Incidental Mutation 'IGL02222:Eif3i'
ID |
285196 |
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 # |
IGL02222
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
129485767-129494441 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 129485881 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 315
(D315N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099653
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102593]
[ENSMUST00000135055]
|
AlphaFold |
Q9QZD9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102593
AA Change: D315N
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000099653 Gene: ENSMUSG00000028798 AA Change: D315N
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
|
SMART Domains |
Protein: ENSMUSP00000120776 Gene: ENSMUSG00000028798
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: 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 |
Abca12 |
T |
A |
1: 71,322,045 (GRCm39) |
R1682W |
probably benign |
Het |
Angptl6 |
A |
T |
9: 20,785,203 (GRCm39) |
M450K |
probably damaging |
Het |
Armc12 |
C |
A |
17: 28,757,694 (GRCm39) |
N275K |
probably damaging |
Het |
Cd27 |
T |
C |
6: 125,211,495 (GRCm39) |
H144R |
probably damaging |
Het |
Cenpf |
T |
C |
1: 189,386,641 (GRCm39) |
K1880E |
probably benign |
Het |
Dchs1 |
A |
T |
7: 105,414,094 (GRCm39) |
I907N |
probably damaging |
Het |
Dpy19l4 |
A |
C |
4: 11,281,116 (GRCm39) |
F443C |
possibly damaging |
Het |
Fam217a |
A |
G |
13: 35,095,102 (GRCm39) |
L128P |
probably damaging |
Het |
Fetub |
C |
T |
16: 22,751,078 (GRCm39) |
L62F |
probably damaging |
Het |
Fmn1 |
A |
T |
2: 113,423,454 (GRCm39) |
I1047F |
probably damaging |
Het |
G2e3 |
A |
G |
12: 51,410,016 (GRCm39) |
H267R |
probably damaging |
Het |
Gigyf2 |
A |
G |
1: 87,338,585 (GRCm39) |
|
probably null |
Het |
Gm10650 |
T |
C |
3: 127,833,789 (GRCm39) |
|
noncoding transcript |
Het |
Grip1 |
C |
T |
10: 119,835,714 (GRCm39) |
T470I |
probably damaging |
Het |
Hmcn1 |
T |
G |
1: 150,682,152 (GRCm39) |
D466A |
probably benign |
Het |
Lrrc63 |
T |
C |
14: 75,323,580 (GRCm39) |
Y548C |
probably damaging |
Het |
Naaa |
T |
C |
5: 92,407,409 (GRCm39) |
|
probably benign |
Het |
Parpbp |
T |
A |
10: 87,975,947 (GRCm39) |
E55D |
possibly damaging |
Het |
Pnpt1 |
A |
T |
11: 29,109,327 (GRCm39) |
D691V |
possibly damaging |
Het |
Pnpt1 |
G |
A |
11: 29,080,842 (GRCm39) |
A29T |
probably benign |
Het |
Pramel11 |
A |
G |
4: 143,622,416 (GRCm39) |
M313T |
possibly damaging |
Het |
Psg25 |
T |
C |
7: 18,263,652 (GRCm39) |
N57S |
probably damaging |
Het |
Selenbp2 |
T |
A |
3: 94,607,269 (GRCm39) |
V168E |
probably damaging |
Het |
Syne2 |
G |
A |
12: 75,999,617 (GRCm39) |
E2337K |
probably damaging |
Het |
Synj2 |
A |
G |
17: 6,087,755 (GRCm39) |
T1269A |
probably benign |
Het |
Tent5b |
T |
C |
4: 133,213,864 (GRCm39) |
V245A |
probably damaging |
Het |
Tnfrsf13c |
C |
A |
15: 82,107,364 (GRCm39) |
V144L |
probably damaging |
Het |
Uspl1 |
G |
T |
5: 149,130,854 (GRCm39) |
V132L |
probably benign |
Het |
Vmn2r58 |
T |
A |
7: 41,513,449 (GRCm39) |
Y398F |
possibly damaging |
Het |
Vps13a |
T |
A |
19: 16,659,539 (GRCm39) |
T1663S |
probably benign |
Het |
Ythdc1 |
G |
A |
5: 86,975,902 (GRCm39) |
R503H |
possibly damaging |
Het |
|
Other mutations in Eif3i |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00981:Eif3i
|
APN |
4 |
129,488,862 (GRCm39) |
missense |
probably benign |
|
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 |
2015-04-16 |