Incidental Mutation 'IGL01145:Eif6'
| ID |
50631 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Eif6
|
| Ensembl Gene |
ENSMUSG00000027613 |
| Gene Name |
eukaryotic translation initiation factor 6 |
| Synonyms |
p27BBP, eIF6, imc-415, Itgb4bp |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01145
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
155661757-155668845 bp(-) (GRCm39) |
| Type of Mutation |
utr 5 prime |
| DNA Base Change (assembly) |
A to G
at 155668355 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115715
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029142]
[ENSMUST00000029143]
[ENSMUST00000109638]
[ENSMUST00000129830]
[ENSMUST00000134278]
[ENSMUST00000154841]
|
| AlphaFold |
O55135 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029142
|
| SMART Domains |
Protein: ENSMUSP00000029142
Gene: ENSMUSG00000027613
| Domain | Start | End | E-Value | Type |
|---|
|
eIF6
|
3 |
204 |
2.72e-136 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029143
|
| SMART Domains |
Protein: ENSMUSP00000029143
Gene: ENSMUSG00000074647
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1669
|
61 |
337 |
3.1e-107 |
PFAM |
|
low complexity region
|
347 |
357 |
N/A |
INTRINSIC |
|
low complexity region
|
368 |
385 |
N/A |
INTRINSIC |
|
low complexity region
|
398 |
411 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
484 |
N/A |
INTRINSIC |
|
low complexity region
|
570 |
589 |
N/A |
INTRINSIC |
|
low complexity region
|
672 |
685 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109638
|
| SMART Domains |
Protein: ENSMUSP00000105266
Gene: ENSMUSG00000027613
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:eIF-6
|
3 |
70 |
1.2e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129830
|
| SMART Domains |
Protein: ENSMUSP00000120206
Gene: ENSMUSG00000027613
| Domain | Start | End | E-Value | Type |
|---|
|
eIF6
|
3 |
68 |
4.5e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134278
|
| SMART Domains |
Protein: ENSMUSP00000123190
Gene: ENSMUSG00000027613
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:eIF-6
|
1 |
58 |
5.1e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134811
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138962
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141926
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154841
|
| SMART Domains |
Protein: ENSMUSP00000115715
Gene: ENSMUSG00000027613
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:eIF-6
|
3 |
45 |
7.8e-10 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a eukaryotic translation initiation factor that regulates both ribosome biogenesis and translation, which are rate-limiting factors for cell growth. The encoded protein binds 60S ribosomes and prevents their association with 40S ribosomes. This gene may play a role in oncogenesis as well. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality prior to E3.5 and mice heterozygous for the allele exhibit reduced body, liver and adipose tissue weights associated with a reduced translation rate and delayed G1/S phase transition. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
C |
7: 78,749,030 (GRCm39) |
D1267A |
probably damaging |
Het |
| Ankrd44 |
A |
G |
1: 54,801,418 (GRCm39) |
|
probably null |
Het |
| Arap3 |
T |
C |
18: 38,122,232 (GRCm39) |
M619V |
probably benign |
Het |
| C8b |
A |
T |
4: 104,637,777 (GRCm39) |
Y83F |
probably benign |
Het |
| Capn15 |
A |
G |
17: 26,182,024 (GRCm39) |
V595A |
probably damaging |
Het |
| Cbx1 |
A |
T |
11: 96,692,392 (GRCm39) |
D93V |
probably benign |
Het |
| Cyp2c66 |
G |
T |
19: 39,159,405 (GRCm39) |
E285D |
probably benign |
Het |
| Dkk4 |
T |
A |
8: 23,115,402 (GRCm39) |
V84D |
probably damaging |
Het |
| Dnah17 |
T |
A |
11: 117,937,999 (GRCm39) |
I3343F |
possibly damaging |
Het |
| Dus3l |
T |
C |
17: 57,074,627 (GRCm39) |
|
probably benign |
Het |
| Ecpas |
A |
C |
4: 58,811,501 (GRCm39) |
D1467E |
probably null |
Het |
| Eya3 |
A |
G |
4: 132,437,306 (GRCm39) |
I389V |
probably damaging |
Het |
| Gm5916 |
A |
T |
9: 36,031,998 (GRCm39) |
D95E |
unknown |
Het |
| Gucy2d |
T |
A |
7: 98,099,170 (GRCm39) |
S329T |
probably benign |
Het |
| Hook3 |
C |
T |
8: 26,549,372 (GRCm39) |
M157I |
probably benign |
Het |
| Iapp |
C |
A |
6: 142,249,090 (GRCm39) |
R48S |
probably damaging |
Het |
| Ints11 |
A |
G |
4: 155,969,583 (GRCm39) |
Y153C |
probably damaging |
Het |
| Layn |
G |
A |
9: 50,985,346 (GRCm39) |
T62I |
probably benign |
Het |
| Llgl2 |
A |
G |
11: 115,744,631 (GRCm39) |
H876R |
probably benign |
Het |
| Lrp4 |
T |
C |
2: 91,317,396 (GRCm39) |
I840T |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,762,658 (GRCm39) |
F796L |
probably benign |
Het |
| Naip1 |
A |
G |
13: 100,545,629 (GRCm39) |
S1300P |
probably benign |
Het |
| Nfat5 |
T |
A |
8: 108,093,847 (GRCm39) |
I602N |
probably damaging |
Het |
| Omt2a |
T |
C |
9: 78,220,238 (GRCm39) |
M64V |
probably benign |
Het |
| Pcnx1 |
T |
C |
12: 82,038,809 (GRCm39) |
S2025P |
probably damaging |
Het |
| Pemt |
A |
G |
11: 59,874,293 (GRCm39) |
L62P |
probably damaging |
Het |
| Polrmt |
A |
G |
10: 79,576,971 (GRCm39) |
V399A |
probably benign |
Het |
| Rasgrp4 |
T |
C |
7: 28,850,898 (GRCm39) |
S77P |
possibly damaging |
Het |
| Rrm2b |
G |
A |
15: 37,944,804 (GRCm39) |
P111L |
probably damaging |
Het |
| Slc10a4-ps |
A |
T |
5: 72,743,547 (GRCm39) |
|
probably null |
Het |
| Thap12 |
A |
G |
7: 98,362,110 (GRCm39) |
*121W |
probably null |
Het |
| Tnik |
A |
G |
3: 28,658,316 (GRCm39) |
|
probably benign |
Het |
| Trio |
G |
A |
15: 27,818,253 (GRCm39) |
|
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,310,407 (GRCm39) |
E930G |
probably damaging |
Het |
| Zfp335 |
G |
T |
2: 164,749,422 (GRCm39) |
T299K |
probably benign |
Het |
|
| Other mutations in Eif6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01490:Eif6
|
APN |
2 |
155,668,102 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02366:Eif6
|
APN |
2 |
155,668,092 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02796:Eif6
|
UTSW |
2 |
155,668,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2151:Eif6
|
UTSW |
2 |
155,664,810 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3776:Eif6
|
UTSW |
2 |
155,668,296 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4659:Eif6
|
UTSW |
2 |
155,668,101 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6808:Eif6
|
UTSW |
2 |
155,665,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7733:Eif6
|
UTSW |
2 |
155,665,152 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8546:Eif6
|
UTSW |
2 |
155,668,420 (GRCm39) |
unclassified |
probably benign |
|
|
R8680:Eif6
|
UTSW |
2 |
155,664,772 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8798:Eif6
|
UTSW |
2 |
155,664,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9062:Eif6
|
UTSW |
2 |
155,665,928 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9177:Eif6
|
UTSW |
2 |
155,665,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation