Incidental Mutation 'R4592:Eif4g2'
| ID |
342903 |
| 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 |
| MMRRC Submission |
041808-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4592 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
110667192-110682237 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 110677509 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 174
(E174G)
|
| 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 damaging
Transcript: ENSMUST00000161051
AA Change: E174G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125375
Gene: ENSMUSG00000005610
AA Change: E174G
| 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: ENSMUST00000161682
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162415
AA Change: E174G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124551
Gene: ENSMUSG00000005610
AA Change: E174G
| 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: ENSMUST00000161790
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162394
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209597
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161736
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161158
|
| 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 |
|
| Meta Mutation Damage Score |
0.6023 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (64/65) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933430I17Rik |
T |
A |
4: 62,457,164 (GRCm39) |
V161E |
possibly damaging |
Het |
| Arhgap40 |
T |
C |
2: 158,388,629 (GRCm39) |
V521A |
possibly damaging |
Het |
| Atrn |
T |
C |
2: 130,841,050 (GRCm39) |
|
probably benign |
Het |
| Casp12 |
T |
C |
9: 5,352,923 (GRCm39) |
|
probably benign |
Het |
| Cenpf |
G |
A |
1: 189,411,230 (GRCm39) |
T318M |
probably damaging |
Het |
| Cfap119 |
C |
T |
7: 127,184,663 (GRCm39) |
R172H |
probably benign |
Het |
| Clcn2 |
T |
C |
16: 20,527,892 (GRCm39) |
K525E |
probably damaging |
Het |
| Cntln |
A |
G |
4: 84,889,419 (GRCm39) |
T301A |
probably benign |
Het |
| Crat |
T |
C |
2: 30,305,378 (GRCm39) |
|
probably benign |
Het |
| Cul5 |
A |
G |
9: 53,545,027 (GRCm39) |
|
probably benign |
Het |
| Cxcl14 |
A |
T |
13: 56,443,708 (GRCm39) |
I34N |
probably damaging |
Het |
| Cyp2b19 |
A |
G |
7: 26,470,819 (GRCm39) |
I487V |
probably benign |
Het |
| Cyp4a10 |
T |
A |
4: 115,386,690 (GRCm39) |
F446I |
probably damaging |
Het |
| D430041D05Rik |
T |
A |
2: 104,063,824 (GRCm39) |
M659L |
possibly damaging |
Het |
| Dclk3 |
T |
C |
9: 111,296,963 (GRCm39) |
F169S |
probably damaging |
Het |
| Ddx52 |
T |
C |
11: 83,848,306 (GRCm39) |
I532T |
probably damaging |
Het |
| Dnm1 |
T |
C |
2: 32,226,023 (GRCm39) |
D352G |
probably damaging |
Het |
| Enpp6 |
G |
T |
8: 47,546,067 (GRCm39) |
V386L |
probably damaging |
Het |
| Entr1 |
C |
A |
2: 26,278,909 (GRCm39) |
|
probably benign |
Het |
| Eps15l1 |
T |
C |
8: 73,095,238 (GRCm39) |
D904G |
probably damaging |
Het |
| Esrrb |
A |
G |
12: 86,565,604 (GRCm39) |
Y356C |
probably damaging |
Het |
| Flt3 |
A |
T |
5: 147,291,509 (GRCm39) |
S619T |
possibly damaging |
Het |
| Fndc7 |
A |
T |
3: 108,766,218 (GRCm39) |
C716S |
probably damaging |
Het |
| Gm26996 |
T |
A |
6: 130,556,448 (GRCm39) |
|
noncoding transcript |
