Incidental Mutation 'IGL01113:Eif3d'
ID |
52818 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Eif3d
|
Ensembl Gene |
ENSMUSG00000016554 |
Gene Name |
eukaryotic translation initiation factor 3, subunit D |
Synonyms |
66/67kDa, eIF3p66, mouse translation initiation factor eIF3 p66, Eif3s7 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.966)
|
Stock # |
IGL01113
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
77843201-77855006 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 77847515 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 241
(T241M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098053
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100484]
[ENSMUST00000230419]
|
AlphaFold |
O70194 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000100484
AA Change: T241M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000098053 Gene: ENSMUSG00000016554 AA Change: T241M
Domain | Start | End | E-Value | Type |
Pfam:eIF-3_zeta
|
4 |
521 |
6.3e-220 |
PFAM |
low complexity region
|
530 |
547 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181255
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229413
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229713
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229737
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229784
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229824
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230419
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230711
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Eukaryotic translation initiation factor-3 (eIF3), the largest of the eIFs, is a multiprotein complex composed of at least ten nonidentical subunits. The complex binds to the 40S ribosome and helps maintain the 40S and 60S ribosomal subunits in a dissociated state. It is also thought to play a role in the formation of the 40S initiation complex by interacting with the ternary complex of eIF2/GTP/methionyl-tRNA, and by promoting mRNA binding. The protein encoded by this gene is the major RNA binding subunit of the eIF3 complex. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930544L04Rik |
A |
G |
7: 134,998,871 (GRCm39) |
|
noncoding transcript |
Het |
Adam34l |
T |
C |
8: 44,079,189 (GRCm39) |
H345R |
probably damaging |
Het |
Adgrv1 |
A |
T |
13: 81,637,147 (GRCm39) |
F3431L |
probably benign |
Het |
Adk |
A |
G |
14: 21,142,461 (GRCm39) |
N21S |
probably damaging |
Het |
Cacna2d3 |
A |
G |
14: 29,022,688 (GRCm39) |
|
probably benign |
Het |
Camk2d |
C |
A |
3: 126,574,061 (GRCm39) |
A156E |
probably damaging |
Het |
Ccdc171 |
G |
T |
4: 83,580,047 (GRCm39) |
W598L |
probably damaging |
Het |
Cep85 |
C |
T |
4: 133,876,072 (GRCm39) |
V445I |
possibly damaging |
Het |
Cftr |
A |
G |
6: 18,270,252 (GRCm39) |
Y814C |
probably damaging |
Het |
Dctn1 |
T |
C |
6: 83,156,879 (GRCm39) |
S9P |
probably benign |
Het |
Dmxl1 |
A |
G |
18: 50,045,818 (GRCm39) |
K2409R |
probably benign |
Het |
Dnaaf1 |
T |
A |
8: 120,309,317 (GRCm39) |
I135N |
probably damaging |
Het |
Etv1 |
T |
C |
12: 38,831,791 (GRCm39) |
|
probably benign |
Het |
Gdpd3 |
C |
A |
7: 126,366,997 (GRCm39) |
S182R |
probably benign |
Het |
Gm12888 |
C |
A |
4: 121,175,521 (GRCm39) |
C87F |
probably damaging |
Het |
Gml |
C |
A |
15: 74,685,576 (GRCm39) |
M136I |
probably benign |
Het |
Habp2 |
A |
G |
19: 56,298,548 (GRCm39) |
T137A |
probably benign |
Het |
Igkv6-25 |
C |
T |
6: 70,192,772 (GRCm39) |
P60S |
possibly damaging |
Het |
Mak |
A |
T |
13: 41,195,619 (GRCm39) |
W396R |
probably damaging |
Het |
Mast4 |
C |
A |
13: 102,910,744 (GRCm39) |
C441F |
probably damaging |
Het |
Medag |
T |
C |
5: 149,353,372 (GRCm39) |
I189T |
probably benign |
Het |
Myh1 |
A |
G |
11: 67,093,006 (GRCm39) |
T71A |
probably benign |
Het |
Nin |
G |
T |
12: 70,078,553 (GRCm39) |
L1678M |
probably damaging |
Het |
Nol6 |
T |
C |
4: 41,115,749 (GRCm39) |
D1081G |
probably damaging |
Het |
Or1j4 |
A |
T |
2: 36,740,631 (GRCm39) |
D191V |
probably damaging |
Het |
Or6f1 |
A |
T |
7: 85,970,361 (GRCm39) |
D266E |
probably benign |
Het |
Ppp1r10 |
T |
A |
17: 36,240,451 (GRCm39) |
N580K |
probably damaging |
Het |
Rpgrip1l |
T |
C |
8: 91,987,367 (GRCm39) |
|
probably benign |
Het |
Serpinb3a |
G |
A |
1: 106,978,789 (GRCm39) |
Q57* |
probably null |
Het |
Thumpd3 |
T |
C |
6: 113,037,021 (GRCm39) |
S307P |
probably benign |
Het |
Upf1 |
A |
C |
8: 70,790,934 (GRCm39) |
D577E |
probably benign |
Het |
Vmn2r99 |
T |
C |
17: 19,614,518 (GRCm39) |
V746A |
probably benign |
Het |
Wscd2 |
T |
C |
5: 113,708,800 (GRCm39) |
V268A |
probably damaging |
Het |
|
Other mutations in Eif3d |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00840:Eif3d
|
APN |
15 |
77,846,069 (GRCm39) |
missense |
probably benign |
|
IGL01082:Eif3d
|
APN |
15 |
77,843,943 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01865:Eif3d
|
APN |
15 |
77,851,546 (GRCm39) |
missense |
probably benign |
0.34 |
IGL03070:Eif3d
|
APN |
15 |
77,843,843 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03277:Eif3d
|
APN |
15 |
77,843,849 (GRCm39) |
missense |
possibly damaging |
0.50 |
R0049:Eif3d
|
UTSW |
15 |
77,843,924 (GRCm39) |
missense |
probably benign |
0.01 |
R0049:Eif3d
|
UTSW |
15 |
77,843,924 (GRCm39) |
missense |
probably benign |
0.01 |
R0325:Eif3d
|
UTSW |
15 |
77,852,420 (GRCm39) |
missense |
probably damaging |
1.00 |
R1346:Eif3d
|
UTSW |
15 |
77,852,754 (GRCm39) |
missense |
probably damaging |
1.00 |
R2219:Eif3d
|
UTSW |
15 |
77,849,142 (GRCm39) |
missense |
probably benign |
0.35 |
R2993:Eif3d
|
UTSW |
15 |
77,845,905 (GRCm39) |
missense |
possibly damaging |
0.85 |
R3796:Eif3d
|
UTSW |
15 |
77,852,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R3797:Eif3d
|
UTSW |
15 |
77,852,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R3839:Eif3d
|
UTSW |
15 |
77,848,300 (GRCm39) |
missense |
probably benign |
0.30 |
R4690:Eif3d
|
UTSW |
15 |
77,851,516 (GRCm39) |
missense |
probably benign |
0.06 |
R4828:Eif3d
|
UTSW |
15 |
77,844,229 (GRCm39) |
nonsense |
probably null |
|
R5411:Eif3d
|
UTSW |
15 |
77,843,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R5558:Eif3d
|
UTSW |
15 |
77,846,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R6764:Eif3d
|
UTSW |
15 |
77,845,886 (GRCm39) |
missense |
probably damaging |
1.00 |
R6821:Eif3d
|
UTSW |
15 |
77,845,855 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7176:Eif3d
|
UTSW |
15 |
77,847,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R7322:Eif3d
|
UTSW |
15 |
77,845,876 (GRCm39) |
missense |
probably benign |
0.36 |
R7616:Eif3d
|
UTSW |
15 |
77,845,886 (GRCm39) |
missense |
probably damaging |
1.00 |
R8199:Eif3d
|
UTSW |
15 |
77,844,292 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9457:Eif3d
|
UTSW |
15 |
77,843,894 (GRCm39) |
missense |
probably benign |
0.00 |
R9553:Eif3d
|
UTSW |
15 |
77,843,837 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Posted On |
2013-06-21 |