Incidental Mutation 'IGL03048:Eif4a3l1'
| ID |
391812 |
| Institutional Source |
Beutler Lab
|
| 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 # |
IGL03048 (G1)
|
| Quality Score |
178 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
136304537-136306981 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 136306198 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 220
(T220S)
|
| 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: T220S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133154
Gene: ENSMUSG00000094973
AA Change: T220S
| 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: T220S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144809
Gene: ENSMUSG00000094973
AA Change: T220S
| 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: T199S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000145166
Gene: ENSMUSG00000094973
AA Change: T199S
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
57 |
233 |
1.8e-41 |
SMART |
|
| Meta Mutation Damage Score |
0.9138 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts13 |
T |
C |
2: 26,868,711 (GRCm39) |
|
probably null |
Het |
| Anapc4 |
C |
T |
5: 52,997,075 (GRCm39) |
T116I |
probably benign |
Het |
| Arhgap45 |
C |
T |
10: 79,852,851 (GRCm39) |
R14C |
probably damaging |
Het |
| Bysl |
T |
C |
17: 47,913,560 (GRCm39) |
|
probably null |
Het |
| Ccdc166 |
T |
A |
15: 75,854,050 (GRCm39) |
N10I |
possibly damaging |
Het |
| Chd1l |
T |
C |
3: 97,505,079 (GRCm39) |
S163G |
probably benign |
Het |
| Col6a3 |
A |
G |
1: 90,737,970 (GRCm39) |
V576A |
possibly damaging |
Het |
| Cpped1 |
T |
C |
16: 11,646,339 (GRCm39) |
T162A |
probably benign |
Het |
| Dcbld1 |
A |
T |
10: 52,180,722 (GRCm39) |
I200F |
probably damaging |
Het |
| Dock6 |
T |
C |
9: 21,720,866 (GRCm39) |
E1713G |
probably damaging |
Het |
| Evx1 |
T |
C |
6: 52,292,739 (GRCm39) |
L130P |
probably benign |
Het |
| Fam168a |
A |
G |
7: 100,484,545 (GRCm39) |
T228A |
probably damaging |
Het |
| Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
| Firrm |
G |
A |
1: 163,792,094 (GRCm39) |
A608V |
probably benign |
Het |
| Foxp4 |
A |
T |
17: 48,191,765 (GRCm39) |
M124K |
unknown |
Het |
| Gabrr3 |
A |
G |
16: 59,250,493 (GRCm39) |
H164R |
probably benign |
Het |
| Gapdhrt |
T |
A |
14: 11,281,873 (GRCm38) |
I21F |
probably benign |
Het |
| Greb1 |
C |
T |
12: 16,783,332 (GRCm39) |
C134Y |
probably damaging |
Het |
| Hddc2 |
G |
A |
10: 31,192,332 (GRCm39) |
V79I |
possibly damaging |
Het |
| Lbr |
T |
C |
1: 181,666,109 (GRCm39) |
|
probably benign |
Het |
| Mamdc4 |
C |
T |
2: 25,459,084 (GRCm39) |
R229K |
possibly damaging |
Het |
| Mtor |
T |
C |
4: 148,630,847 (GRCm39) |
|
probably benign |
Het |
| Ncoa1 |
T |
C |
12: 4,317,922 (GRCm39) |
R1137G |
probably damaging |
Het |
| Nlrp4d |
T |
C |
7: 10,092,881 (GRCm39) |
|
noncoding transcript |
Het |
| Oasl1 |
T |
A |
5: 115,075,400 (GRCm39) |
S487T |
possibly damaging |
Het |
| Oprm1 |
T |
C |
10: 6,779,064 (GRCm39) |
I91T |
probably damaging |
Het |
| Or11j4 |
G |
T |
14: 50,630,245 (GRCm39) |
V11L |
possibly damaging |
Het |
| Or1e26 |
G |
C |
11: 73,479,831 (GRCm39) |
H244Q |
possibly damaging |
Het |
| Or8g33 |
A |
G |
9: 39,338,065 (GRCm39) |
F101L |
probably benign |
Het |
| Pdzk1ip1 |
T |
A |
4: 114,950,181 (GRCm39) |
D147E |
probably benign |
Het |
| Per1 |
A |
G |
11: 68,995,552 (GRCm39) |
K711E |
probably damaging |
Het |
| Rab3gap1 |
A |
G |
1: 127,865,214 (GRCm39) |
N734S |
probably damaging |
Het |
| Rapgefl1 |
T |
C |
11: 98,727,990 (GRCm39) |
L4P |
possibly damaging |
Het |
| Sgk2 |
A |
G |
2: 162,837,680 (GRCm39) |
Y101C |
probably damaging |
Het |
| Tmem129 |
A |
G |
5: 33,812,811 (GRCm39) |
V179A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,719,259 (GRCm39) |
|
probably benign |
Het |
| Ttyh2 |
T |
A |
11: 114,587,521 (GRCm39) |
M174K |
probably benign |
Het |
| Vmn2r13 |
G |
A |
5: 109,304,151 (GRCm39) |
A760V |
probably damaging |
Het |
| Vmn2r82 |
A |
T |
10: 79,232,460 (GRCm39) |
I820F |
probably damaging |
Het |
| Zswim4 |
T |
C |
8: 84,938,604 (GRCm39) |
M1093V |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATCCGGAAGCTGGACTAC -3'
(R):5'- CTCTTGGTGATGCAGAAGATGACG -3'
Sequencing Primer
(F):5'- TGGACTACGGGCAGCATGTG -3'
(R):5'- TGCAGAAGATGACGGCCTG -3'
|
| Posted On |
2016-06-07 |
Incidental Mutation