Het |
| Grik2 |
A |
T |
10: 49,298,711 (GRCm39) |
F50I |
possibly damaging |
Het |
| Guf1 |
T |
C |
5: 69,723,786 (GRCm39) |
V367A |
possibly damaging |
Het |
| Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
| Ifnar2 |
T |
C |
16: 91,188,684 (GRCm39) |
V55A |
probably benign |
Het |
| Impg1 |
T |
A |
9: 80,322,907 (GRCm39) |
I33F |
probably benign |
Het |
| Ltbp4 |
A |
C |
7: 27,024,608 (GRCm39) |
V674G |
probably damaging |
Het |
| Mroh2b |
T |
A |
15: 4,947,772 (GRCm39) |
L529H |
probably damaging |
Het |
| Negr1 |
T |
C |
3: 156,914,023 (GRCm39) |
|
probably benign |
Het |
| Neurog3 |
A |
G |
10: 61,969,599 (GRCm39) |
T25A |
probably damaging |
Het |
| Or10v1 |
T |
C |
19: 11,874,126 (GRCm39) |
V247A |
probably benign |
Het |
| Or4a69 |
T |
A |
2: 89,313,100 (GRCm39) |
K126N |
probably damaging |
Het |
| Or51h1 |
A |
C |
7: 102,308,685 (GRCm39) |
Y219S |
probably damaging |
Het |
| Or5k17 |
T |
C |
16: 58,746,455 (GRCm39) |
T160A |
probably benign |
Het |
| Pax8 |
T |
A |
2: 24,333,201 (GRCm39) |
|
probably benign |
Het |
| Pcsk6 |
A |
C |
7: 65,581,480 (GRCm39) |
I254L |
possibly damaging |
Het |
| Pde3a |
A |
G |
6: 141,404,942 (GRCm39) |
K389R |
probably benign |
Het |
| Rab3gap1 |
C |
A |
1: 127,852,996 (GRCm39) |
|
probably benign |
Het |
| Rbck1 |
G |
A |
2: 152,160,653 (GRCm39) |
Q428* |
probably null |
Het |
| Rptor |
A |
G |
11: 119,689,666 (GRCm39) |
D321G |
probably null |
Het |
| Sall2 |
C |
A |
14: 52,551,260 (GRCm39) |
R643L |
probably damaging |
Het |
| Skp1 |
T |
C |
11: 52,134,446 (GRCm39) |
I59T |
possibly damaging |
Het |
| Slc23a3 |
T |
G |
1: 75,105,200 (GRCm39) |
N456T |
probably damaging |
Het |
| Slc4a7 |
G |
A |
14: 14,778,850 (GRCm38) |
G920S |
probably damaging |
Het |
| Smarcd3 |
T |
C |
5: 24,797,802 (GRCm39) |
I467V |
probably benign |
Het |
| Spata31d1c |
C |
T |
13: 65,183,874 (GRCm39) |
A472V |
probably damaging |
Het |
| Spmap1 |
A |
G |
11: 97,662,441 (GRCm39) |
S144P |
probably damaging |
Het |
| Srsf6 |
T |
C |
2: 162,773,643 (GRCm39) |
I18T |
probably damaging |
Het |
| Stom |
C |
T |
2: 35,213,758 (GRCm39) |
G80D |
probably damaging |
Het |
| Svep1 |
A |
T |
4: 58,084,028 (GRCm39) |
Y1915N |
possibly damaging |
Het |
| Tmf1 |
C |
T |
6: 97,150,361 (GRCm39) |
V449I |
probably benign |
Het |
| Triobp |
C |
T |
15: 78,851,295 (GRCm39) |
A483V |
probably benign |
Het |
| Vdac1 |
G |
A |
11: 52,265,799 (GRCm39) |
|
probably null |
Het |
| Vmn2r75 |
T |
G |
7: 85,815,494 (GRCm39) |
E123D |
probably benign |
Het |
| Vmn2r79 |
T |
A |
7: 86,653,319 (GRCm39) |
V528D |
possibly damaging |
Het |
| Zdbf2 |
T |
G |
1: 63,345,750 (GRCm39) |
N1376K |
possibly damaging |
Het |
| Zeb1os1 |
T |
C |
18: 5,525,375 (GRCm39) |
|
noncoding transcript |
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 |
|
R4785:Eif4g2
|
UTSW |
7 |
110,676,003 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5037:Eif4g2
|
UTSW |
7 |
110,676,239 (GRCm39) |
missense |
probably benign |
0.03 |
|
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'- GCTTGCCAAGTTCTCCAATG -3'
(R):5'- AAACTTTGATGGCCCAGCAG -3'
Sequencing Primer
(F):5'- CCCAACATCTTGATCTTAGCAATGG -3'
(R):5'- TTGATGGCCCAGCAGCAGAG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation