Incidental Mutation 'IGL00765:Eif3e'
ID |
10463 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Eif3e
|
Ensembl Gene |
ENSMUSG00000022336 |
Gene Name |
eukaryotic translation initiation factor 3, subunit E |
Synonyms |
Eif3s6, Int6, eIF3-p48, eIF3-p46, 48kDa |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.957)
|
Stock # |
IGL00765
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
43113454-43146115 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 43141745 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 55
(M55K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022960
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022960]
|
AlphaFold |
P60229 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022960
AA Change: M55K
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000022960 Gene: ENSMUSG00000022336 AA Change: M55K
Domain | Start | End | E-Value | Type |
eIF3_N
|
5 |
138 |
4.88e-70 |
SMART |
Blast:eIF3_N
|
157 |
193 |
2e-14 |
BLAST |
Blast:PINT
|
218 |
251 |
7e-9 |
BLAST |
Blast:PINT
|
284 |
315 |
3e-13 |
BLAST |
PINT
|
327 |
411 |
8.17e-19 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226415
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228892
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc1 |
C |
T |
16: 14,229,372 (GRCm39) |
T368I |
probably damaging |
Het |
Bub1 |
T |
A |
2: 127,671,392 (GRCm39) |
N64I |
probably damaging |
Het |
Ccdc97 |
A |
G |
7: 25,414,277 (GRCm39) |
L159P |
probably damaging |
Het |
Chrnd |
T |
C |
1: 87,123,431 (GRCm39) |
V214A |
probably damaging |
Het |
Csf2rb2 |
A |
G |
15: 78,176,916 (GRCm39) |
S185P |
probably benign |
Het |
Dmxl2 |
A |
G |
9: 54,322,706 (GRCm39) |
|
probably benign |
Het |
Ercc6l2 |
T |
C |
13: 63,996,586 (GRCm39) |
V365A |
possibly damaging |
Het |
Fndc1 |
A |
G |
17: 7,991,525 (GRCm39) |
S724P |
unknown |
Het |
Htt |
T |
C |
5: 35,034,769 (GRCm39) |
|
probably benign |
Het |
Ints4 |
C |
T |
7: 97,184,412 (GRCm39) |
T839I |
probably damaging |
Het |
Lrp6 |
T |
G |
6: 134,518,817 (GRCm39) |
T83P |
probably benign |
Het |
Lrrc8d |
C |
T |
5: 105,959,818 (GRCm39) |
T76I |
possibly damaging |
Het |
Nae1 |
T |
C |
8: 105,244,582 (GRCm39) |
|
probably benign |
Het |
Nlrp14 |
T |
C |
7: 106,789,346 (GRCm39) |
V45A |
possibly damaging |
Het |
Nrp2 |
C |
A |
1: 62,743,410 (GRCm39) |
S16* |
probably null |
Het |
Nup155 |
T |
C |
15: 8,182,712 (GRCm39) |
I1225T |
probably benign |
Het |
Pnpla7 |
G |
T |
2: 24,870,236 (GRCm39) |
A43S |
probably damaging |
Het |
Prcp |
T |
C |
7: 92,582,307 (GRCm39) |
S431P |
probably benign |
Het |
Rbck1 |
A |
G |
2: 152,172,874 (GRCm39) |
|
probably benign |
Het |
Smg8 |
T |
C |
11: 86,968,867 (GRCm39) |
E963G |
probably damaging |
Het |
Tanc1 |
A |
C |
2: 59,636,645 (GRCm39) |
M836L |
probably benign |
Het |
Tnpo1 |
A |
G |
13: 98,986,612 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Eif3e |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02333:Eif3e
|
APN |
15 |
43,129,533 (GRCm39) |
missense |
probably benign |
0.37 |
IGL02669:Eif3e
|
APN |
15 |
43,146,088 (GRCm39) |
start codon destroyed |
probably benign |
|
IGL03119:Eif3e
|
APN |
15 |
43,129,000 (GRCm39) |
missense |
probably benign |
|
IGL03200:Eif3e
|
APN |
15 |
43,115,657 (GRCm39) |
missense |
probably damaging |
1.00 |
Verdugo
|
UTSW |
15 |
43,135,685 (GRCm39) |
missense |
probably benign |
0.29 |
R0152:Eif3e
|
UTSW |
15 |
43,115,632 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1439:Eif3e
|
UTSW |
15 |
43,141,824 (GRCm39) |
splice site |
probably benign |
|
R1613:Eif3e
|
UTSW |
15 |
43,113,620 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1997:Eif3e
|
UTSW |
15 |
43,129,005 (GRCm39) |
missense |
probably damaging |
1.00 |
R2221:Eif3e
|
UTSW |
15 |
43,114,943 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3761:Eif3e
|
UTSW |
15 |
43,124,480 (GRCm39) |
missense |
probably damaging |
0.99 |
R4241:Eif3e
|
UTSW |
15 |
43,126,086 (GRCm39) |
missense |
probably damaging |
0.97 |
R4571:Eif3e
|
UTSW |
15 |
43,129,558 (GRCm39) |
missense |
possibly damaging |
0.74 |
R5061:Eif3e
|
UTSW |
15 |
43,115,657 (GRCm39) |
missense |
probably damaging |
1.00 |
R5227:Eif3e
|
UTSW |
15 |
43,114,917 (GRCm39) |
missense |
probably benign |
0.01 |
R5367:Eif3e
|
UTSW |
15 |
43,115,700 (GRCm39) |
missense |
probably damaging |
1.00 |
R5417:Eif3e
|
UTSW |
15 |
43,128,917 (GRCm39) |
missense |
probably benign |
0.00 |
R5497:Eif3e
|
UTSW |
15 |
43,134,366 (GRCm39) |
missense |
probably damaging |
0.98 |
R5928:Eif3e
|
UTSW |
15 |
43,138,728 (GRCm39) |
splice site |
probably null |
|
R6083:Eif3e
|
UTSW |
15 |
43,129,540 (GRCm39) |
missense |
probably damaging |
1.00 |
R6337:Eif3e
|
UTSW |
15 |
43,115,692 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6964:Eif3e
|
UTSW |
15 |
43,135,685 (GRCm39) |
missense |
probably benign |
0.29 |
R7692:Eif3e
|
UTSW |
15 |
43,126,642 (GRCm39) |
missense |
probably damaging |
0.98 |
R7825:Eif3e
|
UTSW |
15 |
43,129,667 (GRCm39) |
splice site |
probably null |
|
R8034:Eif3e
|
UTSW |
15 |
43,135,703 (GRCm39) |
missense |
probably benign |
0.02 |
R9463:Eif3e
|
UTSW |
15 |
43,138,709 (GRCm39) |
missense |
probably benign |
|
R9583:Eif3e
|
UTSW |
15 |
43,128,957 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Posted On |
2012-12-06 |