Incidental Mutation 'R3746:Eif3g'
| ID |
309812 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eif3g
|
| Ensembl Gene |
ENSMUSG00000070319 |
| Gene Name |
eukaryotic translation initiation factor 3, subunit G |
| Synonyms |
44kDa, D0Jmb4, Eif3s4, p44, TU-189B2 |
| MMRRC Submission |
040732-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R3746 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
20805645-20809886 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 20805993 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 295
(R295C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004206
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004203]
[ENSMUST00000004206]
[ENSMUST00000214331]
|
| AlphaFold |
Q9Z1D1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004203
|
| SMART Domains |
Protein: ENSMUSP00000004203
Gene: ENSMUSG00000004100
| Domain | Start | End | E-Value | Type |
|---|
|
Brix
|
32 |
286 |
1.13e-77 |
SMART |
|
Blast:Brix
|
321 |
429 |
6e-9 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004206
AA Change: R295C
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000004206
Gene: ENSMUSG00000070319
AA Change: R295C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:eIF3g
|
56 |
175 |
5.5e-45 |
PFAM |
|
RRM
|
240 |
313 |
1.49e-22 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135608
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145231
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147780
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153227
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158946
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214331
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216133
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213454
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213882
|
| Meta Mutation Damage Score |
0.2479 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (45/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a core subunit of the eukaryotic translation initiation factor 3 (eIF3) complex, which is required for initiation of protein translation. An N-terminal caspase cleavage product of the encoded protein may stimulate degradation of DNA. A mutation in this gene is associated with narcolepsy. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
C |
A |
5: 77,036,501 (GRCm39) |
E347* |
probably null |
Het |
| Abcb5 |
T |
C |
12: 118,838,355 (GRCm39) |
D1069G |
probably damaging |
Het |
| Ago1 |
A |
G |
4: 126,354,837 (GRCm39) |
I125T |
probably benign |
Het |
| Ccdc40 |
T |
C |
11: 119,155,252 (GRCm39) |
V1164A |
probably benign |
Het |
| Chd7 |
G |
A |
4: 8,752,537 (GRCm39) |
V345M |
probably damaging |
Het |
| Cln6 |
A |
G |
9: 62,754,284 (GRCm39) |
I109V |
probably benign |
Het |
| Csmd3 |
A |
T |
15: 47,713,162 (GRCm39) |
F1604Y |
probably benign |
Het |
| Cx3cr1 |
T |
C |
9: 119,881,132 (GRCm39) |
H90R |
probably damaging |
Het |
| Dip2c |
A |
T |
13: 9,651,509 (GRCm39) |
D674V |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 117,973,742 (GRCm39) |
S1935G |
probably benign |
Het |
| Epha5 |
T |
C |
5: 84,206,963 (GRCm39) |
K998E |
probably damaging |
Het |
| Fam171b |
A |
T |
2: 83,709,944 (GRCm39) |
T539S |
probably damaging |
Het |
| Fer1l4 |
G |
T |
2: 155,876,968 (GRCm39) |
H1159N |
probably benign |
Het |
| Fsip1 |
A |
G |
2: 118,063,531 (GRCm39) |
C313R |
probably damaging |
Het |
| Gm37240 |
T |
G |
3: 84,426,919 (GRCm39) |
N168T |
probably benign |
Het |
| Gm7589 |
T |
C |
9: 59,053,138 (GRCm39) |
|
noncoding transcript |
Het |
| Igkv20-101-2 |
A |
T |
6: 68,451,942 (GRCm39) |
I66L |
possibly damaging |
Het |
| Irf3 |
T |
C |
7: 44,648,297 (GRCm39) |
F54S |
probably damaging |
Het |
| Lrba |
T |
G |
3: 86,283,260 (GRCm39) |
L1858R |
probably damaging |
Het |
| Lrp10 |
A |
T |
14: 54,706,723 (GRCm39) |
N520I |
possibly damaging |
Het |
| Map3k21 |
A |
G |
8: 126,661,839 (GRCm39) |
K479E |
probably damaging |
Het |
| Mpdz |
A |
C |
4: 81,281,384 (GRCm39) |
V609G |
probably damaging |
Het |
| Opcml |
G |
A |
9: 28,812,826 (GRCm39) |
V173M |
possibly damaging |
Het |
| Or51b6 |
T |
A |
7: 103,556,267 (GRCm39) |
M207K |
probably benign |
Het |
| Osbpl7 |
T |
C |
11: 96,946,879 (GRCm39) |
V223A |
probably damaging |
Het |
| Pcdh17 |
A |
T |
14: 84,770,477 (GRCm39) |
Y985F |
probably benign |
Het |
| Piezo1 |
G |
T |
8: 123,219,377 (GRCm39) |
F1084L |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,128,524 (GRCm39) |
*4060Q |
probably null |
Het |
| Plekhn1 |
T |
C |
4: 156,310,051 (GRCm39) |
T88A |
probably benign |
Het |
| Pramel18 |
T |
A |
4: 101,767,073 (GRCm39) |
D107E |
possibly damaging |
Het |
| Rmdn2 |
T |
A |
17: 79,977,981 (GRCm39) |
|
probably null |
Het |
| Selenom |
A |
G |
11: 3,467,132 (GRCm39) |
E137G |
probably benign |
Het |
| Slc38a7 |
A |
G |
8: 96,570,380 (GRCm39) |
|
probably benign |
Het |
| Slc39a12 |
T |
C |
2: 14,400,878 (GRCm39) |
|
probably benign |
Het |
| Slk |
T |
G |
19: 47,608,248 (GRCm39) |
D400E |
possibly damaging |
Het |
| Supt16 |
A |
G |
14: 52,417,596 (GRCm39) |
L306P |
probably damaging |
Het |
| Tas2r136 |
A |
T |
6: 132,754,200 (GRCm39) |
F309Y |
probably damaging |
Het |
| Tmem63a |
G |
A |
1: 180,790,679 (GRCm39) |
D446N |
possibly damaging |
Het |
| Trim63 |
G |
A |
4: 134,042,665 (GRCm39) |
C44Y |
probably damaging |
Het |
| Ush2a |
G |
A |
1: 188,542,489 (GRCm39) |
G3352S |
probably benign |
Het |
| Vmn1r4 |
A |
G |
6: 56,934,116 (GRCm39) |
R207G |
probably damaging |
Het |
| Vmn2r76 |
A |
G |
7: 85,874,763 (GRCm39) |
V738A |
probably benign |
Het |
| Vwa5b2 |
A |
G |
16: 20,417,076 (GRCm39) |
|
probably benign |
Het |
| Zfhx4 |
G |
A |
3: 5,308,225 (GRCm39) |
E484K |
possibly damaging |
Het |
|
| Other mutations in Eif3g |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03373:Eif3g
|
APN |
9 |
20,805,722 (GRCm39) |
unclassified |
probably benign |
|
|
R0076:Eif3g
|
UTSW |
9 |
20,809,049 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0076:Eif3g
|
UTSW |
9 |
20,809,049 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0332:Eif3g
|
UTSW |
9 |
20,809,280 (GRCm39) |
splice site |
probably benign |
|
|
R2343:Eif3g
|
UTSW |
9 |
20,806,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4087:Eif3g
|
UTSW |
9 |
20,809,248 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4151:Eif3g
|
UTSW |
9 |
20,806,429 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8175:Eif3g
|
UTSW |
9 |
20,809,026 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8530:Eif3g
|
UTSW |
9 |
20,809,026 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9025:Eif3g
|
UTSW |
9 |
20,807,426 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9522:Eif3g
|
UTSW |
9 |
20,809,452 (GRCm39) |
missense |
probably benign |
|
|
R9522:Eif3g
|
UTSW |
9 |
20,809,451 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCACTCACATCAGGGAAC -3'
(R):5'- GGACACTCGTGAGACTGACTTG -3'
Sequencing Primer
(F):5'- AACCCTTGGCCTGGTCTG -3'
(R):5'- CTCCCGAATCTACTTGGCCAAGG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation