Incidental Mutation 'R8199:Eif3d'
ID |
635605 |
Institutional Source |
Beutler Lab
|
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 |
MMRRC Submission |
067622-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.966)
|
Stock # |
R8199 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
77843201-77855006 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 77844292 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 404
(C404Y)
|
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: C404Y
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000098053 Gene: ENSMUSG00000016554 AA Change: C404Y
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
T |
C |
7: 41,275,304 (GRCm39) |
Y336H |
probably damaging |
Het |
4930563I02Rik |
A |
G |
14: 60,333,388 (GRCm39) |
I42M |
noncoding transcript |
Het |
Acad9 |
T |
C |
3: 36,139,572 (GRCm39) |
S391P |
probably damaging |
Het |
Aven |
C |
T |
2: 112,390,120 (GRCm39) |
R8W |
probably benign |
Het |
Cacna1c |
T |
C |
6: 118,651,545 (GRCm39) |
T972A |
probably benign |
Het |
Col25a1 |
G |
A |
3: 130,345,628 (GRCm39) |
G406E |
probably damaging |
Het |
Coro2b |
T |
G |
9: 62,336,302 (GRCm39) |
I267L |
probably benign |
Het |
Cst12 |
A |
G |
2: 148,631,459 (GRCm39) |
N60S |
probably benign |
Het |
Dnah8 |
A |
T |
17: 31,090,393 (GRCm39) |
I4632F |
probably benign |
Het |
Elapor2 |
C |
T |
5: 9,470,657 (GRCm39) |
T260M |
probably damaging |
Het |
Fam43a |
A |
T |
16: 30,419,586 (GRCm39) |
K57* |
probably null |
Het |
Fbrs |
T |
C |
7: 127,086,956 (GRCm39) |
|
probably null |
Het |
Fcnb |
C |
T |
2: 27,968,330 (GRCm39) |
S209N |
possibly damaging |
Het |
Fggy |
G |
A |
4: 95,700,381 (GRCm39) |
E351K |
probably benign |
Het |
Gabra6 |
G |
A |
11: 42,207,280 (GRCm39) |
S268L |
probably damaging |
Het |
Gatm |
A |
G |
2: 122,432,994 (GRCm39) |
Y223H |
probably damaging |
Het |
Gli3 |
T |
A |
13: 15,900,576 (GRCm39) |
M1321K |
probably benign |
Het |
Hira |
G |
A |
16: 18,766,194 (GRCm39) |
A669T |
probably benign |
Het |
Hoxa5 |
T |
C |
6: 52,181,240 (GRCm39) |
S31G |
probably benign |
Het |
Kdm2a |
T |
A |
19: 4,439,054 (GRCm39) |
Q25L |
unknown |
Het |
Loxhd1 |
C |
A |
18: 77,469,334 (GRCm39) |
N1000K |
possibly damaging |
Het |
Mpdu1 |
C |
T |
11: 69,548,069 (GRCm39) |
W235* |
probably null |
Het |
Msantd2 |
G |
C |
9: 37,400,789 (GRCm39) |
G57A |
probably benign |
Het |
Nat1 |
A |
G |
8: 67,943,650 (GRCm39) |
R9G |
probably damaging |
Het |
Nbl1 |
G |
A |
4: 138,810,880 (GRCm39) |
P105S |
probably damaging |
Het |
Or2j3 |
T |
C |
17: 38,615,444 (GRCm39) |
R303G |
probably benign |
Het |
Or52e4 |
A |
C |
7: 104,705,852 (GRCm39) |
Q133P |
probably damaging |
Het |
Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
Pdzrn3 |
T |
C |
6: 101,128,918 (GRCm39) |
S583G |
probably damaging |
Het |
Prpf4 |
A |
G |
4: 62,340,866 (GRCm39) |
D427G |
probably damaging |
Het |
Ptpn21 |
T |
A |
12: 98,644,841 (GRCm39) |
I1167F |
possibly damaging |
Het |
Rasgrp1 |
T |
A |
2: 117,124,293 (GRCm39) |
H303L |
probably damaging |
Het |
Ros1 |
T |
A |
10: 51,977,813 (GRCm39) |
K1499* |
probably null |
Het |
Skida1 |
C |
A |
2: 18,052,959 (GRCm39) |
L64F |
probably damaging |
Het |
St3gal5 |
T |
C |
6: 72,119,175 (GRCm39) |
Y123H |
probably benign |
Het |
Syk |
T |
C |
13: 52,778,768 (GRCm39) |
S285P |
probably benign |
Het |
Syt4 |
T |
C |
18: 31,577,268 (GRCm39) |
T29A |
probably benign |
Het |
Trav7-3 |
A |
G |
14: 53,681,099 (GRCm39) |
D47G |
possibly damaging |
Het |
Trpm7 |
A |
G |
2: 126,691,918 (GRCm39) |
F146L |
probably damaging |
Het |
Utp20 |
A |
T |
10: 88,634,337 (GRCm39) |
D786E |
probably benign |
Het |
Uts2 |
G |
A |
4: 151,086,115 (GRCm39) |
C117Y |
possibly damaging |
Het |
Zfp553 |
T |
C |
7: 126,835,468 (GRCm39) |
L341P |
probably damaging |
Het |
Zfp994 |
T |
A |
17: 22,419,204 (GRCm39) |
K582* |
probably null |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTTTCCCCAGAGTAGAGCC -3'
(R):5'- TCACTTGTCACCATCGGGATG -3'
Sequencing Primer
(F):5'- AGCAGCGGCCTCTCATC -3'
(R):5'- CCATCGGGATGAGGGGTTGC -3'
|
Posted On |
2020-07-13 |