Incidental Mutation 'R6808:Eif6'
| ID |
533647 |
| 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 |
044921-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6808 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
155661757-155668845 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 155665206 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 151
(Y151C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029142
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029141]
[ENSMUST00000029142]
[ENSMUST00000029143]
[ENSMUST00000109638]
[ENSMUST00000124586]
[ENSMUST00000129830]
[ENSMUST00000134278]
[ENSMUST00000154841]
|
| AlphaFold |
O55135 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029141
|
| SMART Domains |
Protein: ENSMUSP00000029141
Gene: ENSMUSG00000027612
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
42 |
N/A |
INTRINSIC |
|
Pfam:PG_binding_1
|
52 |
107 |
6.9e-14 |
PFAM |
|
ZnMc
|
132 |
301 |
1.78e-60 |
SMART |
|
low complexity region
|
323 |
346 |
N/A |
INTRINSIC |
|
HX
|
357 |
400 |
7.4e-9 |
SMART |
|
HX
|
402 |
446 |
7.01e-10 |
SMART |
|
HX
|
449 |
495 |
6.49e-14 |
SMART |
|
HX
|
497 |
542 |
6.64e-11 |
SMART |
|
Pfam:DUF3377
|
548 |
618 |
1.9e-30 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029142
AA Change: Y151C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029142
Gene: ENSMUSG00000027613
AA Change: Y151C
| 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: ENSMUST00000124586
|
| SMART Domains |
Protein: ENSMUSP00000145349
Gene: ENSMUSG00000074649
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
37 |
N/A |
INTRINSIC |
|
| 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 |
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 |
|
| Meta Mutation Damage Score |
0.9615 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (40/40) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl9 |
A |
T |
17: 33,652,098 (GRCm39) |
I53F |
probably damaging |
Het |
| Apol7b |
T |
A |
15: 77,308,873 (GRCm39) |
D75V |
probably damaging |
Het |
| Brd8 |
C |
T |
18: 34,741,528 (GRCm39) |
A387T |
probably damaging |
Het |
| Cacybp |
T |
C |
1: 160,036,169 (GRCm39) |
|
probably null |
Het |
| Calcoco1 |
T |
C |
15: 102,618,875 (GRCm39) |
K444E |
probably damaging |
Het |
| Cers2 |
G |
A |
3: 95,228,320 (GRCm39) |
R120H |
probably benign |
Het |
| Chd4 |
T |
A |
6: 125,099,086 (GRCm39) |
C1587S |
possibly damaging |
Het |
| Col11a1 |
A |
T |
3: 113,888,593 (GRCm39) |
K286N |
possibly damaging |
Het |
| Creld2 |
A |
G |
15: 88,709,413 (GRCm39) |
N308S |
probably damaging |
Het |
| Cyp2d12 |
T |
C |
15: 82,440,934 (GRCm39) |
S151P |
probably damaging |
Het |
| Dlec1 |
A |
G |
9: 118,955,242 (GRCm39) |
H642R |
probably benign |
Het |
| Erbb4 |
A |
T |
1: 68,079,462 (GRCm39) |
M1206K |
probably benign |
Het |
| Fam178b |
G |
A |
1: 36,639,216 (GRCm39) |
T361M |
probably damaging |
Het |
| Fbxo10 |
A |
G |
4: 45,059,035 (GRCm39) |
F234S |
probably benign |
Het |
| Gcc2 |
A |
T |
10: 58,094,064 (GRCm39) |
E13D |
probably damaging |
Het |
| Gm19410 |
C |
A |
8: 36,239,733 (GRCm39) |
A143E |
probably damaging |
Het |
| Gtf3c5 |
T |
C |
2: 28,460,499 (GRCm39) |
K367E |
probably damaging |
Het |
| Ifi204 |
T |
C |
1: 173,589,269 (GRCm39) |
E54G |
probably benign |
Het |
| Kalrn |
A |
T |
16: 33,848,346 (GRCm39) |
I492N |
probably damaging |
Het |
| Kifbp |
T |
C |
10: 62,410,923 (GRCm39) |
N140S |
possibly damaging |
Het |
| Map2k5 |
A |
G |
9: 63,229,528 (GRCm39) |
Y168H |
probably benign |
Het |
| Mbip |
A |
C |
12: 56,384,383 (GRCm39) |
|
probably null |
Het |
| Mcmdc2 |
C |
T |
1: 10,004,242 (GRCm39) |
T574I |
probably damaging |
Het |
| Or10a3b |
T |
C |
7: 108,444,747 (GRCm39) |
T157A |
probably benign |
Het |
| Or52j3 |
T |
G |
7: 102,836,511 (GRCm39) |
D234E |
probably benign |
Het |
| Or5w22 |
A |
T |
2: 87,363,285 (GRCm39) |
M303L |
probably benign |
Het |
| Or8d2 |
T |
A |
9: 38,760,085 (GRCm39) |
I225N |
probably damaging |
Het |
| Or8g33 |
T |
C |
9: 39,337,836 (GRCm39) |
Y177C |
probably damaging |
Het |
| Or9s27 |
A |
T |
1: 92,516,768 (GRCm39) |
R239W |
probably damaging |
Het |
| Pdzd8 |
A |
G |
19: 59,287,957 (GRCm39) |
*1148Q |
probably null |
Het |
| Phactr1 |
T |
A |
13: 43,286,445 (GRCm39) |
I582N |
probably damaging |
Het |
| Phf20l1 |
T |
G |
15: 66,502,762 (GRCm39) |
L714R |
probably damaging |
Het |
| Pramel32 |
T |
C |
4: 88,548,291 (GRCm39) |
E38G |
probably damaging |
Het |
| Rcor3 |
T |
C |
1: 191,822,179 (GRCm39) |
E6G |
possibly damaging |
Het |
| Skic3 |
T |
C |
13: 76,333,298 (GRCm39) |
S1516P |
probably damaging |
Het |
| Sptlc2 |
G |
A |
12: 87,397,069 (GRCm39) |
T239I |
possibly damaging |
Het |
| Tmc1 |
A |
T |
19: 20,772,880 (GRCm39) |
V707D |
probably damaging |
Het |
| Tmem63b |
T |
A |
17: 45,971,734 (GRCm39) |
E827V |
probably benign |
Het |
| Triml1 |
A |
G |
8: 43,594,258 (GRCm39) |
S58P |
probably damaging |
Het |
| Zdbf2 |
A |
G |
1: 63,347,687 (GRCm39) |
H2022R |
possibly 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 |
|
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 |
|
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'- TCTGTTCCACGTCTCAAGGC -3'
(R):5'- GCAGATTTGTGGTTAAAAGGGATTC -3'
Sequencing Primer
(F):5'- ACGTCTCAAGGCCCCAGTC -3'
(R):5'- TTGTGGTTAAAAGGGATTCAGGGAAC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation