Incidental Mutation 'R0614:Eif4g2'
| ID |
54946 |
| 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 |
038803-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0614 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
111067750-111083030 bp(-) (GRCm38) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 111077223 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124551
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159305]
[ENSMUST00000160132]
[ENSMUST00000160966]
[ENSMUST00000161051]
[ENSMUST00000161051]
[ENSMUST00000162415]
[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 null
Transcript: ENSMUST00000161051
|
| SMART Domains |
Protein: ENSMUSP00000125375
Gene: ENSMUSG00000005610
| 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 null
Transcript: ENSMUST00000161051
|
| SMART Domains |
Protein: ENSMUSP00000125375
Gene: ENSMUSG00000005610
| 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 |
noncoding transcript
Transcript: ENSMUST00000161158
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161682
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161736
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000162415
|
| SMART Domains |
Protein: ENSMUSP00000124551
Gene: ENSMUSG00000005610
| 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 |
probably null
Transcript: ENSMUST00000162415
|
| SMART Domains |
Protein: ENSMUSP00000124551
Gene: ENSMUSG00000005610
| 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: ENSMUST00000162394
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161790
|
| 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: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 94.9%
|
| Validation Efficiency |
97% (61/63) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
C |
T |
13: 77,192,663 (GRCm38) |
T137I |
probably benign |
Het |
| 3110082I17Rik |
C |
T |
5: 139,364,031 (GRCm38) |
V88I |
possibly damaging |
Het |
| 4930453N24Rik |
T |
A |
16: 64,766,614 (GRCm38) |
Q249L |
probably damaging |
Het |
| Akap2 |
C |
A |
4: 57,856,720 (GRCm38) |
A926E |
probably benign |
Het |
| Ap1g2 |
C |
T |
14: 55,099,773 (GRCm38) |
V702I |
probably benign |
Het |
| Armcx5 |
G |
A |
X: 135,746,815 (GRCm38) |
E547K |
probably damaging |
Het |
| Asah2 |
C |
A |
19: 32,016,728 (GRCm38) |
V406L |
probably damaging |
Het |
| Atp8b1 |
T |
C |
18: 64,533,587 (GRCm38) |
|
probably benign |
Het |
| Axl |
C |
A |
7: 25,774,163 (GRCm38) |
R346L |
probably benign |
Het |
| Baz1a |
G |
A |
12: 54,941,519 (GRCm38) |
R282* |
probably null |
Het |
| Card14 |
A |
G |
11: 119,322,827 (GRCm38) |
N200S |
probably benign |
Het |
| Cdt1 |
A |
G |
8: 122,568,137 (GRCm38) |
T28A |
probably benign |
Het |
| Cep250 |
C |
T |
2: 155,970,097 (GRCm38) |
Q438* |
probably null |
Het |
| Dapk1 |
C |
A |
13: 60,718,132 (GRCm38) |
P181Q |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 118,070,568 (GRCm38) |
|
probably benign |
Het |
| Dph7 |
T |
C |
2: 24,968,956 (GRCm38) |
|
probably null |
Het |
| Edc4 |
A |
T |
8: 105,889,396 (GRCm38) |
D801V |
possibly damaging |
Het |
| Eml2 |
T |
C |
7: 19,202,591 (GRCm38) |
L531P |
probably damaging |
Het |
| Ephb2 |
T |
C |
4: 136,673,365 (GRCm38) |
Y533C |
probably benign |
Het |
| Fcho1 |
C |
T |
8: 71,712,560 (GRCm38) |
A418T |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,977,533 (GRCm38) |
K1399E |
probably benign |
Het |
| Hcls1 |
A |
G |
16: 36,962,625 (GRCm38) |
D446G |
probably damaging |
Het |
| Hif1a |
T |
A |
12: 73,945,631 (GRCm38) |
N787K |
probably damaging |
Het |
| Ints14 |
T |
C |
9: 64,964,433 (GRCm38) |
S18P |
probably benign |
Het |
| Kalrn |
A |
T |
16: 33,993,670 (GRCm38) |
|
probably benign |
Het |
| Llgl2 |
T |
A |
11: 115,850,267 (GRCm38) |
D502E |
probably damaging |
Het |
| Lrwd1 |
A |
G |
5: 136,123,500 (GRCm38) |
V570A |
probably damaging |
Het |
| Mga |
C |
G |
2: 119,964,466 (GRCm38) |
P2877R |
probably damaging |
Het |
| Mvd |
T |
C |
8: 122,436,553 (GRCm38) |
I313V |
probably benign |
Het |
| Myo15b |
C |
A |
11: 115,882,913 (GRCm38) |
P270T |
probably damaging |
Het |
| Naip1 |
C |
A |
13: 100,444,200 (GRCm38) |
V180L |
probably benign |
Het |
| Ofd1 |
T |
C |
X: 166,435,540 (GRCm38) |
|
probably benign |
Het |
| Olfr1233 |
T |
A |
2: 89,339,985 (GRCm38) |
I106F |
probably damaging |
Het |
| Olfr1423 |
A |
T |
19: 12,036,565 (GRCm38) |
M59K |
possibly damaging |
Het |
| Olfr348 |
T |
A |
2: 36,786,693 (GRCm38) |
L56H |
probably damaging |
Het |
| Otogl |
G |
A |
10: 107,798,355 (GRCm38) |
P1420S |
probably benign |
Het |
| Pcnt |
C |
T |
10: 76,420,316 (GRCm38) |
V697M |
probably damaging |
Het |
| Plekha7 |
A |
T |
7: 116,154,645 (GRCm38) |
Y702* |
probably null |
Het |
| Plxnb3 |
A |
G |
X: 73,764,358 (GRCm38) |
|
probably benign |
Het |
| Ptgis |
A |
G |
2: 167,206,882 (GRCm38) |
F405L |
probably damaging |
Het |
| Ptprk |
C |
T |
10: 28,075,136 (GRCm38) |
P19L |
probably damaging |
Het |
| Ptprt |
A |
G |
2: 161,812,120 (GRCm38) |
V530A |
possibly damaging |
Het |
| Rasgrp4 |
A |
T |
7: 29,145,851 (GRCm38) |
Y299F |
probably damaging |
Het |
| Slc39a11 |
T |
A |
11: 113,523,626 (GRCm38) |
|
probably null |
Het |
| Slc6a15 |
T |
A |
10: 103,404,352 (GRCm38) |
L312* |
probably null |
Het |
| Slf1 |
T |
A |
13: 77,049,114 (GRCm38) |
M794L |
probably benign |
Het |
| Sntg2 |
G |
A |
12: 30,257,978 (GRCm38) |
T236I |
possibly damaging |
Het |
| Stau1 |
T |
C |
2: 166,950,806 (GRCm38) |
Y413C |
probably damaging |
Het |
| Syne2 |
T |
G |
12: 75,912,353 (GRCm38) |
|
probably null |
Het |
| Tas2r104 |
A |
T |
6: 131,685,202 (GRCm38) |
N181K |
probably damaging |
Het |
| Tmem81 |
G |
A |
1: 132,507,731 (GRCm38) |
V92I |
probably benign |
Het |
| Trap1 |
A |
G |
16: 4,060,751 (GRCm38) |
|
probably benign |
Het |
| Trip12 |
T |
C |
1: 84,757,761 (GRCm38) |
E905G |
probably damaging |
Het |
| Usp2 |
C |
T |
9: 44,092,492 (GRCm38) |
R494* |
probably null |
Het |
| Vps13a |
G |
T |
19: 16,652,694 (GRCm38) |
R2692S |
probably damaging |
Het |
| Zfhx3 |
T |
C |
8: 108,948,539 (GRCm38) |
S2074P |
probably benign |
Het |
| Zfhx3 |
C |
G |
8: 108,948,967 (GRCm38) |
Y2216* |
probably null |
Het |
| Zfp423 |
A |
G |
8: 87,782,114 (GRCm38) |
F409S |
probably damaging |
Het |
| Zfp472 |
G |
A |
17: 32,977,934 (GRCm38) |
E328K |
possibly damaging |
Het |
| Zfp619 |
T |
A |
7: 39,537,675 (GRCm38) |
M1043K |
possibly damaging |
Het |
| Zfp940 |
T |
C |
7: 29,846,246 (GRCm38) |
I79V |
probably benign |
Het |
|
| Other mutations in Eif4g2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01302:Eif4g2
|
APN |
7 |
111,074,713 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
IGL01402:Eif4g2
|
APN |
7 |
111,077,027 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL02502:Eif4g2
|
APN |
7 |
111,081,541 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02538:Eif4g2
|
APN |
7 |
111,079,316 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL02717:Eif4g2
|
APN |
7 |
111,078,113 (GRCm38) |
missense |
probably benign |
0.45 |
|
R0547:Eif4g2
|
UTSW |
7 |
111,078,293 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1351:Eif4g2
|
UTSW |
7 |
111,074,080 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1764:Eif4g2
|
UTSW |
7 |
111,074,487 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2009:Eif4g2
|
UTSW |
7 |
111,074,198 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2318:Eif4g2
|
UTSW |
7 |
111,073,858 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R2382:Eif4g2
|
UTSW |
7 |
111,075,046 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2986:Eif4g2
|
UTSW |
7 |
111,078,483 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4012:Eif4g2
|
UTSW |
7 |
111,074,151 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R4592:Eif4g2
|
UTSW |
7 |
111,078,302 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4785:Eif4g2
|
UTSW |
7 |
111,076,796 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5037:Eif4g2
|
UTSW |
7 |
111,077,032 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5627:Eif4g2
|
UTSW |
7 |
111,074,239 (GRCm38) |
missense |
probably benign |
0.32 |
|
R5988:Eif4g2
|
UTSW |
7 |
111,077,230 (GRCm38) |
missense |
probably benign |
0.11 |
|
R6229:Eif4g2
|
UTSW |
7 |
111,077,713 (GRCm38) |
splice site |
probably null |
|
|
R8122:Eif4g2
|
UTSW |
7 |
111,078,553 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R8218:Eif4g2
|
UTSW |
7 |
111,074,432 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R8711:Eif4g2
|
UTSW |
7 |
111,073,920 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8726:Eif4g2
|
UTSW |
7 |
111,077,422 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9156:Eif4g2
|
UTSW |
7 |
111,073,762 (GRCm38) |
missense |
|
|
|
R9216:Eif4g2
|
UTSW |
7 |
111,074,208 (GRCm38) |
missense |
probably benign |
0.08 |
|
R9277:Eif4g2
|
UTSW |
7 |
111,074,859 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9334:Eif4g2
|
UTSW |
7 |
111,074,824 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGAAGTCATTCCTCCCTTGAGCC -3'
(R):5'- TGCCAGCCAGGATTCGTTTCCTAC -3'
Sequencing Primer
(F):5'- TCCCTTGAGCCATAGGAGC -3'
(R):5'- TGCAGGTAAGATGGTTTTTACAG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation