Incidental Mutation 'IGL03277:Eif3d'
| ID |
415458 |
| 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 # |
IGL03277
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
77843201-77855006 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77843849 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 499
(M499T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098053
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016696]
[ENSMUST00000100484]
[ENSMUST00000117725]
|
| AlphaFold |
O70194 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016696
|
| SMART Domains |
Protein: ENSMUSP00000016696
Gene: ENSMUSG00000016552
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:Pyr_redox_2
|
22 |
243 |
2.9e-11 |
PFAM |
|
Pfam:Pyr_redox_3
|
25 |
240 |
9.3e-35 |
PFAM |
|
Pfam:NAD_binding_8
|
26 |
84 |
3.3e-6 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100484
AA Change: M499T
PolyPhen 2
Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000098053
Gene: ENSMUSG00000016554
AA Change: M499T
| 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 |
probably benign
Transcript: ENSMUST00000117725
|
| SMART Domains |
Protein: ENSMUSP00000113403
Gene: ENSMUSG00000016552
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:Pyr_redox_2
|
23 |
478 |
3.4e-9 |
PFAM |
|
Pfam:Pyr_redox_3
|
25 |
240 |
6.2e-37 |
PFAM |
|
Pfam:NAD_binding_8
|
26 |
90 |
4.8e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129045
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181255
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229737
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229824
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amt |
A |
G |
9: 108,178,418 (GRCm39) |
T342A |
probably benign |
Het |
| Atosa |
G |
A |
9: 74,916,514 (GRCm39) |
R371Q |
probably damaging |
Het |
| B3glct |
T |
C |
5: 149,650,299 (GRCm39) |
L134P |
probably damaging |
Het |
| Bms1 |
A |
T |
6: 118,382,083 (GRCm39) |
M485K |
probably benign |
Het |
| Chd6 |
T |
C |
2: 160,824,981 (GRCm39) |
N1226S |
probably null |
Het |
| Cpne2 |
T |
C |
8: 95,275,000 (GRCm39) |
Y3H |
probably benign |
Het |
| Dmxl2 |
A |
G |
9: 54,311,504 (GRCm39) |
V1739A |
probably damaging |
Het |
| Dnah7a |
T |
A |
1: 53,669,481 (GRCm39) |
T543S |
probably benign |
Het |
| Dock11 |
T |
G |
X: 35,277,603 (GRCm39) |
V1000G |
probably benign |
Het |
| Ednrb |
T |
A |
14: 104,080,735 (GRCm39) |
N60Y |
probably benign |
Het |
| Elmod1 |
G |
A |
9: 53,833,272 (GRCm39) |
L178F |
probably damaging |
Het |
| Hrh4 |
T |
C |
18: 13,148,940 (GRCm39) |
S101P |
probably damaging |
Het |
| Ift172 |
A |
G |
5: 31,424,642 (GRCm39) |
V684A |
possibly damaging |
Het |
| Mtx2 |
A |
G |
2: 74,698,748 (GRCm39) |
T124A |
probably damaging |
Het |
| Nat3 |
T |
A |
8: 68,000,341 (GRCm39) |
H73Q |
probably benign |
Het |
| Ndst2 |
A |
G |
14: 20,780,234 (GRCm39) |
L2P |
possibly damaging |
Het |
| Nipsnap3a |
G |
T |
4: 52,997,219 (GRCm39) |
A162S |
probably benign |
Het |
| Or2a57 |
T |
G |
6: 43,212,876 (GRCm39) |
C111W |
probably damaging |
Het |
| Or5m5 |
T |
C |
2: 85,814,517 (GRCm39) |
I111T |
probably damaging |
Het |
| Peg3 |
T |
C |
7: 6,714,673 (GRCm39) |
D183G |
probably damaging |
Het |
| Prlr |
A |
G |
15: 10,328,887 (GRCm39) |
E454G |
probably benign |
Het |
| Prom1 |
G |
A |
5: 44,190,313 (GRCm39) |
Q364* |
probably null |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Sema5b |
A |
G |
16: 35,471,682 (GRCm39) |
D425G |
probably damaging |
Het |
| Slc16a7 |
A |
T |
10: 125,066,560 (GRCm39) |
C360S |
probably benign |
Het |
| Slc38a7 |
T |
A |
8: 96,575,104 (GRCm39) |
I59F |
probably damaging |
Het |
| Slc5a6 |
A |
G |
5: 31,195,372 (GRCm39) |
C449R |
possibly damaging |
Het |
| Slc9b1 |
T |
C |
3: 135,096,269 (GRCm39) |
Y357H |
possibly damaging |
Het |
| Snx17 |
A |
T |
5: 31,353,084 (GRCm39) |
|
probably benign |
Het |
| Stk32b |
A |
C |
5: 37,786,320 (GRCm39) |
M48R |
probably damaging |
Het |
| Tspan9 |
A |
G |
6: 127,944,038 (GRCm39) |
|
probably null |
Het |
| Tst |
A |
T |
15: 78,289,521 (GRCm39) |
N171K |
probably damaging |
Het |
| Vmn1r180 |
T |
A |
7: 23,652,710 (GRCm39) |
I291N |
probably damaging |
Het |
| Vmn2r32 |
T |
A |
7: 7,477,251 (GRCm39) |
D380V |
probably benign |
Het |
| Wdfy4 |
T |
C |
14: 32,790,861 (GRCm39) |
T2189A |
probably benign |
Het |
| Zbtb20 |
A |
G |
16: 43,438,800 (GRCm39) |
N640S |
possibly damaging |
Het |
| Zfp142 |
A |
G |
1: 74,610,193 (GRCm39) |
S1098P |
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 |
|
IGL01113:Eif3d
|
APN |
15 |
77,847,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation