Incidental Mutation 'R0547:Eif4g2'
| ID |
44904 |
| 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 |
038739-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0547 (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 110677500 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 177
(N177S)
|
| 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: N177S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125375
Gene: ENSMUSG00000005610
AA Change: N177S
| 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 |
probably damaging
Transcript: ENSMUST00000162415
AA Change: N177S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124551
Gene: ENSMUSG00000005610
AA Change: N177S
| 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: ENSMUST00000161682
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161158
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161736
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161790
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162394
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209597
|
| 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 |
0.4660 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| Validation Efficiency |
98% (57/58) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057N15Rik |
A |
G |
16: 88,570,498 (GRCm39) |
Y181H |
probably benign |
Het |
| A530084C06Rik |
A |
G |
13: 31,742,813 (GRCm39) |
|
probably benign |
Het |
| Adamtsl1 |
A |
G |
4: 86,274,592 (GRCm39) |
D1208G |
probably benign |
Het |
| Ankrd55 |
T |
C |
13: 112,504,757 (GRCm39) |
F501S |
probably benign |
Het |
| Aox1 |
G |
A |
1: 58,349,201 (GRCm39) |
D656N |
probably damaging |
Het |
| Atr |
A |
T |
9: 95,781,218 (GRCm39) |
|
probably benign |
Het |
| Bicra |
G |
A |
7: 15,706,173 (GRCm39) |
R1423W |
probably damaging |
Het |
| Cabyr |
T |
A |
18: 12,884,073 (GRCm39) |
S187T |
probably benign |
Het |
| Car5b |
G |
A |
X: 162,762,297 (GRCm39) |
R282C |
probably damaging |
Het |
| Cdon |
A |
T |
9: 35,368,794 (GRCm39) |
T343S |
possibly damaging |
Het |
| Cep350 |
C |
T |
1: 155,777,181 (GRCm39) |
|
probably null |
Het |
| Cimap1a |
A |
G |
7: 140,428,728 (GRCm39) |
|
probably null |
Het |
| Copa |
T |
C |
1: 171,949,254 (GRCm39) |
|
probably benign |
Het |
| Cyp4f18 |
T |
C |
8: 72,749,854 (GRCm39) |
D265G |
probably benign |
Het |
| Dgkb |
T |
A |
12: 38,654,157 (GRCm39) |
C759S |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,021,757 (GRCm39) |
M3470V |
probably benign |
Het |
| Etfb |
C |
T |
7: 43,104,002 (GRCm39) |
Q145* |
probably null |
Het |
| Flnb |
T |
A |
14: 7,912,943 (GRCm38) |
|
probably null |
Het |
| G430095P16Rik |
G |
A |
8: 85,453,271 (GRCm39) |
|
probably benign |
Het |
| Gfral |
A |
T |
9: 76,115,924 (GRCm39) |
S17T |
probably benign |
Het |
| Gpr26 |
T |
C |
7: 131,586,026 (GRCm39) |
I332T |
probably benign |
Het |
| Greb1 |
T |
A |
12: 16,773,412 (GRCm39) |
T221S |
probably benign |
Het |
| Haus5 |
A |
T |
7: 30,358,508 (GRCm39) |
S289T |
probably damaging |
Het |
| Ighv6-4 |
T |
C |
12: 114,370,221 (GRCm39) |
Y77C |
probably damaging |
Het |
| Il23r |
A |
T |
6: 67,400,685 (GRCm39) |
D548E |
probably benign |
Het |
| Il23r |
A |
T |
6: 67,463,235 (GRCm39) |
F86Y |
possibly damaging |
Het |
| Inppl1 |
A |
T |
7: 101,480,210 (GRCm39) |
M424K |
probably benign |
Het |
| Jam3 |
A |
G |
9: 27,010,184 (GRCm39) |
Y267H |
probably damaging |
Het |
| Lrrc37 |
T |
C |
11: 103,510,990 (GRCm39) |
N326S |
unknown |
Het |
| Mms19 |
A |
T |
19: 41,951,857 (GRCm39) |
M160K |
probably damaging |
Het |
| Muc2 |
CGTG |
CGTGTG |
7: 141,699,185 (GRCm38) |
|
probably null |
Het |
| Mup5 |
A |
G |
4: 61,751,237 (GRCm39) |
L137P |
probably damaging |
Het |
| Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
| Ntrk2 |
G |
A |
13: 59,022,184 (GRCm39) |
S413N |
probably damaging |
Het |
| Nuak2 |
C |
A |
1: 132,259,941 (GRCm39) |
T573N |
probably benign |
Het |
| Or4m1 |
A |
T |
14: 50,557,575 (GRCm39) |
I239K |
probably benign |
Het |
| Or52h9 |
G |
A |
7: 104,202,563 (GRCm39) |
V146M |
probably benign |
Het |
| Padi4 |
GCTGCGTACCTCCAC |
GC |
4: 140,475,760 (GRCm39) |
|
probably benign |
Het |
| Pclo |
T |
A |
5: 14,842,086 (GRCm39) |
I4787N |
unknown |
Het |
| Pde8a |
G |
T |
7: 80,973,878 (GRCm39) |
V612L |
probably benign |
Het |
| Pear1 |
A |
T |
3: 87,696,107 (GRCm39) |
|
probably null |
Het |
| Pgbd1 |
A |
G |
13: 21,607,688 (GRCm39) |
Y169H |
probably damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,786,448 (GRCm39) |
|
probably benign |
Het |
| Prkag3 |
C |
T |
1: 74,783,879 (GRCm39) |
|
probably null |
Het |
| Rsph9 |
A |
T |
17: 46,455,050 (GRCm39) |
S9T |
possibly damaging |
Het |
| Rxfp1 |
A |
T |
3: 79,612,876 (GRCm39) |
|
probably null |
Het |
| Senp7 |
A |
G |
16: 55,996,189 (GRCm39) |
E756G |
probably damaging |
Het |
| Serpina1e |
G |
T |
12: 103,915,450 (GRCm39) |
T252K |
probably benign |
Het |
| Sipa1l1 |
T |
A |
12: 82,484,510 (GRCm39) |
S1555T |
probably benign |
Het |
| Slain1 |
T |
C |
14: 103,932,711 (GRCm39) |
S432P |
probably damaging |
Het |
| Slc37a2 |
A |
T |
9: 37,144,418 (GRCm39) |
|
probably null |
Het |
| Thg1l |
C |
T |
11: 45,845,018 (GRCm39) |
R18Q |
probably damaging |
Het |
| Tnn |
A |
G |
1: 159,943,907 (GRCm39) |
|
probably benign |
Het |
| Trim32 |
G |
A |
4: 65,531,491 (GRCm39) |
R16Q |
probably damaging |
Het |
| Tshz3 |
A |
G |
7: 36,470,842 (GRCm39) |
T944A |
probably damaging |
Het |
| Ttn |
C |
G |
2: 76,684,774 (GRCm39) |
|
probably benign |
Het |
| Ythdc2 |
T |
C |
18: 44,973,331 (GRCm39) |
S323P |
possibly damaging |
Het |
| Zfp827 |
A |
G |
8: 79,786,939 (GRCm39) |
N35S |
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 |
|
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 |
|
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'- AATTGTGACTGCCTCACCCCTAACC -3'
(R):5'- TGCACCAAACTTTGATGGCCCAGC -3'
Sequencing Primer
(F):5'- AAGCTTGCCAAGTTCTCCAATG -3'
(R):5'- TTGATGGCCCAGCAGCAG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation