Incidental Mutation 'R2416:Eif3m'
| ID |
248997 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eif3m
|
| Ensembl Gene |
ENSMUSG00000027170 |
| Gene Name |
eukaryotic translation initiation factor 3, subunit M |
| Synonyms |
Tango7, Pcid1, Ga17 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2416 (G1)
|
| Quality Score |
216 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
104830001-104847372 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 104844178 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 76
(P76T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028592
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028592]
[ENSMUST00000111110]
|
| AlphaFold |
Q99JX4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028592
AA Change: P76T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000028592
Gene: ENSMUSG00000027170
AA Change: P76T
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HDc
|
119 |
209 |
1e-12 |
BLAST |
|
PINT
|
268 |
357 |
6.42e-26 |
SMART |
|
low complexity region
|
358 |
372 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111110
|
| SMART Domains |
Protein: ENSMUSP00000106739
Gene: ENSMUSG00000027170
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:HDc
|
13 |
77 |
7e-8 |
BLAST |
|
PINT
|
136 |
225 |
6.42e-26 |
SMART |
|
low complexity region
|
226 |
240 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130611
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144358
|
| SMART Domains |
Protein: ENSMUSP00000114374
Gene: ENSMUSG00000045106
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CCDC73
|
1 |
182 |
3.1e-77 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is part of the eurkaryotic translation initiation factor 3 complete (eIF-3) required for protein synthesis. Elevated levels of the encoded protein are present in cancer cell lines. Inactivation of the encoded protein has been shown to interfere with translation of herpes virus mRNAs by preventing the association of mRNAs with the ribosomes. A pseudogene of this gene is located on the X chromosome. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a targeted allele exhibit embryonic lethality. Mice heterozygous for this allele exhibit decreased body weight and altered organ weights. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,385,791 (GRCm39) |
D58G |
probably benign |
Het |
| Atp8a2 |
T |
C |
14: 60,162,457 (GRCm39) |
R755G |
probably damaging |
Het |
| Bard1 |
G |
T |
1: 71,113,811 (GRCm39) |
T390N |
probably benign |
Het |
| Birc6 |
T |
C |
17: 74,915,214 (GRCm39) |
S1635P |
possibly damaging |
Het |
| Cep152 |
A |
T |
2: 125,406,092 (GRCm39) |
L1480* |
probably null |
Het |
| Cryba1 |
T |
A |
11: 77,611,726 (GRCm39) |
I116F |
probably damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,448,285 (GRCm39) |
S125P |
probably damaging |
Het |
| Cyp2b13 |
A |
G |
7: 25,795,246 (GRCm39) |
*492W |
probably null |
Het |
| Eya1 |
A |
G |
1: 14,340,927 (GRCm39) |
|
probably null |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Fat1 |
T |
C |
8: 45,479,420 (GRCm39) |
I2822T |
probably damaging |
Het |
| Glyat |
T |
A |
19: 12,628,618 (GRCm39) |
S138T |
possibly damaging |
Het |
| Gpr160 |
A |
G |
3: 30,950,158 (GRCm39) |
T77A |
probably benign |
Het |
| Hdac1-ps |
G |
T |
17: 78,799,945 (GRCm39) |
W312L |
probably damaging |
Het |
| Krt19 |
T |
C |
11: 100,036,433 (GRCm39) |
I85V |
probably benign |
Het |
| Mbtps1 |
A |
G |
8: 120,265,656 (GRCm39) |
I297T |
probably damaging |
Het |
| Park7 |
A |
G |
4: 150,992,858 (GRCm39) |
S3P |
probably benign |
Het |
| Rtel1 |
C |
T |
2: 180,982,324 (GRCm39) |
T358I |
possibly damaging |
Het |
| Slc11a1 |
T |
C |
1: 74,422,803 (GRCm39) |
L311P |
probably damaging |
Het |
| Ulk2 |
C |
T |
11: 61,672,865 (GRCm39) |
G910R |
probably damaging |
Het |
| Zdhhc14 |
G |
A |
17: 5,803,283 (GRCm39) |
R462H |
probably benign |
Het |
| Zfp382 |
A |
G |
7: 29,833,828 (GRCm39) |
Y493C |
probably damaging |
Het |
|
| Other mutations in Eif3m |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02003:Eif3m
|
APN |
2 |
104,843,188 (GRCm39) |
intron |
probably benign |
|
|
IGL02661:Eif3m
|
APN |
2 |
104,835,314 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02932:Eif3m
|
APN |
2 |
104,845,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0039:Eif3m
|
UTSW |
2 |
104,836,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0373:Eif3m
|
UTSW |
2 |
104,835,345 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1452:Eif3m
|
UTSW |
2 |
104,837,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1695:Eif3m
|
UTSW |
2 |
104,847,298 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1934:Eif3m
|
UTSW |
2 |
104,831,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2115:Eif3m
|
UTSW |
2 |
104,837,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4610:Eif3m
|
UTSW |
2 |
104,843,633 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4713:Eif3m
|
UTSW |
2 |
104,837,184 (GRCm39) |
splice site |
probably null |
|
|
R5373:Eif3m
|
UTSW |
2 |
104,843,277 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5374:Eif3m
|
UTSW |
2 |
104,843,277 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5725:Eif3m
|
UTSW |
2 |
104,844,186 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7996:Eif3m
|
UTSW |
2 |
104,831,694 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8983:Eif3m
|
UTSW |
2 |
104,830,139 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9082:Eif3m
|
UTSW |
2 |
104,836,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9227:Eif3m
|
UTSW |
2 |
104,831,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9230:Eif3m
|
UTSW |
2 |
104,831,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Eif3m
|
UTSW |
2 |
104,843,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Eif3m
|
UTSW |
2 |
104,831,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATCCCTCTGAATGCTGTATC -3'
(R):5'- TAACTTTCACAGTAGGCAAGCTATG -3'
Sequencing Primer
(F):5'- TACTGGATCTCCAAGAGCTGG -3'
(R):5'- CAGTAGGCAAGCTATGTATTTTAAGC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation