Incidental Mutation 'R5037:Eif4g2'
| ID |
389573 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eif4g2
|
| Ensembl Gene |
ENSMUSG00000005610 |
| Gene Name |
eukaryotic translation initiation factor 4, gamma 2 |
| Synonyms |
DAP-5, Nat1, E130105L11Rik, Natm1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5037 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
110667192-110682237 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 110676239 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 347
(N347K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124551
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159305]
[ENSMUST00000160132]
[ENSMUST00000160966]
[ENSMUST00000161051]
[ENSMUST00000162415]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158323
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159305
|
| SMART Domains |
Protein: ENSMUSP00000125098
Gene: ENSMUSG00000005610
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
25 |
N/A |
INTRINSIC |
|
Blast:MIF4G
|
32 |
83 |
4e-22 |
BLAST |
|
SCOP:d1hu3a_
|
67 |
102 |
9e-13 |
SMART |
|
PDB:4IUL|B
|
70 |
102 |
3e-15 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159465
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160132
|
| SMART Domains |
Protein: ENSMUSP00000124914
Gene: ENSMUSG00000005610
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
69 |
N/A |
INTRINSIC |
|
Pfam:MIF4G
|
78 |
152 |
1.3e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160552
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160966
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161051
AA Change: N347K
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000125375
Gene: ENSMUSG00000005610
AA Change: N347K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
69 |
N/A |
INTRINSIC |
|
MIF4G
|
78 |
308 |
2.08e-58 |
SMART |
|
MA3
|
505 |
618 |
4.76e-35 |
SMART |
|
low complexity region
|
634 |
646 |
N/A |
INTRINSIC |
|
low complexity region
|
682 |
704 |
N/A |
INTRINSIC |
|
low complexity region
|
760 |
771 |
N/A |
INTRINSIC |
|
eIF5C
|
775 |
861 |
5.43e-34 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161736
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162415
AA Change: N347K
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000124551
Gene: ENSMUSG00000005610
AA Change: N347K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
69 |
N/A |
INTRINSIC |
|
MIF4G
|
78 |
308 |
2.08e-58 |
SMART |
|
low complexity region
|
441 |
453 |
N/A |
INTRINSIC |
|
Blast:MIF4G
|
454 |
490 |
4e-14 |
BLAST |
|
MA3
|
543 |
656 |
4.76e-35 |
SMART |
|
low complexity region
|
672 |
684 |
N/A |
INTRINSIC |
|
low complexity region
|
720 |
742 |
N/A |
INTRINSIC |
|
low complexity region
|
798 |
809 |
N/A |
INTRINSIC |
|
eIF5C
|
813 |
899 |
5.43e-34 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161079
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161158
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161790
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161682
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162394
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163014
|
| SMART Domains |
Protein: ENSMUSP00000123811
Gene: ENSMUSG00000005610
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
36 |
N/A |
INTRINSIC |
|
Pfam:W2
|
52 |
122 |
2.2e-12 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: Translation initiation is mediated by specific recognition of the cap structure by eukaryotic translation initiation factor 4F (eIF4F), which is a cap binding protein complex that consists of three subunits: eIF4A, eIF4E and eIF4G. The protein encoded by this gene shares similarity with the C-terminal region of eIF4G, that contains the binding sites for eIF4A and eIF3; eIF4G in addition, contains a binding site for eIF4E at the N-terminus. Unlike eIF4G which supports cap-dependent and independent translation, this gene product functions as a general repressor of translation by forming translationally inactive complexes. Transgene expression of the apolipoprotein B mRNA-editing enzyme (APOBEC-1) causes extensive editing of this mRNA, which could contribute to the potent oncogenesis induced by overexpression of APOBEC-1. In vitro and in vivo studies in human indicate that translation of this mRNA initiates exclusively at a non-AUG (GUG) codon. This also appears to be true for mouse. Two alternatively spliced transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation fail to undergo gastrulation and die by E11.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Btaf1 |
T |
C |
19: 36,980,931 (GRCm39) |
V1584A |
probably damaging |
Het |
| Ccdc136 |
A |
T |
6: 29,417,122 (GRCm39) |
S648C |
probably damaging |
Het |
| Ccna2 |
A |
G |
3: 36,625,152 (GRCm39) |
|
probably benign |
Het |
| Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
| Cenpf |
T |
C |
1: 189,416,043 (GRCm39) |
E94G |
probably damaging |
Het |
| Clic1 |
G |
A |
17: 35,274,235 (GRCm39) |
V139I |
probably benign |
Het |
| Coasy |
A |
G |
11: 100,975,648 (GRCm39) |
E327G |
probably damaging |
Het |
| Col6a5 |
C |
T |
9: 105,805,337 (GRCm39) |
E1190K |
unknown |
Het |
| Cyp2c70 |
A |
G |
19: 40,172,441 (GRCm39) |
V67A |
possibly damaging |
Het |
| Dglucy |
A |
G |
12: 100,801,500 (GRCm39) |
S52G |
probably benign |
Het |
| Dync1h1 |
A |
G |
12: 110,607,341 (GRCm39) |
N2644S |
probably benign |
Het |
| Epha10 |
T |
C |
4: 124,809,178 (GRCm39) |
|
probably benign |
Het |
| Epm2aip1 |
T |
C |
9: 111,101,218 (GRCm39) |
F64L |
probably benign |
Het |
| Eri2 |
G |
A |
7: 119,384,897 (GRCm39) |
L535F |
probably benign |
Het |
| Garin5b |
T |
G |
7: 4,761,575 (GRCm39) |
K379T |
possibly damaging |
Het |
| Gm17430 |
T |
C |
18: 9,726,561 (GRCm39) |
E37G |
probably benign |
Het |
| Heatr5b |
T |
A |
17: 79,131,939 (GRCm39) |
Q388L |
probably benign |
Het |
| Htr1f |
A |
G |
16: 64,746,291 (GRCm39) |
W334R |
probably damaging |
Het |
| Icam4 |
A |
T |
9: 20,940,937 (GRCm39) |
C717* |
probably null |
Het |
| Iqgap1 |
A |
C |
7: 80,383,848 (GRCm39) |
L1072W |
probably damaging |
Het |
| Kbtbd11 |
G |
T |
8: 15,077,886 (GRCm39) |
A162S |
probably benign |
Het |
| Kif13b |
T |
G |
14: 64,996,038 (GRCm39) |
Y941* |
probably null |
Het |
| Kndc1 |
T |
C |
7: 139,490,371 (GRCm39) |
V291A |
possibly damaging |
Het |
| Lrrn3 |
A |
T |
12: 41,503,594 (GRCm39) |
I241N |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,349,312 (GRCm39) |
S2387P |
probably damaging |
Het |
| Msh5 |
A |
G |
17: 35,251,369 (GRCm39) |
L451S |
possibly damaging |
Het |
| Mthfd1 |
T |
G |
12: 76,340,914 (GRCm39) |
F258V |
probably damaging |
Het |
| Ncstn |
C |
T |
1: 171,896,193 (GRCm39) |
R495H |
probably damaging |
Het |
| Or4k2 |
T |
G |
14: 50,423,745 (GRCm39) |
T310P |
probably benign |
Het |
| Pkd1l3 |
T |
A |
8: 110,392,268 (GRCm39) |
I1954N |
probably damaging |
Het |
| Ppox |
C |
A |
1: 171,105,169 (GRCm39) |
V340L |
probably damaging |
Het |
| Prkag1 |
T |
C |
15: 98,713,768 (GRCm39) |
T21A |
possibly damaging |
Het |
| Pygo1 |
C |
A |
9: 72,852,199 (GRCm39) |
H129N |
probably damaging |
Het |
| Rad9a |
A |
T |
19: 4,247,173 (GRCm39) |
C271S |
probably benign |
Het |
| Raph1 |
T |
C |
1: 60,535,381 (GRCm39) |
|
probably null |
Het |
| Reln |
A |
G |
5: 22,153,510 (GRCm39) |
F2265L |
probably damaging |
Het |
| Shc4 |
A |
G |
2: 125,471,647 (GRCm39) |
I304T |
probably damaging |
