Incidental Mutation 'IGL01087:Eif3b'
ID |
51076 |
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 # |
IGL01087
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
140405083-140429115 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 140426862 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 706
(I706T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098076
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100507]
[ENSMUST00000197549]
|
AlphaFold |
Q8JZQ9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000100507
AA Change: I706T
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000098076 Gene: ENSMUSG00000056076 AA Change: I706T
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 |
probably benign
Transcript: ENSMUST00000197549
|
Predicted Effect |
unknown
Transcript: ENSMUST00000199377
AA Change: I77T
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003E16Rik |
A |
T |
6: 83,139,770 (GRCm39) |
|
probably null |
Het |
Abca6 |
C |
A |
11: 110,082,476 (GRCm39) |
A1166S |
probably benign |
Het |
Arhgdib |
C |
A |
6: 136,910,622 (GRCm39) |
K46N |
probably damaging |
Het |
Ash1l |
T |
A |
3: 88,971,209 (GRCm39) |
V2507D |
probably damaging |
Het |
B4galnt1 |
A |
T |
10: 127,002,060 (GRCm39) |
I63F |
probably damaging |
Het |
Bclaf1 |
A |
G |
10: 20,201,056 (GRCm39) |
D394G |
probably damaging |
Het |
Btbd10 |
T |
C |
7: 112,915,763 (GRCm39) |
D442G |
probably damaging |
Het |
Cd44 |
A |
T |
2: 102,652,607 (GRCm39) |
L492H |
probably damaging |
Het |
Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
Chsy1 |
T |
G |
7: 65,821,874 (GRCm39) |
V703G |
possibly damaging |
Het |
Clrn2 |
T |
C |
5: 45,621,311 (GRCm39) |
|
probably benign |
Het |
Crtc3 |
T |
C |
7: 80,248,487 (GRCm39) |
|
probably benign |
Het |
Cul1 |
A |
G |
6: 47,485,978 (GRCm39) |
T342A |
probably benign |
Het |
Dgki |
T |
C |
6: 36,989,846 (GRCm39) |
D631G |
probably damaging |
Het |
Fam120a |
A |
G |
13: 49,055,549 (GRCm39) |
L713P |
probably damaging |
Het |
I830077J02Rik |
C |
A |
3: 105,836,049 (GRCm39) |
|
probably null |
Het |
Jmjd8 |
A |
C |
17: 26,048,145 (GRCm39) |
|
probably benign |
Het |
Kmt5a |
T |
C |
5: 124,589,443 (GRCm39) |
|
probably benign |
Het |
Krt87 |
C |
A |
15: 101,329,706 (GRCm39) |
C486F |
probably benign |
Het |
Lrp2 |
A |
T |
2: 69,354,417 (GRCm39) |
N470K |
probably damaging |
Het |
Med1 |
C |
A |
11: 98,071,111 (GRCm39) |
D79Y |
probably damaging |
Het |
Myo1d |
A |
G |
11: 80,573,261 (GRCm39) |
S189P |
probably damaging |
Het |
Myo9a |
T |
A |
9: 59,697,361 (GRCm39) |
Y381N |
possibly damaging |
Het |
Nipbl |
C |
A |
15: 8,379,981 (GRCm39) |
S937I |
possibly damaging |
Het |
Nlrp4g |
A |
G |
9: 124,353,858 (GRCm38) |
|
noncoding transcript |
Het |
Nutm2 |
A |
G |
13: 50,623,665 (GRCm39) |
T121A |
probably damaging |
Het |
Opa1 |
C |
T |
16: 29,405,815 (GRCm39) |
P127S |
probably damaging |
Het |
Or2h1b |
C |
T |
17: 37,462,332 (GRCm39) |
C177Y |
probably damaging |
Het |
Pcdh15 |
A |
T |
10: 74,178,464 (GRCm39) |
I574F |
possibly damaging |
Het |
Pcnx1 |
G |
A |
12: 82,042,113 (GRCm39) |
|
probably benign |
Het |
Prex2 |
A |
G |
1: 11,138,328 (GRCm39) |
T136A |
probably benign |
Het |
Prph2 |
A |
G |
17: 47,222,085 (GRCm39) |
T155A |
probably damaging |
Het |
Rsl1d1 |
T |
C |
16: 11,012,539 (GRCm39) |
K296E |
possibly damaging |
Het |
Syne1 |
A |
T |
10: 5,375,708 (GRCm39) |
I128N |
probably damaging |
Het |
Tlk1 |
A |
T |
2: 70,582,660 (GRCm39) |
N156K |
possibly damaging |
Het |
Trem2 |
C |
T |
17: 48,658,956 (GRCm39) |
T222I |
probably damaging |
Het |
Trip12 |
A |
T |
1: 84,735,580 (GRCm39) |
F872L |
probably damaging |
Het |
Trrap |
T |
A |
5: 144,783,349 (GRCm39) |
S3393T |
probably damaging |
Het |
Vwa8 |
T |
A |
14: 79,172,669 (GRCm39) |
S304T |
probably benign |
Het |
Zc3h7a |
T |
C |
16: 10,971,046 (GRCm39) |
T328A |
probably benign |
Het |
|
Other mutations in Eif3b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2013-06-21 |