Incidental Mutation 'R4051:Eif4b'
ID |
314177 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Eif4b
|
Ensembl Gene |
ENSMUSG00000058655 |
Gene Name |
eukaryotic translation initiation factor 4B |
Synonyms |
2310046H11Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.963)
|
Stock # |
R4051 ()
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
101982208-102005608 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 101995039 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 211
(Y211C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127774
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169681]
[ENSMUST00000229400]
|
AlphaFold |
Q8BGD9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000169681
AA Change: Y211C
PolyPhen 2
Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000127774 Gene: ENSMUSG00000058655 AA Change: Y211C
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
13 |
N/A |
INTRINSIC |
RRM
|
97 |
169 |
1.54e-15 |
SMART |
low complexity region
|
221 |
273 |
N/A |
INTRINSIC |
low complexity region
|
282 |
327 |
N/A |
INTRINSIC |
low complexity region
|
347 |
359 |
N/A |
INTRINSIC |
low complexity region
|
372 |
391 |
N/A |
INTRINSIC |
low complexity region
|
408 |
428 |
N/A |
INTRINSIC |
low complexity region
|
574 |
581 |
N/A |
INTRINSIC |
low complexity region
|
584 |
597 |
N/A |
INTRINSIC |
low complexity region
|
599 |
608 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229122
|
Predicted Effect |
unknown
Transcript: ENSMUST00000229400
AA Change: Y211C
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
A |
C |
7: 45,635,987 (GRCm39) |
L1020R |
probably damaging |
Het |
Ahnak |
A |
C |
19: 8,991,691 (GRCm39) |
D4325A |
probably damaging |
Het |
Chtf18 |
A |
G |
17: 25,938,168 (GRCm39) |
V955A |
probably damaging |
Het |
Dclk2 |
A |
G |
3: 86,738,129 (GRCm39) |
|
probably null |
Het |
Disc1 |
A |
G |
8: 125,875,164 (GRCm39) |
T547A |
possibly damaging |
Het |
Fli1 |
T |
G |
9: 32,363,458 (GRCm39) |
D176A |
probably benign |
Het |
Hcn2 |
A |
C |
10: 79,569,521 (GRCm39) |
|
probably null |
Het |
Ice1 |
A |
G |
13: 70,751,646 (GRCm39) |
V1480A |
probably damaging |
Het |
Ier5l |
A |
C |
2: 30,363,324 (GRCm39) |
S234A |
probably benign |
Het |
Ino80b |
G |
C |
6: 83,099,314 (GRCm39) |
P178R |
probably damaging |
Het |
Itga11 |
C |
T |
9: 62,662,933 (GRCm39) |
Q550* |
probably null |
Het |
Kdr |
T |
A |
5: 76,129,068 (GRCm39) |
M193L |
probably benign |
Het |
Kif3b |
G |
A |
2: 153,165,477 (GRCm39) |
R628Q |
probably damaging |
Het |
Ldlrad3 |
C |
T |
2: 101,783,507 (GRCm39) |
D240N |
probably damaging |
Het |
Met |
T |
C |
6: 17,548,728 (GRCm39) |
V924A |
possibly damaging |
Het |
Or52m1 |
T |
C |
7: 102,290,233 (GRCm39) |
V260A |
possibly damaging |
Het |
Peg10 |
T |
C |
6: 4,754,534 (GRCm39) |
L105P |
probably benign |
Het |
Phtf1 |
A |
G |
3: 103,912,824 (GRCm39) |
T717A |
possibly damaging |
Het |
Ptafr |
T |
C |
4: 132,307,305 (GRCm39) |
W232R |
probably benign |
Het |
Rnase4 |
A |
G |
14: 51,342,462 (GRCm39) |
K62R |
probably benign |
Het |
Slamf7 |
T |
C |
1: 171,464,951 (GRCm39) |
K261E |
possibly damaging |
Het |
Slc9c1 |
T |
A |
16: 45,363,593 (GRCm39) |
Y120N |
probably damaging |
Het |
Sstr2 |
A |
C |
11: 113,515,482 (GRCm39) |
T134P |
probably damaging |
Het |
Steap4 |
A |
G |
5: 8,030,404 (GRCm39) |
Y420C |
probably damaging |
Het |
Tbc1d9b |
T |
C |
11: 50,062,070 (GRCm39) |
C1210R |
probably benign |
Het |
Tnfsf10 |
T |
A |
3: 27,389,503 (GRCm39) |
I188N |
probably damaging |
Het |
Trav7-3 |
A |
G |
14: 53,681,203 (GRCm39) |
T82A |
probably benign |
Het |
Usp46 |
T |
C |
5: 74,163,416 (GRCm39) |
N283S |
probably benign |
Het |
Vmn2r84 |
T |
G |
10: 130,226,767 (GRCm39) |
N357T |
probably damaging |
Het |
Zfp217 |
T |
C |
2: 169,954,536 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Eif4b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01349:Eif4b
|
APN |
15 |
101,999,858 (GRCm39) |
missense |
probably benign |
0.23 |
IGL01896:Eif4b
|
APN |
15 |
102,003,721 (GRCm39) |
missense |
probably benign |
0.23 |
IGL03348:Eif4b
|
APN |
15 |
102,001,466 (GRCm39) |
unclassified |
probably benign |
|
R1577:Eif4b
|
UTSW |
15 |
101,998,336 (GRCm39) |
nonsense |
probably null |
|
R1727:Eif4b
|
UTSW |
15 |
101,998,497 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1931:Eif4b
|
UTSW |
15 |
101,997,411 (GRCm39) |
missense |
unknown |
|
R3927:Eif4b
|
UTSW |
15 |
101,992,745 (GRCm39) |
missense |
probably damaging |
1.00 |
R4392:Eif4b
|
UTSW |
15 |
101,995,076 (GRCm39) |
critical splice donor site |
probably null |
|
R5105:Eif4b
|
UTSW |
15 |
101,992,631 (GRCm39) |
missense |
probably benign |
0.42 |
R5716:Eif4b
|
UTSW |
15 |
101,990,494 (GRCm39) |
missense |
probably benign |
0.36 |
R6488:Eif4b
|
UTSW |
15 |
102,001,422 (GRCm39) |
unclassified |
probably benign |
|
R7048:Eif4b
|
UTSW |
15 |
102,001,571 (GRCm39) |
unclassified |
probably benign |
|
R7647:Eif4b
|
UTSW |
15 |
101,997,129 (GRCm39) |
missense |
unknown |
|
R7648:Eif4b
|
UTSW |
15 |
101,997,435 (GRCm39) |
missense |
unknown |
|
R8145:Eif4b
|
UTSW |
15 |
102,001,423 (GRCm39) |
missense |
unknown |
|
R8709:Eif4b
|
UTSW |
15 |
102,002,116 (GRCm39) |
missense |
unknown |
|
R9079:Eif4b
|
UTSW |
15 |
102,003,177 (GRCm39) |
missense |
unknown |
|
R9298:Eif4b
|
UTSW |
15 |
101,990,449 (GRCm39) |
missense |
possibly damaging |
0.72 |
R9716:Eif4b
|
UTSW |
15 |
101,990,443 (GRCm39) |
missense |
probably benign |
0.31 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCAGTGCAATAGAAACCGTAG -3'
(R):5'- TGTGTTCAAAGAGAAATGCCTG -3'
Sequencing Primer
(F):5'- TAGGTGGGATGTGAGGGACC -3'
(R):5'- CAAAGAGAAATGCCTGTACTTTCTG -3'
|
Posted On |
2015-04-30 |