Incidental Mutation 'R6286:Eif3b'
| ID |
508227 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eif3b
|
| Ensembl Gene |
ENSMUSG00000056076 |
| Gene Name |
eukaryotic translation initiation factor 3, subunit B |
| Synonyms |
EIF3-P116, Eif3s9, D5Wsu45e |
| MMRRC Submission |
044456-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6286 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
140405083-140429115 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 140405566 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 151
(D151Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098076
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100507]
|
| AlphaFold |
Q8JZQ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100507
AA Change: D151Y
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000098076
Gene: ENSMUSG00000056076
AA Change: D151Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
111 |
128 |
N/A |
INTRINSIC |
|
RRM
|
175 |
253 |
4.14e-7 |
SMART |
|
Blast:WD40
|
317 |
350 |
4e-7 |
BLAST |
|
Blast:WD40
|
354 |
397 |
2e-7 |
BLAST |
|
Pfam:eIF2A
|
496 |
691 |
1.3e-68 |
PFAM |
|
low complexity region
|
700 |
719 |
N/A |
INTRINSIC |
|
low complexity region
|
784 |
797 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2752 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
98% (40/41) |
| MGI Phenotype |
PHENOTYPE: Homozygous embryos die prenatally prior to the blastocyst stage. [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 |
|---|
| Alk |
T |
A |
17: 72,187,842 (GRCm39) |
M1300L |
probably damaging |
Het |
| C3 |
A |
T |
17: 57,531,118 (GRCm39) |
I356N |
probably damaging |
Het |
| Cntnap5b |
T |
A |
1: 100,182,798 (GRCm39) |
S276T |
possibly damaging |
Het |
| Cts7 |
C |
T |
13: 61,500,584 (GRCm39) |
G321E |
probably damaging |
Het |
| Cyp11a1 |
G |
A |
9: 57,924,701 (GRCm39) |
|
probably benign |
Het |
| Ddx4 |
T |
C |
13: 112,750,269 (GRCm39) |
T421A |
probably damaging |
Het |
| Dnttip2 |
A |
G |
3: 122,078,049 (GRCm39) |
T694A |
probably damaging |
Het |
| Fhad1 |
T |
A |
4: 141,648,209 (GRCm39) |
E219V |
probably damaging |
Het |
| Gdf2 |
C |
T |
14: 33,667,057 (GRCm39) |
R260C |
probably damaging |
Het |
| Gm14295 |
T |
C |
2: 176,501,361 (GRCm39) |
Y284H |
possibly damaging |
Het |
| Gm45861 |
A |
G |
8: 28,019,619 (GRCm39) |
T745A |
unknown |
Het |
| Grin2a |
G |
A |
16: 9,579,639 (GRCm39) |
T208I |
possibly damaging |
Het |
| Ide |
T |
A |
19: 37,255,409 (GRCm39) |
Y798F |
unknown |
Het |
| Llgl1 |
G |
A |
11: 60,600,358 (GRCm39) |
G569D |
probably damaging |
Het |
| Mrpl9 |
G |
C |
3: 94,351,097 (GRCm39) |
E92D |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,555,685 (GRCm39) |
H3536L |
unknown |
Het |
| Nasp |
T |
C |
4: 116,461,985 (GRCm39) |
Y526C |
probably damaging |
Het |
| Nfx1 |
A |
G |
4: 40,986,728 (GRCm39) |
N404D |
probably damaging |
Het |
| Nsrp1 |
A |
G |
11: 76,940,269 (GRCm39) |
I112T |
probably damaging |
Het |
| Or6c7 |
T |
C |
10: 129,323,497 (GRCm39) |
L206P |
probably damaging |
Het |
| Or8b8 |
A |
T |
9: 37,809,074 (GRCm39) |
I125F |
probably damaging |
Het |
| Oxsr1 |
A |
G |
9: 119,093,948 (GRCm39) |
V235A |
probably damaging |
Het |
| Pamr1 |
C |
T |
2: 102,471,293 (GRCm39) |
Q539* |
probably null |
Het |
| Pramel20 |
T |
A |
4: 143,297,796 (GRCm39) |
V72D |
probably benign |
Het |
| Ptpn4 |
A |
G |
1: 119,649,592 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
C |
T |
10: 58,315,394 (GRCm39) |
A2038V |
probably benign |
Het |
| Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
| Septin5 |
A |
G |
16: 18,442,127 (GRCm39) |
V253A |
probably damaging |
Het |