Het |
| Slc35f3 |
T |
A |
8: 127,116,011 (GRCm39) |
L313M |
probably damaging |
Het |
| Spata31g1 |
T |
A |
4: 42,972,195 (GRCm39) |
H509Q |
probably benign |
Het |
| Spef1l |
A |
T |
7: 139,558,587 (GRCm39) |
S3R |
possibly damaging |
Het |
| Sycp2l |
T |
A |
13: 41,283,337 (GRCm39) |
M191K |
possibly damaging |
Het |
| Tmem132c |
C |
A |
5: 127,630,199 (GRCm39) |
Q579K |
probably benign |
Het |
| Trbj2-5 |
A |
G |
6: 41,520,394 (GRCm39) |
|
probably benign |
Het |
| Ttc38 |
A |
G |
15: 85,728,741 (GRCm39) |
E231G |
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,611,192 (GRCm39) |
V1375A |
probably benign |
Het |
| Vcan |
T |
A |
13: 89,852,096 (GRCm39) |
T955S |
probably damaging |
Het |
| Vmn1r89 |
T |
C |
7: 12,953,314 (GRCm39) |
C17R |
possibly damaging |
Het |
| Wnk1 |
A |
G |
6: 119,942,696 (GRCm39) |
|
probably benign |
Het |
| Zfp667 |
T |
G |
7: 6,308,949 (GRCm39) |
I539S |
possibly damaging |
Het |
| Zfp738 |
T |
A |
13: 67,818,320 (GRCm39) |
H557L |
probably damaging |
Het |
|
| Other mutations in Eif4g2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01302:Eif4g2
|
APN |
7 |
110,673,920 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01402:Eif4g2
|
APN |
7 |
110,676,234 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02502:Eif4g2
|
APN |
7 |
110,680,748 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02538:Eif4g2
|
APN |
7 |
110,678,523 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02717:Eif4g2
|
APN |
7 |
110,677,320 (GRCm39) |
missense |
probably benign |
0.45 |
|
R0547:Eif4g2
|
UTSW |
7 |
110,677,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0614:Eif4g2
|
UTSW |
7 |
110,676,430 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1351:Eif4g2
|
UTSW |
7 |
110,673,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1764:Eif4g2
|
UTSW |
7 |
110,673,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2009:Eif4g2
|
UTSW |
7 |
110,673,405 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2318:Eif4g2
|
UTSW |
7 |
110,673,065 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2382:Eif4g2
|
UTSW |
7 |
110,674,253 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2986:Eif4g2
|
UTSW |
7 |
110,677,690 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4012:Eif4g2
|
UTSW |
7 |
110,673,358 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4592:Eif4g2
|
UTSW |
7 |
110,677,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4785:Eif4g2
|
UTSW |
7 |
110,676,003 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5627:Eif4g2
|
UTSW |
7 |
110,673,446 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5988:Eif4g2
|
UTSW |
7 |
110,676,437 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6229:Eif4g2
|
UTSW |
7 |
110,676,920 (GRCm39) |
splice site |
probably null |
|
|
R8122:Eif4g2
|
UTSW |
7 |
110,677,760 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8218:Eif4g2
|
UTSW |
7 |
110,673,639 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8711:Eif4g2
|
UTSW |
7 |
110,673,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8726:Eif4g2
|
UTSW |
7 |
110,676,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9156:Eif4g2
|
UTSW |
7 |
110,672,969 (GRCm39) |
missense |
|
|
|
R9216:Eif4g2
|
UTSW |
7 |
110,673,415 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9277:Eif4g2
|
UTSW |
7 |
110,674,066 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9334:Eif4g2
|
UTSW |
7 |
110,674,031 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGACCAGTACCAATTCCAC -3'
(R):5'- TCAATCAAATCCGTCAAGATGC -3'
Sequencing Primer
(F):5'- ACCAATTCCACTACCTTAAAATACAG -3'
(R):5'- AAGGGATTTTTGATTTCCTGCCC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation