Incidental Mutation 'IGL01302:Eif4g2'
| ID |
73266 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01302
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
110667192-110682237 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 110673920 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 695
(Q695K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124551
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159305]
[ENSMUST00000160132]
[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: ENSMUST00000161051
AA Change: Q657K
PolyPhen 2
Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000125375
Gene: ENSMUSG00000005610
AA Change: Q657K
| 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: ENSMUST00000161079
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162415
AA Change: Q695K
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000124551
Gene: ENSMUSG00000005610
AA Change: Q695K
| 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: ENSMUST00000161682
|
| 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 |
|
| Coding Region Coverage |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,349,470 (GRCm39) |
|
probably benign |
Het |
| Abcb5 |
T |
A |
12: 118,881,935 (GRCm39) |
D598V |
probably damaging |
Het |
| Adss1 |
T |
C |
12: 112,601,170 (GRCm39) |
|
probably benign |
Het |
| Akap9 |
T |
A |
5: 4,020,711 (GRCm39) |
S1141T |
probably benign |
Het |
| Avil |
T |
C |
10: 126,852,903 (GRCm39) |
|
probably null |
Het |
| Avl9 |
C |
A |
6: 56,702,075 (GRCm39) |
H77N |
probably damaging |
Het |
| Cacna1e |
A |
G |
1: 154,319,653 (GRCm39) |
V1349A |
probably damaging |
Het |
| Cdc23 |
A |
C |
18: 34,767,697 (GRCm39) |
S483A |
probably benign |
Het |
| Cep192 |
C |
T |
18: 67,991,974 (GRCm39) |
P1951S |
probably benign |
Het |
| Cp |
A |
G |
3: 20,020,531 (GRCm39) |
T175A |
probably damaging |
Het |
| Dubr |
A |
C |
16: 50,552,998 (GRCm39) |
|
noncoding transcript |
Het |
| Endod1 |
A |
T |
9: 14,268,535 (GRCm39) |
S317T |
possibly damaging |
Het |
| Ep400 |
T |
C |
5: 110,889,914 (GRCm39) |
T450A |
probably benign |
Het |
| Erc1 |
A |
C |
6: 119,699,264 (GRCm39) |
V790G |
probably damaging |
Het |
| Fam222a |
T |
A |
5: 114,732,514 (GRCm39) |
L23Q |
possibly damaging |
Het |
| Fancf |
A |
G |
7: 51,511,035 (GRCm39) |
V323A |
probably benign |
Het |
| Grik2 |
T |
A |
10: 49,120,426 (GRCm39) |
Q621L |
probably damaging |
Het |
| Gsk3b |
G |
T |
16: 38,040,380 (GRCm39) |
R319L |
probably benign |
Het |
| Ikzf1 |
A |
G |
11: 11,718,923 (GRCm39) |
Y297C |
probably damaging |
Het |
| Katnal2 |
T |
C |
18: 77,134,863 (GRCm39) |
|
probably benign |
Het |
| Lrba |
G |
T |
3: 86,202,707 (GRCm39) |
C289F |
probably damaging |
Het |
| Mos |
T |
C |
4: 3,871,815 (GRCm39) |
|
probably benign |
Het |
| Mycn |
T |
C |
12: 12,987,587 (GRCm39) |
D270G |
possibly damaging |
Het |
| Or52e15 |
A |
T |
7: 104,645,928 (GRCm39) |
M61K |
probably damaging |
Het |
| Or6c207 |
T |
A |
10: 129,104,392 (GRCm39) |
I267F |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,726,013 (GRCm39) |
|
probably benign |
Het |
| Pgm1 |
A |
G |
4: 99,786,803 (GRCm39) |
D14G |
probably damaging |
Het |
| Pramel7 |
T |
A |
2: 87,321,717 (GRCm39) |
D106V |
possibly damaging |
Het |
| Prdm9 |
G |
T |
17: 15,773,608 (GRCm39) |
H263N |
probably benign |
Het |
| Psd4 |
T |
A |
2: 24,286,799 (GRCm39) |
|
probably null |
Het |
| Ptprc |
G |
A |
1: 138,027,369 (GRCm39) |
T493I |
possibly damaging |
Het |
| Rbbp8 |
T |
A |
18: 11,855,036 (GRCm39) |
S420R |
probably benign |
Het |
| Sap30bp |
A |
G |
11: 115,853,373 (GRCm39) |
T219A |
probably damaging |
Het |
| Shld2 |
C |
T |
14: 33,981,684 (GRCm39) |
V485I |
probably benign |
Het |
| Slc2a7 |
T |
A |
4: 150,242,021 (GRCm39) |
L200Q |
probably damaging |
Het |
| Slc38a6 |
T |
A |
12: 73,335,299 (GRCm39) |
|
probably null |
Het |
| Tatdn2 |
T |
A |
6: 113,680,985 (GRCm39) |
|
probably benign |
Het |
| Thrb |
A |
G |
14: 18,011,056 (GRCm38) |
|
probably benign |
Het |
| Timp4 |
T |
C |
6: 115,223,269 (GRCm39) |
Y218C |
possibly damaging |
Het |
| Tlr5 |
A |
G |
1: 182,802,313 (GRCm39) |
D525G |
probably benign |
Het |
| Usp32 |
G |
T |
11: 84,879,308 (GRCm39) |
T1467N |
probably benign |
Het |
| Vmn2r78 |
A |
G |
7: 86,564,569 (GRCm39) |
I5V |
unknown |
Het |
| Zbtb43 |
T |
C |
2: 33,344,103 (GRCm39) |
H374R |
probably benign |
Het |
| Zfhx4 |
C |
A |
3: 5,308,628 (GRCm39) |
T618K |
probably damaging |
Het |
|
| Other mutations in Eif4g2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation