Incidental Mutation 'R3776:Eif6'
| ID |
273580 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eif6
|
| Ensembl Gene |
ENSMUSG00000027613 |
| Gene Name |
eukaryotic translation initiation factor 6 |
| Synonyms |
p27BBP, eIF6, imc-415, Itgb4bp |
| MMRRC Submission |
040874-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3776 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
155661757-155668845 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 155668296 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 20
(T20S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029142
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029142]
[ENSMUST00000029143]
[ENSMUST00000109638]
[ENSMUST00000129830]
[ENSMUST00000134278]
[ENSMUST00000154841]
|
| AlphaFold |
O55135 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029142
AA Change: T20S
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000029142
Gene: ENSMUSG00000027613
AA Change: T20S
| 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 |
possibly damaging
Transcript: ENSMUST00000109638
AA Change: T20S
PolyPhen 2
Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000105266
Gene: ENSMUSG00000027613
AA Change: T20S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:eIF-6
|
3 |
70 |
1.2e-20 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000129830
AA Change: T20S
PolyPhen 2
Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000120206
Gene: ENSMUSG00000027613
AA Change: T20S
| 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 |
possibly damaging
Transcript: ENSMUST00000154841
AA Change: T20S
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000115715
Gene: ENSMUSG00000027613
AA Change: T20S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:eIF-6
|
3 |
45 |
7.8e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141926
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer1 |
C |
T |
17: 57,262,111 (GRCm39) |
V264M |
probably damaging |
Het |
| Adgrg1 |
C |
T |
8: 95,736,283 (GRCm39) |
S479F |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,735,911 (GRCm39) |
|
probably benign |
Het |
| Atp2b1 |
CTTTTT |
CTTTTTT |
10: 98,815,731 (GRCm39) |
|
probably null |
Het |
| Ccdc88c |
G |
A |
12: 100,913,438 (GRCm39) |
T529M |
probably damaging |
Het |
| Cdc27 |
T |
G |
11: 104,406,263 (GRCm39) |
E617D |
probably damaging |
Het |
| Cfap54 |
A |
G |
10: 92,880,962 (GRCm39) |
V367A |
probably damaging |
Het |
| Col6a4 |
G |
A |
9: 105,928,900 (GRCm39) |
Q1445* |
probably null |
Het |
| Crispld2 |
T |
C |
8: 120,756,005 (GRCm39) |
S325P |
probably damaging |
Het |
| Dll1 |
T |
C |
17: 15,588,786 (GRCm39) |
S630G |
probably benign |
Het |
| Ednra |
A |
G |
8: 78,401,724 (GRCm39) |
S189P |
probably damaging |
Het |
| Fbxl5 |
A |
G |
5: 43,915,618 (GRCm39) |
V555A |
possibly damaging |
Het |
| Gdpd5 |
G |
A |
7: 99,103,779 (GRCm39) |
R422Q |
probably benign |
Het |
| Glt1d1 |
T |
A |
5: 127,771,375 (GRCm39) |
F289I |
probably damaging |
Het |
| Gm5565 |
T |
A |
5: 146,095,419 (GRCm39) |
E192V |
probably benign |
Het |
| Gpc5 |
T |
C |
14: 115,607,472 (GRCm39) |
M358T |
probably benign |
Het |
| Helz2 |
G |
A |
2: 180,882,182 (GRCm39) |
R204* |
probably null |
Het |
| Hhex |
A |
T |
19: 37,425,718 (GRCm39) |
Q149L |
probably damaging |
Het |
| Kat2b |
A |
G |
17: 53,874,609 (GRCm39) |
|
probably null |
Het |
| Kif23 |
G |
A |
9: 61,832,274 (GRCm39) |
S623L |
probably benign |
Het |
| Klra2 |
A |
T |
6: 131,219,926 (GRCm39) |
L85H |
probably benign |
Het |
| Krt32 |
A |
G |
11: 99,978,947 (GRCm39) |
C36R |
probably benign |
Het |
| Megf10 |
G |
A |
18: 57,410,177 (GRCm39) |
G653S |
probably damaging |
Het |
| Mpp3 |
G |
T |
11: 101,914,193 (GRCm39) |
S134* |
probably null |
Het |
| Mttp |
T |
C |
3: 137,820,024 (GRCm39) |
|
probably null |
Het |
| Mxi1 |
C |
A |
19: 53,360,160 (GRCm39) |
A294E |
probably benign |
Het |
| Nin |
G |
T |
12: 70,085,456 (GRCm39) |
Q1592K |
possibly damaging |
Het |
| Nlrc5 |
A |
G |
8: 95,199,467 (GRCm39) |
E26G |
possibly damaging |
Het |
| Nup160 |
G |
T |
2: 90,552,420 (GRCm39) |
C1132F |
probably benign |
Het |
| Or4a15 |
A |
T |
2: 89,193,108 (GRCm39) |
S222T |
possibly damaging |
Het |
| Pdgfc |
A |
G |
3: 81,048,858 (GRCm39) |
T89A |
probably damaging |
Het |
| Pdgfrb |
A |
G |
18: 61,214,992 (GRCm39) |
D1007G |
probably benign |
Het |
| Pgbd1 |
A |
G |
13: 21,612,543 (GRCm39) |
L98P |
probably benign |
Het |
| Pkhd1l1 |
G |
A |
15: 44,378,371 (GRCm39) |
|
probably null |
Het |
| Plod1 |
A |
G |
4: 148,015,734 (GRCm39) |
V105A |
possibly damaging |
Het |
| Polg2 |
G |
T |
11: 106,670,110 (GRCm39) |
F53L |
probably benign |
Het |
| Ptprc |
T |
G |
1: 137,992,511 (GRCm39) |
Q1205H |
probably damaging |
Het |
| Rab3gap2 |
T |
C |
1: 185,009,402 (GRCm39) |
L1086P |
probably damaging |
Het |
| Rnf19a |
T |
A |
15: 36,266,058 (GRCm39) |
N13I |
probably benign |
Het |
| Slc25a19 |
A |
G |
11: 115,506,285 (GRCm39) |
Y303H |
probably damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
| Trpm3 |
T |
C |
19: 22,955,966 (GRCm39) |
F1143L |
possibly damaging |
Het |
| Ubxn11 |
C |
T |
4: 133,835,605 (GRCm39) |
P4S |
probably damaging |
Het |
| Zg16 |
T |
A |
7: 126,649,704 (GRCm39) |
I86F |
probably damaging |
Het |
|
| Other mutations in Eif6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01145:Eif6
|
APN |
2 |
155,668,355 (GRCm39) |
utr 5 prime |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTGTAGAAACACGGATTCG -3'
(R):5'- AAAAGTCAGTTCCGGGTCG -3'
Sequencing Primer
(F):5'- GAAACACGGATTCGCTGCTTACTG -3'
(R):5'- AGCCAGGAGGGATCCGTC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation