Incidental Mutation 'R8363:Eif4a3l1'
| ID |
646052 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eif4a3l1
|
| Ensembl Gene |
ENSMUSG00000094973 |
| Gene Name |
eukaryotic translation initiation factor 4A3 like 1 |
| Synonyms |
B020013A22Rik, Gm8994 |
| MMRRC Submission |
067654-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.922)
|
| Stock # |
R8363 (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 G
at 136306453 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 305
(S305A)
|
| 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: S305A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000133154
Gene: ENSMUSG00000094973
AA Change: S305A
| 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: S305A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000144809
Gene: ENSMUSG00000094973
AA Change: S305A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
A |
9: 124,055,800 (GRCm39) |
I375L |
|
Het |
| Adamts18 |
C |
T |
8: 114,493,795 (GRCm39) |
G448D |
probably damaging |
Het |
| Bzw2 |
A |
G |
12: 36,180,122 (GRCm39) |
V35A |
probably benign |
Het |
| C2cd4d |
C |
T |
3: 94,271,157 (GRCm39) |
T141M |
probably benign |
Het |
| Chchd4 |
T |
A |
6: 91,444,737 (GRCm39) |
K17* |
probably null |
Het |
| Cmas |
C |
T |
6: 142,702,554 (GRCm39) |
P19L |
probably benign |
Het |
| Colec10 |
A |
G |
15: 54,274,238 (GRCm39) |
H22R |
probably benign |
Het |
| D630045J12Rik |
T |
C |
6: 38,125,376 (GRCm39) |
D1546G |
probably damaging |
Het |
| Dgki |
A |
T |
6: 36,993,613 (GRCm39) |
C583S |
probably damaging |
Het |
| Dhrs13 |
G |
T |
11: 77,925,343 (GRCm39) |
V205L |
probably damaging |
Het |
| Eppk1 |
C |
T |
15: 75,994,319 (GRCm39) |
R854Q |
probably benign |
Het |
| Erc1 |
T |
C |
6: 119,730,260 (GRCm39) |
D612G |
probably benign |
Het |
| Fam163b |
G |
A |
2: 27,002,650 (GRCm39) |
R116C |
probably benign |
Het |
| Gm5160 |
T |
C |
18: 14,557,929 (GRCm39) |
V2A |
possibly damaging |
Het |
| Gm8247 |
A |
T |
14: 44,823,919 (GRCm39) |
I202F |
|
Het |
| Gnpat |
T |
C |
8: 125,590,038 (GRCm39) |
V21A |
probably benign |
Het |
| Igfn1 |
A |
T |
1: 135,891,625 (GRCm39) |
S2297T |
probably benign |
Het |
| Igkv13-85 |
A |
G |
6: 68,907,269 (GRCm39) |
Y111H |
probably damaging |
Het |
| Il17rd |
A |
G |
14: 26,813,906 (GRCm39) |
N206D |
probably damaging |
Het |
| Il1r2 |
G |
A |
1: 40,160,095 (GRCm39) |
V272M |
probably damaging |
Het |
| Ivl |
T |
A |
3: 92,479,525 (GRCm39) |
H180L |
possibly damaging |
Het |
| Kcnq5 |
G |
A |
1: 21,549,648 (GRCm39) |
R360C |
probably damaging |
Het |
| Kirrel2 |
A |
G |
7: 30,152,968 (GRCm39) |
V350A |
probably damaging |
Het |
| Mcpt4 |
A |
G |
14: 56,299,692 (GRCm39) |
S14P |
probably damaging |
Het |
| Mdm2 |
A |
G |
10: 117,526,239 (GRCm39) |
V449A |
probably damaging |
Het |
| Mga |
T |
C |
2: 119,794,407 (GRCm39) |
V2697A |
probably benign |
Het |
| Mlxipl |
T |
C |
5: 135,135,930 (GRCm39) |
F52L |
probably benign |
Het |
| Mtarc2 |
A |
G |
1: 184,566,055 (GRCm39) |
|
probably null |
Het |
| Ndst3 |
T |
C |
3: 123,350,517 (GRCm39) |
S623G |
possibly damaging |
Het |
| Oas1a |
C |
T |
5: 121,043,902 (GRCm39) |
A77T |
probably damaging |
Het |
| Or4d1 |
A |
T |
11: 87,805,069 (GRCm39) |
I221N |
probably damaging |
Het |
| Or9a2 |
T |
C |
6: 41,748,684 (GRCm39) |
Q183R |
probably benign |
Het |
| P3h2 |
A |
G |
16: 25,811,468 (GRCm39) |
F252L |
probably damaging |
Het |
| Psme4 |
A |
G |
11: 30,762,139 (GRCm39) |
D493G |
probably damaging |
Het |
| Rab3ip |
A |
C |
10: 116,754,869 (GRCm39) |
I229S |
probably damaging |
Het |
| Ralgapb |
T |
C |
2: 158,268,119 (GRCm39) |
L74P |
probably damaging |
Het |
| Scn1a |
G |
T |
2: 66,152,601 (GRCm39) |
N804K |
probably damaging |
Het |
| Slc22a6 |
A |
T |
19: 8,596,386 (GRCm39) |
H124L |
probably benign |
Het |
| Slc6a6 |
A |
G |
6: 91,727,277 (GRCm39) |
I492V |
probably benign |
Het |
| Snx2 |
G |
T |
18: 53,330,936 (GRCm39) |
E134* |
probably null |
Het |
| Stt3b |
A |
G |
9: 115,083,988 (GRCm39) |
I396T |
probably damaging |
Het |
| Tcp11 |
A |
G |
17: 28,288,221 (GRCm39) |
S415P |
possibly damaging |
Het |
| Vmn2r67 |
A |
T |
7: 84,804,969 (GRCm39) |
S48T |
probably benign |
Het |
| Vps16 |
T |
A |
2: 130,284,161 (GRCm39) |
F665L |
probably benign |
Het |
| Wdhd1 |
A |
T |
14: 47,513,989 (GRCm39) |
D22E |
probably damaging |
Het |
| Zng1 |
A |
T |
19: 24,920,091 (GRCm39) |
H175Q |
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 |
|
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 |
|
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'- GACTCTGGAAGGCATCAAACAG -3'
(R):5'- AATTGATGGCCACACCTTTTCG -3'
Sequencing Primer
(F):5'- AGGCATCAAACAGTTCTTTGTGGC -3'
(R):5'- CCCAATTCTGTGAATGTACAGTTC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation