Incidental Mutation 'R3796:Eif3d'
ID |
272776 |
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 |
040757-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.966)
|
Stock # |
R3796 (G1)
|
Quality Score |
206 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
77843201-77855006 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 77852769 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 4
(F4S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155152
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100484]
[ENSMUST00000230419]
|
AlphaFold |
O70194 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000100484
AA Change: F4S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000098053 Gene: ENSMUSG00000016554 AA Change: F4S
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 |
probably damaging
Transcript: ENSMUST00000230419
AA Change: F4S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230711
|
Meta Mutation Damage Score |
0.9712 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
100% (40/40) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts17 |
A |
G |
7: 66,489,662 (GRCm39) |
|
probably null |
Het |
Alpk3 |
C |
A |
7: 80,742,501 (GRCm39) |
P773T |
probably benign |
Het |
Alppl2 |
A |
G |
1: 87,016,076 (GRCm39) |
|
probably null |
Het |
Armh3 |
A |
G |
19: 45,910,049 (GRCm39) |
|
probably benign |
Het |
Basp1 |
C |
A |
15: 25,364,398 (GRCm39) |
|
probably benign |
Het |
Clec14a |
G |
A |
12: 58,314,695 (GRCm39) |
A309V |
probably benign |
Het |
Clk2 |
A |
G |
3: 89,082,996 (GRCm39) |
N424S |
probably benign |
Het |
Cops7a |
C |
T |
6: 124,936,795 (GRCm39) |
R252H |
probably damaging |
Het |
Csmd2 |
C |
T |
4: 128,411,388 (GRCm39) |
P2469S |
probably benign |
Het |
Cwf19l1 |
A |
G |
19: 44,103,006 (GRCm39) |
V403A |
probably damaging |
Het |
Dnajc16 |
G |
T |
4: 141,495,048 (GRCm39) |
D521E |
probably benign |
Het |
Dnm2 |
T |
C |
9: 21,416,783 (GRCm39) |
V772A |
probably benign |
Het |
Dst |
G |
T |
1: 34,220,996 (GRCm39) |
V2267F |
probably benign |
Het |
Fgfr1 |
G |
A |
8: 26,062,453 (GRCm39) |
D663N |
probably damaging |
Het |
Hmcn1 |
A |
G |
1: 150,462,169 (GRCm39) |
Y5170H |
probably damaging |
Het |
Kcna2 |
T |
A |
3: 107,012,906 (GRCm39) |
L496I |
probably benign |
Het |
Krt8 |
T |
C |
15: 101,907,877 (GRCm39) |
I233V |
probably benign |
Het |
Mfap1b |
A |
G |
2: 121,304,386 (GRCm39) |
V3A |
probably benign |
Het |
Phrf1 |
C |
T |
7: 140,839,831 (GRCm39) |
R243* |
probably null |
Het |
Plbd2 |
A |
T |
5: 120,630,933 (GRCm39) |
I224N |
probably damaging |
Het |
Rab19 |
T |
C |
6: 39,360,975 (GRCm39) |
V41A |
probably benign |
Het |
Rrm1 |
T |
A |
7: 102,114,910 (GRCm39) |
|
probably null |
Het |
Sacs |
T |
C |
14: 61,443,570 (GRCm39) |
V1872A |
possibly damaging |
Het |
Setd2 |
T |
C |
9: 110,378,639 (GRCm39) |
V818A |
probably benign |
Het |
Shprh |
C |
T |
10: 11,054,501 (GRCm39) |
L1037F |
possibly damaging |
Het |
Slc24a3 |
A |
G |
2: 145,458,601 (GRCm39) |
D527G |
probably damaging |
Het |
Slc27a6 |
T |
C |
18: 58,731,823 (GRCm39) |
|
probably benign |
Het |
Slc35g3 |
A |
G |
11: 69,651,743 (GRCm39) |
F103L |
probably benign |
Het |
Slc5a1 |
A |
G |
5: 33,309,996 (GRCm39) |
D408G |
probably damaging |
Het |
Spag6l |
A |
T |
16: 16,580,916 (GRCm39) |
I477N |
probably damaging |
Het |
Srgap1 |
A |
G |
10: 121,883,037 (GRCm39) |
V21A |
probably benign |
Het |
Trim7 |
A |
G |
11: 48,736,497 (GRCm39) |
|
probably null |
Het |
Trpa1 |
T |
C |
1: 14,963,488 (GRCm39) |
N578S |
possibly damaging |
Het |
Xdh |
T |
C |
17: 74,214,653 (GRCm39) |
E764G |
probably damaging |
Het |
Zfp518a |
G |
T |
19: 40,903,754 (GRCm39) |
V1228F |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTAGCCCCAAAGGAAGGATATC -3'
(R):5'- AAAATGTCGCTGGTGTTGGC -3'
Sequencing Primer
(F):5'- TATCCATCAAGAGACTAGAAAGGC -3'
(R):5'- CAGGGTTCTGCGTTTTGAGTGTTC -3'
|
Posted On |
2015-03-25 |