Incidental Mutation 'IGL00981:Eif3i'
ID |
27349 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Eif3i
|
Ensembl Gene |
ENSMUSG00000028798 |
Gene Name |
eukaryotic translation initiation factor 3, subunit I |
Synonyms |
D4Ertd632e, Eif3s2, TRIP-1, 36kDa |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.966)
|
Stock # |
IGL00981
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
129485767-129494441 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 129488862 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 125
(Y125F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120776
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102593]
[ENSMUST00000135055]
|
AlphaFold |
Q9QZD9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000102593
AA Change: Y173F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099653 Gene: ENSMUSG00000028798 AA Change: Y173F
Domain | Start | End | E-Value | Type |
WD40
|
1 |
38 |
1.1e1 |
SMART |
WD40
|
41 |
80 |
1.07e-8 |
SMART |
WD40
|
135 |
174 |
3.84e0 |
SMART |
WD40
|
177 |
216 |
6.63e-5 |
SMART |
Blast:WD40
|
219 |
257 |
2e-18 |
BLAST |
WD40
|
274 |
313 |
3.75e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135055
AA Change: Y125F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000120776 Gene: ENSMUSG00000028798 AA Change: Y125F
Domain | Start | End | E-Value | Type |
WD40
|
2 |
32 |
1.54e0 |
SMART |
Blast:WD40
|
35 |
78 |
1e-9 |
BLAST |
WD40
|
87 |
126 |
3.84e0 |
SMART |
WD40
|
129 |
163 |
8.25e0 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136843
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143384
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155428
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930503L19Rik |
G |
A |
18: 70,586,404 (GRCm39) |
Q478* |
probably null |
Het |
Armh4 |
A |
T |
14: 50,010,447 (GRCm39) |
L420Q |
probably damaging |
Het |
Atp7b |
T |
C |
8: 22,517,543 (GRCm39) |
|
probably null |
Het |
Bcan |
T |
A |
3: 87,905,139 (GRCm39) |
I2F |
possibly damaging |
Het |
Boc |
A |
G |
16: 44,312,164 (GRCm39) |
S633P |
probably damaging |
Het |
C2cd6 |
A |
G |
1: 59,117,104 (GRCm39) |
S130P |
probably damaging |
Het |
Cacna1a |
T |
C |
8: 85,275,182 (GRCm39) |
F490L |
probably damaging |
Het |
Carm1 |
T |
A |
9: 21,498,490 (GRCm39) |
D469E |
possibly damaging |
Het |
Cdyl |
A |
T |
13: 36,000,096 (GRCm39) |
S126C |
probably damaging |
Het |
Ceacam5 |
A |
T |
7: 17,479,458 (GRCm39) |
I192F |
probably benign |
Het |
Cyp2b19 |
C |
T |
7: 26,462,886 (GRCm39) |
T256I |
possibly damaging |
Het |
Dlgap5 |
C |
T |
14: 47,635,925 (GRCm39) |
E515K |
probably damaging |
Het |
Eif3a |
A |
T |
19: 60,755,049 (GRCm39) |
D1044E |
unknown |
Het |
Gnai1 |
T |
G |
5: 18,472,045 (GRCm39) |
N346T |
probably benign |
Het |
Kcnd1 |
C |
T |
X: 7,702,672 (GRCm39) |
T629I |
probably benign |
Het |
Mcc |
A |
T |
18: 44,582,416 (GRCm39) |
N578K |
probably damaging |
Het |
Ncoa6 |
C |
T |
2: 155,248,099 (GRCm39) |
R1735Q |
probably damaging |
Het |
Nlrp4d |
A |
T |
7: 10,116,021 (GRCm39) |
|
noncoding transcript |
Het |
Nsun5 |
A |
T |
5: 135,404,249 (GRCm39) |
Q352L |
possibly damaging |
Het |
Or14j6 |
G |
A |
17: 38,215,072 (GRCm39) |
V212M |
probably benign |
Het |
Or2d2b |
C |
A |
7: 106,705,268 (GRCm39) |
E267* |
probably null |
Het |
Or2d2b |
T |
A |
7: 106,705,269 (GRCm39) |
K266N |
probably benign |
Het |
Or8g18 |
A |
G |
9: 39,148,901 (GRCm39) |
V276A |
probably benign |
Het |
Pkdrej |
C |
T |
15: 85,703,857 (GRCm39) |
G693D |
probably damaging |
Het |
Rpl10a-ps2 |
A |
T |
13: 8,990,566 (GRCm39) |
|
probably benign |
Het |
Spink1 |
C |
T |
18: 43,870,159 (GRCm39) |
|
probably null |
Het |
Sqle |
T |
C |
15: 59,198,468 (GRCm39) |
V464A |
probably damaging |
Het |
Trav6-4 |
A |
T |
14: 53,692,153 (GRCm39) |
T84S |
probably damaging |
Het |
Trim33 |
T |
A |
3: 103,259,311 (GRCm39) |
|
probably benign |
Het |
Txlng |
T |
C |
X: 161,567,368 (GRCm39) |
M319V |
probably benign |
Het |
Wee1 |
A |
T |
7: 109,738,876 (GRCm39) |
E582D |
probably damaging |
Het |
|
Other mutations in Eif3i |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02222:Eif3i
|
APN |
4 |
129,485,881 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02975:Eif3i
|
APN |
4 |
129,489,105 (GRCm39) |
missense |
probably damaging |
0.99 |
R0683:Eif3i
|
UTSW |
4 |
129,487,328 (GRCm39) |
missense |
probably benign |
0.12 |
R0783:Eif3i
|
UTSW |
4 |
129,485,869 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0920:Eif3i
|
UTSW |
4 |
129,489,050 (GRCm39) |
splice site |
probably benign |
|
R1251:Eif3i
|
UTSW |
4 |
129,487,178 (GRCm39) |
missense |
probably damaging |
1.00 |
R2132:Eif3i
|
UTSW |
4 |
129,490,719 (GRCm39) |
missense |
probably benign |
0.02 |
R2133:Eif3i
|
UTSW |
4 |
129,490,719 (GRCm39) |
missense |
probably benign |
0.02 |
R3978:Eif3i
|
UTSW |
4 |
129,486,129 (GRCm39) |
missense |
probably damaging |
1.00 |
R4781:Eif3i
|
UTSW |
4 |
129,489,066 (GRCm39) |
missense |
probably benign |
0.11 |
R4808:Eif3i
|
UTSW |
4 |
129,485,857 (GRCm39) |
missense |
probably benign |
0.15 |
R5096:Eif3i
|
UTSW |
4 |
129,494,237 (GRCm39) |
missense |
probably damaging |
0.97 |
R5335:Eif3i
|
UTSW |
4 |
129,488,979 (GRCm39) |
missense |
probably benign |
0.20 |
R6048:Eif3i
|
UTSW |
4 |
129,487,145 (GRCm39) |
missense |
probably benign |
0.01 |
R7087:Eif3i
|
UTSW |
4 |
129,486,104 (GRCm39) |
missense |
probably damaging |
1.00 |
R7503:Eif3i
|
UTSW |
4 |
129,494,207 (GRCm39) |
missense |
probably damaging |
0.97 |
R8798:Eif3i
|
UTSW |
4 |
129,490,717 (GRCm39) |
missense |
probably benign |
0.00 |
R9652:Eif3i
|
UTSW |
4 |
129,489,094 (GRCm39) |
missense |
probably benign |
|
RF012:Eif3i
|
UTSW |
4 |
129,485,872 (GRCm39) |
missense |
probably damaging |
1.00 |
RF019:Eif3i
|
UTSW |
4 |
129,494,258 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Eif3i
|
UTSW |
4 |
129,494,368 (GRCm39) |
unclassified |
probably benign |
|
|
Posted On |
2013-04-17 |