Incidental Mutation 'IGL01539:Eif3b'
ID |
90114 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Eif3b
|
Ensembl Gene |
ENSMUSG00000056076 |
Gene Name |
eukaryotic translation initiation factor 3, subunit B |
Synonyms |
EIF3-P116, Eif3s9, D5Wsu45e |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01539
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
140405083-140429115 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 140416008 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098076
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100507]
|
AlphaFold |
Q8JZQ9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000100507
|
SMART Domains |
Protein: ENSMUSP00000098076 Gene: ENSMUSG00000056076
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184833
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197632
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Clca4b |
T |
A |
3: 144,631,918 (GRCm39) |
M196L |
probably benign |
Het |
Cyp4a14 |
T |
C |
4: 115,344,374 (GRCm39) |
N497S |
possibly damaging |
Het |
Grin2c |
T |
C |
11: 115,140,932 (GRCm39) |
Q1062R |
probably benign |
Het |
Ina |
A |
G |
19: 47,003,903 (GRCm39) |
E237G |
probably damaging |
Het |
Lmx1b |
T |
C |
2: 33,529,510 (GRCm39) |
D83G |
possibly damaging |
Het |
Macf1 |
A |
G |
4: 123,289,701 (GRCm39) |
|
probably benign |
Het |
Muc6 |
T |
A |
7: 141,236,306 (GRCm39) |
M406L |
probably benign |
Het |
Myo15b |
T |
C |
11: 115,754,299 (GRCm39) |
I933T |
probably benign |
Het |
Or4c121 |
A |
G |
2: 89,023,836 (GRCm39) |
F181L |
possibly damaging |
Het |
Or6c204 |
T |
C |
10: 129,022,804 (GRCm39) |
N162S |
probably benign |
Het |
Pde1b |
A |
T |
15: 103,433,772 (GRCm39) |
|
probably benign |
Het |
Rab29 |
G |
A |
1: 131,798,445 (GRCm39) |
R75Q |
probably damaging |
Het |
Scn10a |
A |
T |
9: 119,467,764 (GRCm39) |
I792N |
probably damaging |
Het |
Serpinb6a |
A |
T |
13: 34,114,117 (GRCm39) |
V70D |
probably damaging |
Het |
Slco1a7 |
A |
G |
6: 141,673,333 (GRCm39) |
S402P |
possibly damaging |
Het |
Spart |
A |
G |
3: 55,024,723 (GRCm39) |
D106G |
possibly damaging |
Het |
Sucla2 |
A |
G |
14: 73,828,561 (GRCm39) |
E359G |
probably damaging |
Het |
Sycp2 |
T |
C |
2: 178,016,488 (GRCm39) |
Y658C |
probably damaging |
Het |
Tenm2 |
T |
A |
11: 35,997,654 (GRCm39) |
T811S |
possibly damaging |
Het |
Trim66 |
C |
A |
7: 109,054,273 (GRCm39) |
M1312I |
probably benign |
Het |
Tspan18 |
A |
G |
2: 93,041,198 (GRCm39) |
S135P |
probably damaging |
Het |
Ube2j1 |
T |
C |
4: 33,043,993 (GRCm39) |
|
probably benign |
Het |
Ubr1 |
A |
C |
2: 120,756,494 (GRCm39) |
V711G |
possibly damaging |
Het |
Veph1 |
T |
C |
3: 66,065,496 (GRCm39) |
T524A |
probably benign |
Het |
Vmn1r222 |
A |
T |
13: 23,417,059 (GRCm39) |
F51L |
probably benign |
Het |
Vwf |
G |
T |
6: 125,567,225 (GRCm39) |
V338L |
possibly damaging |
Het |
Zfp770 |
G |
T |
2: 114,027,574 (GRCm39) |
A165E |
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 |
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 |
R6286:Eif3b
|
UTSW |
5 |
140,405,566 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
|
Posted On |
2013-12-03 |