| Skic3 |
T |
C |
13: 76,291,359 (GRCm39) |
L993P |
probably damaging |
Het |
| Slc22a13 |
C |
A |
9: 119,037,778 (GRCm39) |
E117* |
probably null |
Het |
| Slc9c1 |
T |
C |
16: 45,398,194 (GRCm39) |
I653T |
probably benign |
Het |
| Slco6c1 |
T |
A |
1: 97,053,445 (GRCm39) |
H152L |
possibly damaging |
Het |
| Sp2 |
A |
C |
11: 96,852,372 (GRCm39) |
V184G |
probably benign |
Het |
| Taok1 |
T |
A |
11: 77,444,599 (GRCm39) |
H492L |
probably benign |
Het |
| Tas2r110 |
G |
A |
6: 132,845,490 (GRCm39) |
D174N |
probably benign |
Het |
| Trim24 |
G |
A |
6: 37,896,426 (GRCm39) |
|
probably null |
Het |
| Ttn |
G |
A |
2: 76,581,321 (GRCm39) |
R21445* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,605,967 (GRCm39) |
Y16502H |
probably damaging |
Het |
| Vmn2r84 |
A |
C |
10: 130,226,737 (GRCm39) |
M367R |
possibly damaging |
Het |
| Zfp46 |
T |
C |
4: 136,018,320 (GRCm39) |
S385P |
probably damaging |
Het |
|
| Other mutations in Eif3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01087:Eif3b
|
APN |
5 |
140,426,862 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01295:Eif3b
|
APN |
5 |
140,427,495 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01539:Eif3b
|
APN |
5 |
140,416,008 (GRCm39) |
splice site |
probably benign |
|
|
IGL01897:Eif3b
|
APN |
5 |
140,411,202 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02166:Eif3b
|
APN |
5 |
140,425,705 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02169:Eif3b
|
APN |
5 |
140,415,836 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
hangman
|
UTSW |
5 |
140,405,592 (GRCm39) |
splice site |
probably benign |
|
|
hemp
|
UTSW |
5 |
140,411,077 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0783:Eif3b
|
UTSW |
5 |
140,405,592 (GRCm39) |
splice site |
probably benign |
|
|
R1727:Eif3b
|
UTSW |
5 |
140,411,077 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1909:Eif3b
|
UTSW |
5 |
140,418,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2062:Eif3b
|
UTSW |
5 |
140,412,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2258:Eif3b
|
UTSW |
5 |
140,413,258 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4738:Eif3b
|
UTSW |
5 |
140,415,833 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4752:Eif3b
|
UTSW |
5 |
140,426,856 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4774:Eif3b
|
UTSW |
5 |
140,405,255 (GRCm39) |
missense |
probably benign |
|
|
R5342:Eif3b
|
UTSW |
5 |
140,411,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5790:Eif3b
|
UTSW |
5 |
140,427,886 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7027:Eif3b
|
UTSW |
5 |
140,411,043 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7293:Eif3b
|
UTSW |
5 |
140,405,183 (GRCm39) |
missense |
probably benign |
|
|
R7561:Eif3b
|
UTSW |
5 |
140,428,109 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7585:Eif3b
|
UTSW |
5 |
140,425,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8170:Eif3b
|
UTSW |
5 |
140,412,530 (GRCm39) |
splice site |
probably null |
|
|
R8853:Eif3b
|
UTSW |
5 |
140,425,774 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8864:Eif3b
|
UTSW |
5 |
140,412,287 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8958:Eif3b
|
UTSW |
5 |
140,411,194 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9286:Eif3b
|
UTSW |
5 |
140,411,064 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Eif3b
|
UTSW |
5 |
140,415,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATCTTGGTACGATCCCATC -3'
(R):5'- CAGATAGTCCTGTTCGTCCTGC -3'
Sequencing Primer
(F):5'- CCATGCAGGACGCTGAGAAC -3'
(R):5'- GTCCTGCCCTCCACCAAC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation