: 139,692,666 (GRCm39) |
|
probably null |
Het |
Mill2 |
A |
G |
7: 18,573,989 (GRCm39) |
R25G |
probably benign |
Het |
Mtcl1 |
G |
A |
17: 66,675,275 (GRCm39) |
H1041Y |
probably damaging |
Het |
Or5k16 |
T |
C |
16: 58,736,993 (GRCm39) |
T4A |
probably benign |
Het |
Or8d2b |
G |
A |
9: 38,789,165 (GRCm39) |
R231H |
probably damaging |
Het |
Pigt |
A |
G |
2: 164,349,374 (GRCm39) |
E559G |
possibly damaging |
Het |
Pkdrej |
A |
G |
15: 85,699,654 (GRCm39) |
V2094A |
probably benign |
Het |
Prkdc |
T |
A |
16: 15,601,021 (GRCm39) |
L2894Q |
probably damaging |
Het |
Saxo4 |
A |
T |
19: 10,458,716 (GRCm39) |
W105R |
possibly damaging |
Het |
Speer4a2 |
T |
C |
5: 26,289,704 (GRCm39) |
D241G |
probably damaging |
Het |
Tmem63b |
A |
G |
17: 45,980,926 (GRCm39) |
V256A |
possibly damaging |
Het |
Zfp516 |
T |
C |
18: 82,974,639 (GRCm39) |
L279P |
probably damaging |
Het |
Zfp780b |
T |
A |
7: 27,664,047 (GRCm39) |
K169N |
probably benign |
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 |
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 |
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'- CCAGTGTATGGGAATGCTAGG -3'
(R):5'- CAGACTGAGACTGTGCGATGAC -3'
Sequencing Primer
(F):5'- GGGGAGCAGCCTCATAGAAG -3'
(R):5'- AGACTGTGCGATGACATCTC -3'
|
Posted On |
2017-06-26 |