Incidental Mutation 'IGL03070:Eif3d'
| ID |
417482 |
| 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 # |
IGL03070
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
77843201-77855006 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77843843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 501
(L501P)
|
| 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 |
probably damaging
Transcript: ENSMUST00000100484
AA Change: L501P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000098053
Gene: ENSMUSG00000016554
AA Change: L501P
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
T |
C |
8: 25,193,800 (GRCm39) |
E404G |
probably damaging |
Het |
| Arid1a |
A |
G |
4: 133,422,064 (GRCm39) |
S778P |
unknown |
Het |
| Asah2 |
A |
T |
19: 31,983,744 (GRCm39) |
Y567N |
probably damaging |
Het |
| Crb1 |
G |
T |
1: 139,168,996 (GRCm39) |
H841N |
possibly damaging |
Het |
| Ehbp1l1 |
A |
G |
19: 5,765,981 (GRCm39) |
V1454A |
probably benign |
Het |
| Fbxo4 |
A |
T |
15: 4,007,344 (GRCm39) |
S107T |
possibly damaging |
Het |
| Galnt10 |
T |
C |
11: 57,616,408 (GRCm39) |
Y108H |
probably damaging |
Het |
| Hspbap1 |
T |
A |
16: 35,639,096 (GRCm39) |
D263E |
probably damaging |
Het |
| Kpna3 |
T |
C |
14: 61,608,231 (GRCm39) |
|
probably benign |
Het |
| Miox |
A |
G |
15: 89,220,287 (GRCm39) |
T160A |
possibly damaging |
Het |
| Mlxipl |
G |
A |
5: 135,161,307 (GRCm39) |
V409M |
possibly damaging |
Het |
| Mrps21 |
A |
T |
3: 95,777,897 (GRCm39) |
|
probably benign |
Het |
| Muc6 |
A |
G |
7: 141,230,834 (GRCm39) |
|
probably benign |
Het |
| Mup6 |
A |
T |
4: 60,003,999 (GRCm39) |
I31F |
probably damaging |
Het |
| Or52s1 |
A |
G |
7: 102,861,904 (GRCm39) |
H279R |
probably benign |
Het |
| Pabir1 |
A |
C |
19: 24,454,316 (GRCm39) |
D135E |
probably damaging |
Het |
| Pgr |
T |
A |
9: 8,903,665 (GRCm39) |
I562N |
possibly damaging |
Het |
| Prag1 |
T |
A |
8: 36,570,703 (GRCm39) |
W429R |
probably benign |
Het |
| Prrc2c |
G |
T |
1: 162,504,978 (GRCm39) |
P2621Q |
probably damaging |
Het |
| Psip1 |
T |
G |
4: 83,383,318 (GRCm39) |
K232N |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,770,084 (GRCm39) |
Y2663C |
probably damaging |
Het |
| Trhr2 |
T |
A |
8: 123,085,342 (GRCm39) |
Q214L |
probably benign |
Het |
| Txndc11 |
A |
T |
16: 10,893,151 (GRCm39) |
Y860N |
probably damaging |
Het |
| Uqcc6 |
A |
T |
10: 82,455,950 (GRCm39) |
|
probably benign |
Het |
| Vmn2r72 |
C |
T |
7: 85,401,249 (GRCm39) |
|
probably benign |
Het |
| Yif1a |
T |
A |
19: 5,138,757 (GRCm39) |
H4Q |
possibly 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 |
|
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 |
2016-08-02 |
Incidental Mutation